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 HIAT1 0 genome.wustl.edu 37 1 100547720 100547720 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 100547720 100547720 G A SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known silent c.1428 p.A476 0.778 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 77 0 0 50 5 9.09091 SASS6 0 genome.wustl.edu 37 1 100588820 100588820 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 100588820 100588820 T C SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.152 p.D51G 0.999 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 57 0 0 28 3 9.67742 RTCA 0 genome.wustl.edu 37 1 100733760 100733760 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 100733760 100733760 C T SNP RTCA ENST00000260563 human ensembl 74_37 +1 known silent c.238 p.L80 0.998 pfam_RNA3'_phos_cyclase_dom,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,tigrfam_RNA3'_term_phos_cyc_type_1 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 109 0 0 88 5 5.37634 RTCA 0 genome.wustl.edu 37 1 100740491 100740491 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 100740491 100740491 A G SNP RTCA ENST00000260563 human ensembl 74_37 +1 known silent c.624 p.R208 1.000 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 124 0 0 70 5 6.66667 SLC30A7 0 genome.wustl.edu 37 1 101431466 101431466 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 101431466 101431466 T A SNP SLC30A7 ENST00000357650 human ensembl 74_37 +1 novel missense c.1075 p.F359I 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A7 HGNC ENSG00000162695 115 0 0 74 11 12.9412 DPH5 0 genome.wustl.edu 37 1 101458252 101458252 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 101458252 101458252 T C SNP DPH5 ENST00000370109 human ensembl 74_37 -1 known missense c.575 p.Q192R 1.000 pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 162 0 0 119 11 8.46154 UBE4B 0 genome.wustl.edu 37 1 10165777 10165777 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 10165777 10165777 T A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.784 p.S262T 0.999 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 58 0 0 49 5 9.25926 OLFM3 0 genome.wustl.edu 37 1 102290762 102290762 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 102290762 102290762 G A SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known missense c.472 p.P158S 1.000 superfamily_Quino_amine_DH_bsu pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 59 0 0 48 7 12.7273 UBE4B 0 genome.wustl.edu 37 1 10231209 10231209 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 10231209 10231209 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.3347 p.R1116Q 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 153 0 0 107 33 23.5714 AMY2B 0 genome.wustl.edu 37 1 104118128 104118128 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 104118128 104118128 G A SNP AMY2B ENST00000361355 human ensembl 74_37 +1 known missense c.1067 p.S356N 1.000 superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2B HGNC ENSG00000240038 404 0 0 279 15 5.10204 DFFA 0 genome.wustl.edu 37 1 10523179 10523179 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 10523179 10523179 T C SNP DFFA ENST00000377038 human ensembl 74_37 -1 known missense c.719 p.H240R 0.542 pfam_DNA_fragmentation_mid_dom,pirsf_DNA_fragmentation_factor_asu pfam_DNA_fragmentation_mid_dom,pfam_CIDE-N_dom,smart_CIDE-N_dom,pirsf_DNA_fragmentation_factor_asu,pfscan_CIDE-N_dom - no_errors DFFA HGNC ENSG00000160049 50 0 0 64 5 7.24638 CASZ1 0 genome.wustl.edu 37 1 10699955 10699955 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 10699955 10699955 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.4324 p.D1442N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 32 0 0 23 3 11.5385 CASZ1 0 genome.wustl.edu 37 1 10720009 10720009 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 10720009 10720009 C T SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.1090 p.A364T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 86 0 0 89 11 11 NTNG1 0 genome.wustl.edu 37 1 107867139 107867139 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 107867139 107867139 T C SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.482 p.I161T 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 97 0 0 99 8 7.47664 NTNG1 0 genome.wustl.edu 37 1 107973538 107973538 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 107973538 107973538 A G SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known missense c.1254 p.I418M 1.000 NULL pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 56 0 0 28 4 12.5 FAM102B 0 genome.wustl.edu 37 1 109154855 109154855 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 109154855 109154855 G A SNP FAM102B ENST00000370035 human ensembl 74_37 +1 known missense c.344 p.R115H 1.000 pfam_NT-C2 pfam_NT-C2 - no_errors FAM102B HGNC ENSG00000162636 121 0 0 86 27 23.8938 STXBP3 0 genome.wustl.edu 37 1 109321945 109321945 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 109321945 109321945 G A SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.722 p.G241D 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 187 0 0 134 12 8.21918 CLCC1 0 genome.wustl.edu 37 1 109482311 109482311 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 109482311 109482311 T C SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known missense c.988 p.I330V 1.000 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 58 0 0 39 4 9.30233 KIAA1324 0 genome.wustl.edu 37 1 109742558 109742558 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 109742558 109742558 G A SNP KIAA1324 ENST00000369939 human ensembl 74_37 +1 known missense c.2584 p.A862T 0.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324 HGNC ENSG00000116299 61 0 0 64 5 7.24638 CELSR2 0 genome.wustl.edu 37 1 109795564 109795564 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 109795564 109795564 C A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.2863 p.Q955K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 122 1 0.813008 119 28 19.0476 CELSR2 0 genome.wustl.edu 37 1 109801132 109801132 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 109801132 109801132 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.3389 p.T1130M 1.000 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 8 0 0 6 3 33.3333 GNAI3 0 genome.wustl.edu 37 1 110129475 110129475 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 110129475 110129475 C T SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known missense c.845 p.P282L 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 96 0 0 69 6 8 GSTM4 0 genome.wustl.edu 37 1 110203856 110203856 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 110203856 110203856 G A SNP GSTM4 ENST00000369836 human ensembl 74_37 +1 known missense c.637 p.A213T 0.950 superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM4 HGNC ENSG00000168765 144 0 0 147 9 5.76923 AHCYL1 0 genome.wustl.edu 37 1 110555579 110555579 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 110555579 110555579 T C SNP AHCYL1 ENST00000369799 human ensembl 74_37 +1 known missense c.538 p.Y180H 1.000 pfam_Adenosylhomocysteinase,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 ENSG00000168710 86 0 0 61 9 12.8571 SLC6A17 0 genome.wustl.edu 37 1 110737212 110737212 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 110737212 110737212 C T SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known silent c.1311 p.G437 0.998 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 48 0 0 31 9 22.5 KCNA10 0 genome.wustl.edu 37 1 111059927 111059927 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 111059927 111059927 C A SNP KCNA10 ENST00000369771 human ensembl 74_37 -1 known missense c.1483 p.D495Y 0.530 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC ENSG00000143105 158 1 0.628931 139 14 9.15033 DRAM2 0 genome.wustl.edu 37 1 111668915 111668915 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 111668915 111668915 C T SNP DRAM2 ENST00000286692 human ensembl 74_37 -1 known missense c.133 p.D45N 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM2 HGNC ENSG00000156171 162 0 0 104 12 10.3448 CHIAP2 0 genome.wustl.edu 37 1 111825358 111825358 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 111825358 111825358 G A SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CHIAP2 HGNC ENSG00000203878 23 0 0 29 8 21.6216 C1orf162 0 genome.wustl.edu 37 1 112020302 112020302 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 112020302 112020302 G A SNP C1orf162 ENST00000343534 human ensembl 74_37 +1 known missense c.232 p.G78S 0.001 NULL NULL - no_errors C1orf162 HGNC ENSG00000143110 82 0 0 100 8 7.40741 MTOR 0 genome.wustl.edu 37 1 11206822 11206822 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 11206822 11206822 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4597 p.T1533A 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 91 0 0 82 7 7.86517 RAP1A 0 genome.wustl.edu 37 1 112247110 112247110 + Splice_Site SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 112247110 112247110 T A SNP RAP1A ENST00000356415 human ensembl 74_37 +1 known splice_site c.468+2 e5+2 1.000 - - - no_errors RAP1A HGNC ENSG00000116473 82 0 0 57 4 6.55738 CTTNBP2NL 0 genome.wustl.edu 37 1 112991688 112991688 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 112991688 112991688 T A SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.224 p.V75D 0.999 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 59 0 0 50 5 9.09091 CTTNBP2NL 0 genome.wustl.edu 37 1 112998596 112998596 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 112998596 112998596 A G SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.482 p.Q161R 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 68 0 0 52 6 10.3448 CTTNBP2NL 0 genome.wustl.edu 37 1 112998647 112998647 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 112998647 112998647 T A SNP CTTNBP2NL ENST00000271277 human ensembl 74_37 +1 known missense c.533 p.L178H 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 80 0 0 65 6 8.4507 MTOR 0 genome.wustl.edu 37 1 11313937 11313937 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 11313937 11313937 T C SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.799 p.I267V 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 149 0 0 142 14 8.97436 CAPZA1 0 genome.wustl.edu 37 1 113197105 113197105 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 113197105 113197105 G A SNP CAPZA1 ENST00000263168 human ensembl 74_37 +1 known missense c.238 p.G80S 1.000 pfam_CapZ_alpha pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA1 HGNC ENSG00000116489 112 0 0 79 5 5.95238 MOV10 0 genome.wustl.edu 37 1 113238807 113238807 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 113238807 113238807 T C SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known missense c.1817 p.V606A 0.516 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 57 0 0 50 16 24.2424 MOV10 0 genome.wustl.edu 37 1 113240932 113240932 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 113240932 113240932 C T SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known silent c.2340 p.G780 0.441 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 61 0 0 45 3 6.25 LRIG2 0 genome.wustl.edu 37 1 113653183 113653183 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 113653183 113653183 T C SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known silent c.1797 p.N599 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 73 0 0 52 5 8.77193 MAGI3 0 genome.wustl.edu 37 1 114184904 114184904 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114184904 114184904 A T SNP MAGI3 ENST00000369611 human ensembl 74_37 +1 known missense c.1732 p.T578S 1.000 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI3 HGNC ENSG00000081026 68 0 0 65 8 10.9589 PHTF1 0 genome.wustl.edu 37 1 114247337 114247337 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114247337 114247337 T C SNP PHTF1 ENST00000369604 human ensembl 74_37 -1 known missense c.1754 p.K585R 1.000 NULL pfam_TF_homeodomain_male - no_errors PHTF1 HGNC ENSG00000116793 186 0 0 128 11 7.91367 RSBN1 0 genome.wustl.edu 37 1 114310883 114310883 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114310883 114310883 G T SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known missense c.1787 p.A596D 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 101 0 0 79 7 8.13953 RSBN1 0 genome.wustl.edu 37 1 114320291 114320291 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114320291 114320291 A G SNP RSBN1 ENST00000261441 human ensembl 74_37 -1 known splice_site c.1515+2 e3+2 1.000 - - - no_errors RSBN1 HGNC ENSG00000081019 56 0 0 28 9 24.3243 AP4B1 0 genome.wustl.edu 37 1 114447319 114447319 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114447319 114447319 C A SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known missense c.21 p.E7D 1.000 superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 165 1 0.60241 141 40 22.0994 DCLRE1B 0 genome.wustl.edu 37 1 114450717 114450717 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114450717 114450717 A G SNP DCLRE1B ENST00000369563 human ensembl 74_37 +1 known missense c.442 p.N148D 1.000 NULL pfam_DRMBL - no_errors DCLRE1B HGNC ENSG00000118655 114 0 0 112 11 8.94309 SYT6 0 genome.wustl.edu 37 1 114680358 114680358 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114680358 114680358 C T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.830 p.R277H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 98 0 0 96 7 6.79612 SYT6 0 genome.wustl.edu 37 1 114682276 114682276 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114682276 114682276 C T SNP SYT6 ENST00000393296 human ensembl 74_37 -1 known missense c.473 p.R158Q 0.992 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT6 HGNC ENSG00000134207 38 0 0 39 8 17.0213 BCAS2 0 genome.wustl.edu 37 1 115124132 115124132 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 115124132 115124132 A G SNP BCAS2 ENST00000369541 human ensembl 74_37 -1 known silent c.81 p.G27 0.940 pfam_SPF27 pfam_SPF27 - no_errors BCAS2 HGNC ENSG00000116752 57 0 0 53 3 5.35714 AMPD1 0 genome.wustl.edu 37 1 115221074 115221074 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 115221074 115221074 T C SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known silent c.1071 p.Q357 0.001 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 104 0 0 76 11 12.6437 CSDE1 0 genome.wustl.edu 37 1 115261368 115261368 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 115261368 115261368 T C SNP CSDE1 ENST00000369530 human ensembl 74_37 -1 known splice_site c.2262-2 e17-2 1.000 - - - no_errors CSDE1 HGNC ENSG00000009307 63 0 0 39 5 11.3636 SYCP1 0 genome.wustl.edu 37 1 115418740 115418740 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 115418740 115418740 A T SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.708 p.R236S 0.986 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 99 0 0 58 4 6.45161 TSHB 0 genome.wustl.edu 37 1 115576796 115576796 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 115576796 115576796 C A SNP TSHB ENST00000256592 human ensembl 74_37 +1 known missense c.365 p.T122K 0.986 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors TSHB HGNC ENSG00000134200 142 0 0 99 20 16.8067 PTCHD2 0 genome.wustl.edu 37 1 11580746 11580746 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 11580746 11580746 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.2203 p.L735 0.998 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 53 0 0 45 5 10 PTCHD2 0 genome.wustl.edu 37 1 11591735 11591735 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 11591735 11591735 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3343 p.R1115C 0.829 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 49 0 0 46 8 14.8148 PTCHD2 0 genome.wustl.edu 37 1 11595642 11595642 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 11595642 11595642 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3757 p.V1253I 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 59 0 0 61 18 22.7848 NHLH2 0 genome.wustl.edu 37 1 116380781 116380781 + Silent SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 116380781 116380781 G C SNP NHLH2 ENST00000320238 human ensembl 74_37 -1 known silent c.213 p.R71 1.000 pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NHLH2 HGNC ENSG00000177551 15 0 0 3 5 62.5 ATP1A1 0 genome.wustl.edu 37 1 116937812 116937812 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 116937812 116937812 G A SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.1741 p.D581N 0.981 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 193 1 0.515464 129 17 11.6438 CD101 0 genome.wustl.edu 37 1 117552590 117552590 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 117552590 117552590 G T SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.162 p.Q54H 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 89 0 0 80 8 9.09091 CD101 0 genome.wustl.edu 37 1 117561006 117561006 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 117561006 117561006 C T SNP CD101 ENST00000256652 human ensembl 74_37 +1 known missense c.1841 p.T614M 0.896 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 88 0 0 78 23 22.7723 CD101 0 genome.wustl.edu 37 1 117568456 117568456 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 117568456 117568456 A T SNP CD101 ENST00000256652 human ensembl 74_37 +1 known silent c.2754 p.G918 0.039 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD101 HGNC ENSG00000134256 77 0 0 72 4 5.26316 TTF2 0 genome.wustl.edu 37 1 117617696 117617696 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 117617696 117617696 G A SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.490 p.D164N 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 105 0 0 48 12 20 TTF2 0 genome.wustl.edu 37 1 117634487 117634487 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 117634487 117634487 A T SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2720 p.D907V 0.011 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 78 0 0 62 8 11.4286 TRIM45 0 genome.wustl.edu 37 1 117661186 117661186 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 117661186 117661186 A T SNP TRIM45 ENST00000256649 human ensembl 74_37 -1 known missense c.692 p.I231N 0.969 NULL pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM45 HGNC ENSG00000134253 60 0 0 68 4 5.55556 MAN1A2 0 genome.wustl.edu 37 1 118009007 118009007 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 118009007 118009007 T C SNP MAN1A2 ENST00000356554 human ensembl 74_37 +1 known missense c.1126 p.Y376H 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A2 HGNC ENSG00000198162 74 0 0 32 8 20 FAM46C 0 genome.wustl.edu 37 1 118165851 118165851 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 118165851 118165851 C T SNP FAM46C ENST00000369448 human ensembl 74_37 +1 known missense c.361 p.P121S 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46C HGNC ENSG00000183508 108 0 0 95 25 20.8333 GDAP2 0 genome.wustl.edu 37 1 118461256 118461256 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 118461256 118461256 T C SNP GDAP2 ENST00000369443 human ensembl 74_37 -1 known silent c.279 p.A93 0.932 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom - no_errors GDAP2 HGNC ENSG00000196505 98 0 0 63 8 11.2676 WDR3 0 genome.wustl.edu 37 1 118483468 118483468 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 118483468 118483468 C T SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known missense c.694 p.P232S 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 239 0 0 176 11 5.88235 SPAG17 0 genome.wustl.edu 37 1 118527389 118527389 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 118527389 118527389 T C SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.5686 p.T1896A 0.010 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 117 1 0.847458 68 9 11.6883 SPAG17 0 genome.wustl.edu 37 1 118530822 118530822 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 118530822 118530822 C T SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.5527 p.A1843T 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 37 0 0 19 4 17.3913 UBE2J2 0 genome.wustl.edu 37 1 1190610 1190610 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1190610 1190610 G A SNP UBE2J2 ENST00000400930 human ensembl 74_37 -1 known silent c.801 p.Y267 0.930 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 42 0 0 32 7 17.9487 TBX15 0 genome.wustl.edu 37 1 119441700 119441700 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 119441700 119441700 A C SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known silent c.657 p.P219 0.999 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 60 0 0 54 3 5.26316 WARS2 0 genome.wustl.edu 37 1 119584963 119584963 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 119584963 119584963 T C SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known missense c.439 p.T147A 0.188 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 102 0 0 74 7 8.64198 PLOD1 0 genome.wustl.edu 37 1 12018613 12018613 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 12018613 12018613 A G SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.1025 p.E342G 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 26 0 0 25 3 10.7143 CPSF3L 0 genome.wustl.edu 37 1 1249150 1249150 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1249150 1249150 C T SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.937 p.A313T 1.000 pfam_Beta_Casp pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 72 0 0 70 8 10.2564 AADACL4 0 genome.wustl.edu 37 1 12726188 12726188 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 12726188 12726188 T A SNP AADACL4 ENST00000376221 human ensembl 74_37 +1 known nonsense c.666 p.Y222* 0.057 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 159 0 0 167 12 6.70391 PRAMEF1 0 genome.wustl.edu 37 1 12855624 12855624 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 12855624 12855624 T C SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.904 p.Y302H 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 132 0 0 109 18 14.1732 MXRA8 0 genome.wustl.edu 37 1 1290077 1290077 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1290077 1290077 C T SNP MXRA8 ENST00000445648 human ensembl 74_37 -1 known missense c.934 p.G312S 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 9 0 0 6 4 40 HNRNPCL1 0 genome.wustl.edu 37 1 12907311 12907311 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 12907311 12907311 C T SNP HNRNPCL1 ENST00000317869 human ensembl 74_37 -1 known missense c.832 p.E278K 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPCL1 HGNC ENSG00000179172 329 0 0 297 16 5.11182 CCNL2 0 genome.wustl.edu 37 1 1325706 1325706 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1325706 1325706 C T SNP CCNL2 ENST00000400809 human ensembl 74_37 -1 known missense c.910 p.A304T 0.528 pirsf_Cyclin_L pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 123 0 0 92 28 23.3333 ATAD3C 0 genome.wustl.edu 37 1 1391275 1391275 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1391275 1391275 C T SNP ATAD3C ENST00000378785 human ensembl 74_37 +1 known silent c.543 p.T181 0.937 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3C HGNC ENSG00000215915 41 0 0 32 12 27.2727 PRDM2 0 genome.wustl.edu 37 1 14059379 14059379 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 14059379 14059379 T C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known splice_site c.231+2 e3+2 1.000 - - - no_errors PRDM2 HGNC ENSG00000116731 76 0 0 55 6 9.83607 PRDM2 0 genome.wustl.edu 37 1 14105882 14105882 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 14105882 14105882 C T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.1592 p.A531V 1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 50 0 0 29 9 23.6842 PRDM2 0 genome.wustl.edu 37 1 14108310 14108310 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 14108310 14108310 A G SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.4020 p.K1340 1.000 smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 190 0 0 147 32 17.8771 PRDM2 0 genome.wustl.edu 37 1 14108484 14108484 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 14108484 14108484 A T SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.4194 p.G1398 0.306 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 101 0 0 80 9 10.1124 PRDM2 0 genome.wustl.edu 37 1 14108568 14108568 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 14108568 14108568 T A SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known missense c.4278 p.N1426K 0.902 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 186 0 0 134 15 10.0671 PRDM2 0 genome.wustl.edu 37 1 14108802 14108802 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 14108802 14108802 T C SNP PRDM2 ENST00000235372 human ensembl 74_37 +1 known silent c.4512 p.S1504 0.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 199 0 0 158 11 6.50888 NBPF9 0 genome.wustl.edu 37 1 144828753 144828753 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 144828753 144828753 T C SNP NBPF9 ENST00000281815 human ensembl 74_37 +1 known missense c.593 p.V198A 0.010 NULL pfam_NBPF_dom - no_errors NBPF9 HGNC ENSG00000168614 456 3 0.653595 361 25 6.47668 PDE4DIP 0 genome.wustl.edu 37 1 144867919 144867919 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 144867919 144867919 A G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known splice_site c.5518+2 e33+2 1.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 415 0 0 419 28 6.26398 PDE4DIP 0 genome.wustl.edu 37 1 144882879 144882879 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 144882879 144882879 T G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.3140 p.N1047T 0.999 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 295 0 0 269 22 7.56014 PDE4DIP 0 genome.wustl.edu 37 1 144903048 144903048 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 144903048 144903048 A G SNP PDE4DIP ENST00000529945 human ensembl 74_37 -1 putative silent c.3333 p.H1111 0.736 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 145 0 0 124 14 10.1449 PDE4DIP 0 genome.wustl.edu 37 1 144917847 144917847 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 144917847 144917847 C T SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1439 p.R480Q 0.955 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 494 0 0 312 46 12.8492 PDE4DIP 0 genome.wustl.edu 37 1 145075861 145075861 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 145075861 145075861 A G SNP PDE4DIP ENST00000369348 human ensembl 74_37 -1 known missense c.2 p.M1T 0.836 NULL pfam_Spindle_assoc - no_errors PDE4DIP HGNC ENSG00000178104 75 0 0 69 4 5.47945 ITGA10 0 genome.wustl.edu 37 1 145535890 145535890 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 145535890 145535890 A T SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.2078 p.D693V 0.036 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 101 0 0 108 9 7.69231 ANKRD35 0 genome.wustl.edu 37 1 145555804 145555804 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 145555804 145555804 A G SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.152 p.D51G 0.942 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 41 0 0 51 3 5.55556 ANKRD35 0 genome.wustl.edu 37 1 145562806 145562806 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 145562806 145562806 C T SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known silent c.2494 p.L832 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 23 0 0 22 3 12 NUDT17 0 genome.wustl.edu 37 1 145587453 145587453 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 145587453 145587453 G A SNP NUDT17 ENST00000334513 human ensembl 74_37 -1 known silent c.627 p.S209 0.186 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT17 HGNC ENSG00000186364 90 0 0 85 24 22.0183 RNF115 0 genome.wustl.edu 37 1 145646131 145646131 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 145646131 145646131 G A SNP RNF115 ENST00000369291 human ensembl 74_37 +1 known missense c.119 p.R40K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF115 HGNC ENSG00000121848 125 0 0 74 19 20.4301 PRKAB2 0 genome.wustl.edu 37 1 146633349 146633349 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 146633349 146633349 G A SNP PRKAB2 ENST00000254101 human ensembl 74_37 -1 known missense c.683 p.A228V 1.000 pfam_AMP_prot_kin_bsu_interact-dom pfam_AMP_prot_kin_bsu_interact-dom,superfamily_Ig_E-set - no_errors PRKAB2 HGNC ENSG00000131791 87 0 0 64 9 12.3288 FMO5 0 genome.wustl.edu 37 1 146680462 146680462 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 146680462 146680462 A G SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.782 p.I261T 0.954 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 87 0 0 65 4 5.7971 CHD1L 0 genome.wustl.edu 37 1 146766192 146766192 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 146766192 146766192 A G SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.2608 p.T870A 1.000 pfscan_Macro_dom pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 129 0 0 107 13 10.8333 ACP6 0 genome.wustl.edu 37 1 147131101 147131101 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 147131101 147131101 G T SNP ACP6 ENST00000369238 human ensembl 74_37 -1 known missense c.533 p.A178D 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP6 HGNC ENSG00000162836 133 0 0 116 14 10.7692 HIST2H2BE 0 genome.wustl.edu 37 1 149857887 149857887 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 149857887 149857887 G T SNP HIST2H2BE ENST00000369155 human ensembl 74_37 -1 known missense c.304 p.L102M 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BE HGNC ENSG00000184678 68 0 0 49 4 7.54717 HIST2H2AC 0 genome.wustl.edu 37 1 149858906 149858906 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 149858906 149858906 A G SNP HIST2H2AC ENST00000331380 human ensembl 74_37 +1 known missense c.382 p.S128G 0.992 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 96 0 0 77 17 18.0851 SV2A 0 genome.wustl.edu 37 1 149880804 149880804 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 149880804 149880804 C T SNP SV2A ENST00000369146 human ensembl 74_37 -1 known missense c.1319 p.G440D 0.999 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 99 0 0 75 8 9.63855 MTMR11 0 genome.wustl.edu 37 1 149903306 149903306 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 149903306 149903306 C T SNP MTMR11 ENST00000439741 human ensembl 74_37 -1 known missense c.1136 p.R379H 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR11 HGNC ENSG00000014914 46 0 0 42 5 10.6383 OTUD7B 0 genome.wustl.edu 37 1 149916322 149916322 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 149916322 149916322 C A SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known nonsense c.1966 p.G656* 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 125 0 0 98 26 20.9677 VPS45 0 genome.wustl.edu 37 1 150065723 150065723 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 150065723 150065723 G A SNP VPS45 ENST00000369130 human ensembl 74_37 +1 known missense c.1472 p.G491D 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC ENSG00000136631 151 0 0 102 11 9.73451 RPRD2 0 genome.wustl.edu 37 1 150444063 150444063 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 150444063 150444063 C T SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.2639 p.A880V 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 122 0 0 116 7 5.69106 RPRD2 0 genome.wustl.edu 37 1 150444378 150444378 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 150444378 150444378 C T SNP RPRD2 ENST00000369068 human ensembl 74_37 +1 known missense c.2954 p.T985M 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_CID_dom - no_errors RPRD2 HGNC ENSG00000163125 286 0 0 237 58 19.661 ADAMTSL4 0 genome.wustl.edu 37 1 150530529 150530529 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 150530529 150530529 C A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known silent c.2355 p.P785 0.692 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 113 1 0.877193 137 8 5.51724 ADAMTSL4 0 genome.wustl.edu 37 1 150531943 150531943 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 150531943 150531943 G A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known splice_site c.3012+1 e16+1 1.000 - - - no_errors ADAMTSL4 HGNC ENSG00000143382 42 0 0 42 11 20.7547 C1orf56 0 genome.wustl.edu 37 1 151021160 151021160 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151021160 151021160 C T SNP C1orf56 ENST00000368926 human ensembl 74_37 +1 known silent c.837 p.T279 0.051 NULL superfamily_Thrombospondin_1_rpt - no_errors C1orf56 HGNC ENSG00000143443 137 0 0 154 10 6.09756 PIP5K1A 0 genome.wustl.edu 37 1 151214608 151214608 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151214608 151214608 C T SNP PIP5K1A ENST00000368888 human ensembl 74_37 +1 known missense c.1373 p.S458F 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1A HGNC ENSG00000143398 465 0 0 340 18 5.02793 PI4KB 0 genome.wustl.edu 37 1 151280078 151280078 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151280078 151280078 T G SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known missense c.1190 p.Q397P 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 54 0 0 39 7 15.2174 RFX5 0 genome.wustl.edu 37 1 151315256 151315256 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151315256 151315256 T C SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.1257 p.I419M 0.997 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 291 0 0 271 31 10.2649 RFX5 0 genome.wustl.edu 37 1 151317258 151317258 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151317258 151317258 A G SNP RFX5 ENST00000290524 human ensembl 74_37 -1 known missense c.299 p.L100P 1.000 pfam_DNA-bd_RFX pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 45 0 0 39 5 11.3636 POGZ 0 genome.wustl.edu 37 1 151378320 151378320 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151378320 151378320 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3191 p.G1064E 0.993 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 73 0 0 75 8 9.63855 POGZ 0 genome.wustl.edu 37 1 151380621 151380621 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151380621 151380621 C T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.2330 p.R777H 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 98 0 0 86 7 7.52688 POGZ 0 genome.wustl.edu 37 1 151400884 151400884 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151400884 151400884 C A SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.574 p.G192C 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 147 0 0 165 16 8.83978 CGN 0 genome.wustl.edu 37 1 151506503 151506503 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151506503 151506503 C T SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.2795 p.A932V 0.002 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 39 0 0 35 3 7.89474 CGN 0 genome.wustl.edu 37 1 151509216 151509216 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151509216 151509216 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.3317 p.R1106K 1.000 pfam_Myosin_tail pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 61 0 0 57 5 8.06452 LINGO4 0 genome.wustl.edu 37 1 151773766 151773766 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151773766 151773766 C T SNP LINGO4 ENST00000368820 human ensembl 74_37 -1 known missense c.1415 p.R472H 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO4 HGNC ENSG00000213171 153 0 0 129 32 19.8758 TCHHL1 0 genome.wustl.edu 37 1 152058504 152058504 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152058504 152058504 T C SNP TCHHL1 ENST00000368806 human ensembl 74_37 -1 known missense c.1654 p.S552G 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 153 0 0 129 16 11.0345 TCHH 0 genome.wustl.edu 37 1 152081767 152081767 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152081767 152081767 C A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.3926 p.R1309M 0.002 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 205 2 0.966184 202 15 6.91244 TCHH 0 genome.wustl.edu 37 1 152083746 152083746 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152083746 152083746 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known silent c.1947 p.R649 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 125 0 0 101 13 11.4035 HRNR 0 genome.wustl.edu 37 1 152187976 152187976 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152187976 152187976 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.6129 p.G2043 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 433 0 0 423 35 7.64192 HRNR 0 genome.wustl.edu 37 1 152192748 152192748 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152192748 152192748 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.1357 p.G453S 0.005 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 153 0 0 139 10 6.71141 HRNR 0 genome.wustl.edu 37 1 152193216 152193216 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152193216 152193216 C T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.889 p.G297S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 200 0 0 163 54 24.8848 FLG 0 genome.wustl.edu 37 1 152275456 152275456 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152275456 152275456 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11906 p.Q3969R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 131 0 0 97 12 11.0092 FLG 0 genome.wustl.edu 37 1 152280937 152280937 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152280937 152280937 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6425 p.P2142L 0.002 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 558 1 0.178891 516 83 13.8564 FLG 0 genome.wustl.edu 37 1 152282226 152282226 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152282226 152282226 T C SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.5136 p.R1712 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 340 0 0 270 70 20.5882 FLG 0 genome.wustl.edu 37 1 152285766 152285766 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152285766 152285766 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.1596 p.H532 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 475 2 0.419287 453 49 9.76096 FLG2 0 genome.wustl.edu 37 1 152323458 152323458 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152323458 152323458 T G SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.6804 p.S2268 0.018 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 313 0 0 258 81 23.8938 FLG2 0 genome.wustl.edu 37 1 152325465 152325465 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152325465 152325465 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known silent c.4797 p.Y1599 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 308 0 0 257 53 17.0968 KPRP 0 genome.wustl.edu 37 1 152733357 152733357 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152733357 152733357 T C SNP KPRP ENST00000368773 human ensembl 74_37 +1 known silent c.1293 p.C431 0.048 NULL NULL - no_errors KPRP HGNC ENSG00000203786 118 0 0 111 10 8.26446 LCE1C 0 genome.wustl.edu 37 1 152777882 152777882 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 152777882 152777882 G A SNP LCE1C ENST00000368768 human ensembl 74_37 -1 known missense c.73 p.P25S 0.022 NULL NULL - no_errors LCE1C HGNC ENSG00000197084 44 0 0 43 4 8.51064 PGLYRP3 0 genome.wustl.edu 37 1 153274910 153274910 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153274910 153274910 G A SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.703 p.R235W 0.000 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 177 0 0 124 19 13.2867 S100A3 0 genome.wustl.edu 37 1 153520239 153520239 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153520239 153520239 A G SNP S100A3 ENST00000368712 human ensembl 74_37 -1 known silent c.225 p.Y75 0.133 NULL pfam_S100_Ca-bd_sub - no_errors S100A3 HGNC ENSG00000188015 140 0 0 114 8 6.55738 NPR1 0 genome.wustl.edu 37 1 153653743 153653743 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153653743 153653743 T C SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.1009 p.F337L 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_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 122 0 0 76 6 7.31707 INTS3 0 genome.wustl.edu 37 1 153713206 153713206 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153713206 153713206 C T SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known missense c.230 p.A77V 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 114 0 0 77 8 9.41176 KAZN 0 genome.wustl.edu 37 1 15390079 15390079 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 15390079 15390079 C T SNP KAZN ENST00000376030 human ensembl 74_37 +1 known silent c.1059 p.P353 0.999 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 38 0 0 25 12 32.4324 DENND4B 0 genome.wustl.edu 37 1 153914821 153914821 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153914821 153914821 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.652 p.R218C 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 26 0 0 20 6 23.0769 SLC39A1 0 genome.wustl.edu 37 1 153935110 153935110 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153935110 153935110 C A SNP SLC39A1 ENST00000310483 human ensembl 74_37 -1 known nonsense c.82 p.E28* 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A1 HGNC ENSG00000143570 30 0 0 34 3 8.10811 JTB 0 genome.wustl.edu 37 1 153947178 153947178 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153947178 153947178 G A SNP JTB ENST00000271843 human ensembl 74_37 -1 known missense c.418 p.R140W 1.000 pfam_JTB pfam_JTB - no_errors JTB HGNC ENSG00000143543 148 1 0.671141 121 34 21.9355 JTB 0 genome.wustl.edu 37 1 153947216 153947216 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153947216 153947216 C T SNP JTB ENST00000271843 human ensembl 74_37 -1 known missense c.380 p.R127H 1.000 pfam_JTB pfam_JTB - no_errors JTB HGNC ENSG00000143543 130 0 0 112 27 19.4245 NUP210L 0 genome.wustl.edu 37 1 153967602 153967602 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153967602 153967602 A G SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.5441 p.L1814P 0.952 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 66 0 0 55 8 12.6984 NUP210L 0 genome.wustl.edu 37 1 154091248 154091248 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 154091248 154091248 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.1363 p.H455Y 0.970 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 271 0 0 162 15 8.47458 CHRNB2 0 genome.wustl.edu 37 1 154544124 154544124 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 154544124 154544124 G A SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.825 p.A275 0.969 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 128 0 0 105 27 20.4545 ADAR 0 genome.wustl.edu 37 1 154569657 154569657 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 154569657 154569657 T C SNP ADAR ENST00000292205 human ensembl 74_37 -1 known missense c.2150 p.E717G 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 82 0 0 74 9 10.8434 PMVK 0 genome.wustl.edu 37 1 154897634 154897634 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 154897634 154897634 G A SNP PMVK ENST00000368467 human ensembl 74_37 -1 known silent c.550 p.L184 0.228 superfamily_P-loop_NTPase,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim pfam_Pmev_kin_anim,superfamily_P-loop_NTPase,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim - no_errors PMVK HGNC ENSG00000163344 170 0 0 169 13 7.14286 TRIM46 0 genome.wustl.edu 37 1 155147963 155147963 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155147963 155147963 C A SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known silent c.165 p.A55 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 96 0 0 97 10 9.34579 TRIM46 0 genome.wustl.edu 37 1 155154445 155154445 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155154445 155154445 G A SNP TRIM46 ENST00000334634 human ensembl 74_37 +1 known missense c.1706 p.R569Q 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM46 HGNC ENSG00000163462 32 0 0 33 8 19.5122 THBS3 0 genome.wustl.edu 37 1 155169629 155169629 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155169629 155169629 G T SNP THBS3 ENST00000368378 human ensembl 74_37 -1 known missense c.1846 p.L616M 1.000 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 88 0 0 97 10 9.34579 FAM189B 0 genome.wustl.edu 37 1 155220430 155220430 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155220430 155220430 G A SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known missense c.1147 p.R383W 0.994 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 33 0 0 16 4 20 SCAMP3 0 genome.wustl.edu 37 1 155226553 155226553 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155226553 155226553 T A SNP SCAMP3 ENST00000302631 human ensembl 74_37 -1 known missense c.809 p.K270M 0.048 pfam_SCAMP pfam_SCAMP - no_errors SCAMP3 HGNC ENSG00000116521 41 0 0 33 5 13.1579 FDPS 0 genome.wustl.edu 37 1 155289429 155289429 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155289429 155289429 G A SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.874 p.A292T 0.011 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 69 0 0 42 10 19.2308 RUSC1-AS1 0 genome.wustl.edu 37 1 155290616 155290616 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155290616 155290616 C A SNP RUSC1-AS1 ENST00000450199 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 46 0 0 43 10 18.8679 ASH1L 0 genome.wustl.edu 37 1 155349857 155349857 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155349857 155349857 G T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.6169 p.L2057I 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 124 1 0.8 72 6 7.69231 ASH1L 0 genome.wustl.edu 37 1 155449639 155449639 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155449639 155449639 A G SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.3022 p.S1008P 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 91 0 0 81 7 7.95455 ASH1L 0 genome.wustl.edu 37 1 155450153 155450153 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155450153 155450153 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2508 p.M836I 1.000 smart_AT_hook_DNA-bd_motif pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 139 0 0 124 9 6.76692 ASH1L 0 genome.wustl.edu 37 1 155450980 155450980 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155450980 155450980 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.1681 p.T561A 0.999 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 105 0 0 91 6 6.18557 ASH1L 0 genome.wustl.edu 37 1 155451081 155451081 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155451081 155451081 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.1580 p.C527Y 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 115 0 0 82 13 13.6842 GON4L 0 genome.wustl.edu 37 1 155721929 155721929 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155721929 155721929 A T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known missense c.6295 p.S2099T 0.000 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 104 0 0 105 12 10.2564 SYT11 0 genome.wustl.edu 37 1 155838037 155838037 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155838037 155838037 C T SNP SYT11 ENST00000368324 human ensembl 74_37 +1 known nonsense c.316 p.R106* 0.952 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 97 0 0 79 23 22.549 KIAA0907 0 genome.wustl.edu 37 1 155886463 155886463 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155886463 155886463 T C SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known silent c.1506 p.A502 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 287 2 0.692042 229 22 8.76494 KIAA0907 0 genome.wustl.edu 37 1 155891401 155891401 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155891401 155891401 G T SNP KIAA0907 ENST00000368321 human ensembl 74_37 -1 known missense c.1031 p.A344D 1.000 NULL NULL - no_errors KIAA0907 HGNC ENSG00000132680 99 0 0 65 8 10.9589 LMNA 0 genome.wustl.edu 37 1 156106815 156106815 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156106815 156106815 T C SNP LMNA ENST00000368300 human ensembl 74_37 +1 known missense c.1484 p.V495A 1.000 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNA HGNC ENSG00000160789 50 0 0 45 3 6.25 MEF2D 0 genome.wustl.edu 37 1 156446831 156446831 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156446831 156446831 C A SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known missense c.828 p.Q276H 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC ENSG00000116604 97 0 0 106 10 8.62069 MEF2D 0 genome.wustl.edu 37 1 156452228 156452228 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156452228 156452228 C T SNP MEF2D ENST00000348159 human ensembl 74_37 -1 known splice_site c.258+1 e2+1 1.000 - - - no_errors MEF2D HGNC ENSG00000116604 56 0 0 45 7 13.4615 IQGAP3 0 genome.wustl.edu 37 1 156498800 156498800 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156498800 156498800 G T SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.4479 p.G1493 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 104 0 0 99 6 5.71429 IQGAP3 0 genome.wustl.edu 37 1 156500056 156500056 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156500056 156500056 T C SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.4245 p.T1415 0.996 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 55 0 0 38 3 7.31707 IQGAP3 0 genome.wustl.edu 37 1 156504461 156504461 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156504461 156504461 T C SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known missense c.3572 p.D1191G 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 25 0 0 25 2 7.40741 IQGAP3 0 genome.wustl.edu 37 1 156518533 156518533 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156518533 156518533 A G SNP IQGAP3 ENST00000361170 human ensembl 74_37 -1 known silent c.1833 p.L611 0.998 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 35 0 0 37 4 9.7561 BCAN 0 genome.wustl.edu 37 1 156621427 156621427 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156621427 156621427 G T SNP BCAN ENST00000329117 human ensembl 74_37 +1 known nonsense c.1243 p.G415* 0.009 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 94 0 0 93 11 10.5769 ISG20L2 0 genome.wustl.edu 37 1 156697311 156697311 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156697311 156697311 T C SNP ISG20L2 ENST00000313146 human ensembl 74_37 -1 known missense c.134 p.N45S 0.587 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 169 0 0 151 19 11.1765 RRNAD1 0 genome.wustl.edu 37 1 156703256 156703256 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156703256 156703256 C T SNP RRNAD1 ENST00000368216 human ensembl 74_37 +1 known missense c.580 p.R194C 0.979 NULL NULL - no_errors RRNAD1 HGNC ENSG00000143303 102 0 0 116 8 6.45161 HDGF 0 genome.wustl.edu 37 1 156715093 156715093 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156715093 156715093 C T SNP HDGF ENST00000368206 human ensembl 74_37 -1 known missense c.208 p.E70K 1.000 pfam_PWWP_dom pfam_PWWP_dom - no_errors HDGF HGNC ENSG00000143321 29 0 0 28 2 6.66667 PRCC 0 genome.wustl.edu 37 1 156756637 156756637 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156756637 156756637 G A SNP PRCC ENST00000271526 human ensembl 74_37 +1 known missense c.754 p.A252T 1.000 NULL pfam_PRCC - no_errors PRCC HGNC ENSG00000143294 39 0 0 49 4 7.54717 INSRR 0 genome.wustl.edu 37 1 156814013 156814013 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156814013 156814013 G A SNP INSRR ENST00000368195 human ensembl 74_37 -1 known silent c.2797 p.L933 1.000 pirsf_Tyr_kinase_insulin-like_rcpt pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 71 0 0 53 5 8.62069 ARHGEF11 0 genome.wustl.edu 37 1 156914939 156914939 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156914939 156914939 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.2863 p.E955K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 108 0 0 108 9 7.69231 ARHGEF11 0 genome.wustl.edu 37 1 156916542 156916542 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156916542 156916542 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.2606 p.A869V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 175 0 0 160 20 11.1111 ARHGEF11 0 genome.wustl.edu 37 1 156918229 156918229 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156918229 156918229 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.1987 p.R663W 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 59 0 0 61 17 21.7949 ARHGEF11 0 genome.wustl.edu 37 1 156941587 156941587 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156941587 156941587 G A SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.604 p.R202W 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 63 0 0 68 14 17.0732 FCRL5 0 genome.wustl.edu 37 1 157488498 157488498 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 157488498 157488498 T A SNP FCRL5 ENST00000356953 human ensembl 74_37 -1 known missense c.2735 p.Y912F 0.996 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL5 HGNC ENSG00000143297 82 0 0 74 8 9.7561 FCRL2 0 genome.wustl.edu 37 1 157739769 157739769 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 157739769 157739769 T C SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.482 p.E161G 0.175 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 FCRL2 HGNC ENSG00000132704 74 0 0 51 8 13.5593 CD1D 0 genome.wustl.edu 37 1 158152735 158152735 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158152735 158152735 T C SNP CD1D ENST00000368171 human ensembl 74_37 +1 known silent c.675 p.H225 0.749 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 100 0 0 102 7 6.42202 CASP9 0 genome.wustl.edu 37 1 15833485 15833485 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 15833485 15833485 C T SNP CASP9 ENST00000333868 human ensembl 74_37 -1 known missense c.539 p.R180H 0.975 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP9 HGNC ENSG00000132906 149 0 0 137 16 10.4575 OR10R2 0 genome.wustl.edu 37 1 158450322 158450322 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158450322 158450322 A T SNP OR10R2 ENST00000368152 human ensembl 74_37 +1 known missense c.655 p.I219L 0.169 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 OR10R2 HGNC ENSG00000198965 193 0 0 163 11 6.32184 OR10Z1 0 genome.wustl.edu 37 1 158576558 158576558 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158576558 158576558 T C SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.330 p.T110 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 169 0 0 130 37 22.1557 OR10Z1 0 genome.wustl.edu 37 1 158576645 158576645 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158576645 158576645 C T SNP OR10Z1 ENST00000361284 human ensembl 74_37 +1 known silent c.417 p.T139 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 86 0 0 89 8 8.24742 SPTA1 0 genome.wustl.edu 37 1 158583526 158583526 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158583526 158583526 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6974 p.A2325V 0.835 pfscan_EF_hand_dom 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 93 0 0 82 5 5.74713 SPTA1 0 genome.wustl.edu 37 1 158621206 158621206 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158621206 158621206 T A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3428 p.D1143V 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 314 0 0 259 24 8.48057 SPTA1 0 genome.wustl.edu 37 1 158622391 158622391 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158622391 158622391 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.3241 p.R1081C 0.998 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 126 0 0 101 7 6.48148 OR6K3 0 genome.wustl.edu 37 1 158687118 158687118 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158687118 158687118 T C SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.836 p.D279G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 83 0 0 66 7 9.58904 OR6K3 0 genome.wustl.edu 37 1 158687335 158687335 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158687335 158687335 C G SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.619 p.D207H 0.007 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 OR6K3 HGNC ENSG00000203757 152 0 0 122 21 14.6853 OR6K3 0 genome.wustl.edu 37 1 158687490 158687490 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158687490 158687490 C A SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.464 p.R155L 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 OR6K3 HGNC ENSG00000203757 111 0 0 103 13 11.2069 OR6K6 0 genome.wustl.edu 37 1 158724839 158724839 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158724839 158724839 G T SNP OR6K6 ENST00000368144 human ensembl 74_37 +1 known missense c.234 p.Q78H 0.147 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 OR6K6 HGNC ENSG00000180433 185 0 0 142 39 21.547 IFI16 0 genome.wustl.edu 37 1 158986335 158986335 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 158986335 158986335 T C SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.394 p.S132P 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 35 0 0 31 3 8.82353 CRP 0 genome.wustl.edu 37 1 159683503 159683503 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 159683503 159683503 T A SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.487 p.N163Y 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 260 0 0 276 28 9.21053 FCRL6 0 genome.wustl.edu 37 1 159778831 159778831 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 159778831 159778831 A G SNP FCRL6 ENST00000368106 human ensembl 74_37 +1 known missense c.400 p.T134A 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL6 HGNC ENSG00000181036 64 0 0 51 6 10.5263 RSC1A1 0 genome.wustl.edu 37 1 15987346 15987346 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 15987346 15987346 A G SNP RSC1A1 ENST00000345034 human ensembl 74_37 +1 known missense c.983 p.H328R 0.000 NULL superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors RSC1A1 HGNC ENSG00000215695 89 0 0 64 4 5.88235 IGSF9 0 genome.wustl.edu 37 1 159901373 159901373 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 159901373 159901373 G T SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known silent c.1383 p.G461 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 33 0 0 31 6 16.2162 SLAMF9 0 genome.wustl.edu 37 1 159923322 159923322 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 159923322 159923322 G T SNP SLAMF9 ENST00000368093 human ensembl 74_37 -1 known silent c.168 p.S56 0.017 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF9 HGNC ENSG00000162723 79 0 0 79 5 5.95238 PIGM 0 genome.wustl.edu 37 1 160001086 160001086 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160001086 160001086 A G SNP PIGM ENST00000368090 human ensembl 74_37 -1 known silent c.444 p.S148 0.235 pfam_Mannosyltransferase_DXD pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 111 0 0 102 7 6.42202 KCNJ10 0 genome.wustl.edu 37 1 160012208 160012208 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160012208 160012208 C T SNP KCNJ10 ENST00000368089 human ensembl 74_37 -1 known missense c.115 p.V39M 0.990 pfam_K_chnl_inward-rec_Kir,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_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 147 0 0 120 7 5.51181 ATP1A2 0 genome.wustl.edu 37 1 160099949 160099949 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160099949 160099949 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1519 p.A507T 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 99 0 0 103 7 6.36364 CASQ1 0 genome.wustl.edu 37 1 160164845 160164845 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160164845 160164845 T C SNP CASQ1 ENST00000368078 human ensembl 74_37 +1 known missense c.509 p.L170P 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 86 0 0 81 5 5.81395 COPA 0 genome.wustl.edu 37 1 160261161 160261161 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160261161 160261161 T C SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.3411 p.L1137 0.836 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 104 0 0 98 9 8.41121 COPA 0 genome.wustl.edu 37 1 160264607 160264607 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160264607 160264607 A G SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.2544 p.T848 0.920 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 101 0 0 107 6 5.30973 COPA 0 genome.wustl.edu 37 1 160268779 160268779 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160268779 160268779 T C SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.1860 p.V620 0.876 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 99 0 0 114 13 10.2362 PLEKHM2 0 genome.wustl.edu 37 1 16056303 16056303 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16056303 16056303 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.2087 p.A696V 0.995 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 73 0 0 68 5 6.84932 SLAMF1 0 genome.wustl.edu 37 1 160580589 160580589 + Splice_Site SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160580589 160580589 C A SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known splice_site c.958-1 e7-1 0.879 - - - no_errors SLAMF1 HGNC ENSG00000117090 110 0 0 94 5 5.05051 SLAMF1 0 genome.wustl.edu 37 1 160607140 160607140 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160607140 160607140 C T SNP SLAMF1 ENST00000302035 human ensembl 74_37 -1 known missense c.256 p.A86T 0.000 pfam_Sig_lymph_act_molc_N pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom - no_errors SLAMF1 HGNC ENSG00000117090 110 0 0 92 11 10.6796 CD48 0 genome.wustl.edu 37 1 160654897 160654897 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160654897 160654897 T C SNP CD48 ENST00000368046 human ensembl 74_37 -1 known silent c.165 p.Q55 0.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD48 HGNC ENSG00000117091 81 0 0 49 6 10.9091 SLAMF7 0 genome.wustl.edu 37 1 160718142 160718142 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160718142 160718142 G T SNP SLAMF7 ENST00000368043 human ensembl 74_37 +1 known missense c.214 p.V72L 0.001 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like_dom - no_errors SLAMF7 HGNC ENSG00000026751 51 0 0 51 5 8.92857 SLC35E2B 0 genome.wustl.edu 37 1 1607566 1607566 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1607566 1607566 T C SNP SLC35E2B ENST00000234800 human ensembl 74_37 -1 known missense c.395 p.H132R 1.000 pfam_DMT,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E2B HGNC ENSG00000189339 32 0 0 24 5 17.2414 ITLN1 0 genome.wustl.edu 37 1 160850383 160850383 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160850383 160850383 C T SNP ITLN1 ENST00000326245 human ensembl 74_37 -1 known missense c.680 p.G227D 0.695 superfamily_Fibrinogen_a/b/g_C_dom superfamily_Fibrinogen_a/b/g_C_dom - no_errors ITLN1 HGNC ENSG00000179914 264 0 0 229 20 8.03213 FBLIM1 0 genome.wustl.edu 37 1 16095085 16095085 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16095085 16095085 A G SNP FBLIM1 ENST00000441801 human ensembl 74_37 +1 known silent c.501 p.P167 0.988 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FBLIM1 HGNC ENSG00000162458 46 0 0 44 5 10.2041 USF1 0 genome.wustl.edu 37 1 161009746 161009746 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161009746 161009746 G A SNP USF1 ENST00000368020 human ensembl 74_37 -1 known silent c.897 p.H299 0.937 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF1 HGNC ENSG00000158773 88 0 0 66 12 15.3846 PPOX 0 genome.wustl.edu 37 1 161137170 161137170 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161137170 161137170 C T SNP PPOX ENST00000352210 human ensembl 74_37 +1 known missense c.232 p.L78F 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 57 0 0 64 4 5.88235 NR1I3 0 genome.wustl.edu 37 1 161201053 161201053 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161201053 161201053 T C SNP NR1I3 ENST00000479324 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NR1I3 HGNC ENSG00000143257 66 0 0 62 13 17.3333 NR1I3 0 genome.wustl.edu 37 1 161201198 161201198 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161201198 161201198 T C SNP NR1I3 ENST00000502985 human ensembl 74_37 -1 putative missense c.305 p.Y102C 0.003 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I3 HGNC ENSG00000143257 109 0 0 81 10 10.989 NR1I3 0 genome.wustl.edu 37 1 161203072 161203072 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161203072 161203072 C T SNP NR1I3 ENST00000367979 human ensembl 74_37 -1 known missense c.295 p.A99T 0.998 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I3 HGNC ENSG00000143257 112 0 0 107 12 10.084 SDHC 0 genome.wustl.edu 37 1 161284191 161284191 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161284191 161284191 C A SNP SDHC ENST00000515731 human ensembl 74_37 +1 known rna NULL NULL 0.820 - - - no_errors SDHC HGNC ENSG00000143252 26 0 0 27 7 20.5882 HSPA6 0 genome.wustl.edu 37 1 161495350 161495350 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161495350 161495350 G A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.902 p.R301H 0.999 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 23 0 0 25 5 16.6667 HSPA6 0 genome.wustl.edu 37 1 161495882 161495882 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161495882 161495882 G A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known silent c.1434 p.V478 0.998 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 40 0 0 56 5 8.19672 FCGR3B 0 genome.wustl.edu 37 1 161599765 161599765 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161599765 161599765 T C SNP FCGR3B ENST00000294800 human ensembl 74_37 -1 known missense c.122 p.D41G 0.086 smart_Ig_sub,pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR3B HGNC ENSG00000162747 40 0 0 60 8 11.7647 FCRLB 0 genome.wustl.edu 37 1 161697222 161697222 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161697222 161697222 C T SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known missense c.1051 p.P351S 0.093 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 39 0 0 49 5 9.25926 ATF6 0 genome.wustl.edu 37 1 161789480 161789480 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161789480 161789480 T A SNP ATF6 ENST00000367942 human ensembl 74_37 +1 known missense c.967 p.S323T 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF6 HGNC ENSG00000118217 93 0 0 71 6 7.79221 OLFML2B 0 genome.wustl.edu 37 1 161954054 161954054 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161954054 161954054 T A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1664 p.N555I 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 67 0 0 49 6 10.9091 NOS1AP 0 genome.wustl.edu 37 1 162313640 162313640 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 162313640 162313640 A G SNP NOS1AP ENST00000361897 human ensembl 74_37 +1 known missense c.469 p.I157V 0.990 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors NOS1AP HGNC ENSG00000198929 90 0 0 81 10 10.989 UHMK1 0 genome.wustl.edu 37 1 162469877 162469877 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 162469877 162469877 T C SNP UHMK1 ENST00000489294 human ensembl 74_37 +1 known missense c.401 p.M134T 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_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom - no_errors UHMK1 HGNC ENSG00000152332 99 0 0 100 9 8.25688 ZBTB17 0 genome.wustl.edu 37 1 16274869 16274869 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16274869 16274869 A T SNP ZBTB17 ENST00000375733 human ensembl 74_37 -1 known missense c.122 p.V41E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB17 HGNC ENSG00000116809 75 0 0 55 4 6.77966 HSD17B7 0 genome.wustl.edu 37 1 162766377 162766377 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 162766377 162766377 T G SNP HSD17B7 ENST00000254521 human ensembl 74_37 +1 known missense c.242 p.F81C 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 112 0 0 72 7 8.86076 RGS5 0 genome.wustl.edu 37 1 163117247 163117247 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 163117247 163117247 A C SNP RGS5 ENST00000313961 human ensembl 74_37 -1 known missense c.431 p.V144G 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS5 HGNC ENSG00000143248 120 0 0 97 11 10.1852 CLCNKB 0 genome.wustl.edu 37 1 16382999 16382999 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16382999 16382999 T C SNP CLCNKB ENST00000375679 human ensembl 74_37 +1 known missense c.2012 p.V671A 0.957 pfam_CBS_dom,smart_CBS_dom pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKB HGNC ENSG00000184908 151 0 0 173 10 5.46448 ARHGEF19 0 genome.wustl.edu 37 1 16529008 16529008 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16529008 16529008 T G SNP ARHGEF19 ENST00000270747 human ensembl 74_37 -1 known missense c.1969 p.S657R 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ENSG00000142632 62 0 0 66 7 9.58904 POGK 0 genome.wustl.edu 37 1 166818552 166818552 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 166818552 166818552 G A SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.736 p.A246T 0.999 pfam_Brinker_DNA-bd pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 65 0 0 49 8 14.0351 POGK 0 genome.wustl.edu 37 1 166818591 166818591 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 166818591 166818591 T C SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.775 p.F259L 0.976 superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 61 0 0 47 3 6 MAEL 0 genome.wustl.edu 37 1 166962057 166962057 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 166962057 166962057 T C SNP MAEL ENST00000367872 human ensembl 74_37 +1 known missense c.460 p.F154L 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 137 0 0 94 6 6 SZRD1 0 genome.wustl.edu 37 1 16721643 16721643 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16721643 16721643 C T SNP SZRD1 ENST00000375590 human ensembl 74_37 +1 known silent c.357 p.G119 0.660 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 34 0 0 43 6 12.2449 ADCY10 0 genome.wustl.edu 37 1 167844425 167844425 + Splice_Site SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 167844425 167844425 C A SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known splice_site c.1407-1 e12-1 1.000 - - - no_errors ADCY10 HGNC ENSG00000143199 75 0 0 58 6 9.375 TBX19 0 genome.wustl.edu 37 1 168250426 168250426 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 168250426 168250426 A C SNP TBX19 ENST00000367821 human ensembl 74_37 +1 known missense c.98 p.K33T 1.000 prints_TF_Brachyury pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX19 HGNC ENSG00000143178 108 1 0.917431 77 6 7.22892 CCDC181 0 genome.wustl.edu 37 1 169366587 169366587 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 169366587 169366587 T A SNP CCDC181 ENST00000367806 human ensembl 74_37 -1 known nonsense c.1258 p.K420* 1.000 NULL NULL - no_errors CCDC181 HGNC ENSG00000117477 73 0 0 48 9 15.7895 SLC19A2 0 genome.wustl.edu 37 1 169435124 169435124 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 169435124 169435124 T C SNP SLC19A2 ENST00000236137 human ensembl 74_37 -1 known missense c.1457 p.E486G 0.911 superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 114 0 0 62 6 8.82353 F5 0 genome.wustl.edu 37 1 169510886 169510886 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 169510886 169510886 A T SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.3442 p.S1148T 0.027 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 309 0 0 260 19 6.81004 F5 0 genome.wustl.edu 37 1 169519212 169519212 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 169519212 169519212 T G SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.1438 p.T480P 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 141 0 0 109 11 9.16667 SELE 0 genome.wustl.edu 37 1 169702011 169702011 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 169702011 169702011 T C SNP SELE ENST00000333360 human ensembl 74_37 -1 known missense c.166 p.I56V 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 123 0 0 111 13 10.4839 KIFAP3 0 genome.wustl.edu 37 1 170003615 170003615 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 170003615 170003615 T C SNP KIFAP3 ENST00000361580 human ensembl 74_37 -1 known missense c.640 p.I214V 0.996 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 69 0 0 41 4 8.88889 ESPNP 0 genome.wustl.edu 37 1 17023331 17023331 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17023331 17023331 C T SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.937 - - - no_errors ESPNP HGNC ENSG00000268869 70 0 0 69 4 5.47945 FMO1 0 genome.wustl.edu 37 1 171244546 171244546 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 171244546 171244546 T C SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known missense c.383 p.V128A 0.991 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 109 0 0 83 8 8.79121 VAMP4 0 genome.wustl.edu 37 1 171707551 171707551 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 171707551 171707551 G A SNP VAMP4 ENST00000236192 human ensembl 74_37 -1 known missense c.4 p.P2S 1.000 NULL pfam_Synaptobrevin,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP4 HGNC ENSG00000117533 89 0 0 59 7 10.6061 METTL13 0 genome.wustl.edu 37 1 171753044 171753044 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 171753044 171753044 G A SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known silent c.318 p.T106 0.000 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 72 0 0 62 4 6.06061 METTL13 0 genome.wustl.edu 37 1 171753267 171753267 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 171753267 171753267 G A SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known missense c.541 p.V181M 1.000 NULL pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC ENSG00000010165 59 0 0 56 5 8.19672 METTL13 0 genome.wustl.edu 37 1 171761377 171761377 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 171761377 171761377 T C SNP METTL13 ENST00000361735 human ensembl 74_37 +1 known splice_site c.1693+2 e6+2 1.000 - - - no_errors METTL13 HGNC ENSG00000010165 62 0 0 63 8 11.2676 DNM3 0 genome.wustl.edu 37 1 172357785 172357785 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 172357785 172357785 C T SNP DNM3 ENST00000358155 human ensembl 74_37 +1 known silent c.2358 p.G786 0.992 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM3 HGNC ENSG00000197959 33 0 0 31 4 11.4286 PIGC 0 genome.wustl.edu 37 1 172411759 172411759 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 172411759 172411759 A G SNP PIGC ENST00000258324 human ensembl 74_37 -1 known missense c.4 p.Y2H 0.327 pirsf_Plno_GlcNAc_GPI2 pfam_Plno_GlcNAc_GPI2,pirsf_Plno_GlcNAc_GPI2 - no_errors PIGC HGNC ENSG00000135845 183 0 0 165 11 6.25 FASLG 0 genome.wustl.edu 37 1 172635150 172635150 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 172635150 172635150 G A SNP FASLG ENST00000367721 human ensembl 74_37 +1 known silent c.840 p.K280 0.993 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C - no_errors FASLG HGNC ENSG00000117560 94 0 0 91 5 5.20833 ATP13A2 0 genome.wustl.edu 37 1 17313105 17313105 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17313105 17313105 C A SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known silent c.3258 p.A1086 0.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 27 0 0 18 7 28 ATP13A2 0 genome.wustl.edu 37 1 17316648 17316648 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17316648 17316648 A G SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.2386 p.S796P 0.001 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 50 0 0 67 6 8.21918 PRDX6 0 genome.wustl.edu 37 1 173456932 173456932 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 173456932 173456932 T A SNP PRDX6 ENST00000340385 human ensembl 74_37 +1 known missense c.605 p.F202Y 1.000 pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Peroxiredoxin_C,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors PRDX6 HGNC ENSG00000117592 68 0 0 82 8 8.88889 SLC9C2 0 genome.wustl.edu 37 1 173516834 173516834 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 173516834 173516834 T C SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.1551 p.I517M 1.000 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 98 0 0 59 17 22.3684 SDHB 0 genome.wustl.edu 37 1 17354302 17354302 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17354302 17354302 T C SNP SDHB ENST00000375499 human ensembl 74_37 -1 known missense c.482 p.D161G 1.000 superfamily_Helical_ferredxn,tigrfam_Succ_DH/fum_Rdtase_Fe-S superfamily_Helical_ferredxn,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Succ_DH/fum_Rdtase_Fe-S - no_errors SDHB HGNC ENSG00000117118 115 0 0 64 7 9.85915 CENPL 0 genome.wustl.edu 37 1 173780280 173780280 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 173780280 173780280 G A SNP CENPL ENST00000356198 human ensembl 74_37 -1 known missense c.158 p.S53L 0.420 NULL NULL - no_errors CENPL HGNC ENSG00000120334 132 0 0 95 7 6.86275 PADI2 0 genome.wustl.edu 37 1 17410313 17410313 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17410313 17410313 A T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.958 p.F320I 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 130 0 0 134 10 6.94444 RABGAP1L 0 genome.wustl.edu 37 1 174221683 174221683 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 174221683 174221683 T C SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.941 p.V314A 1.000 pfam_Kinesin-like pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 180 0 0 111 15 11.9048 GPR52 0 genome.wustl.edu 37 1 174417491 174417491 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 174417491 174417491 A T SNP GPR52 ENST00000367685 human ensembl 74_37 +1 known missense c.242 p.Q81L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 233 0 0 147 15 9.25926 RABGAP1L 0 genome.wustl.edu 37 1 174671273 174671273 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 174671273 174671273 G A SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known missense c.2048 p.S683N 0.054 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 127 0 0 98 11 10.0917 RABGAP1L 0 genome.wustl.edu 37 1 174671283 174671283 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 174671283 174671283 T C SNP RABGAP1L ENST00000251507 human ensembl 74_37 +1 known silent c.2058 p.S686 0.936 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 120 0 0 108 9 7.69231 TNR 0 genome.wustl.edu 37 1 175335099 175335099 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 175335099 175335099 A T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.2229 p.D743E 0.429 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 110 0 0 107 9 7.75862 TNR 0 genome.wustl.edu 37 1 175372423 175372423 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 175372423 175372423 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.829 p.A277T 0.223 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 30 0 0 39 5 11.3636 TNR 0 genome.wustl.edu 37 1 175372644 175372644 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 175372644 175372644 T C SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.608 p.Y203C 0.988 smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 125 0 0 129 9 6.52174 PADI3 0 genome.wustl.edu 37 1 17596816 17596816 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17596816 17596816 G A SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known silent c.741 p.E247 0.984 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 72 0 0 79 8 9.1954 PADI3 0 genome.wustl.edu 37 1 17609396 17609396 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17609396 17609396 T A SNP PADI3 ENST00000375460 human ensembl 74_37 +1 known missense c.1817 p.I606N 0.997 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI3 HGNC ENSG00000142619 19 0 0 20 4 16.6667 PAPPA2 0 genome.wustl.edu 37 1 176525547 176525547 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 176525547 176525547 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.89 p.R30H 0.166 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 144 0 0 77 38 33.0435 PAPPA2 0 genome.wustl.edu 37 1 176679181 176679181 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 176679181 176679181 A C SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3520 p.T1174P 0.490 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 159 0 0 129 15 10.4167 PAPPA2 0 genome.wustl.edu 37 1 176679281 176679281 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 176679281 176679281 T A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3620 p.V1207D 0.995 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 119 0 0 108 12 10 ASTN1 0 genome.wustl.edu 37 1 176838049 176838049 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 176838049 176838049 T C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.3602 p.Y1201C 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 118 1 0.840336 109 9 7.62712 ASTN1 0 genome.wustl.edu 37 1 176853605 176853605 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 176853605 176853605 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.3120 p.H1040 0.035 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 105 0 0 55 15 21.4286 PADI6 0 genome.wustl.edu 37 1 17720850 17720850 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17720850 17720850 A G SNP PADI6 ENST00000358481 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PADI6 HGNC ENSG00000256049 23 0 0 31 6 16.2162 RCC2 0 genome.wustl.edu 37 1 17747324 17747324 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17747324 17747324 T G SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.745 p.I249L 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 84 0 0 56 9 13.8462 RCC2 0 genome.wustl.edu 37 1 17749252 17749252 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 17749252 17749252 C T SNP RCC2 ENST00000375433 human ensembl 74_37 -1 known missense c.604 p.E202K 0.869 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,prints_Reg_chr_condens,pfscan_Reg_chr_condens - no_errors RCC2 HGNC ENSG00000179051 83 0 0 59 18 23.3766 RASAL2 0 genome.wustl.edu 37 1 178252710 178252710 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 178252710 178252710 C T SNP RASAL2 ENST00000367649 human ensembl 74_37 +1 known missense c.214 p.P72S 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 112 0 0 90 12 11.7647 AXDND1 0 genome.wustl.edu 37 1 179363085 179363085 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 179363085 179363085 A G SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.911 p.D304G 0.985 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 136 0 0 117 11 8.59375 CEP350 0 genome.wustl.edu 37 1 179983259 179983259 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 179983259 179983259 A G SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known silent c.1671 p.S557 0.001 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 30 0 0 26 3 10.3448 CEP350 0 genome.wustl.edu 37 1 180000515 180000515 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180000515 180000515 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.3611 p.R1204H 0.858 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 56 0 0 30 8 21.0526 CEP350 0 genome.wustl.edu 37 1 180064877 180064877 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180064877 180064877 G A SNP CEP350 ENST00000367607 human ensembl 74_37 +1 known missense c.8731 p.E2911K 0.996 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 115 0 0 66 7 9.58904 ARHGEF10L 0 genome.wustl.edu 37 1 18021710 18021710 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 18021710 18021710 G A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.3242 p.G1081D 1.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 50 0 0 56 6 9.67742 LHX4 0 genome.wustl.edu 37 1 180235620 180235620 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180235620 180235620 C A SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known nonsense c.342 p.C114* 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 55 0 0 67 4 5.6338 LOC100527964 0 genome.wustl.edu 37 1 180240896 180240896 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180240896 180240896 C T SNP LOC100527964 ENST00000415414 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1180C10.2 Clone_based_vega_gene ENSG00000230124 80 0 0 75 17 18.4783 LHX4 0 genome.wustl.edu 37 1 180243369 180243369 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180243369 180243369 C T SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known silent c.828 p.N276 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 107 0 0 100 13 11.5044 LHX4 0 genome.wustl.edu 37 1 180243511 180243511 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180243511 180243511 G A SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.970 p.A324T 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 207 0 0 201 14 6.51163 ACBD6 0 genome.wustl.edu 37 1 180399357 180399357 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180399357 180399357 C T SNP ACBD6 ENST00000367595 human ensembl 74_37 -1 known missense c.425 p.G142D 1.000 NULL pfam_Acyl-CoA-binding_protein,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl-CoA-binding_protein,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Acyl-CoA-binding_protein,prints_Ankyrin_rpt - no_errors ACBD6 HGNC ENSG00000135847 145 0 0 98 10 9.25926 STX6 0 genome.wustl.edu 37 1 180953816 180953816 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 180953816 180953816 T A SNP STX6 ENST00000258301 human ensembl 74_37 -1 known missense c.688 p.S230C 1.000 NULL pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX6 HGNC ENSG00000135823 65 0 0 41 5 10.8696 MR1 0 genome.wustl.edu 37 1 181022773 181022773 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 181022773 181022773 G T SNP MR1 ENST00000367580 human ensembl 74_37 +1 known silent c.945 p.L315 0.065 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors MR1 HGNC ENSG00000153029 157 1 0.632911 128 13 9.21986 IER5 0 genome.wustl.edu 37 1 181059004 181059004 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 181059004 181059004 A G SNP IER5 ENST00000367577 human ensembl 74_37 +1 known silent c.966 p.T322 0.993 pfam_IER pfam_IER - no_errors IER5 HGNC ENSG00000162783 27 0 0 22 6 21.4286 CACNA1E 0 genome.wustl.edu 37 1 181764126 181764126 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 181764126 181764126 C T SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.6154 p.R2052W 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 57 0 0 53 5 8.62069 GLUL 0 genome.wustl.edu 37 1 182355457 182355457 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 182355457 182355457 A G SNP GLUL ENST00000311223 human ensembl 74_37 -1 known missense c.409 p.Y137H 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 173 0 0 176 17 8.80829 RNASEL 0 genome.wustl.edu 37 1 182550471 182550471 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 182550471 182550471 A G SNP RNASEL ENST00000367559 human ensembl 74_37 -1 known silent c.1794 p.N598 0.863 pfam_KEN_dom pfam_Ankyrin_rpt,pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors RNASEL HGNC ENSG00000135828 168 0 0 115 10 8 DHX9 0 genome.wustl.edu 37 1 182856359 182856359 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 182856359 182856359 C T SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known silent c.3603 p.G1201 0.019 NULL pfam_dsRNA-bd_dom,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_dsRNA-bd_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom - no_errors DHX9 HGNC ENSG00000135829 140 0 0 121 9 6.92308 LAMC1 0 genome.wustl.edu 37 1 183086546 183086546 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 183086546 183086546 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known silent c.1656 p.D552 0.139 pfscan_Laminin_B_type_IV pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 43 0 0 31 5 13.8889 LAMC2 0 genome.wustl.edu 37 1 183208692 183208692 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 183208692 183208692 T C SNP LAMC2 ENST00000264144 human ensembl 74_37 +1 known silent c.3063 p.I1021 0.296 NULL pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin - no_errors LAMC2 HGNC ENSG00000058085 89 0 0 98 9 8.41121 SMG7 0 genome.wustl.edu 37 1 183506324 183506324 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 183506324 183506324 A C SNP SMG7 ENST00000507469 human ensembl 74_37 +1 known missense c.1208 p.H403P 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 131 0 0 102 10 8.92857 EDEM3 0 genome.wustl.edu 37 1 184663337 184663337 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 184663337 184663337 G A SNP EDEM3 ENST00000318130 human ensembl 74_37 -1 known missense c.2659 p.L887F 0.113 NULL pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 77 0 0 59 6 9.23077 FAM129A 0 genome.wustl.edu 37 1 184764990 184764990 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 184764990 184764990 T C SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known silent c.1908 p.K636 0.010 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 98 0 0 90 7 7.21649 FAM129A 0 genome.wustl.edu 37 1 184765096 184765096 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 184765096 184765096 G T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.1802 p.A601D 0.000 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 111 0 0 106 7 6.19469 TRMT1L 0 genome.wustl.edu 37 1 185089303 185089303 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 185089303 185089303 A T SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known missense c.2050 p.F684I 1.000 pfam_TRM1 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 194 0 0 145 16 9.93789 IVNS1ABP 0 genome.wustl.edu 37 1 185267079 185267079 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 185267079 185267079 A G SNP IVNS1ABP ENST00000459929 human ensembl 74_37 -1 known rna NULL NULL 0.623 - - - no_errors IVNS1ABP HGNC ENSG00000116679 43 0 0 31 4 11.4286 HMCN1 0 genome.wustl.edu 37 1 185970779 185970779 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 185970779 185970779 C A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.4254 p.L1418 0.997 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 111 0 0 80 10 11.1111 HMCN1 0 genome.wustl.edu 37 1 186055437 186055437 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186055437 186055437 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.8944 p.I2982V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 118 0 0 78 8 9.30233 HMCN1 0 genome.wustl.edu 37 1 186114613 186114613 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186114613 186114613 G A SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14345 p.R4782H 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 49 0 0 34 6 15 HMCN1 0 genome.wustl.edu 37 1 186121905 186121905 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186121905 186121905 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.14920 p.I4974V 0.008 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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 143 0 0 111 13 10.4839 HMCN1 0 genome.wustl.edu 37 1 186147639 186147639 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186147639 186147639 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.16035 p.Q5345 0.974 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-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 217 0 0 185 13 6.56566 HMCN1 0 genome.wustl.edu 37 1 186147733 186147733 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186147733 186147733 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16129 p.P5377S 1.000 superfamily_Growth_fac_rcpt_N_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 224 0 0 220 12 5.17241 HMCN1 0 genome.wustl.edu 37 1 186151335 186151335 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186151335 186151335 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16330 p.H5444Y 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-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 133 0 0 63 22 25.8824 HMCN1 0 genome.wustl.edu 37 1 186157083 186157083 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186157083 186157083 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.16483 p.S5495R 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-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 113 0 0 118 9 7.08661 TPR 0 genome.wustl.edu 37 1 186283791 186283791 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186283791 186283791 C T SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.7006 p.V2336I 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 92 0 0 55 17 23.6111 TPR 0 genome.wustl.edu 37 1 186287715 186287715 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186287715 186287715 T C SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.6685 p.T2229A 0.536 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 84 0 0 53 8 13.1148 TPR 0 genome.wustl.edu 37 1 186291522 186291522 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186291522 186291522 T G SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.6389 p.E2130A 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 61 0 0 41 4 8.88889 TPR 0 genome.wustl.edu 37 1 186302287 186302287 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186302287 186302287 G A SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.5422 p.R1808W 0.997 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 71 0 0 54 6 10 TPR 0 genome.wustl.edu 37 1 186304584 186304584 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186304584 186304584 A G SNP TPR ENST00000367478 human ensembl 74_37 -1 known silent c.4797 p.I1599 1.000 superfamily_Prefoldin pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 164 0 0 127 8 5.92593 TPR 0 genome.wustl.edu 37 1 186315342 186315342 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186315342 186315342 C A SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.3021 p.K1007N 0.530 superfamily_Prefoldin pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 103 0 0 72 9 11.1111 C1orf27 0 genome.wustl.edu 37 1 186386684 186386684 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186386684 186386684 A G SNP C1orf27 ENST00000287859 human ensembl 74_37 +1 known missense c.1195 p.S399G 0.973 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 32 0 0 14 3 17.6471 PLA2G4A 0 genome.wustl.edu 37 1 186919835 186919835 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 186919835 186919835 T C SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known silent c.1311 p.S437 0.984 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 66 0 0 44 4 8.33333 BRINP3 0 genome.wustl.edu 37 1 190067601 190067601 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 190067601 190067601 G A SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1848 p.N616 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 318 0 0 265 18 6.36042 BRINP3 0 genome.wustl.edu 37 1 190129803 190129803 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 190129803 190129803 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1179 p.R393 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 127 0 0 93 9 8.82353 BRINP3 0 genome.wustl.edu 37 1 190130020 190130020 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 190130020 190130020 T C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.962 p.D321G 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 96 0 0 55 21 27.6316 TROVE2 0 genome.wustl.edu 37 1 193038252 193038252 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 193038252 193038252 A G SNP TROVE2 ENST00000367441 human ensembl 74_37 +1 known missense c.68 p.Y23C 0.014 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 85 0 0 57 4 6.55738 CDC73 0 genome.wustl.edu 37 1 193094253 193094253 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 193094253 193094253 A G SNP CDC73 ENST00000367435 human ensembl 74_37 +1 known missense c.143 p.E48G 1.000 NULL pfam_RNA_pol_access_fac_Cdc73 - no_errors CDC73 HGNC ENSG00000134371 67 0 0 42 5 10.6383 UBR4 0 genome.wustl.edu 37 1 19403330 19403330 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19403330 19403330 C T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.15454 p.D5152N 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 165 0 0 135 10 6.89655 UBR4 0 genome.wustl.edu 37 1 19440266 19440266 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19440266 19440266 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.11384 p.Y3795C 1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 125 0 0 136 12 8.10811 UBR4 0 genome.wustl.edu 37 1 19447850 19447850 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19447850 19447850 C A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.9974 p.C3325F 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 86 0 0 59 13 18.0556 UBR4 0 genome.wustl.edu 37 1 19467907 19467907 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19467907 19467907 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.8422 p.P2808S 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 90 0 0 67 7 9.45946 UBR4 0 genome.wustl.edu 37 1 19480342 19480342 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19480342 19480342 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.6550 p.T2184A 0.999 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 125 1 0.793651 120 8 6.25 EMC1 0 genome.wustl.edu 37 1 19566468 19566468 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19566468 19566468 T C SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known silent c.798 p.L266 0.945 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 33 0 0 28 3 9.67742 MRTO4 0 genome.wustl.edu 37 1 19584466 19584466 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19584466 19584466 G A SNP MRTO4 ENST00000330263 human ensembl 74_37 +1 known missense c.481 p.A161T 0.898 NULL pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC ENSG00000053372 53 0 0 67 4 5.6338 AKR7A2 0 genome.wustl.edu 37 1 19633822 19633822 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19633822 19633822 T C SNP AKR7A2 ENST00000235835 human ensembl 74_37 -1 known missense c.674 p.Y225C 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A2 HGNC ENSG00000053371 59 0 0 62 5 7.46269 PQLC2 0 genome.wustl.edu 37 1 19653883 19653883 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19653883 19653883 G A SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.781 p.G261S 1.000 NULL superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 35 0 0 42 6 12.5 PQLC2 0 genome.wustl.edu 37 1 19655099 19655099 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 19655099 19655099 A G SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.838 p.T280A 0.000 NULL superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 26 0 0 25 3 10.7143 CFHR4 0 genome.wustl.edu 37 1 196883700 196883700 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 196883700 196883700 T C SNP CFHR4 ENST00000367416 human ensembl 74_37 +1 known missense c.1253 p.L418S 0.267 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC ENSG00000134365 96 0 0 100 8 7.40741 ASPM 0 genome.wustl.edu 37 1 197071893 197071893 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197071893 197071893 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.6488 p.Y2163C 0.955 superfamily_P-loop_NTPase,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 169 1 0.588235 111 10 8.26446 ASPM 0 genome.wustl.edu 37 1 197093357 197093357 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197093357 197093357 A G SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.3273 p.D1091 0.000 superfamily_CH-domain,superfamily_ARM-type_fold pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 123 0 0 63 5 7.35294 ASPM 0 genome.wustl.edu 37 1 197094055 197094055 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197094055 197094055 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.3113 p.D1038G 0.997 superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 216 1 0.460829 180 10 5.26316 ASPM 0 genome.wustl.edu 37 1 197097627 197097627 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197097627 197097627 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.2929 p.R977C 1.000 superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 123 0 0 65 16 19.7531 ASPM 0 genome.wustl.edu 37 1 197099091 197099091 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197099091 197099091 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.2583 p.I861M 0.974 superfamily_CH-domain pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 116 0 0 107 6 5.30973 ASPM 0 genome.wustl.edu 37 1 197111869 197111869 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197111869 197111869 T C SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.1513 p.T505A 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 204 0 0 170 10 5.55556 CRB1 0 genome.wustl.edu 37 1 197390140 197390140 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197390140 197390140 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.1182 p.C394 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 147 0 0 103 7 6.36364 LHX9 0 genome.wustl.edu 37 1 197889141 197889141 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197889141 197889141 G A SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known missense c.214 p.A72T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 189 1 0.526316 169 15 8.15217 LHX9 0 genome.wustl.edu 37 1 197889164 197889164 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 197889164 197889164 G A SNP LHX9 ENST00000367387 human ensembl 74_37 +1 known silent c.237 p.S79 0.699 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX9 HGNC ENSG00000143355 227 0 0 195 18 8.4507 NEK7 0 genome.wustl.edu 37 1 198288607 198288607 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 198288607 198288607 T G SNP NEK7 ENST00000367385 human ensembl 74_37 +1 known silent c.864 p.V288 0.567 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK7 HGNC ENSG00000151414 107 0 0 77 9 10.4651 PTPRC 0 genome.wustl.edu 37 1 198711111 198711111 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 198711111 198711111 T C SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known silent c.2517 p.N839 0.109 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 42 0 0 32 5 13.5135 KIF14 0 genome.wustl.edu 37 1 200539049 200539049 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 200539049 200539049 T A SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known silent c.3651 p.S1217 0.223 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 109 0 0 82 5 5.74713 KIF14 0 genome.wustl.edu 37 1 200558367 200558367 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 200558367 200558367 A G SNP KIF14 ENST00000367350 human ensembl 74_37 -1 known missense c.3092 p.M1031T 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 128 0 0 98 9 8.41121 C1orf106 0 genome.wustl.edu 37 1 200880842 200880842 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 200880842 200880842 C T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known silent c.1476 p.R492 0.150 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 59 0 0 60 11 15.493 KIF21B 0 genome.wustl.edu 37 1 200974805 200974805 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 200974805 200974805 G T SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known silent c.465 p.I155 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 139 0 0 131 12 8.39161 NAV1 0 genome.wustl.edu 37 1 201618328 201618328 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 201618328 201618328 C T SNP NAV1 ENST00000367296 human ensembl 74_37 +1 known missense c.532 p.P178S 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 34 0 0 39 5 11.3636 IPO9 0 genome.wustl.edu 37 1 201843974 201843974 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 201843974 201843974 A G SNP IPO9 ENST00000361565 human ensembl 74_37 +1 known missense c.2848 p.M950V 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 157 0 0 123 14 10.219 ELF3 0 genome.wustl.edu 37 1 201982112 201982112 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 201982112 201982112 C T SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known silent c.636 p.S212 0.834 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF3 HGNC ENSG00000163435 37 0 0 30 3 9.09091 GPR37L1 0 genome.wustl.edu 37 1 202097334 202097334 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 202097334 202097334 G A SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.1096 p.V366M 0.780 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 78 0 0 70 5 6.66667 LGR6 0 genome.wustl.edu 37 1 202287192 202287192 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 202287192 202287192 C G SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.1761 p.F587L 0.709 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 115 0 0 104 12 10.3448 PPP1R12B 0 genome.wustl.edu 37 1 202464568 202464568 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 202464568 202464568 A T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.2293 p.T765S 0.992 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 47 0 0 57 5 8.06452 PPP1R12B 0 genome.wustl.edu 37 1 202464749 202464749 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 202464749 202464749 G A SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.2387 p.R796Q 1.000 pirsf_Pase-1_reg_su_12A/B/C_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 67 0 0 41 9 18 PPFIA4 0 genome.wustl.edu 37 1 203033065 203033065 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 203033065 203033065 G A SNP PPFIA4 ENST00000414050 human ensembl 74_37 +1 known missense c.2105 p.R702H 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA4 HGNC ENSG00000143847 46 0 0 43 12 21.8182 MYBPH 0 genome.wustl.edu 37 1 203139459 203139459 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 203139459 203139459 C T SNP MYBPH ENST00000255416 human ensembl 74_37 -1 known silent c.1053 p.S351 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPH HGNC ENSG00000133055 49 0 0 43 11 20.3704 CHIT1 0 genome.wustl.edu 37 1 203186215 203186215 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 203186215 203186215 T G SNP CHIT1 ENST00000367229 human ensembl 74_37 -1 known missense c.1203 p.K401N 0.000 NULL pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIT1 HGNC ENSG00000133063 74 0 0 77 6 7.22892 SNORA77 0 genome.wustl.edu 37 1 203698783 203698783 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 203698783 203698783 C T SNP SNORA77 ENST00000408716 human ensembl 74_37 +1 known rna NULL NULL 0.623 - - - no_errors SNORA77 HGNC ENSG00000221643 18 0 0 29 5 14.7059 ZC3H11A 0 genome.wustl.edu 37 1 203820223 203820223 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 203820223 203820223 T C SNP ZC3H11A ENST00000332127 human ensembl 74_37 +1 known silent c.2145 p.T715 0.935 NULL smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 244 0 0 180 27 13.0435 SOX13 0 genome.wustl.edu 37 1 204083710 204083710 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204083710 204083710 C A SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.395 p.S132Y 0.819 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 89 0 0 74 10 11.9048 ETNK2 0 genome.wustl.edu 37 1 204115797 204115797 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204115797 204115797 G A SNP ETNK2 ENST00000367201 human ensembl 74_37 -1 known missense c.614 p.T205M 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors ETNK2 HGNC ENSG00000143845 130 0 0 95 23 19.4915 PLEKHA6 0 genome.wustl.edu 37 1 204216588 204216588 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204216588 204216588 C T SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.1825 p.A609T 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 29 0 0 29 15 34.0909 PLEKHA6 0 genome.wustl.edu 37 1 204217956 204217956 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204217956 204217956 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.1817 p.A606V 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 52 0 0 50 6 10.7143 PLEKHA6 0 genome.wustl.edu 37 1 204234146 204234146 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204234146 204234146 C T SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.305 p.G102D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 157 0 0 145 9 5.84416 PIK3C2B 0 genome.wustl.edu 37 1 204401362 204401362 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204401362 204401362 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.4121 p.R1374H 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 149 0 0 126 29 18.7097 LRRN2 0 genome.wustl.edu 37 1 204587072 204587072 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204587072 204587072 A G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.2049 p.S683 0.068 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 130 0 0 114 11 8.8 LRRN2 0 genome.wustl.edu 37 1 204588100 204588100 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204588100 204588100 T C SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.1021 p.M341V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 31 0 0 32 11 25.5814 LRRN2 0 genome.wustl.edu 37 1 204588840 204588840 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204588840 204588840 T C SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.281 p.N94S 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 82 0 0 83 10 10.7527 LRRN2 0 genome.wustl.edu 37 1 204588931 204588931 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204588931 204588931 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.190 p.P64S 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 61 0 0 70 9 11.3924 PLA2G2C 0 genome.wustl.edu 37 1 20490512 20490512 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 20490512 20490512 C A SNP PLA2G2C ENST00000247992 human ensembl 74_37 -1 known missense c.425 p.R142M 0.021 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2C HGNC ENSG00000187980 26 0 0 25 4 13.7931 NFASC 0 genome.wustl.edu 37 1 204923419 204923419 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204923419 204923419 G A SNP NFASC ENST00000367172 human ensembl 74_37 +1 known missense c.319 p.G107R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 37 0 0 44 10 18.5185 CNTN2 0 genome.wustl.edu 37 1 205033516 205033516 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205033516 205033516 T A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.1307 p.I436N 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 175 0 0 134 37 21.6374 TMCC2 0 genome.wustl.edu 37 1 205241020 205241020 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205241020 205241020 G T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known missense c.1898 p.G633V 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 93 0 0 93 11 10.5769 LEMD1 0 genome.wustl.edu 37 1 205388445 205388445 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205388445 205388445 G T SNP LEMD1 ENST00000367153 human ensembl 74_37 -1 known missense c.118 p.Q40K 0.755 pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD1 HGNC ENSG00000186007 121 0 0 81 23 22.1154 LEMD1 0 genome.wustl.edu 37 1 205388453 205388453 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205388453 205388453 T C SNP LEMD1 ENST00000367153 human ensembl 74_37 -1 known missense c.110 p.K37R 0.981 pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD1 HGNC ENSG00000186007 112 0 0 98 11 10.0917 CDK18 0 genome.wustl.edu 37 1 205496974 205496974 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205496974 205496974 T C SNP CDK18 ENST00000506784 human ensembl 74_37 +1 known missense c.872 p.I291T 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 CDK18 HGNC ENSG00000117266 82 0 0 69 8 10.3896 MFSD4 0 genome.wustl.edu 37 1 205561362 205561362 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205561362 205561362 G A SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known missense c.1244 p.S415N 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 44 0 0 28 15 34.8837 MFSD4 0 genome.wustl.edu 37 1 205568338 205568338 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205568338 205568338 T C SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known missense c.1448 p.L483S 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 153 0 0 126 10 7.35294 SLC45A3 0 genome.wustl.edu 37 1 205633776 205633776 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205633776 205633776 C A SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known missense c.9 p.Q3H 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 74 0 0 102 8 7.27273 NUCKS1 0 genome.wustl.edu 37 1 205689743 205689743 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 205689743 205689743 G A SNP NUCKS1 ENST00000367142 human ensembl 74_37 -1 known missense c.268 p.R90C 1.000 NULL NULL - no_errors NUCKS1 HGNC ENSG00000069275 103 0 0 75 10 11.7647 IKBKE 0 genome.wustl.edu 37 1 206664989 206664989 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 206664989 206664989 T A SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.1742 p.F581Y 0.956 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 IKBKE HGNC ENSG00000143466 58 0 0 44 7 13.7255 CR1 0 genome.wustl.edu 37 1 207753708 207753708 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 207753708 207753708 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.5060 p.S1687F 0.002 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 135 0 0 114 13 10.2362 CD46 0 genome.wustl.edu 37 1 207963659 207963659 + RNA SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 207963659 207963659 A C SNP CD46 ENST00000488596 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors CD46 HGNC ENSG00000117335 78 0 0 60 4 6.25 PLXNA2 0 genome.wustl.edu 37 1 208257862 208257862 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 208257862 208257862 T C SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2161 p.T721A 1.000 NULL 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 74 0 0 81 5 5.81395 LAMB3 0 genome.wustl.edu 37 1 209799327 209799327 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 209799327 209799327 T A SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known nonsense c.1642 p.K548* 0.994 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 42 0 0 38 4 9.52381 KIF17 0 genome.wustl.edu 37 1 20998558 20998558 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 20998558 20998558 C T SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.2595 p.Q865 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 60 0 0 74 4 5.12821 KIF17 0 genome.wustl.edu 37 1 21044008 21044008 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 21044008 21044008 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.192 p.T64 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,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 80 0 0 69 7 9.21053 HHAT 0 genome.wustl.edu 37 1 210637971 210637971 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 210637971 210637971 A G SNP HHAT ENST00000391905 human ensembl 74_37 +1 known missense c.979 p.T327A 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHAT HGNC ENSG00000054392 66 0 0 79 10 11.236 HP1BP3 0 genome.wustl.edu 37 1 21097562 21097562 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 21097562 21097562 C A SNP HP1BP3 ENST00000312239 human ensembl 74_37 -1 known missense c.515 p.C172F 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors HP1BP3 HGNC ENSG00000127483 117 1 0.847458 87 7 7.44681 EIF4G3 0 genome.wustl.edu 37 1 21144005 21144005 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 21144005 21144005 A T SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.4245 p.S1415R 0.920 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 112 0 0 62 8 11.4286 RCOR3 0 genome.wustl.edu 37 1 211451523 211451523 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 211451523 211451523 G T SNP RCOR3 ENST00000367005 human ensembl 74_37 +1 known missense c.407 p.R136M 1.000 superfamily_Homeodomain-like pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 122 0 0 87 11 11.2245 EIF4G3 0 genome.wustl.edu 37 1 21226422 21226422 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 21226422 21226422 C A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.1617 p.E539D 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 206 1 0.483092 154 14 8.33333 DTL 0 genome.wustl.edu 37 1 212273797 212273797 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 212273797 212273797 G A SNP DTL ENST00000366991 human ensembl 74_37 +1 known missense c.1465 p.V489I 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DTL HGNC ENSG00000143476 76 0 0 70 4 5.40541 TMEM206 0 genome.wustl.edu 37 1 212560349 212560349 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 212560349 212560349 A G SNP TMEM206 ENST00000535273 human ensembl 74_37 -1 known missense c.410 p.L137P 1.000 NULL NULL - no_errors TMEM206 HGNC ENSG00000065600 105 0 0 107 9 7.75862 FAM71A 0 genome.wustl.edu 37 1 212799538 212799538 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 212799538 212799538 G A SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known missense c.1319 p.R440H 0.001 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 28 0 0 26 7 21.2121 TATDN3 0 genome.wustl.edu 37 1 212976085 212976085 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 212976085 212976085 C T SNP TATDN3 ENST00000366974 human ensembl 74_37 +1 known missense c.301 p.R101W 0.984 pfam_TatD_family,pirsf_TatD_family pfam_TatD_family,pirsf_TatD_family - no_errors TATDN3 HGNC ENSG00000203705 74 0 0 42 12 22.2222 RPS6KC1 0 genome.wustl.edu 37 1 213302945 213302945 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 213302945 213302945 C A SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.548 p.A183D 1.000 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 131 0 0 94 6 6 PROX1 0 genome.wustl.edu 37 1 214170459 214170459 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 214170459 214170459 C T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.581 p.A194V 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 66 0 0 52 4 7.14286 PTPN14 0 genome.wustl.edu 37 1 214557227 214557227 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 214557227 214557227 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.1971 p.T657 0.128 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 43 0 0 29 11 27.5 CENPF 0 genome.wustl.edu 37 1 214813868 214813868 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 214813868 214813868 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.2187 p.T729 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 75 0 0 58 9 13.4328 CENPF 0 genome.wustl.edu 37 1 214816273 214816273 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 214816273 214816273 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.4592 p.L1531P 0.008 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 76 0 0 47 17 26.5625 KCNK2 0 genome.wustl.edu 37 1 215342543 215342543 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 215342543 215342543 A T SNP KCNK2 ENST00000470177 human ensembl 74_37 +1 known missense c.359 p.D120V 0.479 prints_2pore_dom_K_chnl_TREK prints_2pore_dom_K_chnl_TREK - no_errors KCNK2 HGNC ENSG00000082482 114 0 0 72 8 10 KCTD3 0 genome.wustl.edu 37 1 215751371 215751371 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 215751371 215751371 T C SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.344 p.L115S 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 207 0 0 147 14 8.69565 USH2A 0 genome.wustl.edu 37 1 215901647 215901647 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 215901647 215901647 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.11791 p.T3931A 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 102 1 0.970874 79 7 8.13953 USH2A 0 genome.wustl.edu 37 1 216262383 216262383 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 216262383 216262383 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known silent c.4857 p.G1619 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 138 0 0 99 6 5.71429 USH2A 0 genome.wustl.edu 37 1 216369957 216369957 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 216369957 216369957 A G SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.4189 p.Y1397H 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 107 1 0.925926 62 4 6.06061 USH2A 0 genome.wustl.edu 37 1 216371840 216371840 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 216371840 216371840 T C SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3898 p.S1300G 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 89 0 0 70 9 11.3924 GPATCH2 0 genome.wustl.edu 37 1 217793422 217793422 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 217793422 217793422 C T SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known missense c.476 p.R159H 1.000 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 175 0 0 152 8 5 ALPL 0 genome.wustl.edu 37 1 21887136 21887136 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 21887136 21887136 A G SNP ALPL ENST00000374832 human ensembl 74_37 +1 known missense c.79 p.K27E 0.887 superfamily_Alkaline_phosphatase_core pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPL HGNC ENSG00000162551 89 0 0 103 9 8.03571 RAP1GAP 0 genome.wustl.edu 37 1 21934800 21934800 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 21934800 21934800 A G SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known missense c.1394 p.L465P 1.000 NULL pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 70 0 0 59 5 7.8125 SLC30A10 0 genome.wustl.edu 37 1 220100394 220100394 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 220100394 220100394 T C SNP SLC30A10 ENST00000366926 human ensembl 74_37 -1 known missense c.694 p.K232E 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 116 0 0 62 20 24.3902 EPRS 0 genome.wustl.edu 37 1 220193341 220193341 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 220193341 220193341 T C SNP EPRS ENST00000366923 human ensembl 74_37 -1 known silent c.1338 p.L446 0.150 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 102 0 0 85 9 9.57447 EPRS 0 genome.wustl.edu 37 1 220203728 220203728 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 220203728 220203728 C T SNP EPRS ENST00000366923 human ensembl 74_37 -1 known missense c.623 p.G208D 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-synth_arc/euk pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk - no_errors EPRS HGNC ENSG00000136628 89 0 0 51 20 28.169 IARS2 0 genome.wustl.edu 37 1 220275602 220275602 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 220275602 220275602 T C SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.682 p.Y228H 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 139 0 0 85 11 11.4583 IARS2 0 genome.wustl.edu 37 1 220315249 220315249 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 220315249 220315249 A G SNP IARS2 ENST00000302637 human ensembl 74_37 +1 known missense c.2519 p.H840R 1.000 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS2 HGNC ENSG00000067704 127 0 0 100 9 8.25688 RAB3GAP2 0 genome.wustl.edu 37 1 220324707 220324707 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 220324707 220324707 T C SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known silent c.4068 p.T1356 0.992 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 201 0 0 161 17 9.55056 RAB3GAP2 0 genome.wustl.edu 37 1 220325021 220325021 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 220325021 220325021 T C SNP RAB3GAP2 ENST00000358951 human ensembl 74_37 -1 known missense c.3953 p.H1318R 0.972 NULL superfamily_WD40_repeat_dom - no_errors RAB3GAP2 HGNC ENSG00000118873 160 0 0 131 20 13.245 HLX 0 genome.wustl.edu 37 1 221053336 221053336 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 221053336 221053336 T C SNP HLX ENST00000366903 human ensembl 74_37 +1 known missense c.137 p.I46T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 35 0 0 26 5 16.129 LDLRAD2 0 genome.wustl.edu 37 1 22147988 22147988 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 22147988 22147988 C T SNP LDLRAD2 ENST00000344642 human ensembl 74_37 +1 known missense c.689 p.T230I 0.003 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 72 0 0 71 5 6.57895 HSPG2 0 genome.wustl.edu 37 1 22150131 22150131 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 22150131 22150131 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.12981 p.N4327 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 103 0 0 76 29 27.619 HSPG2 0 genome.wustl.edu 37 1 22154901 22154901 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 22154901 22154901 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.12256 p.R4086W 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 46 0 0 48 12 20 DUSP10 0 genome.wustl.edu 37 1 221879722 221879722 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 221879722 221879722 C T SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.898 p.A300T 0.994 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 90 0 0 86 16 15.6863 DUSP10 0 genome.wustl.edu 37 1 221912385 221912385 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 221912385 221912385 T C SNP DUSP10 ENST00000366899 human ensembl 74_37 -1 known missense c.702 p.I234M 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP - no_errors DUSP10 HGNC ENSG00000143507 150 0 0 130 10 7.14286 HHIPL2 0 genome.wustl.edu 37 1 222717326 222717326 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 222717326 222717326 T C SNP HHIPL2 ENST00000343410 human ensembl 74_37 -1 known missense c.527 p.D176G 0.998 pfam_Folate_rcpt-like pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC ENSG00000143512 86 0 0 93 5 5.10204 TLR5 0 genome.wustl.edu 37 1 223285929 223285929 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 223285929 223285929 G A SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.445 p.R149C 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 95 0 0 66 5 7.04225 TP53BP2 0 genome.wustl.edu 37 1 223971921 223971921 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 223971921 223971921 C A SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known nonsense c.3259 p.G1087* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 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_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 169 1 0.588235 155 18 10.4046 FBXO28 0 genome.wustl.edu 37 1 224340859 224340859 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 224340859 224340859 T C SNP FBXO28 ENST00000366862 human ensembl 74_37 +1 known missense c.532 p.Y178H 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO28 HGNC ENSG00000143756 119 0 0 89 11 11 WDR26 0 genome.wustl.edu 37 1 224599216 224599216 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 224599216 224599216 T C SNP WDR26 ENST00000414423 human ensembl 74_37 -1 known silent c.1071 p.E357 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC ENSG00000162923 90 0 0 66 12 15.3846 CNIH3 0 genome.wustl.edu 37 1 224804931 224804931 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 224804931 224804931 G A SNP CNIH3 ENST00000272133 human ensembl 74_37 +1 known missense c.55 p.A19T 0.912 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC ENSG00000143786 292 0 0 237 22 8.49421 EPHX1 0 genome.wustl.edu 37 1 226030158 226030158 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 226030158 226030158 G T SNP EPHX1 ENST00000272167 human ensembl 74_37 +1 known missense c.1023 p.E341D 1.000 pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase pfam_Epoxide_hydro_N,pfam_AB_hydrolase_1,pirsf_Epoxide_hydrolase,prints_Epox_hydrolase-like - no_errors EPHX1 HGNC ENSG00000143819 145 1 0.684932 144 33 18.6441 PARP1 0 genome.wustl.edu 37 1 226550840 226550840 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 226550840 226550840 T C SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known silent c.2808 p.S936 0.000 pfam_Poly(ADP-ribose)pol_cat_dom,pirsf_NAD_ADPRT,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 104 0 0 104 12 10.3448 PARP1 0 genome.wustl.edu 37 1 226578278 226578278 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 226578278 226578278 C T SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known silent c.450 p.Q150 1.000 pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 55 0 0 42 4 8.69565 ADCK3 0 genome.wustl.edu 37 1 227152890 227152890 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 227152890 227152890 G A SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.367 p.G123R 0.990 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 50 0 0 35 10 22.2222 ZNF678 0 genome.wustl.edu 37 1 227843127 227843127 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 227843127 227843127 T C SNP ZNF678 ENST00000397097 human ensembl 74_37 +1 known silent c.1341 p.L447 0.008 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 ZNF678 HGNC ENSG00000181450 52 0 0 24 6 20 WNT3A 0 genome.wustl.edu 37 1 228238548 228238548 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228238548 228238548 T C SNP WNT3A ENST00000366753 human ensembl 74_37 +1 known missense c.505 p.F169L 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt3 - no_errors WNT3A HGNC ENSG00000154342 44 0 0 47 5 9.61538 ZBTB40 0 genome.wustl.edu 37 1 22832620 22832620 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 22832620 22832620 A G SNP ZBTB40 ENST00000375647 human ensembl 74_37 +1 known missense c.1246 p.T416A 0.999 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB40 HGNC ENSG00000184677 85 0 0 61 5 7.57576 IBA57 0 genome.wustl.edu 37 1 228362488 228362488 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228362488 228362488 G A SNP IBA57 ENST00000366711 human ensembl 74_37 +1 known missense c.437 p.R146Q 1.000 pfam_GCV_T_N pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC ENSG00000181873 21 0 0 19 3 13.6364 OBSCN 0 genome.wustl.edu 37 1 228431128 228431128 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228431128 228431128 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.3174 p.G1058 0.404 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 35 0 0 40 6 13.0435 OBSCN 0 genome.wustl.edu 37 1 228466627 228466627 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228466627 228466627 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.7097 p.V2366A 0.980 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 60 0 0 57 3 5 OBSCN 0 genome.wustl.edu 37 1 228468349 228468349 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228468349 228468349 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.8049 p.G2683 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 88 0 0 80 5 5.88235 OBSCN 0 genome.wustl.edu 37 1 228476538 228476538 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228476538 228476538 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.10288 p.Y3430H 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 64 0 0 65 4 5.7971 OBSCN 0 genome.wustl.edu 37 1 228482590 228482590 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228482590 228482590 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.11505 p.K3835N 1.000 pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 145 1 0.684932 132 13 8.96552 OBSCN 0 genome.wustl.edu 37 1 228523973 228523973 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228523973 228523973 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known splice_site c.16537+2 e63+2 0.997 - - - no_errors OBSCN HGNC ENSG00000154358 79 0 0 82 6 6.81818 RHOU 0 genome.wustl.edu 37 1 228879123 228879123 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228879123 228879123 A C SNP RHOU ENST00000366691 human ensembl 74_37 +1 known missense c.413 p.N138T 0.997 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOU HGNC ENSG00000116574 200 0 0 181 10 5.2356 MORN1 0 genome.wustl.edu 37 1 2288909 2288909 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 2288909 2288909 G A SNP MORN1 ENST00000378531 human ensembl 74_37 -1 known missense c.998 p.A333V 0.000 NULL pfam_MORN,smart_MORN - no_errors MORN1 HGNC ENSG00000116151 69 0 0 60 5 7.69231 EPHA8 0 genome.wustl.edu 37 1 22924701 22924701 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 22924701 22924701 T C SNP EPHA8 ENST00000166244 human ensembl 74_37 +1 known missense c.2174 p.L725P 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA8 HGNC ENSG00000070886 87 0 0 79 6 7.05882 NUP133 0 genome.wustl.edu 37 1 229577634 229577634 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 229577634 229577634 G A SNP NUP133 ENST00000490352 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NUP133 HGNC ENSG00000069248 86 0 0 68 4 5.55556 C1QA 0 genome.wustl.edu 37 1 22964157 22964157 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 22964157 22964157 G A SNP C1QA ENST00000374642 human ensembl 74_37 +1 known silent c.48 p.S16 0.253 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QA HGNC ENSG00000173372 45 0 0 39 15 27.7778 ABCB10 0 genome.wustl.edu 37 1 229666069 229666069 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 229666069 229666069 G A SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.1522 p.P508S 0.177 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 186 0 0 122 46 27.381 ABCB10 0 genome.wustl.edu 37 1 229683280 229683280 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 229683280 229683280 G A SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.887 p.A296V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 59 0 0 51 7 12.069 PGBD5 0 genome.wustl.edu 37 1 230492723 230492723 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 230492723 230492723 T C SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known missense c.766 p.T256A 0.986 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 63 0 0 63 6 8.69565 C1orf198 0 genome.wustl.edu 37 1 230979489 230979489 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 230979489 230979489 C A SNP C1orf198 ENST00000366663 human ensembl 74_37 -1 known missense c.538 p.G180C 0.012 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 144 0 0 112 35 23.8095 EPHB2 0 genome.wustl.edu 37 1 23107938 23107938 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 23107938 23107938 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known missense c.86 p.A29V 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 29 0 0 27 7 20.5882 TRIM67 0 genome.wustl.edu 37 1 231337179 231337179 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 231337179 231337179 T A SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.1450 p.S484T 0.993 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 26 0 0 15 6 28.5714 EGLN1 0 genome.wustl.edu 37 1 231556926 231556926 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 231556926 231556926 C T SNP EGLN1 ENST00000366641 human ensembl 74_37 -1 known missense c.709 p.D237N 1.000 smart_Pro_4_hyd_alph pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND - no_errors EGLN1 HGNC ENSG00000135766 74 0 0 51 10 16.3934 DISC1 0 genome.wustl.edu 37 1 231906664 231906664 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 231906664 231906664 G A SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known silent c.1482 p.E494 0.701 superfamily_Prefoldin superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 51 0 0 38 7 15.5556 SIPA1L2 0 genome.wustl.edu 37 1 232539873 232539873 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 232539873 232539873 A G SNP SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known missense c.4814 p.L1605P 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 70 0 0 52 5 8.77193 MAP10 0 genome.wustl.edu 37 1 232942838 232942838 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 232942838 232942838 C A SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known missense c.2069 p.S690Y 0.000 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 38 0 0 27 4 12.9032 NTPCR 0 genome.wustl.edu 37 1 233091413 233091413 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 233091413 233091413 G T SNP NTPCR ENST00000366628 human ensembl 74_37 +1 known nonsense c.145 p.G49* 1.000 pfam_Nuc-triphosphatase_THEP1,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Nuc-triphosphatase_THEP1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NTPCR HGNC ENSG00000135778 89 0 0 53 4 7.01754 KDM1A 0 genome.wustl.edu 37 1 23405623 23405623 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 23405623 23405623 T C SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known missense c.2008 p.W670R 1.000 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 120 0 0 118 12 9.23077 ARID4B 0 genome.wustl.edu 37 1 235345219 235345219 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 235345219 235345219 A C SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.3015 p.N1005K 0.987 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 169 0 0 171 9 5 ARID4B 0 genome.wustl.edu 37 1 235377281 235377281 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 235377281 235377281 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known silent c.1644 p.E548 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 113 1 0.877193 98 9 8.41121 ARID4B 0 genome.wustl.edu 37 1 235377332 235377332 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 235377332 235377332 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known silent c.1593 p.T531 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 84 0 0 50 19 27.5362 LYST 0 genome.wustl.edu 37 1 235920623 235920623 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 235920623 235920623 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known silent c.7017 p.L2339 0.958 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 69 0 0 41 12 22.6415 LYST 0 genome.wustl.edu 37 1 235922861 235922861 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 235922861 235922861 C T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.6292 p.A2098T 0.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 62 0 0 68 14 17.0732 HEATR1 0 genome.wustl.edu 37 1 236751266 236751266 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 236751266 236751266 C T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known silent c.1608 p.S536 0.471 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 77 0 0 52 3 5.45455 MTR 0 genome.wustl.edu 37 1 237001790 237001790 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 237001790 237001790 T C SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.1406 p.V469A 1.000 pfam_Pterin-binding,superfamily_Dihydropteroate_synth-like,pirsf_MetH,pfscan_Pterin-binding,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 214 0 0 172 19 9.94764 MTR 0 genome.wustl.edu 37 1 237049633 237049633 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 237049633 237049633 T C SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.2817 p.G939 0.912 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 69 0 0 37 5 11.9048 MTR 0 genome.wustl.edu 37 1 237057735 237057735 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 237057735 237057735 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.3283 p.D1095N 1.000 pfam_VitB12-dep_Met_synth_activ_dom,superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 92 0 0 100 6 5.66038 RYR2 0 genome.wustl.edu 37 1 237608788 237608788 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 237608788 237608788 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1252 p.R418W 1.000 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 128 0 0 96 11 10.2804 RYR2 0 genome.wustl.edu 37 1 237617704 237617704 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 237617704 237617704 C A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1300 p.L434I 1.000 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 87 0 0 72 4 5.26316 RYR2 0 genome.wustl.edu 37 1 237660039 237660039 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 237660039 237660039 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.2184 p.L728 0.718 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY 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 195 0 0 168 11 6.14525 LOC100130331 0 genome.wustl.edu 37 1 238090431 238090431 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 238090431 238090431 A G SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 41 0 0 43 10 18.8679 E2F2 0 genome.wustl.edu 37 1 23842920 23842920 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 23842920 23842920 G A SNP E2F2 ENST00000361729 human ensembl 74_37 -1 known missense c.952 p.L318F 0.065 NULL pfam_E2F_TDP - no_errors E2F2 HGNC ENSG00000007968 31 0 0 32 4 11.1111 CHRM3 0 genome.wustl.edu 37 1 240072456 240072456 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 240072456 240072456 C T SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known missense c.1705 p.R569C 1.000 prints_Musac_Ach_M3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 71 0 0 58 5 7.93651 FMN2 0 genome.wustl.edu 37 1 240256747 240256747 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 240256747 240256747 G A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.1338 p.R446 0.289 NULL pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 80 0 0 66 6 8.33333 FMN2 0 genome.wustl.edu 37 1 240497204 240497204 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 240497204 240497204 T C SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.4602 p.L1534 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 71 0 0 31 8 20.5128 GREM2 0 genome.wustl.edu 37 1 240656448 240656448 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 240656448 240656448 C T SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known missense c.328 p.V110M 1.000 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 72 0 0 48 20 29.4118 TCEB3 0 genome.wustl.edu 37 1 24078489 24078489 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 24078489 24078489 C T SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known missense c.1472 p.P491L 0.001 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 90 0 0 50 15 23.0769 TCEB3 0 genome.wustl.edu 37 1 24080852 24080852 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 24080852 24080852 G T SNP TCEB3 ENST00000418390 human ensembl 74_37 +1 known splice_site c.1772-1 e7-1 1.000 - - - no_errors TCEB3 HGNC ENSG00000011007 132 0 0 138 11 7.38255 PITHD1 0 genome.wustl.edu 37 1 24113772 24113772 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 24113772 24113772 G A SNP PITHD1 ENST00000246151 human ensembl 74_37 +1 known missense c.542 p.R181Q 1.000 NULL pfam_PITH_dom,superfamily_Galactose-bd-like - no_errors PITHD1 HGNC ENSG00000057757 73 0 0 51 14 21.5385 FUCA1 0 genome.wustl.edu 37 1 24175226 24175226 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 24175226 24175226 A T SNP FUCA1 ENST00000374479 human ensembl 74_37 -1 known missense c.1073 p.V358D 0.614 pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub - no_errors FUCA1 HGNC ENSG00000179163 94 0 0 61 4 6.15385 CHML 0 genome.wustl.edu 37 1 241798852 241798852 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 241798852 241798852 T A SNP CHML ENST00000366553 human ensembl 74_37 -1 known missense c.217 p.T73S 0.000 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 294 0 0 227 17 6.96721 EXO1 0 genome.wustl.edu 37 1 242020693 242020693 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 242020693 242020693 C T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.452 p.A151V 1.000 pfam_XPG-I_dom,smart_XPG-I_dom,prints_XPG/Rad2 pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 170 0 0 114 8 6.55738 AKT3 0 genome.wustl.edu 37 1 243727145 243727145 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 243727145 243727145 C T SNP AKT3 ENST00000263826 human ensembl 74_37 -1 known silent c.825 p.E275 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_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT3 HGNC ENSG00000117020 90 0 0 55 10 15.3846 MYOM3 0 genome.wustl.edu 37 1 24419453 24419453 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 24419453 24419453 G T SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.1077 p.T359 1.000 pfam_Ig_I-set,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 MYOM3 HGNC ENSG00000142661 19 0 0 16 5 23.8095 ZBTB18 0 genome.wustl.edu 37 1 244217659 244217659 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 244217659 244217659 C T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known nonsense c.583 p.R195* 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 56 0 0 49 6 10.9091 ZBTB18 0 genome.wustl.edu 37 1 244217906 244217906 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 244217906 244217906 A T SNP ZBTB18 ENST00000358704 human ensembl 74_37 +1 known missense c.830 p.N277I 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB18 HGNC ENSG00000179456 78 0 0 65 7 9.72222 ADSS 0 genome.wustl.edu 37 1 244574657 244574657 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 244574657 244574657 G A SNP ADSS ENST00000366535 human ensembl 74_37 -1 known missense c.1250 p.A417V 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 139 1 0.714286 84 6 6.66667 ADSS 0 genome.wustl.edu 37 1 244595888 244595888 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 244595888 244595888 C T SNP ADSS ENST00000366535 human ensembl 74_37 -1 known missense c.365 p.G122D 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 216 0 0 126 7 5.26316 C1orf101 0 genome.wustl.edu 37 1 244756860 244756860 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 244756860 244756860 G A SNP C1orf101 ENST00000366531 human ensembl 74_37 +1 known silent c.1830 p.K610 0.127 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 85 0 0 56 5 8.19672 HNRNPU 0 genome.wustl.edu 37 1 245017773 245017773 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 245017773 245017773 A G SNP HNRNPU ENST00000283179 human ensembl 74_37 -1 known silent c.2457 p.H819 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 139 0 0 69 14 16.8675 HNRNPU 0 genome.wustl.edu 37 1 245019225 245019225 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 245019225 245019225 A G SNP HNRNPU ENST00000283179 human ensembl 74_37 -1 known silent c.2148 p.G716 0.990 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 167 0 0 133 8 5.67376 KIF26B 0 genome.wustl.edu 37 1 245765975 245765975 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 245765975 245765975 T C SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.1447 p.L483 0.026 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 93 0 0 79 8 9.1954 KIF26B 0 genome.wustl.edu 37 1 245770996 245770996 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 245770996 245770996 T C SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.1601 p.V534A 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,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 26 0 0 30 4 11.7647 KIF26B 0 genome.wustl.edu 37 1 245849553 245849553 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 245849553 245849553 A G SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.3268 p.K1090E 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 85 0 0 80 13 13.9785 KIF26B 0 genome.wustl.edu 37 1 245850411 245850411 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 245850411 245850411 G A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known missense c.4126 p.A1376T 0.751 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 26 0 0 30 7 18.9189 SMYD3 0 genome.wustl.edu 37 1 246027162 246027162 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 246027162 246027162 C T SNP SMYD3 ENST00000388985 human ensembl 74_37 -1 known silent c.840 p.E280 0.017 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 110 0 0 58 13 18.3099 SMYD3 0 genome.wustl.edu 37 1 246078843 246078843 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 246078843 246078843 T C SNP SMYD3 ENST00000388985 human ensembl 74_37 -1 known missense c.802 p.T268A 0.988 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD3 HGNC ENSG00000185420 97 0 0 81 7 7.95455 GRHL3 0 genome.wustl.edu 37 1 24673056 24673056 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 24673056 24673056 C T SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.1468 p.R490C 1.000 NULL pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 39 0 0 17 8 32 CNST 0 genome.wustl.edu 37 1 246795222 246795222 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 246795222 246795222 G T SNP CNST ENST00000366511 human ensembl 74_37 +1 known nonsense c.406 p.G136* 0.983 NULL NULL - no_errors CNST HGNC ENSG00000162852 167 1 0.595238 101 9 8.18182 AHCTF1 0 genome.wustl.edu 37 1 247014121 247014121 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 247014121 247014121 G A SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.5214 p.S1738 0.141 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 120 0 0 69 5 6.75676 AHCTF1 0 genome.wustl.edu 37 1 247071023 247071023 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 247071023 247071023 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known silent c.621 p.P207 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 96 0 0 85 7 7.6087 ZNF695 0 genome.wustl.edu 37 1 247151044 247151044 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 247151044 247151044 A G SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.773 p.V258A 0.004 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 ZNF695 HGNC ENSG00000197472 67 0 0 47 4 7.84314 ZNF695 0 genome.wustl.edu 37 1 247151183 247151183 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 247151183 247151183 A G SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.634 p.Y212H 0.014 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 ZNF695 HGNC ENSG00000197472 171 0 0 104 6 5.45455 ZNF669 0 genome.wustl.edu 37 1 247264102 247264102 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 247264102 247264102 C T SNP ZNF669 ENST00000343381 human ensembl 74_37 -1 known silent c.969 p.T323 0.011 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 ZNF669 HGNC ENSG00000188295 115 0 0 88 5 5.37634 OR6F1 0 genome.wustl.edu 37 1 247875672 247875672 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 247875672 247875672 G A SNP OR6F1 ENST00000302084 human ensembl 74_37 -1 known missense c.386 p.P129L 0.981 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 OR6F1 HGNC ENSG00000169214 66 0 0 75 9 10.7143 OR1C1 0 genome.wustl.edu 37 1 247920971 247920971 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 247920971 247920971 T C SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known silent c.738 p.S246 0.766 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC ENSG00000221888 52 0 0 39 6 13.3333 OR11L1 0 genome.wustl.edu 37 1 248004583 248004583 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248004583 248004583 C T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.616 p.V206M 0.142 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 85 0 0 65 10 13.3333 OR2L8 0 genome.wustl.edu 37 1 248112949 248112949 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248112949 248112949 C A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.790 p.L264M 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 122 1 0.813008 122 7 5.42636 OR2L3 0 genome.wustl.edu 37 1 248224182 248224182 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248224182 248224182 C A SNP OR2L3 ENST00000359959 human ensembl 74_37 +1 known missense c.199 p.L67I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L3 HGNC ENSG00000198128 415 0 0 325 35 9.72222 OR2T2 0 genome.wustl.edu 37 1 248616313 248616313 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248616313 248616313 C A SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.215 p.T72N 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 168 0 0 169 13 7.14286 OR2G6 0 genome.wustl.edu 37 1 248685734 248685734 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248685734 248685734 G A SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.787 p.A263T 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 111 0 0 82 18 18 OR14I1 0 genome.wustl.edu 37 1 248844710 248844710 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248844710 248844710 A G SNP OR14I1 ENST00000342623 human ensembl 74_37 -1 known missense c.896 p.M299T 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Olfact_rcpt - no_errors OR14I1 HGNC ENSG00000189181 74 0 0 60 7 10.4478 SEPN1 0 genome.wustl.edu 37 1 26135604 26135604 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 26135604 26135604 A G SNP SEPN1 ENST00000354177 human ensembl 74_37 +1 known missense c.733 p.T245A 1.000 NULL pfscan_EF_hand_dom - no_errors SEPN1 HGNC ENSG00000162430 74 0 0 78 5 6.0241 PAQR7 0 genome.wustl.edu 37 1 26189996 26189996 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 26189996 26189996 A C SNP PAQR7 ENST00000374296 human ensembl 74_37 -1 known missense c.335 p.L112R 0.057 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR7 HGNC ENSG00000182749 62 0 0 63 7 10 AIM1L 0 genome.wustl.edu 37 1 26663751 26663751 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 26663751 26663751 A T SNP AIM1L ENST00000527815 human ensembl 74_37 -1 known missense c.1142 p.I381N 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1L HGNC ENSG00000176092 88 0 0 72 6 7.69231 RPS6KA1 0 genome.wustl.edu 37 1 26878189 26878189 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 26878189 26878189 A T SNP RPS6KA1 ENST00000531382 human ensembl 74_37 +1 known missense c.470 p.D157V 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RPS6KA1 HGNC ENSG00000117676 58 0 0 52 14 21.2121 ZDHHC18 0 genome.wustl.edu 37 1 27176863 27176863 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 27176863 27176863 T C SNP ZDHHC18 ENST00000374142 human ensembl 74_37 +1 known missense c.718 p.F240L 1.000 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC18 HGNC ENSG00000204160 96 0 0 81 10 10.989 GPATCH3 0 genome.wustl.edu 37 1 27218931 27218931 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 27218931 27218931 G T SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known silent c.1332 p.G444 0.992 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 60 0 0 66 4 5.71429 SLC9A1 0 genome.wustl.edu 37 1 27436202 27436202 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 27436202 27436202 C T SNP SLC9A1 ENST00000263980 human ensembl 74_37 -1 known missense c.880 p.G294S 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 88 0 0 83 21 20.1923 MAP3K6 0 genome.wustl.edu 37 1 27688704 27688704 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 27688704 27688704 G T SNP MAP3K6 ENST00000357582 human ensembl 74_37 -1 known nonsense c.1293 p.C431* 0.749 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K6 HGNC ENSG00000142733 34 0 0 36 3 7.69231 DNAJC8 0 genome.wustl.edu 37 1 28530265 28530265 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 28530265 28530265 T G SNP DNAJC8 ENST00000263697 human ensembl 74_37 -1 known missense c.632 p.N211T 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC8 HGNC ENSG00000126698 80 0 0 80 5 5.88235 PHACTR4 0 genome.wustl.edu 37 1 28802790 28802790 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 28802790 28802790 T C SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known silent c.1623 p.D541 0.987 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 30 0 0 26 5 16.129 PHACTR4 0 genome.wustl.edu 37 1 28819589 28819589 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 28819589 28819589 C T SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known silent c.2109 p.S703 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 184 0 0 113 12 9.6 PHACTR4 0 genome.wustl.edu 37 1 28819605 28819605 + Splice_Site SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 28819605 28819605 T G SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known splice_site c.2123+2 e12+2 1.000 - - - no_errors PHACTR4 HGNC ENSG00000204138 180 0 0 114 12 9.52381 OPRD1 0 genome.wustl.edu 37 1 29189408 29189408 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29189408 29189408 C T SNP OPRD1 ENST00000234961 human ensembl 74_37 +1 known silent c.732 p.R244 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Delta_opi_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt - no_errors OPRD1 HGNC ENSG00000116329 42 0 0 36 7 16.2791 EPB41 0 genome.wustl.edu 37 1 29314014 29314014 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29314014 29314014 G A SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.65 p.G22D 0.083 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,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 EPB41 HGNC ENSG00000159023 154 0 0 138 8 5.47945 SRSF4 0 genome.wustl.edu 37 1 29475243 29475243 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29475243 29475243 C T SNP SRSF4 ENST00000373795 human ensembl 74_37 -1 known silent c.1164 p.A388 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF4 HGNC ENSG00000116350 84 0 0 108 14 11.4754 MECR 0 genome.wustl.edu 37 1 29522739 29522739 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29522739 29522739 T C SNP MECR ENST00000263702 human ensembl 74_37 -1 known missense c.862 p.M288V 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors MECR HGNC ENSG00000116353 33 0 0 45 5 10 MECR 0 genome.wustl.edu 37 1 29542532 29542532 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29542532 29542532 C A SNP MECR ENST00000263702 human ensembl 74_37 -1 known missense c.391 p.A131S 0.993 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors MECR HGNC ENSG00000116353 86 0 0 66 4 5.71429 PTPRU 0 genome.wustl.edu 37 1 29585826 29585826 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29585826 29585826 T C SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known silent c.531 p.D177 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 31 0 0 31 3 8.82353 PTPRU 0 genome.wustl.edu 37 1 29611288 29611288 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29611288 29611288 C A SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known nonsense c.2225 p.S742* 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 66 0 0 71 15 17.4419 PTPRU 0 genome.wustl.edu 37 1 29618439 29618439 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 29618439 29618439 A T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.2407 p.M803L 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 32 0 0 33 4 10.8108 PUM1 0 genome.wustl.edu 37 1 31479866 31479866 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 31479866 31479866 C T SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known nonsense c.516 p.W172* 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 411 0 0 272 15 5.22648 SERINC2 0 genome.wustl.edu 37 1 31907103 31907103 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 31907103 31907103 G A SNP SERINC2 ENST00000491976 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SERINC2 HGNC ENSG00000168528 27 0 0 32 5 13.5135 BAI2 0 genome.wustl.edu 37 1 32222059 32222059 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 32222059 32222059 G A SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.379 p.R127W 0.989 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 18 0 0 25 4 13.7931 KHDRBS1 0 genome.wustl.edu 37 1 32503449 32503449 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 32503449 32503449 G T SNP KHDRBS1 ENST00000327300 human ensembl 74_37 +1 known nonsense c.919 p.G307* 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS1 HGNC ENSG00000121774 169 0 0 155 20 11.4286 KPNA6 0 genome.wustl.edu 37 1 32635510 32635510 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 32635510 32635510 A G SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known silent c.1287 p.K429 0.999 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 171 0 0 151 17 10.119 EIF3I 0 genome.wustl.edu 37 1 32696575 32696575 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 32696575 32696575 A G SNP EIF3I ENST00000373586 human ensembl 74_37 +1 known missense c.851 p.H284R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EIF3I HGNC ENSG00000084623 114 0 0 110 11 9.09091 TSSK3 0 genome.wustl.edu 37 1 32829415 32829415 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 32829415 32829415 T C SNP TSSK3 ENST00000373534 human ensembl 74_37 +1 known missense c.365 p.I122T 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 TSSK3 HGNC ENSG00000162526 87 0 0 65 23 26.1364 RBBP4 0 genome.wustl.edu 37 1 33134616 33134616 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 33134616 33134616 A G SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.644 p.K215R 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 90 0 0 71 11 13.4146 ZNF362 0 genome.wustl.edu 37 1 33745781 33745781 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 33745781 33745781 G A SNP ZNF362 ENST00000373428 human ensembl 74_37 +1 known missense c.406 p.A136T 0.050 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF362 HGNC ENSG00000160094 70 0 0 56 20 26.3158 ARHGEF16 0 genome.wustl.edu 37 1 3394499 3394499 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 3394499 3394499 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.1534 p.E512K 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 77 0 0 59 6 9.23077 ARHGEF16 0 genome.wustl.edu 37 1 3395096 3395096 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 3395096 3395096 C T SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known silent c.1734 p.S578 0.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 43 0 0 45 6 11.7647 ARHGEF16 0 genome.wustl.edu 37 1 3397074 3397074 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 3397074 3397074 C T SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.2053 p.R685C 0.373 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 43 0 0 51 3 5.55556 CSMD2 0 genome.wustl.edu 37 1 34015866 34015866 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 34015866 34015866 C T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.8828 p.S2943N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 72 0 0 61 10 14.0845 CSMD2 0 genome.wustl.edu 37 1 34035106 34035106 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 34035106 34035106 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.7999 p.R2667C 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 48 0 0 35 9 20.4545 CSMD2 0 genome.wustl.edu 37 1 34071528 34071528 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 34071528 34071528 T C SNP CSMD2 ENST00000241312 human ensembl 74_37 -1 known missense c.6284 p.E2095G 0.108 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 67 0 0 54 4 6.89655 MEGF6 0 genome.wustl.edu 37 1 3417801 3417801 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 3417801 3417801 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.2386 p.D796N 0.664 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 18 0 0 26 4 13.3333 CSMD2 0 genome.wustl.edu 37 1 34180353 34180353 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 34180353 34180353 C A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known missense c.3240 p.E1080D 0.997 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 47 0 0 47 4 7.84314 C1orf94 0 genome.wustl.edu 37 1 34667751 34667751 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 34667751 34667751 A G SNP C1orf94 ENST00000488417 human ensembl 74_37 +1 known missense c.1337 p.H446R 1.000 NULL NULL - no_errors C1orf94 HGNC ENSG00000142698 71 0 0 82 9 9.89011 GJB3 0 genome.wustl.edu 37 1 35250919 35250919 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 35250919 35250919 A G SNP GJB3 ENST00000373362 human ensembl 74_37 +1 known missense c.556 p.I186V 0.810 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin31 - no_errors GJB3 HGNC ENSG00000188910 71 0 0 73 10 12.0482 DLGAP3 0 genome.wustl.edu 37 1 35332721 35332721 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 35332721 35332721 G A SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.2649 p.I883 0.909 pfam_GKAP pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 106 0 0 94 28 22.9508 DLGAP3 0 genome.wustl.edu 37 1 35370394 35370394 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 35370394 35370394 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.591 p.G197 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 44 0 0 39 12 23.5294 WRAP73 0 genome.wustl.edu 37 1 3552529 3552529 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 3552529 3552529 T C SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known silent c.582 p.A194 0.010 smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 73 0 0 63 4 5.97015 CLSPN 0 genome.wustl.edu 37 1 36203686 36203686 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36203686 36203686 T C SNP CLSPN ENST00000318121 human ensembl 74_37 -1 known missense c.3571 p.K1191E 1.000 NULL NULL - no_errors CLSPN HGNC ENSG00000092853 87 0 0 74 9 10.8434 ADPRHL2 0 genome.wustl.edu 37 1 36557670 36557670 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36557670 36557670 G A SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.676 p.A226T 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 42 0 0 52 3 5.45455 TRAPPC3 0 genome.wustl.edu 37 1 36605713 36605713 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36605713 36605713 C T SNP TRAPPC3 ENST00000373166 human ensembl 74_37 -1 known missense c.97 p.D33N 1.000 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 pfam_TRAPP_component,superfamily_NO_sig/Golgi_transp_ligand-bd,pirsf_TRAPP_I_complex_Bet3 - no_errors TRAPPC3 HGNC ENSG00000054116 46 0 0 40 3 6.97674 MAP7D1 0 genome.wustl.edu 37 1 36645561 36645561 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36645561 36645561 G A SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known missense c.2408 p.G803E 1.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 44 0 0 37 4 9.7561 CCDC27 0 genome.wustl.edu 37 1 3669074 3669074 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 3669074 3669074 C A SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known missense c.29 p.P10H 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 52 0 0 50 4 7.40741 THRAP3 0 genome.wustl.edu 37 1 36755361 36755361 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36755361 36755361 G A SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.1741 p.A581T 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 51 0 0 33 13 28.2609 THRAP3 0 genome.wustl.edu 37 1 36769439 36769439 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36769439 36769439 C T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.2689 p.R897W 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 141 0 0 104 12 10.3448 SH3D21 0 genome.wustl.edu 37 1 36785374 36785374 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36785374 36785374 C T SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known silent c.1110 p.N370 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 18 0 0 22 4 15.3846 MEAF6 0 genome.wustl.edu 37 1 37975066 37975066 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 37975066 37975066 G A SNP MEAF6 ENST00000373075 human ensembl 74_37 -1 known missense c.284 p.T95I 0.985 pfam_Hist_AcTrfase_NuA4_cplx pfam_Hist_AcTrfase_NuA4_cplx - no_errors MEAF6 HGNC ENSG00000163875 283 0 0 219 23 9.50413 SNIP1 0 genome.wustl.edu 37 1 38006093 38006093 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 38006093 38006093 A G SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known silent c.591 p.G197 0.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 137 0 0 117 10 7.87402 DNALI1 0 genome.wustl.edu 37 1 38023220 38023220 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 38023220 38023220 T C SNP DNALI1 ENST00000296218 human ensembl 74_37 +1 known missense c.164 p.V55A 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 116 0 0 112 11 8.94309 GNL2 0 genome.wustl.edu 37 1 38048476 38048476 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 38048476 38048476 C T SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.698 p.R233H 1.000 superfamily_P-loop_NTPase pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 97 0 0 76 7 8.43373 GNL2 0 genome.wustl.edu 37 1 38053053 38053053 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 38053053 38053053 G A SNP GNL2 ENST00000373062 human ensembl 74_37 -1 known missense c.428 p.T143I 1.000 pfam_NOG2_N_dom pfam_NOG2_N_dom,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 80 0 0 43 11 20.3704 C1orf174 0 genome.wustl.edu 37 1 3806483 3806483 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 3806483 3806483 T C SNP C1orf174 ENST00000486765 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf174 HGNC ENSG00000198912 110 0 0 79 5 5.95238 MANEAL 0 genome.wustl.edu 37 1 38265387 38265387 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 38265387 38265387 C T SNP MANEAL ENST00000373045 human ensembl 74_37 +1 known missense c.886 p.P296S 0.945 NULL NULL - no_errors MANEAL HGNC ENSG00000185090 107 0 0 98 17 14.7826 FHL3 0 genome.wustl.edu 37 1 38463130 38463130 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 38463130 38463130 C T SNP FHL3 ENST00000373016 human ensembl 74_37 -1 known missense c.790 p.V264I 0.986 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL3 HGNC ENSG00000183386 55 0 0 55 14 20.2899 GJA9 0 genome.wustl.edu 37 1 39341489 39341489 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 39341489 39341489 G A SNP GJA9 ENST00000357771 human ensembl 74_37 -1 known silent c.282 p.G94 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 218 0 0 197 18 8.37209 MACF1 0 genome.wustl.edu 37 1 39765892 39765892 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 39765892 39765892 A T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.2507 p.E836V 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 131 0 0 118 12 9.23077 MACF1 0 genome.wustl.edu 37 1 39796951 39796951 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 39796951 39796951 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.4802 p.G1601D 1.000 superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_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 MACF1 HGNC ENSG00000127603 51 0 0 42 4 8.69565 MACF1 0 genome.wustl.edu 37 1 39844182 39844182 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 39844182 39844182 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.7077 p.Y2359 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 91 0 0 64 12 15.7895 MACF1 0 genome.wustl.edu 37 1 39854290 39854290 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 39854290 39854290 C T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.9590 p.T3197I 0.988 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 81 0 0 69 6 8 KIAA0754 0 genome.wustl.edu 37 1 39879803 39879803 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 39879803 39879803 A G SNP KIAA0754 ENST00000530275 human ensembl 74_37 +1 known missense c.3458 p.N1153S 0.000 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 14 0 0 15 5 25 MYCL 0 genome.wustl.edu 37 1 40363565 40363565 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40363565 40363565 G A SNP MYCL ENST00000372816 human ensembl 74_37 -1 known nonsense c.574 p.R192* 1.000 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYCL HGNC ENSG00000116990 108 0 0 92 11 10.6796 CAP1 0 genome.wustl.edu 37 1 40535427 40535427 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40535427 40535427 C A SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known missense c.874 p.P292T 0.999 pfam_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 195 0 0 156 19 10.8571 RLF 0 genome.wustl.edu 37 1 40703531 40703531 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40703531 40703531 A C SNP RLF ENST00000372771 human ensembl 74_37 +1 known silent c.3157 p.R1053 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 107 0 0 68 7 9.33333 ZMPSTE24 0 genome.wustl.edu 37 1 40747087 40747087 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40747087 40747087 A T SNP ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known missense c.842 p.D281V 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 133 0 0 94 14 12.963 SMAP2 0 genome.wustl.edu 37 1 40879909 40879909 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40879909 40879909 C A SNP SMAP2 ENST00000372718 human ensembl 74_37 +1 known missense c.568 p.L190I 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 73 0 0 51 5 8.92857 SMAP2 0 genome.wustl.edu 37 1 40881883 40881883 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40881883 40881883 C T SNP SMAP2 ENST00000372718 human ensembl 74_37 +1 known silent c.717 p.G239 0.972 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 150 0 0 161 23 12.5 EXO5 0 genome.wustl.edu 37 1 40981037 40981037 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40981037 40981037 T C SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.821 p.L274P 0.975 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 183 0 0 148 16 9.7561 KCNQ4 0 genome.wustl.edu 37 1 41250028 41250028 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 41250028 41250028 A G SNP KCNQ4 ENST00000347132 human ensembl 74_37 +1 known missense c.263 p.Y88C 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 44 0 0 37 8 17.7778 HIVEP3 0 genome.wustl.edu 37 1 41990484 41990484 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 41990484 41990484 G A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.5305 p.L1769 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 112 0 0 89 19 17.5926 HIVEP3 0 genome.wustl.edu 37 1 42046233 42046233 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 42046233 42046233 T C SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known silent c.4236 p.S1412 0.912 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 118 0 0 101 10 9.00901 HIVEP3 0 genome.wustl.edu 37 1 42046988 42046988 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 42046988 42046988 C A SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known nonsense c.3481 p.E1161* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 145 0 0 142 15 9.55414 HIVEP3 0 genome.wustl.edu 37 1 42048796 42048796 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 42048796 42048796 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.1673 p.R558Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 70 0 0 49 19 27.9412 FOXJ3 0 genome.wustl.edu 37 1 42664883 42664883 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 42664883 42664883 C T SNP FOXJ3 ENST00000361346 human ensembl 74_37 -1 known missense c.649 p.D217N 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ3 HGNC ENSG00000198815 170 0 0 143 8 5.29801 PPIH 0 genome.wustl.edu 37 1 43125024 43125024 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43125024 43125024 T C SNP PPIH ENST00000372550 human ensembl 74_37 +1 known silent c.9 p.A3 0.025 pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIH HGNC ENSG00000171960 107 0 0 97 12 11.0092 LEPRE1 0 genome.wustl.edu 37 1 43212614 43212614 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43212614 43212614 T C SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.2384 p.N795S 0.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 57 0 0 57 6 9.52381 LEPRE1 0 genome.wustl.edu 37 1 43213016 43213016 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43213016 43213016 A G SNP LEPRE1 ENST00000236040 human ensembl 74_37 -1 known missense c.1982 p.V661A 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPRE1 HGNC ENSG00000117385 63 0 0 65 6 8.4507 SLC2A1 0 genome.wustl.edu 37 1 43396858 43396858 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43396858 43396858 T C SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known missense c.134 p.N45S 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 45 0 0 39 6 13.3333 TMEM125 0 genome.wustl.edu 37 1 43738912 43738912 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43738912 43738912 C T SNP TMEM125 ENST00000432792 human ensembl 74_37 +1 known silent c.519 p.S173 0.004 NULL NULL - no_errors TMEM125 HGNC ENSG00000179178 43 0 0 29 6 17.1429 TIE1 0 genome.wustl.edu 37 1 43777979 43777979 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43777979 43777979 C A SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known missense c.1634 p.P545H 0.992 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 84 0 0 63 6 8.69565 SZT2 0 genome.wustl.edu 37 1 43903371 43903371 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43903371 43903371 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.6225 p.S2075 0.997 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 55 0 0 49 10 16.9492 SZT2 0 genome.wustl.edu 37 1 43908489 43908489 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43908489 43908489 G T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known splice_site c.7981-1 e58-1 1.000 - - - no_errors SZT2 HGNC ENSG00000198198 115 0 0 109 15 12.0968 PTPRF 0 genome.wustl.edu 37 1 44056913 44056913 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 44056913 44056913 G A SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.1220 p.R407H 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 13 0 0 13 5 27.7778 PTPRF 0 genome.wustl.edu 37 1 44063488 44063488 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 44063488 44063488 T C SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.1883 p.V628A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 19 0 0 16 3 15.7895 ATP6V0B 0 genome.wustl.edu 37 1 44442498 44442498 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 44442498 44442498 T C SNP ATP6V0B ENST00000472174 human ensembl 74_37 +1 known splice_site c.400+2 e6+2 1.000 - - - no_errors ATP6V0B HGNC ENSG00000117410 47 0 0 45 3 6.25 ATP6V0B 0 genome.wustl.edu 37 1 44442793 44442793 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 44442793 44442793 G A SNP ATP6V0B ENST00000472174 human ensembl 74_37 +1 known missense c.496 p.D166N 1.000 pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu - no_errors ATP6V0B HGNC ENSG00000117410 102 0 0 85 22 20.5607 CCDC24 0 genome.wustl.edu 37 1 44458260 44458260 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 44458260 44458260 G T SNP CCDC24 ENST00000372318 human ensembl 74_37 +1 known missense c.368 p.R123M 0.137 NULL NULL - no_errors CCDC24 HGNC ENSG00000159214 41 0 0 45 5 10 SLC6A9 0 genome.wustl.edu 37 1 44474143 44474143 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 44474143 44474143 C T SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.691 p.G231S 0.426 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 85 0 0 81 8 8.98876 HECTD3 0 genome.wustl.edu 37 1 45474846 45474846 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 45474846 45474846 T A SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.1042 p.I348F 0.141 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 41 0 0 29 6 17.1429 UROD 0 genome.wustl.edu 37 1 45479751 45479751 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 45479751 45479751 T C SNP UROD ENST00000460906 human ensembl 74_37 +1 known rna NULL NULL 0.934 - - - no_errors UROD HGNC ENSG00000126088 98 0 0 88 16 15.3846 MUTYH 0 genome.wustl.edu 37 1 45799172 45799172 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 45799172 45799172 G A SNP MUTYH ENST00000450313 human ensembl 74_37 -1 known silent c.261 p.F87 1.000 superfamily_DNA_glycosylase pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif - no_errors MUTYH HGNC ENSG00000132781 74 0 0 85 7 7.6087 TOE1 0 genome.wustl.edu 37 1 45808899 45808899 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 45808899 45808899 C A SNP TOE1 ENST00000372090 human ensembl 74_37 +1 known missense c.1058 p.P353Q 0.000 pfam_RNase_CAF1 pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 158 0 0 115 12 9.44882 MAST2 0 genome.wustl.edu 37 1 46496749 46496749 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 46496749 46496749 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known nonsense c.2779 p.R927* 1.000 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 23 0 0 26 4 13.3333 MAST2 0 genome.wustl.edu 37 1 46497992 46497992 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 46497992 46497992 T G SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known silent c.3330 p.A1110 1.000 superfamily_PDZ,pfscan_PDZ pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 63 0 0 63 9 12.5 POMGNT1 0 genome.wustl.edu 37 1 46658844 46658844 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 46658844 46658844 A G SNP POMGNT1 ENST00000371986 human ensembl 74_37 -1 known splice_site c.1152+2 e12+2 1.000 - - - no_errors POMGNT1 HGNC ENSG00000085998 52 0 0 31 8 20.5128 RAD54L 0 genome.wustl.edu 37 1 46726527 46726527 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 46726527 46726527 C T SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known silent c.606 p.R202 0.997 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 76 0 0 65 5 7.14286 RAD54L 0 genome.wustl.edu 37 1 46739122 46739122 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 46739122 46739122 G A SNP RAD54L ENST00000371975 human ensembl 74_37 +1 known missense c.1471 p.E491K 1.000 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_Rad54_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L HGNC ENSG00000085999 109 0 0 109 32 22.695 LRRC41 0 genome.wustl.edu 37 1 46744536 46744536 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 46744536 46744536 A G SNP LRRC41 ENST00000472710 human ensembl 74_37 -1 known rna NULL NULL 0.996 - - - no_errors LRRC41 HGNC ENSG00000132128 59 0 0 48 4 7.69231 FAAH 0 genome.wustl.edu 37 1 46876500 46876500 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 46876500 46876500 A G SNP FAAH ENST00000243167 human ensembl 74_37 +1 known silent c.1290 p.S430 0.064 pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun pfam_Amidase,superfamily_Amidase_dom,pirsf_Amidase_fun - no_errors FAAH HGNC ENSG00000117480 68 0 0 62 7 10.1449 ATPAF1 0 genome.wustl.edu 37 1 47101525 47101525 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47101525 47101525 T A SNP ATPAF1 ENST00000576409 human ensembl 74_37 -1 known missense c.979 p.M327L 1.000 pfam_ATP11 pfam_ATP11 - no_errors ATPAF1 HGNC ENSG00000123472 315 0 0 237 20 7.7821 ATPAF1 0 genome.wustl.edu 37 1 47123837 47123837 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47123837 47123837 C T SNP ATPAF1 ENST00000576409 human ensembl 74_37 -1 known missense c.520 p.E174K 1.000 pfam_ATP11 pfam_ATP11 - no_errors ATPAF1 HGNC ENSG00000123472 76 0 0 46 9 16.3636 EFCAB14 0 genome.wustl.edu 37 1 47183713 47183713 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47183713 47183713 T C SNP EFCAB14 ENST00000371933 human ensembl 74_37 -1 known missense c.47 p.D16G 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 105 0 0 97 7 6.73077 CYP4A11 0 genome.wustl.edu 37 1 47400795 47400795 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47400795 47400795 C T SNP CYP4A11 ENST00000371904 human ensembl 74_37 -1 known missense c.667 p.D223N 0.245 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV - no_errors CYP4A11 HGNC ENSG00000187048 85 0 0 94 7 6.93069 CYP4X1 0 genome.wustl.edu 37 1 47515714 47515714 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47515714 47515714 A G SNP CYP4X1 ENST00000371901 human ensembl 74_37 +1 known silent c.1398 p.V466 0.992 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 CYP4X1 HGNC ENSG00000186377 181 0 0 166 15 8.28729 CYP4Z1 0 genome.wustl.edu 37 1 47564911 47564911 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47564911 47564911 G A SNP CYP4Z1 ENST00000334194 human ensembl 74_37 +1 known missense c.1022 p.R341Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I 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 CYP4Z1 HGNC ENSG00000186160 57 0 0 43 5 10.4167 STIL 0 genome.wustl.edu 37 1 47716886 47716886 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47716886 47716886 T C SNP STIL ENST00000371877 human ensembl 74_37 -1 known silent c.3789 p.L1263 0.285 NULL NULL - no_errors STIL HGNC ENSG00000123473 162 0 0 123 15 10.8696 STIL 0 genome.wustl.edu 37 1 47717182 47717182 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47717182 47717182 G T SNP STIL ENST00000371877 human ensembl 74_37 -1 known missense c.3493 p.L1165I 0.000 NULL NULL - no_errors STIL HGNC ENSG00000123473 182 0 0 121 7 5.46875 CMPK1 0 genome.wustl.edu 37 1 47840875 47840875 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 47840875 47840875 G A SNP CMPK1 ENST00000371871 human ensembl 74_37 +1 known missense c.478 p.D160N 1.000 NULL pfam_Adenylate_kin,superfamily_P-loop_NTPase,prints_Adenylate_kin - no_errors CMPK1 HGNC ENSG00000162368 232 0 0 131 14 9.65517 SLC5A9 0 genome.wustl.edu 37 1 48690420 48690420 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 48690420 48690420 A T SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.187 p.T63S 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 99 0 0 99 8 7.47664 SLC5A9 0 genome.wustl.edu 37 1 48703476 48703476 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 48703476 48703476 C A SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.1493 p.A498D 0.999 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 51 0 0 42 8 16 FAF1 0 genome.wustl.edu 37 1 50956304 50956304 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 50956304 50956304 A G SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.1609 p.F537L 1.000 NULL pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 219 0 0 131 7 5.07246 NRD1 0 genome.wustl.edu 37 1 52343945 52343945 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 52343945 52343945 A G SNP NRD1 ENST00000354831 human ensembl 74_37 -1 known splice_site c.341+2 e1+2 1.000 - - - no_errors NRD1 HGNC ENSG00000078618 46 0 0 46 6 11.5385 ORC1 0 genome.wustl.edu 37 1 52838930 52838930 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 52838930 52838930 T C SNP ORC1 ENST00000371566 human ensembl 74_37 -1 known missense c.2509 p.S837G 1.000 pfam_Cdc6_C_dom pfam_BAH_dom,pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,pfam_DUF2075,superfamily_P-loop_NTPase,smart_BAH_dom,smart_AAA+_ATPase,pfscan_BAH_dom - no_errors ORC1 HGNC ENSG00000085840 92 0 0 93 9 8.82353 PRPF38A 0 genome.wustl.edu 37 1 52881054 52881054 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 52881054 52881054 G A SNP PRPF38A ENST00000257181 human ensembl 74_37 +1 known missense c.892 p.E298K 1.000 NULL pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 44 0 0 26 6 18.75 GPX7 0 genome.wustl.edu 37 1 53072522 53072522 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53072522 53072522 G A SNP GPX7 ENST00000361314 human ensembl 74_37 +1 known missense c.305 p.S102N 0.999 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 pfam_Glutathione_peroxidase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Glutathione_peroxidase,prints_Glutathione_peroxidase,tigrfam_Glut_perox_Gpx7 - no_errors GPX7 HGNC ENSG00000116157 104 0 0 107 13 10.8333 SELRC1 0 genome.wustl.edu 37 1 53153309 53153309 + RNA SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53153309 53153309 A T SNP SELRC1 ENST00000486918 human ensembl 74_37 -1 known rna NULL NULL 0.014 - - - no_errors SELRC1 HGNC ENSG00000162377 12 0 0 17 2 10.5263 ZYG11B 0 genome.wustl.edu 37 1 53236726 53236726 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53236726 53236726 G A SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known silent c.231 p.R77 1.000 NULL superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 196 0 0 152 13 7.87879 ZYG11B 0 genome.wustl.edu 37 1 53245640 53245640 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53245640 53245640 A G SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known missense c.1067 p.E356G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 152 0 0 102 8 7.27273 ZYG11B 0 genome.wustl.edu 37 1 53279576 53279576 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53279576 53279576 A G SNP ZYG11B ENST00000294353 human ensembl 74_37 +1 known silent c.1938 p.V646 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 61 0 0 47 7 12.963 SCP2 0 genome.wustl.edu 37 1 53427303 53427303 + Splice_Site SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53427303 53427303 T A SNP SCP2 ENST00000371514 human ensembl 74_37 +1 known splice_site c.523+2 e6+2 1.000 - - - no_errors SCP2 HGNC ENSG00000116171 79 0 0 59 5 7.8125 CPT2 0 genome.wustl.edu 37 1 53675839 53675839 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53675839 53675839 A T SNP CPT2 ENST00000371486 human ensembl 74_37 +1 known missense c.493 p.T165S 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 83 0 0 79 12 13.1868 CPT2 0 genome.wustl.edu 37 1 53675956 53675956 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53675956 53675956 G A SNP CPT2 ENST00000371486 human ensembl 74_37 +1 known missense c.610 p.A204T 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT2 HGNC ENSG00000157184 102 0 0 99 7 6.60377 LRP8 0 genome.wustl.edu 37 1 53715086 53715086 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 53715086 53715086 T C SNP LRP8 ENST00000306052 human ensembl 74_37 -1 known missense c.2819 p.N940S 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP8 HGNC ENSG00000157193 65 0 0 57 6 9.52381 YIPF1 0 genome.wustl.edu 37 1 54331937 54331937 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 54331937 54331937 C T SNP YIPF1 ENST00000539954 human ensembl 74_37 -1 known missense c.842 p.R281H 0.963 pfam_Yip1 pfam_Yip1,superfamily_Ribonuclease/ribotoxin - no_errors YIPF1 HGNC ENSG00000058799 75 0 0 56 13 18.8406 HSPB11 0 genome.wustl.edu 37 1 54387395 54387395 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 54387395 54387395 C T SNP HSPB11 ENST00000194214 human ensembl 74_37 -1 known missense c.364 p.A122T 0.997 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like - no_errors HSPB11 HGNC ENSG00000081870 109 0 0 64 10 13.5135 HSPB11 0 genome.wustl.edu 37 1 54395786 54395786 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 54395786 54395786 A G SNP HSPB11 ENST00000371378 human ensembl 74_37 -1 known missense c.131 p.M44T 1.000 superfamily_Galactose-bd-like superfamily_Galactose-bd-like - no_errors HSPB11 HGNC ENSG00000081870 113 0 0 89 7 7.29167 CYB5RL 0 genome.wustl.edu 37 1 54644859 54644859 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 54644859 54644859 C T SNP CYB5RL ENST00000419823 human ensembl 74_37 -1 known missense c.707 p.R236H 0.384 pfam_OxRdtase_FAD/NAD-bd pfam_OxRdtase_FAD-bd_dom,pfam_Oxidoreductase-like_N,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Phe_hydroxylase - no_errors CYB5RL HGNC ENSG00000215883 33 0 0 19 5 20.8333 SSBP3 0 genome.wustl.edu 37 1 54692744 54692744 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 54692744 54692744 A G SNP SSBP3 ENST00000326956 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SSBP3 HGNC ENSG00000157216 140 0 0 123 9 6.81818 SSBP3 0 genome.wustl.edu 37 1 54867612 54867612 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 54867612 54867612 A G SNP SSBP3 ENST00000371320 human ensembl 74_37 -1 known silent c.198 p.F66 1.000 prints_SSDP_DNA-bd smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP3 HGNC ENSG00000157216 100 0 0 58 5 7.93651 ACOT11 0 genome.wustl.edu 37 1 55074766 55074766 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 55074766 55074766 C A SNP ACOT11 ENST00000343744 human ensembl 74_37 +1 known missense c.1766 p.P589H 1.000 NULL pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 188 0 0 157 13 7.64706 USP24 0 genome.wustl.edu 37 1 55627910 55627910 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 55627910 55627910 C G SNP USP24 ENST00000407756 human ensembl 74_37 -1 known missense c.619 p.G207R 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 29 0 0 25 3 10.7143 PRKAA2 0 genome.wustl.edu 37 1 57159508 57159508 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 57159508 57159508 T C SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known silent c.546 p.P182 0.172 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,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 229 0 0 148 16 9.7561 C8B 0 genome.wustl.edu 37 1 57420406 57420406 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 57420406 57420406 A T SNP C8B ENST00000371237 human ensembl 74_37 -1 known nonsense c.486 p.C162* 0.552 NULL pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8B HGNC ENSG00000021852 119 1 0.833333 98 8 7.54717 DAB1 0 genome.wustl.edu 37 1 57535065 57535065 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 57535065 57535065 G A SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.631 p.R211C 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 120 0 0 89 21 19.0909 JUN 0 genome.wustl.edu 37 1 59248625 59248625 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 59248625 59248625 G T SNP JUN ENST00000371222 human ensembl 74_37 -1 known missense c.118 p.L40M 1.000 pfam_JNK pfam_JNK,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Jun - no_errors JUN HGNC ENSG00000177606 154 0 0 178 12 6.31579 NPHP4 0 genome.wustl.edu 37 1 6008211 6008211 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 6008211 6008211 A G SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.911 p.V304A 0.210 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 36 0 0 35 3 7.89474 HOOK1 0 genome.wustl.edu 37 1 60299106 60299106 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 60299106 60299106 T C SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known silent c.303 p.L101 0.969 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 71 0 0 63 7 10 HOOK1 0 genome.wustl.edu 37 1 60330855 60330855 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 60330855 60330855 A G SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.1682 p.H561R 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 98 0 0 44 14 24.1379 CHD5 0 genome.wustl.edu 37 1 6172337 6172337 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 6172337 6172337 T A SNP CHD5 ENST00000262450 human ensembl 74_37 -1 known missense c.5003 p.D1668V 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 142 0 0 134 45 25.1397 INADL 0 genome.wustl.edu 37 1 62574144 62574144 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 62574144 62574144 G A SNP INADL ENST00000371158 human ensembl 74_37 +1 known silent c.4413 p.G1471 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 65 0 0 48 4 7.69231 INADL 0 genome.wustl.edu 37 1 62614010 62614010 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 62614010 62614010 A G SNP INADL ENST00000371158 human ensembl 74_37 +1 known missense c.5326 p.T1776A 0.001 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 242 0 0 210 17 7.48899 L1TD1 0 genome.wustl.edu 37 1 62675548 62675548 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 62675548 62675548 C T SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known missense c.1102 p.P368S 0.004 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 203 0 0 137 10 6.80272 L1TD1 0 genome.wustl.edu 37 1 62675858 62675858 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 62675858 62675858 A T SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known missense c.1412 p.D471V 0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 80 0 0 67 10 12.987 KANK4 0 genome.wustl.edu 37 1 62738936 62738936 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 62738936 62738936 A G SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known missense c.1840 p.Y614H 1.000 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 49 0 0 38 4 9.52381 DOCK7 0 genome.wustl.edu 37 1 63090947 63090947 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 63090947 63090947 T A SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.1408 p.T470S 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 196 0 0 152 14 8.43373 GPR153 0 genome.wustl.edu 37 1 6311498 6311498 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 6311498 6311498 C A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known silent c.879 p.L293 1.000 pfam_GPCR_Rhodpsn,prints_GCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 62 0 0 60 5 7.69231 GPR153 0 genome.wustl.edu 37 1 6314057 6314057 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 6314057 6314057 G A SNP GPR153 ENST00000377893 human ensembl 74_37 -1 known silent c.507 p.G169 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GCR_153/162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR153,prints_GCR_153/162 - no_errors GPR153 HGNC ENSG00000158292 39 0 0 29 4 12.1212 CACHD1 0 genome.wustl.edu 37 1 65120394 65120394 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 65120394 65120394 G A SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known missense c.1690 p.A564T 0.972 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 171 0 0 148 9 5.73248 TNFRSF25 0 genome.wustl.edu 37 1 6521665 6521665 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 6521665 6521665 G T SNP TNFRSF25 ENST00000377782 human ensembl 74_37 -1 known silent c.1110 p.I370 0.997 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_25,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF25 HGNC ENSG00000215788 26 0 0 24 4 14.2857 JAK1 0 genome.wustl.edu 37 1 65332662 65332662 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 65332662 65332662 T A SNP JAK1 ENST00000342505 human ensembl 74_37 -1 known missense c.877 p.I293F 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 174 0 0 112 10 8.19672 DNAJC6 0 genome.wustl.edu 37 1 65851520 65851520 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 65851520 65851520 G A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.926 p.R309H 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 98 0 0 82 6 6.81818 DNAJC6 0 genome.wustl.edu 37 1 65871610 65871610 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 65871610 65871610 C T SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.2285 p.P762L 0.997 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 71 0 0 78 5 6.0241 DNAJC6 0 genome.wustl.edu 37 1 65878634 65878634 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 65878634 65878634 G A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.2839 p.A947T 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 295 0 0 182 14 7.14286 LEPR 0 genome.wustl.edu 37 1 66102560 66102560 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 66102560 66102560 C A SNP LEPR ENST00000349533 human ensembl 74_37 +1 known nonsense c.3360 p.C1120* 0.553 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 98 0 0 37 12 24.4898 ZBTB48 0 genome.wustl.edu 37 1 6649079 6649079 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 6649079 6649079 T C SNP ZBTB48 ENST00000377674 human ensembl 74_37 +1 known missense c.1874 p.V625A 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB48 HGNC ENSG00000204859 107 1 0.925926 88 28 24.1379 DNAJC11 0 genome.wustl.edu 37 1 6712987 6712987 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 6712987 6712987 C T SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known missense c.532 p.A178T 1.000 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 152 1 0.653595 104 12 10.3448 WDR78 0 genome.wustl.edu 37 1 67356835 67356835 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 67356835 67356835 A G SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known splice_site c.643+2 e4+2 1.000 - - - no_errors WDR78 HGNC ENSG00000152763 134 0 0 91 9 9 MIER1 0 genome.wustl.edu 37 1 67411924 67411924 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 67411924 67411924 A G SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known silent c.285 p.E95 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 98 0 0 71 6 7.79221 SLC35D1 0 genome.wustl.edu 37 1 67512970 67512970 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 67512970 67512970 A G SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known missense c.614 p.V205A 1.000 pfam_Tpt_PEP_trans_dom pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 87 0 0 54 5 8.47458 IL23R 0 genome.wustl.edu 37 1 67721560 67721560 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 67721560 67721560 T C SNP IL23R ENST00000347310 human ensembl 74_37 +1 known missense c.1189 p.Y397H 0.998 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 69 0 0 48 6 11.1111 IL12RB2 0 genome.wustl.edu 37 1 67787284 67787284 + Splice_Site SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 67787284 67787284 G C SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known splice_site c.77-1 e2-1 1.000 - - - no_errors IL12RB2 HGNC ENSG00000081985 138 0 0 118 8 6.34921 LRRC7 0 genome.wustl.edu 37 1 70226075 70226075 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 70226075 70226075 A G SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.188 p.K63R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 48 0 0 29 5 14.7059 LRRC7 0 genome.wustl.edu 37 1 70504911 70504911 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 70504911 70504911 C T SNP LRRC7 ENST00000035383 human ensembl 74_37 +1 known missense c.3290 p.A1097V 0.986 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 106 0 0 110 9 7.56303 SRSF11 0 genome.wustl.edu 37 1 70694201 70694201 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 70694201 70694201 C T SNP SRSF11 ENST00000370950 human ensembl 74_37 +1 known silent c.300 p.F100 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 134 0 0 119 9 7.03125 SRSF11 0 genome.wustl.edu 37 1 70710485 70710485 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 70710485 70710485 A G SNP SRSF11 ENST00000370950 human ensembl 74_37 +1 known missense c.919 p.T307A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 50 0 0 48 3 5.88235 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74737329 74737329 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 74737329 74737329 A G SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.723 p.I241M 0.989 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 185 0 0 137 19 12.1795 C1orf173 0 genome.wustl.edu 37 1 75036811 75036811 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 75036811 75036811 A G SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.4583 p.V1528A 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 144 0 0 135 18 11.7647 C1orf173 0 genome.wustl.edu 37 1 75072508 75072508 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 75072508 75072508 C A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.1266 p.E422D 0.210 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 165 0 0 139 13 8.55263 CRYZ 0 genome.wustl.edu 37 1 75175906 75175906 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 75175906 75175906 G T SNP CRYZ ENST00000340866 human ensembl 74_37 -1 known missense c.506 p.A169D 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors CRYZ HGNC ENSG00000116791 78 0 0 59 4 6.34921 ASB17 0 genome.wustl.edu 37 1 76384670 76384670 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 76384670 76384670 A G SNP ASB17 ENST00000284142 human ensembl 74_37 -1 known silent c.855 p.A285 0.889 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 118 0 0 76 5 6.17284 CAMTA1 0 genome.wustl.edu 37 1 7797373 7797373 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 7797373 7797373 G A SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3401 p.R1134H 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 120 0 0 88 33 27.2727 CAMTA1 0 genome.wustl.edu 37 1 7798045 7798045 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 7798045 7798045 T G SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.3685 p.S1229A 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 134 0 0 94 9 8.73786 ZZZ3 0 genome.wustl.edu 37 1 78047779 78047779 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 78047779 78047779 A G SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known silent c.1677 p.V559 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 268 0 0 180 19 9.54774 USP33 0 genome.wustl.edu 37 1 78194238 78194238 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 78194238 78194238 A G SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.970 p.C324R 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 149 0 0 82 5 5.74713 USP33 0 genome.wustl.edu 37 1 78205094 78205094 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 78205094 78205094 C T SNP USP33 ENST00000357428 human ensembl 74_37 -1 known silent c.300 p.K100 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 77 0 0 41 3 6.81818 USP33 0 genome.wustl.edu 37 1 78207399 78207399 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 78207399 78207399 T C SNP USP33 ENST00000357428 human ensembl 74_37 -1 known missense c.77 p.E26G 0.005 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,pfam_Znf_UBP,smart_Znf_UBP,smart_Pept_C19_DUSP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP33 HGNC ENSG00000077254 72 0 0 40 4 9.09091 FUBP1 0 genome.wustl.edu 37 1 78425903 78425903 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 78425903 78425903 A T SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known nonsense c.1605 p.Y535* 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 84 0 0 73 7 8.75 FUBP1 0 genome.wustl.edu 37 1 78429943 78429943 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 78429943 78429943 C T SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known silent c.999 p.K333 0.984 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 75 0 0 69 6 8 PER3 0 genome.wustl.edu 37 1 7887864 7887864 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 7887864 7887864 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known nonsense c.2851 p.Q951* 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 52 0 0 51 7 12.069 IFI44 0 genome.wustl.edu 37 1 79129502 79129502 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 79129502 79129502 T C SNP IFI44 ENST00000472152 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IFI44 HGNC ENSG00000137965 55 0 0 35 2 5.40541 LPHN2 0 genome.wustl.edu 37 1 82432273 82432273 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 82432273 82432273 T C SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.2317 p.F773L 1.000 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 182 0 0 150 15 9.09091 LPHN2 0 genome.wustl.edu 37 1 82436047 82436047 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 82436047 82436047 C T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.2771 p.A924V 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 187 0 0 128 10 7.24638 LPHN2 0 genome.wustl.edu 37 1 82447656 82447656 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 82447656 82447656 A G SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.3311 p.K1104R 1.000 prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 89 0 0 54 8 12.9032 LPHN2 0 genome.wustl.edu 37 1 82456638 82456638 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 82456638 82456638 T C SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.4234 p.S1412P 1.000 pfam_GPCR_2_latrophilin_rcpt_C pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 86 0 0 79 10 11.236 RERE 0 genome.wustl.edu 37 1 8418702 8418702 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 8418702 8418702 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3893 p.T1298I 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 48 0 0 46 4 8 TTLL7 0 genome.wustl.edu 37 1 84394847 84394847 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 84394847 84394847 G A SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known silent c.1114 p.L372 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 87 0 0 66 5 7.04225 TTLL7 0 genome.wustl.edu 37 1 84394887 84394887 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 84394887 84394887 A G SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known silent c.1074 p.T358 0.999 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 86 0 0 66 7 9.58904 TTLL7 0 genome.wustl.edu 37 1 84403686 84403686 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 84403686 84403686 A G SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.737 p.M246T 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 129 0 0 103 11 9.64912 TTLL7 0 genome.wustl.edu 37 1 84417647 84417647 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 84417647 84417647 G A SNP TTLL7 ENST00000260505 human ensembl 74_37 -1 known missense c.38 p.P13L 0.821 NULL pfam_TTL/TTLL_fam - no_errors TTLL7 HGNC ENSG00000137941 73 0 0 54 8 12.9032 DNASE2B 0 genome.wustl.edu 37 1 84864327 84864327 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 84864327 84864327 C T SNP DNASE2B ENST00000370665 human ensembl 74_37 +1 known missense c.80 p.A27V 0.033 pfam_DNase_II pfam_DNase_II - no_errors DNASE2B HGNC ENSG00000137976 252 0 0 184 48 20.6897 RPF1 0 genome.wustl.edu 37 1 84961748 84961748 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 84961748 84961748 T C SNP RPF1 ENST00000370654 human ensembl 74_37 +1 known splice_site c.881+2 e7+2 1.000 - - - no_errors RPF1 HGNC ENSG00000117133 60 0 0 48 3 5.88235 SSX2IP 0 genome.wustl.edu 37 1 85128059 85128059 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 85128059 85128059 C T SNP SSX2IP ENST00000342203 human ensembl 74_37 -1 known splice_site c.750-1 e7-1 1.000 - - - no_errors SSX2IP HGNC ENSG00000117155 101 0 0 80 10 11.1111 LPAR3 0 genome.wustl.edu 37 1 85279740 85279740 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 85279740 85279740 A C SNP LPAR3 ENST00000370611 human ensembl 74_37 -1 known missense c.851 p.L284R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt - no_errors LPAR3 HGNC ENSG00000171517 79 0 0 99 7 6.60377 MCOLN3 0 genome.wustl.edu 37 1 85484879 85484879 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 85484879 85484879 T A SNP MCOLN3 ENST00000370589 human ensembl 74_37 -1 known missense c.1589 p.D530V 1.000 NULL pfam_PKD1_2_channel - no_errors MCOLN3 HGNC ENSG00000055732 110 0 0 76 4 5 RERE 0 genome.wustl.edu 37 1 8568729 8568729 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 8568729 8568729 A G SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.836 p.L279P 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 86 0 0 68 10 12.8205 PKN2 0 genome.wustl.edu 37 1 89226053 89226053 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 89226053 89226053 T C SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known silent c.498 p.S166 0.997 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 217 0 0 117 17 12.6866 GBP1 0 genome.wustl.edu 37 1 89521797 89521797 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 89521797 89521797 C T SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.1270 p.A424T 0.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 245 0 0 200 15 6.97674 GBP1 0 genome.wustl.edu 37 1 89523757 89523757 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 89523757 89523757 T C SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known silent c.792 p.Q264 0.089 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 284 2 0.699301 177 51 22.3684 GBP1 0 genome.wustl.edu 37 1 89528932 89528932 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 89528932 89528932 C A SNP GBP1 ENST00000469194 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GBP1 HGNC ENSG00000117228 108 1 0.917431 96 6 5.88235 GBP5 0 genome.wustl.edu 37 1 89727976 89727976 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 89727976 89727976 T C SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.1574 p.Q525R 0.888 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 128 0 0 100 7 6.54206 LRRC8D 0 genome.wustl.edu 37 1 90400154 90400154 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 90400154 90400154 T C SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known silent c.1527 p.I509 0.927 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 126 0 0 90 20 18.1818 BARHL2 0 genome.wustl.edu 37 1 91180132 91180132 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 91180132 91180132 G A SNP BARHL2 ENST00000370445 human ensembl 74_37 -1 known silent c.807 p.L269 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 107 0 0 102 6 5.55556 ZNF644 0 genome.wustl.edu 37 1 91382481 91382481 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 91382481 91382481 T A SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known silent c.3858 p.R1286 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 78 0 0 60 5 7.69231 HFM1 0 genome.wustl.edu 37 1 91779569 91779569 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 91779569 91779569 C T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known silent c.3189 p.V1063 0.928 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 250 0 0 164 13 7.34463 HFM1 0 genome.wustl.edu 37 1 91816380 91816380 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 91816380 91816380 A G SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known silent c.2121 p.H707 0.985 pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 172 0 0 84 14 14.2857 GPR157 0 genome.wustl.edu 37 1 9188749 9188749 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 9188749 9188749 C T SNP GPR157 ENST00000377411 human ensembl 74_37 -1 known missense c.338 p.R113H 0.057 pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_Rhodpsn,pfam_Frizzled,pfscan_GPCR_Rhodpsn_7TM,pfscan_GPCR_2-like,prints_GCR1-cAMP_receptor - no_errors GPR157 HGNC ENSG00000180758 31 0 0 32 8 20 BRDT 0 genome.wustl.edu 37 1 92428390 92428390 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 92428390 92428390 C T SNP BRDT ENST00000362005 human ensembl 74_37 +1 known nonsense c.79 p.R27* 0.920 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 128 0 0 92 8 8 BRDT 0 genome.wustl.edu 37 1 92433761 92433761 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 92433761 92433761 T C SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.389 p.L130S 0.994 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 69 0 0 49 5 9.25926 CCDC18 0 genome.wustl.edu 37 1 93651933 93651933 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 93651933 93651933 A G SNP CCDC18 ENST00000557479 human ensembl 74_37 +1 known missense c.689 p.E230G 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 75 0 0 43 3 6.52174 BCAR3 0 genome.wustl.edu 37 1 94033334 94033334 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94033334 94033334 C T SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known silent c.2049 p.Q683 0.997 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 118 0 0 99 11 10 BCAR3 0 genome.wustl.edu 37 1 94049596 94049596 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94049596 94049596 A G SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known missense c.1012 p.S338P 1.000 NULL pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 76 0 0 85 6 6.59341 BCAR3 0 genome.wustl.edu 37 1 94054955 94054955 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94054955 94054955 G A SNP BCAR3 ENST00000260502 human ensembl 74_37 -1 known nonsense c.508 p.R170* 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors BCAR3 HGNC ENSG00000137936 40 0 0 28 7 20 DNTTIP2 0 genome.wustl.edu 37 1 94335500 94335500 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94335500 94335500 T A SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known missense c.2178 p.R726S 0.956 pfam_Fcf2 pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 72 0 0 65 5 7.14286 DNTTIP2 0 genome.wustl.edu 37 1 94338708 94338708 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94338708 94338708 A G SNP DNTTIP2 ENST00000359208 human ensembl 74_37 -1 known missense c.1730 p.V577A 0.975 NULL NULL - no_errors DNTTIP2 HGNC ENSG00000067334 92 0 0 64 8 11.1111 ABCA4 0 genome.wustl.edu 37 1 94476478 94476478 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94476478 94476478 C T SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.5592 p.E1864 0.982 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 75 0 0 58 10 14.7059 ABCA4 0 genome.wustl.edu 37 1 94544162 94544162 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94544162 94544162 T C SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.1340 p.Q447R 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 240 0 0 226 14 5.83333 ABCD3 0 genome.wustl.edu 37 1 94955477 94955477 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 94955477 94955477 T G SNP ABCD3 ENST00000454898 human ensembl 74_37 +1 known missense c.1340 p.V447G 0.000 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 176 0 0 122 29 19.2053 DPYD 0 genome.wustl.edu 37 1 97839124 97839124 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 97839124 97839124 C T SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.2051 p.C684Y 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 87 0 0 56 5 8.19672 AGRN 0 genome.wustl.edu 37 1 985290 985290 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 985290 985290 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.4752 p.T1584 0.995 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 53 0 0 56 4 6.66667 AGRN 0 genome.wustl.edu 37 1 986870 986870 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 986870 986870 A G SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.5408 p.H1803R 0.990 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 15 0 0 6 3 33.3333 AGRN 0 genome.wustl.edu 37 1 987126 987126 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 987126 987126 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.5582 p.A1861V 0.753 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 42 0 0 48 6 11.1111 CTNNBIP1 0 genome.wustl.edu 37 1 9910819 9910819 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 9910819 9910819 A G SNP CTNNBIP1 ENST00000377256 human ensembl 74_37 -1 known missense c.203 p.V68A 1.000 pfam_ICAT,superfamily_ICAT pfam_ICAT,superfamily_ICAT - no_errors CTNNBIP1 HGNC ENSG00000178585 115 0 0 96 7 6.79612 LPPR4 0 genome.wustl.edu 37 1 99771407 99771407 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 99771407 99771407 G A SNP LPPR4 ENST00000370185 human ensembl 74_37 +1 known missense c.1133 p.R378Q 0.991 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR4 Uniprot_gn ENSG00000117600 119 0 0 108 8 6.89655 PYROXD2 0 genome.wustl.edu 37 10 100143449 100143449 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 100143449 100143449 T C SNP PYROXD2 ENST00000483923 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PYROXD2 HGNC ENSG00000119943 70 0 0 66 8 10.8108 PYROXD2 0 genome.wustl.edu 37 10 100157113 100157113 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 100157113 100157113 A G SNP PYROXD2 ENST00000370575 human ensembl 74_37 -1 known missense c.614 p.L205P 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase - no_errors PYROXD2 HGNC ENSG00000119943 119 0 0 81 14 14.7368 CNNM1 0 genome.wustl.edu 37 10 101122008 101122008 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 101122008 101122008 A G SNP CNNM1 ENST00000356713 human ensembl 74_37 +1 known missense c.1883 p.Y628C 1.000 NULL pfam_DUF21,pfam_CBS_dom - no_errors CNNM1 HGNC ENSG00000119946 28 0 0 29 3 9.375 SLC25A28 0 genome.wustl.edu 37 10 101370714 101370714 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 101370714 101370714 C A SNP SLC25A28 ENST00000370495 human ensembl 74_37 -1 known missense c.987 p.Q329H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A28 HGNC ENSG00000155287 76 0 0 77 10 11.4943 ENTPD7 0 genome.wustl.edu 37 10 101445607 101445607 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 101445607 101445607 C A SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.607 p.L203I 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 123 1 0.806452 90 5 5.26316 ENTPD7 0 genome.wustl.edu 37 10 101462387 101462387 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 101462387 101462387 A G SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.1540 p.T514A 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 34 0 0 33 8 19.5122 DNMBP 0 genome.wustl.edu 37 10 101728939 101728939 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 101728939 101728939 T C SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known silent c.201 p.G67 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 87 0 0 52 7 11.8644 CPN1 0 genome.wustl.edu 37 10 101835695 101835695 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 101835695 101835695 G T SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known silent c.393 p.P131 0.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 51 0 0 37 8 17.7778 LZTS2 0 genome.wustl.edu 37 10 102765378 102765378 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 102765378 102765378 T C SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.1232 p.L411P 1.000 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 41 0 0 43 3 6.52174 POLL 0 genome.wustl.edu 37 10 103344632 103344632 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103344632 103344632 A G SNP POLL ENST00000436284 human ensembl 74_37 -1 known missense c.191 p.L64S 1.000 NULL superfamily_BRCT_dom,pfscan_BRCT_dom - no_errors POLL HGNC ENSG00000166169 28 0 0 19 5 20.8333 MGEA5 0 genome.wustl.edu 37 10 103553732 103553732 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103553732 103553732 G A SNP MGEA5 ENST00000361464 human ensembl 74_37 -1 known nonsense c.2008 p.Q670* 1.000 NULL pfam_Beta-N-acetylglucosaminidase,superfamily_Glycoside_hydrolase_SF,superfamily_Acyl_CoA_acyltransferase - no_errors MGEA5 HGNC ENSG00000198408 346 0 0 234 82 25.9494 HPS6 0 genome.wustl.edu 37 10 103825824 103825824 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103825824 103825824 G T SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known missense c.593 p.R198I 0.006 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 41 0 0 45 4 8.16327 PPRC1 0 genome.wustl.edu 37 10 103900766 103900766 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103900766 103900766 C T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.2501 p.P834L 0.959 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 63 0 0 62 5 7.46269 PPRC1 0 genome.wustl.edu 37 10 103908403 103908403 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103908403 103908403 A G SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known silent c.4569 p.S1523 0.013 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 184 0 0 163 17 9.44444 PPRC1 0 genome.wustl.edu 37 10 103908641 103908641 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103908641 103908641 G T SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.4685 p.R1562M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 71 0 0 56 19 25.3333 NOLC1 0 genome.wustl.edu 37 10 103918966 103918966 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103918966 103918966 A G SNP NOLC1 ENST00000603946 human ensembl 74_37 +1 known missense c.137 p.K46R 0.467 NULL pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 227 0 0 233 14 5.66802 NOLC1 0 genome.wustl.edu 37 10 103920746 103920746 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103920746 103920746 C T SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.1667 p.A556V 0.992 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 68 0 0 90 6 6.25 GBF1 0 genome.wustl.edu 37 10 104118448 104118448 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 104118448 104118448 A G SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.973 p.S325G 0.941 superfamily_ARM-type_fold pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 43 0 0 46 4 8 ACTR1A 0 genome.wustl.edu 37 10 104247992 104247992 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 104247992 104247992 T C SNP ACTR1A ENST00000369905 human ensembl 74_37 -1 known missense c.230 p.H77R 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1A HGNC ENSG00000138107 87 0 0 92 6 6.12245 ARL3 0 genome.wustl.edu 37 10 104445597 104445597 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 104445597 104445597 T C SNP ARL3 ENST00000260746 human ensembl 74_37 -1 known silent c.477 p.S159 0.915 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,prints_Gprotein_alpha_su,tigrfam_Small_GTP-bd_dom - no_errors ARL3 HGNC ENSG00000138175 78 0 0 72 11 13.253 WBP1L 0 genome.wustl.edu 37 10 104557771 104557771 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 104557771 104557771 A G SNP WBP1L ENST00000448841 human ensembl 74_37 +1 known missense c.112 p.T38A 0.995 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1L HGNC ENSG00000166272 111 0 0 82 5 5.74713 CNNM2 0 genome.wustl.edu 37 10 104679501 104679501 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 104679501 104679501 G A SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.1264 p.D422N 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 58 0 0 51 9 15 CNNM2 0 genome.wustl.edu 37 10 104836918 104836918 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 104836918 104836918 A G SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.2609 p.H870R 1.000 NULL pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 46 0 0 61 6 8.95522 INA 0 genome.wustl.edu 37 10 105037837 105037837 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105037837 105037837 A C SNP INA ENST00000369849 human ensembl 74_37 +1 known missense c.869 p.K290T 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC ENSG00000148798 35 0 0 32 5 13.5135 PDCD11 0 genome.wustl.edu 37 10 105185263 105185263 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105185263 105185263 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known nonsense c.3286 p.R1096* 0.991 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 61 0 0 41 4 8.88889 PDCD11 0 genome.wustl.edu 37 10 105203692 105203692 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105203692 105203692 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.5145 p.N1715 1.000 smart_HAT,pfscan_TPR-contain_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 136 0 0 129 17 11.6438 OBFC1 0 genome.wustl.edu 37 10 105677279 105677279 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105677279 105677279 G A SNP OBFC1 ENST00000224950 human ensembl 74_37 -1 known missense c.74 p.A25V 1.000 pirsf_CST_STN1 pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 77 0 0 83 6 6.74157 SLK 0 genome.wustl.edu 37 10 105761204 105761204 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105761204 105761204 T C SNP SLK ENST00000369755 human ensembl 74_37 +1 known silent c.867 p.H289 1.000 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_PKK,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UVR_dom,pfscan_Prot_kinase_dom - no_errors SLK HGNC ENSG00000065613 59 0 0 42 9 17.6471 COL17A1 0 genome.wustl.edu 37 10 105799267 105799267 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105799267 105799267 A C SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.2832 p.S944 0.035 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 70 0 0 80 7 8.04598 COL17A1 0 genome.wustl.edu 37 10 105815736 105815736 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105815736 105815736 C T SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.1491 p.A497 0.003 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 113 1 0.877193 103 10 8.84956 COL17A1 0 genome.wustl.edu 37 10 105817937 105817937 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 105817937 105817937 T A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.1234 p.T412S 0.004 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 75 0 0 60 8 11.7647 SORCS3 0 genome.wustl.edu 37 10 106602578 106602578 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 106602578 106602578 A G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.656 p.D219G 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 115 1 0.862069 80 12 13.0435 XPNPEP1 0 genome.wustl.edu 37 10 111642211 111642211 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 111642211 111642211 A G SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known silent c.1020 p.A340 0.329 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 67 0 0 52 14 21.2121 ADD3 0 genome.wustl.edu 37 10 111876060 111876060 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 111876060 111876060 T A SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.378 p.D126E 0.961 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 97 0 0 83 8 8.79121 ADD3 0 genome.wustl.edu 37 10 111879279 111879279 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 111879279 111879279 C T SNP ADD3 ENST00000356080 human ensembl 74_37 +1 known missense c.917 p.A306V 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 275 0 0 199 21 9.54545 SMNDC1 0 genome.wustl.edu 37 10 112053968 112053968 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 112053968 112053968 T G SNP SMNDC1 ENST00000369603 human ensembl 74_37 -1 known missense c.657 p.K219N 1.000 NULL pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor - no_errors SMNDC1 HGNC ENSG00000119953 140 0 0 133 8 5.67376 DUSP5 0 genome.wustl.edu 37 10 112266745 112266745 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 112266745 112266745 C T SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.581 p.A194V 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 322 0 0 265 25 8.62069 SMC3 0 genome.wustl.edu 37 10 112349459 112349459 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 112349459 112349459 G T SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known nonsense c.1402 p.E468* 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 59 0 0 27 11 28.9474 SMC3 0 genome.wustl.edu 37 10 112357915 112357915 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 112357915 112357915 A G SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.2135 p.D712G 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 215 1 0.462963 147 22 13.0178 SHOC2 0 genome.wustl.edu 37 10 112769025 112769025 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 112769025 112769025 A T SNP SHOC2 ENST00000369452 human ensembl 74_37 +1 known missense c.1304 p.N435I 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors SHOC2 HGNC ENSG00000108061 56 0 0 42 5 10.6383 ADRA2A 0 genome.wustl.edu 37 10 112838304 112838304 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 112838304 112838304 C T SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.550 p.L184F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 24 0 0 20 3 13.0435 TCF7L2 0 genome.wustl.edu 37 10 114925317 114925317 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 114925317 114925317 A G SNP TCF7L2 ENST00000355717 human ensembl 74_37 +1 known missense c.1394 p.E465G 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 176 0 0 156 20 11.3636 NRAP 0 genome.wustl.edu 37 10 115372156 115372156 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115372156 115372156 G A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.3359 p.A1120V 0.981 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 73 0 0 54 7 11.4754 NRAP 0 genome.wustl.edu 37 10 115375543 115375543 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115375543 115375543 C A SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.3030 p.K1010N 1.000 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 32 0 0 33 3 8.33333 NRAP 0 genome.wustl.edu 37 10 115411615 115411615 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115411615 115411615 C T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.622 p.V208M 0.998 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 55 0 0 46 7 13.2075 DCLRE1A 0 genome.wustl.edu 37 10 115602112 115602112 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115602112 115602112 T C SNP DCLRE1A ENST00000361384 human ensembl 74_37 -1 known silent c.2655 p.K885 1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 157 1 0.632911 102 16 13.5593 NHLRC2 0 genome.wustl.edu 37 10 115639443 115639443 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115639443 115639443 C A SNP NHLRC2 ENST00000369301 human ensembl 74_37 +1 known missense c.898 p.L300I 1.000 pfam_NHL_repeat pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 90 0 0 60 7 10.4478 ADRB1 0 genome.wustl.edu 37 10 115804281 115804281 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115804281 115804281 C A SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.390 p.F130L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 105 1 0.943396 96 12 11.1111 VWA2 0 genome.wustl.edu 37 10 116038533 116038533 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 116038533 116038533 G A SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.756 p.E252 0.999 NULL pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 77 0 0 100 7 6.54206 VWA2 0 genome.wustl.edu 37 10 116046101 116046101 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 116046101 116046101 C T SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known silent c.1401 p.H467 0.001 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 89 0 0 94 11 10.4762 VWA2 0 genome.wustl.edu 37 10 116049204 116049204 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 116049204 116049204 A G SNP VWA2 ENST00000392982 human ensembl 74_37 +1 known missense c.2078 p.D693G 1.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EG-like_dom,pfam_EGF_extracell,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors VWA2 HGNC ENSG00000165816 50 0 0 59 4 6.34921 ABLIM1 0 genome.wustl.edu 37 10 116245123 116245123 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 116245123 116245123 C T SNP ABLIM1 ENST00000369266 human ensembl 74_37 -1 known missense c.110 p.R37H 0.020 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors ABLIM1 HGNC ENSG00000099204 27 0 0 17 6 26.087 FAM160B1 0 genome.wustl.edu 37 10 116595304 116595304 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 116595304 116595304 G A SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known silent c.303 p.P101 0.995 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 110 0 0 86 12 12.2449 FAM160B1 0 genome.wustl.edu 37 10 116608429 116608429 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 116608429 116608429 A G SNP FAM160B1 ENST00000369248 human ensembl 74_37 +1 known missense c.1736 p.D579G 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160B1 HGNC ENSG00000151553 77 0 0 59 5 7.8125 ATRNL1 0 genome.wustl.edu 37 10 117154195 117154195 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 117154195 117154195 A T SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3202 p.I1068F 0.992 smart_EGF_laminin 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 79 0 0 45 7 13.4615 PNLIPRP1 0 genome.wustl.edu 37 10 118368620 118368620 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 118368620 118368620 C T SNP PNLIPRP1 ENST00000358834 human ensembl 74_37 +1 known missense c.1396 p.P466S 0.986 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 50 0 0 45 4 8.16327 PNLIPRP2 0 genome.wustl.edu 37 10 118380487 118380487 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 118380487 118380487 C T SNP PNLIPRP2 ENST00000298771 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PNLIPRP2 HGNC ENSG00000165862 19 0 0 18 3 14.2857 PNLIPRP2 0 genome.wustl.edu 37 10 118394418 118394418 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 118394418 118394418 A G SNP PNLIPRP2 ENST00000537242 human ensembl 74_37 +1 known missense c.884 p.N295S 0.044 pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,prints_Lipase pirsf_Lipoprotein_lipase_LIPH,pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase,pfscan_PLAT/LH2_dom - no_errors PNLIPRP2 HGNC ENSG00000165862 67 0 0 45 4 8.16327 HSPA12A 0 genome.wustl.edu 37 10 118439134 118439134 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 118439134 118439134 C T SNP HSPA12A ENST00000369209 human ensembl 74_37 -1 known missense c.1166 p.R389H 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 109 0 0 99 11 10 KIAA1598 0 genome.wustl.edu 37 10 118719729 118719729 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 118719729 118719729 A G SNP KIAA1598 ENST00000392903 human ensembl 74_37 -1 known missense c.185 p.V62A 1.000 NULL superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 49 0 0 36 4 10 KCNK18 0 genome.wustl.edu 37 10 118969029 118969029 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 118969029 118969029 T G SNP KCNK18 ENST00000334549 human ensembl 74_37 +1 known missense c.374 p.V125G 0.311 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl - no_errors KCNK18 HGNC ENSG00000186795 333 0 0 314 18 5.42169 RAB11FIP2 0 genome.wustl.edu 37 10 119799972 119799972 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 119799972 119799972 T C SNP RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known missense c.458 p.D153G 1.000 superfamily_C2_dom pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 96 0 0 57 4 6.55738 EIF3A 0 genome.wustl.edu 37 10 120810101 120810101 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 120810101 120810101 C T SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known missense c.2405 p.R802H 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 273 1 0.364964 251 17 6.34328 EIF3A 0 genome.wustl.edu 37 10 120818859 120818859 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 120818859 120818859 A G SNP EIF3A ENST00000369144 human ensembl 74_37 -1 known silent c.1494 p.N498 1.000 smart_PCI_dom pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 92 0 0 71 7 8.97436 INPP5F 0 genome.wustl.edu 37 10 121582627 121582627 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 121582627 121582627 C T SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known nonsense c.2077 p.R693* 1.000 pfam_Inositol_phosphatase pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 89 0 0 77 7 8.33333 FGFR2 0 genome.wustl.edu 37 10 123247527 123247527 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 123247527 123247527 T C SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.1967 p.D656G 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 192 0 0 150 17 10.1796 TACC2 0 genome.wustl.edu 37 10 123810012 123810012 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 123810012 123810012 A G SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.93 p.I31M 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 63 0 0 41 6 12.766 HTRA1 0 genome.wustl.edu 37 10 124249068 124249068 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124249068 124249068 G A SNP HTRA1 ENST00000368984 human ensembl 74_37 +1 known missense c.703 p.G235S 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA1 HGNC ENSG00000166033 77 0 0 65 12 15.5844 DMBT1 0 genome.wustl.edu 37 10 124345846 124345846 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124345846 124345846 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.1730 p.G577D 0.003 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 69 0 0 49 14 22.2222 DMBT1 0 genome.wustl.edu 37 10 124358514 124358514 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124358514 124358514 C T SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.3181 p.R1061C 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 159 0 0 142 19 11.8012 DMBT1 0 genome.wustl.edu 37 10 124402748 124402748 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124402748 124402748 G A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.7076 p.R2359H 0.980 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 126 0 0 107 20 15.748 C10orf88 0 genome.wustl.edu 37 10 124712522 124712522 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124712522 124712522 T C SNP C10orf88 ENST00000481909 human ensembl 74_37 -1 known missense c.191 p.N64S 0.001 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 33 0 0 28 4 12.5 IKZF5 0 genome.wustl.edu 37 10 124753312 124753312 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124753312 124753312 T C SNP IKZF5 ENST00000368886 human ensembl 74_37 -1 known missense c.1244 p.Q415R 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 117 0 0 80 7 8.04598 IKZF5 0 genome.wustl.edu 37 10 124758027 124758027 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124758027 124758027 C T SNP IKZF5 ENST00000368886 human ensembl 74_37 -1 known missense c.115 p.A39T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 82 0 0 64 6 8.57143 HMX3 0 genome.wustl.edu 37 10 124897045 124897045 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124897045 124897045 A T SNP HMX3 ENST00000357878 human ensembl 74_37 +1 known missense c.872 p.E291V 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX3 HGNC ENSG00000188620 49 0 0 33 4 10.8108 ZRANB1 0 genome.wustl.edu 37 10 126662901 126662901 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 126662901 126662901 G A SNP ZRANB1 ENST00000359653 human ensembl 74_37 +1 known missense c.1361 p.G454D 1.000 pfam_OTU,pfscan_OTU pfam_OTU,pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_OTU,pfscan_Znf_RanBP2 - no_errors ZRANB1 HGNC ENSG00000019995 112 1 0.884956 94 5 5.05051 CTBP2 0 genome.wustl.edu 37 10 126683094 126683094 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 126683094 126683094 G A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.2344 p.H782Y 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 59 0 0 42 14 25 CTBP2 0 genome.wustl.edu 37 10 126716040 126716040 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 126716040 126716040 C A SNP CTBP2 ENST00000309035 human ensembl 74_37 -1 known missense c.289 p.A97S 0.996 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 75 0 0 70 20 22.2222 C10orf137 0 genome.wustl.edu 37 10 127422661 127422661 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 127422661 127422661 T A SNP C10orf137 ENST00000356792 human ensembl 74_37 +1 known missense c.1406 p.M469K 1.000 NULL NULL - no_errors C10orf137 HGNC ENSG00000107938 109 0 0 70 12 14.6341 MMP21 0 genome.wustl.edu 37 10 127460903 127460903 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 127460903 127460903 A C SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.863 p.V288G 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 53 0 0 65 7 9.72222 ADAM12 0 genome.wustl.edu 37 10 127789653 127789653 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 127789653 127789653 G A SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.908 p.A303V 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 59 0 0 64 9 12.3288 DOCK1 0 genome.wustl.edu 37 10 128797654 128797654 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 128797654 128797654 A T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.804 p.L268F 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 72 0 0 53 10 15.873 DOCK1 0 genome.wustl.edu 37 10 128908583 128908583 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 128908583 128908583 T C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.2525 p.I842T 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 50 0 0 28 3 9.67742 FAM196A 0 genome.wustl.edu 37 10 128974382 128974382 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 128974382 128974382 C T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.278 p.R93H 0.995 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 79 0 0 57 9 13.6364 MKI67 0 genome.wustl.edu 37 10 129901497 129901497 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 129901497 129901497 C T SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.8607 p.T2869 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 173 0 0 170 12 6.59341 MKI67 0 genome.wustl.edu 37 10 129901518 129901518 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 129901518 129901518 T C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.8586 p.T2862 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 162 0 0 153 9 5.55556 MKI67 0 genome.wustl.edu 37 10 129905845 129905845 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 129905845 129905845 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.4259 p.T1420R 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 312 0 0 267 64 19.3353 MKI67 0 genome.wustl.edu 37 10 129907158 129907158 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 129907158 129907158 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.2946 p.G982 0.006 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 333 0 0 316 28 8.13953 OPTN 0 genome.wustl.edu 37 10 13164419 13164419 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 13164419 13164419 T C SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.814 p.S272P 0.016 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 62 0 0 32 2 5.88235 EBF3 0 genome.wustl.edu 37 10 131761907 131761907 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 131761907 131761907 G T SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known silent c.126 p.A42 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 24 0 0 34 3 8.10811 OPTN 0 genome.wustl.edu 37 10 13178916 13178916 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 13178916 13178916 C T SNP OPTN ENST00000469025 human ensembl 74_37 +1 known rna NULL NULL 0.747 - - - no_errors OPTN HGNC ENSG00000123240 86 0 0 71 8 10.1266 MCM10 0 genome.wustl.edu 37 10 13224949 13224949 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 13224949 13224949 T G SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.950 p.I317R 1.000 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 72 0 0 72 5 6.49351 JAKMIP3 0 genome.wustl.edu 37 10 133955535 133955535 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 133955535 133955535 G A SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known missense c.1585 p.A529T 1.000 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 10 0 0 7 3 30 DPYSL4 0 genome.wustl.edu 37 10 134017367 134017367 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 134017367 134017367 C T SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known silent c.1563 p.S521 1.000 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 96 0 0 117 9 7.14286 TTC40 0 genome.wustl.edu 37 10 134755109 134755109 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 134755109 134755109 A G SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.292 p.S98P 0.888 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 47 0 0 54 5 8.47458 BEND7 0 genome.wustl.edu 37 10 13481460 13481460 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 13481460 13481460 C T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known silent c.1272 p.G424 0.002 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 42 0 0 53 6 10.1695 GPR123 0 genome.wustl.edu 37 10 134898389 134898389 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 134898389 134898389 G A SNP GPR123 ENST00000607359 human ensembl 74_37 +1 putative missense c.1451 p.G484E 0.000 NULL pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC ENSG00000197177 45 0 0 40 13 24.5283 ADAM8 0 genome.wustl.edu 37 10 135086342 135086342 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 135086342 135086342 A G SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known missense c.665 p.V222A 0.010 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 25 0 0 21 3 12.5 FAM107B 0 genome.wustl.edu 37 10 14572484 14572484 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 14572484 14572484 T A SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known missense c.500 p.D167V 0.901 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 109 0 0 83 7 7.77778 NMT2 0 genome.wustl.edu 37 10 15210574 15210574 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 15210574 15210574 C A SNP NMT2 ENST00000378165 human ensembl 74_37 -1 known missense c.38 p.S13I 1.000 NULL pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT2 HGNC ENSG00000152465 97 0 0 85 5 5.55556 FAM171A1 0 genome.wustl.edu 37 10 15256309 15256309 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 15256309 15256309 G A SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known silent c.1278 p.S426 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 76 0 0 75 13 14.7727 FAM188A 0 genome.wustl.edu 37 10 15883459 15883459 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 15883459 15883459 A G SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known silent c.375 p.S125 0.993 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 76 0 0 50 8 13.7931 PTER 0 genome.wustl.edu 37 10 16528542 16528542 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 16528542 16528542 A T SNP PTER ENST00000298942 human ensembl 74_37 +1 known silent c.624 p.A208 0.575 pfam_Aryldialkylphosphatase,pfam_TatD_family pfam_Aryldialkylphosphatase,pfam_TatD_family - no_errors PTER HGNC ENSG00000165983 102 0 0 77 8 9.41176 TRDMT1 0 genome.wustl.edu 37 10 17195517 17195517 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 17195517 17195517 G A SNP TRDMT1 ENST00000377799 human ensembl 74_37 -1 known missense c.1064 p.P355L 1.000 pfam_C5_MeTfrase,tigrfam_C5_MeTfrase pfam_C5_MeTfrase,prints_C5_MeTfrase,tigrfam_C5_MeTfrase - no_errors TRDMT1 HGNC ENSG00000107614 66 0 0 40 5 11.1111 ADARB2 0 genome.wustl.edu 37 10 1779250 1779250 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 1779250 1779250 C T SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.95 p.R32Q 1.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 79 0 0 62 24 27.907 101928757 0 genome.wustl.edu 37 10 17865224 17865224 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 17865224 17865224 T G SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known missense c.213 p.F71L 0.651 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 202 0 0 178 22 11 101928757 0 genome.wustl.edu 37 10 17891615 17891615 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 17891615 17891615 T A SNP 101928757 ENST00000457317 human ensembl 74_37 +1 known missense c.1096 p.W366R 1.000 pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_Ricin_B_lectin,superfamily_C-type_lectin_fold,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1L1 Clone_based_vega_gene ENSG00000183748 183 0 0 122 9 6.87023 CACNB2 0 genome.wustl.edu 37 10 18825082 18825082 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 18825082 18825082 A G SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.1259 p.N420S 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,prints_VDCC_L_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 47 0 0 36 6 14.2857 CACNB2 0 genome.wustl.edu 37 10 18827115 18827115 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 18827115 18827115 T C SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.1309 p.F437L 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 139 0 0 92 9 8.91089 NSUN6 0 genome.wustl.edu 37 10 18834947 18834947 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 18834947 18834947 G A SNP NSUN6 ENST00000377304 human ensembl 74_37 -1 known missense c.1325 p.A442V 0.985 NULL pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT - no_errors NSUN6 HGNC ENSG00000241058 268 0 0 196 13 6.2201 NEBL 0 genome.wustl.edu 37 10 21309122 21309122 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 21309122 21309122 G A SNP NEBL ENST00000417816 human ensembl 74_37 -1 known missense c.173 p.P58L 1.000 pfam_Znf_LIM,pfscan_Znf_LIM pfam_Nebulin_35r-motif,pfam_Znf_LIM,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_LIM,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 111 0 0 88 16 15.3846 DNAJC1 0 genome.wustl.edu 37 10 22208825 22208825 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 22208825 22208825 T C SNP DNAJC1 ENST00000376980 human ensembl 74_37 -1 known missense c.571 p.K191E 1.000 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 170 0 0 119 16 11.8519 SPAG6 0 genome.wustl.edu 37 10 22676751 22676751 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 22676751 22676751 G A SNP SPAG6 ENST00000376603 human ensembl 74_37 +1 known splice_site c.907-1 e6-1 1.000 - - - no_errors SPAG6 HGNC ENSG00000077327 67 0 0 56 4 6.66667 KIAA1217 0 genome.wustl.edu 37 10 24813641 24813641 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 24813641 24813641 T A SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.2846 p.F949Y 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 78 0 0 48 11 18.6441 ARHGAP21 0 genome.wustl.edu 37 10 24908746 24908746 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 24908746 24908746 G A SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.2078 p.A693V 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 75 0 0 51 6 10.5263 ARHGAP21 0 genome.wustl.edu 37 10 24909193 24909193 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 24909193 24909193 G T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.1631 p.P544H 0.869 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 116 1 0.854701 109 10 8.40336 PRTFDC1 0 genome.wustl.edu 37 10 25226286 25226286 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 25226286 25226286 G A SNP PRTFDC1 ENST00000320152 human ensembl 74_37 -1 known silent c.166 p.L56 0.997 pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC ENSG00000099256 75 0 0 55 6 9.83607 PDSS1 0 genome.wustl.edu 37 10 27035443 27035443 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27035443 27035443 G A SNP PDSS1 ENST00000470978 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PDSS1 HGNC ENSG00000148459 35 0 0 24 12 33.3333 ANKRD26 0 genome.wustl.edu 37 10 27324093 27324093 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27324093 27324093 G A SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.3334 p.R1112W 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 217 0 0 134 32 19.2771 YME1L1 0 genome.wustl.edu 37 10 27409429 27409429 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27409429 27409429 C A SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known missense c.1517 p.R506M 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 113 0 0 58 7 10.7692 ACBD5 0 genome.wustl.edu 37 10 27504523 27504523 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27504523 27504523 T C SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.904 p.T302A 1.000 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 45 0 0 21 2 8.69565 ACBD5 0 genome.wustl.edu 37 10 27512277 27512277 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27512277 27512277 A T SNP ACBD5 ENST00000375888 human ensembl 74_37 -1 known missense c.474 p.D158E 0.983 pirsf_M-assoc_diazepam-bd-inh pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,pirsf_M-assoc_diazepam-bd-inh,prints_Acyl-CoA-binding_protein - no_errors ACBD5 HGNC ENSG00000107897 93 0 0 59 7 10.6061 LRRC37A6P 0 genome.wustl.edu 37 10 27537800 27537800 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27537800 27537800 G T SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.283 - - - no_errors LRRC37A6P HGNC ENSG00000230445 133 0 0 133 7 5 LRRC37A6P 0 genome.wustl.edu 37 10 27538168 27538168 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27538168 27538168 T C SNP LRRC37A6P ENST00000284414 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors LRRC37A6P HGNC ENSG00000230445 163 0 0 139 8 5.44218 PTCHD3 0 genome.wustl.edu 37 10 27688067 27688067 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27688067 27688067 G A SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known missense c.1460 p.A487V 0.970 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 109 0 0 84 12 12.5 WAC 0 genome.wustl.edu 37 10 28878772 28878772 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 28878772 28878772 G A SNP WAC ENST00000354911 human ensembl 74_37 +1 known nonsense c.489 p.W163* 1.000 superfamily_WW_dom pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 173 0 0 111 26 18.9781 WAC 0 genome.wustl.edu 37 10 28903500 28903500 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 28903500 28903500 G C SNP WAC ENST00000354911 human ensembl 74_37 +1 known missense c.1442 p.S481T 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 79 0 0 62 4 6.06061 WAC 0 genome.wustl.edu 37 10 28903522 28903522 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 28903522 28903522 A G SNP WAC ENST00000354911 human ensembl 74_37 +1 known silent c.1464 p.G488 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WAC HGNC ENSG00000095787 74 0 0 58 4 6.45161 BAMBI 0 genome.wustl.edu 37 10 28970330 28970330 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 28970330 28970330 G A SNP BAMBI ENST00000375533 human ensembl 74_37 +1 known missense c.220 p.A74T 0.668 pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib pfam_BMP/activin_membr-bound_inhib,pfam_Activin_rcpt,pirsf_BMP/activin_membr-bound_inhib - no_errors BAMBI HGNC ENSG00000095739 92 0 0 81 11 11.9565 ZMYND11 0 genome.wustl.edu 37 10 294540 294540 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 294540 294540 C A SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.1492 p.L498M 1.000 NULL pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 42 0 0 32 4 11.1111 SVIL 0 genome.wustl.edu 37 10 29759284 29759284 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 29759284 29759284 T C SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.5764 p.I1922V 1.000 smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 119 0 0 108 12 10 SVIL 0 genome.wustl.edu 37 10 29788121 29788121 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 29788121 29788121 C A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.3588 p.E1196D 0.997 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 68 0 0 56 7 11.1111 SVIL 0 genome.wustl.edu 37 10 29811383 29811383 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 29811383 29811383 C A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.3345 p.E1115D 0.410 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 93 0 0 82 6 6.81818 KIAA1462 0 genome.wustl.edu 37 10 30316580 30316580 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 30316580 30316580 T C SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.2497 p.S833G 0.997 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 119 0 0 101 11 9.82143 ZNF438 0 genome.wustl.edu 37 10 31134156 31134156 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 31134156 31134156 T C SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.2221 p.M741V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 132 0 0 125 9 6.71642 PFKP 0 genome.wustl.edu 37 10 3151612 3151612 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 3151612 3151612 C T SNP PFKP ENST00000381125 human ensembl 74_37 +1 known silent c.1029 p.C343 0.996 pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 31 0 0 19 9 32.1429 ZEB1 0 genome.wustl.edu 37 10 31809776 31809776 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 31809776 31809776 A G SNP ZEB1 ENST00000361642 human ensembl 74_37 +1 known missense c.1516 p.S506G 0.986 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ENSG00000148516 121 0 0 91 6 6.18557 EPC1 0 genome.wustl.edu 37 10 32560682 32560682 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 32560682 32560682 T C SNP EPC1 ENST00000263062 human ensembl 74_37 -1 known silent c.2238 p.T746 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 168 0 0 134 11 7.58621 CUL2 0 genome.wustl.edu 37 10 35360229 35360229 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 35360229 35360229 C T SNP CUL2 ENST00000537177 human ensembl 74_37 -1 known missense c.74 p.R25K 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 CUL2 HGNC ENSG00000108094 75 0 0 53 4 7.01754 FZD8 0 genome.wustl.edu 37 10 35929473 35929473 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 35929473 35929473 G A SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known silent c.885 p.T295 0.433 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 35 0 0 32 8 20 KLF6 0 genome.wustl.edu 37 10 3822350 3822350 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 3822350 3822350 G A SNP KLF6 ENST00000497571 human ensembl 74_37 -1 known missense c.748 p.H250Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF6 HGNC ENSG00000067082 79 0 0 75 13 14.7727 ZNF33A 0 genome.wustl.edu 37 10 38345455 38345455 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 38345455 38345455 A T SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known silent c.2421 p.G807 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 82 0 0 43 8 15.6863 DIP2C 0 genome.wustl.edu 37 10 410959 410959 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 410959 410959 A T SNP DIP2C ENST00000381496 human ensembl 74_37 -1 known missense c.1950 p.H650Q 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors DIP2C HGNC ENSG00000151240 39 0 0 19 3 13.6364 ZNF33B 0 genome.wustl.edu 37 10 43089023 43089023 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 43089023 43089023 G T SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.1375 p.H459N 0.989 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 ZNF33B HGNC ENSG00000196693 96 0 0 85 6 6.59341 ZNF33B 0 genome.wustl.edu 37 10 43089341 43089341 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 43089341 43089341 C T SNP ZNF33B ENST00000359467 human ensembl 74_37 -1 known missense c.1057 p.G353R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33B HGNC ENSG00000196693 159 0 0 110 11 9.09091 BMS1 0 genome.wustl.edu 37 10 43325851 43325851 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 43325851 43325851 G A SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.3599 p.R1200H 0.998 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 67 0 0 56 7 11.1111 ZNF32 0 genome.wustl.edu 37 10 44139744 44139744 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 44139744 44139744 A T SNP ZNF32 ENST00000374433 human ensembl 74_37 -1 known missense c.576 p.D192E 0.942 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 97 0 0 104 9 7.9646 ZNF32 0 genome.wustl.edu 37 10 44139814 44139814 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 44139814 44139814 C G SNP ZNF32 ENST00000374433 human ensembl 74_37 -1 known missense c.506 p.S169T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF32 HGNC ENSG00000169740 110 0 0 93 9 8.82353 DIP2C 0 genome.wustl.edu 37 10 445117 445117 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 445117 445117 C A SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.1192 p.A398S 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 73 0 0 67 4 5.6338 RASSF4 0 genome.wustl.edu 37 10 45480371 45480371 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 45480371 45480371 A G SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.511 p.I171V 0.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 119 0 0 130 9 6.47482 RASSF4 0 genome.wustl.edu 37 10 45480399 45480399 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 45480399 45480399 G A SNP RASSF4 ENST00000334940 human ensembl 74_37 +1 known missense c.539 p.G180D 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom - no_errors RASSF4 HGNC ENSG00000107551 107 0 0 88 18 16.9811 ENSG00000243349 0 genome.wustl.edu 37 10 45652429 45652429 + RNA SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 45652429 45652429 A T SNP ENSG00000243349 ENST00000427229 human ensembl 74_37 +1 known rna NULL NULL 0.746 - - - no_errors RP11-445N18.7 Clone_based_vega_gene ENSG00000243349 34 0 0 35 5 12.5 ZFAND4 0 genome.wustl.edu 37 10 46121968 46121968 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 46121968 46121968 A T SNP ZFAND4 ENST00000344646 human ensembl 74_37 -1 known missense c.1303 p.L435M 0.000 NULL pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors ZFAND4 HGNC ENSG00000172671 250 0 0 198 14 6.60377 DIP2C 0 genome.wustl.edu 37 10 468784 468784 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 468784 468784 A G SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.584 p.V195A 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 69 0 0 89 11 11 RBP3 0 genome.wustl.edu 37 10 48389189 48389189 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 48389189 48389189 T C SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.1689 p.T563 0.017 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 73 0 0 62 6 8.82353 GDF2 0 genome.wustl.edu 37 10 48413794 48413794 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 48413794 48413794 G A SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known silent c.1074 p.G358 0.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 67 0 0 63 17 21.25 FRMPD2 0 genome.wustl.edu 37 10 49420096 49420096 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 49420096 49420096 G A SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known silent c.1512 p.I504 0.008 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 47 0 0 32 6 15.7895 FRMPD2 0 genome.wustl.edu 37 10 49448436 49448436 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 49448436 49448436 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.667 p.A223T 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 28 0 0 40 4 9.09091 ARHGAP22 0 genome.wustl.edu 37 10 49654565 49654565 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 49654565 49654565 G A SNP ARHGAP22 ENST00000417912 human ensembl 74_37 -1 known silent c.2014 p.L672 0.991 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP22 HGNC ENSG00000128805 91 0 0 71 22 23.6559 VSTM4 0 genome.wustl.edu 37 10 50227737 50227737 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 50227737 50227737 G A SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known silent c.921 p.S307 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 68 0 0 51 9 15 ERCC6 0 genome.wustl.edu 37 10 50736484 50736484 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 50736484 50736484 C T SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known missense c.631 p.A211T 0.013 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 125 0 0 78 21 21.2121 SLC18A3 0 genome.wustl.edu 37 10 50819081 50819081 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 50819081 50819081 G C SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.295 p.A99P 0.781 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 46 0 0 54 6 10 CHAT 0 genome.wustl.edu 37 10 50833609 50833609 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 50833609 50833609 G A SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.843 p.R281 0.998 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 22 0 0 17 8 32 AGAP7 0 genome.wustl.edu 37 10 51465221 51465221 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 51465221 51465221 A G SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1235 p.V412A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 237 0 0 235 13 5.24194 AGAP6 0 genome.wustl.edu 37 10 51768714 51768714 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 51768714 51768714 G A SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.760 p.G254R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 395 0 0 396 34 7.90698 AGAP6 0 genome.wustl.edu 37 10 51769756 51769756 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 51769756 51769756 G A SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.1802 p.G601D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 121 0 0 126 15 10.6383 SGMS1 0 genome.wustl.edu 37 10 52071042 52071042 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 52071042 52071042 G A SNP SGMS1 ENST00000361781 human ensembl 74_37 -1 known missense c.875 p.T292I 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_P_Acid_Pase_2/haloperoxidase,pfscan_SAM - no_errors SGMS1 HGNC ENSG00000198964 79 0 0 38 7 15.5556 A1CF 0 genome.wustl.edu 37 10 52610496 52610496 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 52610496 52610496 T C SNP A1CF ENST00000373995 human ensembl 74_37 -1 known missense c.52 p.T18A 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 184 0 0 143 13 8.33333 PRKG1 0 genome.wustl.edu 37 10 52834553 52834553 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 52834553 52834553 T C SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known missense c.203 p.L68S 1.000 pirsf_cGMP-dependent_protein_kinase pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 20 0 0 19 4 17.3913 CSTF2T 0 genome.wustl.edu 37 10 53457790 53457790 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 53457790 53457790 C G SNP CSTF2T ENST00000331173 human ensembl 74_37 -1 known missense c.1520 p.G507A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC ENSG00000177613 40 0 0 27 3 10 TUBAL3 0 genome.wustl.edu 37 10 5435860 5435860 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 5435860 5435860 C T SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known missense c.961 p.A321T 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 81 0 0 69 5 6.75676 MBL2 0 genome.wustl.edu 37 10 54530479 54530479 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 54530479 54530479 A G SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known silent c.255 p.S85 0.919 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 129 0 0 91 27 22.8814 CALML5 0 genome.wustl.edu 37 10 5541029 5541029 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 5541029 5541029 C T SNP CALML5 ENST00000380332 human ensembl 74_37 -1 known missense c.373 p.E125K 0.783 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CALML5 HGNC ENSG00000178372 18 0 0 10 7 41.1765 PCDH15 0 genome.wustl.edu 37 10 55566537 55566537 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 55566537 55566537 A G SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known silent c.4848 p.P1616 0.120 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 307 0 0 276 32 10.3896 FAM208B 0 genome.wustl.edu 37 10 5773004 5773004 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 5773004 5773004 C T SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known nonsense c.1042 p.Q348* 0.741 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 75 0 0 63 5 7.35294 FAM208B 0 genome.wustl.edu 37 10 5798695 5798695 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 5798695 5798695 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.6726 p.L2242 0.857 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 84 0 0 52 9 14.7541 ZWINT 0 genome.wustl.edu 37 10 58117901 58117901 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 58117901 58117901 C T SNP ZWINT ENST00000460654 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZWINT HGNC ENSG00000122952 132 0 0 100 11 9.90991 ZWINT 0 genome.wustl.edu 37 10 58119836 58119836 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 58119836 58119836 G T SNP ZWINT ENST00000373944 human ensembl 74_37 -1 known missense c.199 p.L67M 0.995 NULL NULL - no_errors ZWINT HGNC ENSG00000122952 73 0 0 65 11 14.4737 BICC1 0 genome.wustl.edu 37 10 60273031 60273031 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 60273031 60273031 G T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.128 p.S43I 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 37 0 0 25 4 13.7931 BICC1 0 genome.wustl.edu 37 10 60562892 60562892 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 60562892 60562892 G A SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known missense c.2071 p.A691T 1.000 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 51 0 0 38 14 26.9231 ANK3 0 genome.wustl.edu 37 10 61828702 61828702 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 61828702 61828702 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.11937 p.S3979 0.405 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 133 0 0 93 13 12.2642 ANK3 0 genome.wustl.edu 37 10 61834285 61834285 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 61834285 61834285 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.6354 p.H2118 0.998 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 105 0 0 78 27 25.7143 RHOBTB1 0 genome.wustl.edu 37 10 62652726 62652726 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 62652726 62652726 C A SNP RHOBTB1 ENST00000337910 human ensembl 74_37 -1 known silent c.324 p.S108 0.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB1 HGNC ENSG00000072422 81 0 0 62 25 28.7356 TMEM26 0 genome.wustl.edu 37 10 63188896 63188896 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 63188896 63188896 A G SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known silent c.393 p.V131 0.009 pfam_Transmembrane_26 pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 66 0 0 49 6 10.9091 ZNF365 0 genome.wustl.edu 37 10 64415333 64415333 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 64415333 64415333 G A SNP ZNF365 ENST00000395251 human ensembl 74_37 +1 known silent c.333 p.S111 0.025 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 101 0 0 90 10 10 EGR2 0 genome.wustl.edu 37 10 64573486 64573486 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 64573486 64573486 G T SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.912 p.A304 0.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 39 0 0 37 4 9.7561 JMJD1C 0 genome.wustl.edu 37 10 64937580 64937580 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 64937580 64937580 T C SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.7121 p.D2374G 0.998 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 64 0 0 26 5 16.129 JMJD1C 0 genome.wustl.edu 37 10 64944401 64944401 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 64944401 64944401 G A SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.6928 p.P2310S 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 124 0 0 92 6 6.12245 LRRTM3 0 genome.wustl.edu 37 10 68686693 68686693 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 68686693 68686693 A G SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known missense c.19 p.R7G 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 67 0 0 56 6 9.67742 LRRTM3 0 genome.wustl.edu 37 10 68686785 68686785 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 68686785 68686785 C T SNP LRRTM3 ENST00000361320 human ensembl 74_37 +1 known silent c.111 p.G37 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM3 HGNC ENSG00000198739 76 0 0 54 23 29.8701 CTNNA3 0 genome.wustl.edu 37 10 68979622 68979622 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 68979622 68979622 T C SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known missense c.586 p.K196E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 82 0 0 56 6 9.67742 CTNNA3 0 genome.wustl.edu 37 10 69407206 69407206 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 69407206 69407206 G A SNP CTNNA3 ENST00000373744 human ensembl 74_37 -1 known silent c.66 p.T22 0.885 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 182 0 0 141 10 6.62252 DNAJC12 0 genome.wustl.edu 37 10 69583091 69583091 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 69583091 69583091 A G SNP DNAJC12 ENST00000225171 human ensembl 74_37 -1 known silent c.138 p.H46 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC12 HGNC ENSG00000108176 125 0 0 95 7 6.86275 MYPN 0 genome.wustl.edu 37 10 69948775 69948775 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 69948775 69948775 G A SNP MYPN ENST00000358913 human ensembl 74_37 +1 known silent c.2817 p.T939 0.922 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 87 0 0 55 10 15.3846 PBLD 0 genome.wustl.edu 37 10 70056653 70056653 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70056653 70056653 G A SNP PBLD ENST00000309049 human ensembl 74_37 -1 known silent c.174 p.N58 0.998 pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF pfam_Phenazine_PhzF,pirsf_Phenazine_PhzF,tigrfam_Phenazine_PhzF - no_errors PBLD HGNC ENSG00000108187 154 1 0.645161 95 8 7.76699 RUFY2 0 genome.wustl.edu 37 10 70138421 70138421 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70138421 70138421 G A SNP RUFY2 ENST00000399200 human ensembl 74_37 -1 known silent c.1110 p.N370 0.935 NULL pfam_Run - no_errors RUFY2 HGNC ENSG00000204130 65 0 0 40 4 9.09091 DNA2 0 genome.wustl.edu 37 10 70204764 70204764 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70204764 70204764 T C SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known silent c.1392 p.T464 0.538 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 106 0 0 90 9 9.09091 DNA2 0 genome.wustl.edu 37 10 70231681 70231681 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70231681 70231681 G A SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known silent c.199 p.L67 0.000 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 51 0 0 22 3 12 TET1 0 genome.wustl.edu 37 10 70404504 70404504 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70404504 70404504 A T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.2018 p.D673V 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 47 0 0 33 4 10.8108 CCAR1 0 genome.wustl.edu 37 10 70496769 70496769 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70496769 70496769 G T SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.210 p.Q70H 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 32 0 0 27 4 12.9032 CCAR1 0 genome.wustl.edu 37 10 70500386 70500386 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70500386 70500386 T C SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known silent c.292 p.L98 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 158 0 0 114 7 5.78512 STOX1 0 genome.wustl.edu 37 10 70645238 70645238 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70645238 70645238 A G SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known silent c.1686 p.E562 0.459 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 76 0 0 58 5 7.93651 EIF4EBP2 0 genome.wustl.edu 37 10 72179739 72179739 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 72179739 72179739 C T SNP EIF4EBP2 ENST00000373218 human ensembl 74_37 +1 known missense c.215 p.P72L 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP2 HGNC ENSG00000148730 119 0 0 86 5 5.49451 PALD1 0 genome.wustl.edu 37 10 72291167 72291167 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 72291167 72291167 C A SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.590 p.P197H 0.001 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 81 0 0 73 6 7.59494 SLC29A3 0 genome.wustl.edu 37 10 73082559 73082559 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 73082559 73082559 C A SNP SLC29A3 ENST00000373189 human ensembl 74_37 +1 known silent c.48 p.T16 0.996 NULL pfam_Eqnu_transpt,prints_Eqnu_transpt - no_errors SLC29A3 HGNC ENSG00000198246 207 2 0.956938 170 23 11.9171 CDH23 0 genome.wustl.edu 37 10 73326655 73326655 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 73326655 73326655 G A SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.721 p.E241K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 31 0 0 23 5 17.8571 CDH23 0 genome.wustl.edu 37 10 73377101 73377101 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 73377101 73377101 A G SNP CDH23 ENST00000461841 human ensembl 74_37 +1 known missense c.1220 p.Q407R 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 47 0 0 38 3 7.31707 CDH23 0 genome.wustl.edu 37 10 73468938 73468938 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 73468938 73468938 G A SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.3205 p.A1069T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 48 0 0 72 5 6.49351 CDH23 0 genome.wustl.edu 37 10 73537513 73537513 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 73537513 73537513 T C SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.4937 p.V1646A 0.992 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 23 0 0 32 4 11.1111 SFMBT2 0 genome.wustl.edu 37 10 7409612 7409612 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 7409612 7409612 G A SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.435 p.D145 0.858 pfam_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 33 0 0 27 14 34.1463 OIT3 0 genome.wustl.edu 37 10 74692183 74692183 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 74692183 74692183 C T SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known silent c.1539 p.C513 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 133 0 0 125 12 8.75912 MSS51 0 genome.wustl.edu 37 10 75185715 75185715 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75185715 75185715 C T SNP MSS51 ENST00000299432 human ensembl 74_37 -1 known missense c.923 p.G308D 0.869 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors MSS51 HGNC ENSG00000166343 39 0 0 46 8 14.8148 PPP3CB 0 genome.wustl.edu 37 10 75231343 75231343 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75231343 75231343 A G SNP PPP3CB ENST00000394829 human ensembl 74_37 -1 known silent c.552 p.Y184 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CB HGNC ENSG00000107758 142 0 0 93 10 9.70874 USP54 0 genome.wustl.edu 37 10 75260443 75260443 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75260443 75260443 T C SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.4465 p.T1489A 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 100 1 0.990099 126 9 6.66667 USP54 0 genome.wustl.edu 37 10 75331241 75331241 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75331241 75331241 T C SNP USP54 ENST00000339859 human ensembl 74_37 -1 known missense c.178 p.S60G 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP54 HGNC ENSG00000166348 118 0 0 93 7 7 SYNPO2L 0 genome.wustl.edu 37 10 75406539 75406539 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75406539 75406539 T A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known silent c.2871 p.R957 0.013 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 119 0 0 123 7 5.38462 CAMK2G 0 genome.wustl.edu 37 10 75576871 75576871 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75576871 75576871 T C SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.1444 p.I482V 1.000 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2G HGNC ENSG00000148660 88 0 0 89 7 7.29167 VCL 0 genome.wustl.edu 37 10 75868743 75868743 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75868743 75868743 T C SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.2574 p.L858 1.000 pfam_Vinculin/catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 92 0 0 86 11 11.3402 ITIH5 0 genome.wustl.edu 37 10 7608186 7608186 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 7608186 7608186 A G SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.2334 p.S778 0.015 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 22 0 0 31 4 11.4286 ITIH5 0 genome.wustl.edu 37 10 7618579 7618579 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 7618579 7618579 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known silent c.1815 p.A605 0.007 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 65 0 0 66 4 5.71429 ITIH5 0 genome.wustl.edu 37 10 7618800 7618800 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 7618800 7618800 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.1594 p.A532T 0.999 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 90 0 0 80 6 6.97674 ITIH5 0 genome.wustl.edu 37 10 7657973 7657973 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 7657973 7657973 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.911 p.A304V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 121 0 0 96 7 6.79612 ITIH5 0 genome.wustl.edu 37 10 7679259 7679259 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 7679259 7679259 G A SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.584 p.A195V 0.466 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 85 0 0 96 13 11.9266 KIN 0 genome.wustl.edu 37 10 7820934 7820934 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 7820934 7820934 A G SNP KIN ENST00000379562 human ensembl 74_37 -1 known missense c.425 p.I142T 1.000 pfam_DNA/RNA-bd_Kin17_cons_domain pfam_DNA/RNA-bd_Kin17_cons_domain - no_errors KIN HGNC ENSG00000151657 169 0 0 132 16 10.8108 KCNMA1 0 genome.wustl.edu 37 10 78637580 78637580 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 78637580 78637580 T C SNP KCNMA1 ENST00000404771 human ensembl 74_37 -1 putative missense c.3784 p.T1262A 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 20 0 0 16 6 27.2727 DLG5 0 genome.wustl.edu 37 10 79556266 79556266 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 79556266 79556266 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.5251 p.V1751M 0.997 superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 43 0 0 55 5 8.33333 DLG5 0 genome.wustl.edu 37 10 79569349 79569349 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 79569349 79569349 C T SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.4603 p.A1535T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 119 0 0 137 14 9.27152 POLR3A 0 genome.wustl.edu 37 10 79761991 79761991 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 79761991 79761991 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.2323 p.N775D 1.000 pfam_RNA_pol_Rpb1_4 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 18 0 0 22 4 15.3846 POLR3A 0 genome.wustl.edu 37 10 79773500 79773500 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 79773500 79773500 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.1480 p.T494A 1.000 pfam_RNA_pol_asu,smart_RNA_pol_N pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 136 0 0 117 10 7.87402 ZMIZ1 0 genome.wustl.edu 37 10 80968104 80968104 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 80968104 80968104 T A SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.72 p.N24K 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 53 0 0 59 4 6.34921 GATA3 0 genome.wustl.edu 37 10 8100631 8100631 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 8100631 8100631 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.605 p.R202H 0.994 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 73 0 0 80 5 5.88235 DYDC2 0 genome.wustl.edu 37 10 82126469 82126469 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 82126469 82126469 C T SNP DYDC2 ENST00000372198 human ensembl 74_37 +1 known missense c.338 p.T113M 0.027 NULL pfam_Dpy-30_motif - no_errors DYDC2 HGNC ENSG00000133665 216 0 0 154 11 6.66667 CDHR1 0 genome.wustl.edu 37 10 85970802 85970802 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 85970802 85970802 G T SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.1366 p.A456S 0.998 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 144 0 0 158 17 9.71429 CDHR1 0 genome.wustl.edu 37 10 85973041 85973041 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 85973041 85973041 G T SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.1977 p.K659N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 139 0 0 123 11 8.20896 GRID1 0 genome.wustl.edu 37 10 87373349 87373349 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 87373349 87373349 G A SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.2416 p.P806S 1.000 pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 63 0 0 74 7 8.64198 MMRN2 0 genome.wustl.edu 37 10 88703005 88703005 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 88703005 88703005 C T SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.1536 p.T512 0.000 superfamily_tRNA-bd_arm pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 63 0 0 40 16 28.5714 MMRN2 0 genome.wustl.edu 37 10 88703232 88703232 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 88703232 88703232 G A SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known nonsense c.1309 p.Q437* 0.901 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 69 0 0 76 5 6.17284 MMRN2 0 genome.wustl.edu 37 10 88705404 88705404 + Nonstop_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 88705404 88705404 T C SNP MMRN2 ENST00000608090 human ensembl 74_37 -1 known nonstop c.329 p.*110W 0.274 NULL NULL - no_errors MMRN2 HGNC ENSG00000173269 51 0 0 28 4 12.5 GLUD1 0 genome.wustl.edu 37 10 88817455 88817455 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 88817455 88817455 C A SNP GLUD1 ENST00000277865 human ensembl 74_37 -1 known missense c.1487 p.R496M 1.000 smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD1 HGNC ENSG00000148672 160 0 0 134 8 5.6338 MINPP1 0 genome.wustl.edu 37 10 89312069 89312069 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89312069 89312069 G A SNP MINPP1 ENST00000371996 human ensembl 74_37 +1 known missense c.1298 p.R433Q 0.810 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 137 0 0 90 8 8.16327 PAPSS2 0 genome.wustl.edu 37 10 89469058 89469058 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89469058 89469058 G A SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known missense c.133 p.V45M 0.992 pfam_APS_kinase,superfamily_P-loop_NTPase,tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 81 0 0 46 6 11.5385 PTEN 0 genome.wustl.edu 37 10 89653818 89653818 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89653818 89653818 C T SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.116 p.A39V 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 114 0 0 61 4 6.15385 PTEN 0 genome.wustl.edu 37 10 89685303 89685303 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89685303 89685303 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known silent c.198 p.K66 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 40 0 0 41 5 10.8696 PTEN 0 genome.wustl.edu 37 10 89692811 89692811 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89692811 89692811 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.295 p.E99K 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 125 0 0 91 6 6.18557 PTEN 0 genome.wustl.edu 37 10 89692895 89692895 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89692895 89692895 G A SNP PTEN ENST00000371953 human ensembl 74_37 +1 known missense c.379 p.G127R 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 138 0 0 122 7 5.42636 CH25H 0 genome.wustl.edu 37 10 90966740 90966740 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 90966740 90966740 G A SNP CH25H ENST00000371852 human ensembl 74_37 -1 known silent c.310 p.L104 1.000 NULL pfam_Fatty_acid_hydroxylase - no_errors CH25H HGNC ENSG00000138135 31 0 0 27 10 27.027 IFIT2 0 genome.wustl.edu 37 10 91066414 91066414 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 91066414 91066414 A G SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known missense c.701 p.K234R 0.000 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 102 0 0 75 14 15.7303 HTR7 0 genome.wustl.edu 37 10 92502258 92502258 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 92502258 92502258 T C SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known missense c.1421 p.K474R 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 87 0 0 50 7 12.2807 RPP30 0 genome.wustl.edu 37 10 92656116 92656116 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 92656116 92656116 T C SNP RPP30 ENST00000413330 human ensembl 74_37 +1 known missense c.664 p.S222P 0.998 pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 81 0 0 74 4 5.12821 HECTD2 0 genome.wustl.edu 37 10 93242786 93242786 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 93242786 93242786 T C SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known silent c.774 p.A258 0.998 NULL pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 95 0 0 56 4 6.66667 PPP1R3C 0 genome.wustl.edu 37 10 93390605 93390605 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 93390605 93390605 A T SNP PPP1R3C ENST00000238994 human ensembl 74_37 -1 known missense c.33 p.D11E 0.999 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 67 0 0 64 8 11.1111 TNKS2 0 genome.wustl.edu 37 10 93602099 93602099 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 93602099 93602099 A G SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known silent c.2010 p.V670 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 91 0 0 59 9 13.2353 BTAF1 0 genome.wustl.edu 37 10 93711220 93711220 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 93711220 93711220 G A SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.461 p.G154D 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 101 0 0 46 14 23.3333 BTAF1 0 genome.wustl.edu 37 10 93740222 93740222 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 93740222 93740222 T G SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known silent c.1662 p.S554 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 108 0 0 75 10 11.7647 TUBB8 0 genome.wustl.edu 37 10 94047 94047 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 94047 94047 A G SNP TUBB8 ENST00000332708 human ensembl 74_37 -1 known missense c.176 p.V59A 1.000 NULL superfamily_Tubulin_FtsZ_GTPase - no_errors TUBB8 HGNC ENSG00000173876 16 0 0 17 5 22.7273 KIF11 0 genome.wustl.edu 37 10 94373156 94373156 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 94373156 94373156 A G SNP KIF11 ENST00000260731 human ensembl 74_37 +1 known missense c.812 p.N271S 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC ENSG00000138160 48 0 0 28 9 24.3243 EXOC6 0 genome.wustl.edu 37 10 94688101 94688101 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 94688101 94688101 C T SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known silent c.942 p.D314 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 122 0 0 79 7 8.13953 CYP26C1 0 genome.wustl.edu 37 10 94822706 94822706 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 94822706 94822706 A G SNP CYP26C1 ENST00000285949 human ensembl 74_37 +1 known missense c.659 p.N220S 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP26C1 HGNC ENSG00000187553 53 0 0 52 5 8.77193 MYOF 0 genome.wustl.edu 37 10 95110997 95110997 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 95110997 95110997 A G SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.3878 p.V1293A 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 45 0 0 39 5 11.3636 MYOF 0 genome.wustl.edu 37 10 95119640 95119640 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 95119640 95119640 C A SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.3070 p.V1024F 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 150 0 0 133 15 10.1351 SLC35G1 0 genome.wustl.edu 37 10 95660549 95660549 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 95660549 95660549 A G SNP SLC35G1 ENST00000427197 human ensembl 74_37 +1 known missense c.400 p.I134V 0.002 pfam_DMT pfam_DMT - no_errors SLC35G1 HGNC ENSG00000176273 130 1 0.763359 90 8 8.16327 PIPSL 0 genome.wustl.edu 37 10 95720151 95720151 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 95720151 95720151 C T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC ENSG00000180764 75 0 0 83 11 11.7021 PIPSL 0 genome.wustl.edu 37 10 95720159 95720159 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 95720159 95720159 C T SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors PIPSL HGNC ENSG00000180764 72 0 0 78 9 10.3448 PIPSL 0 genome.wustl.edu 37 10 95721152 95721152 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 95721152 95721152 A G SNP PIPSL ENST00000480546 human ensembl 74_37 -1 putative rna NULL NULL 0.438 - - - no_errors PIPSL HGNC ENSG00000180764 84 0 0 60 12 16.6667 PLCE1 0 genome.wustl.edu 37 10 96084175 96084175 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 96084175 96084175 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.6571 p.E2191K 1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 281 0 0 171 60 25.974 NOC3L 0 genome.wustl.edu 37 10 96109949 96109949 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 96109949 96109949 A G SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known missense c.1049 p.L350S 1.000 superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3 - no_errors NOC3L HGNC ENSG00000173145 171 0 0 135 14 9.39597 HELLS 0 genome.wustl.edu 37 10 96313922 96313922 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 96313922 96313922 T C SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.193 p.Y65H 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 141 0 0 108 7 6.08696 CYP2C19 0 genome.wustl.edu 37 10 96535189 96535189 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 96535189 96535189 G A SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known missense c.374 p.R125H 0.957 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 92 0 0 101 10 9.00901 CCNJ 0 genome.wustl.edu 37 10 97817790 97817790 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 97817790 97817790 T C SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known missense c.944 p.V315A 0.994 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 203 1 0.490196 157 19 10.7955 CCNJ 0 genome.wustl.edu 37 10 97817887 97817887 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 97817887 97817887 G A SNP CCNJ ENST00000465148 human ensembl 74_37 +1 known silent c.1041 p.G347 1.000 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJ HGNC ENSG00000107443 129 0 0 122 13 9.62963 DNTT 0 genome.wustl.edu 37 10 98087280 98087280 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 98087280 98087280 C T SNP DNTT ENST00000371174 human ensembl 74_37 +1 known silent c.930 p.A310 0.000 smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 260 0 0 183 45 19.7368 TM9SF3 0 genome.wustl.edu 37 10 98303917 98303917 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 98303917 98303917 T G SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known silent c.1101 p.P367 0.985 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 83 0 0 44 10 18.5185 TM9SF3 0 genome.wustl.edu 37 10 98307727 98307727 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 98307727 98307727 T C SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known missense c.979 p.T327A 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 136 0 0 79 7 8.13953 PIK3AP1 0 genome.wustl.edu 37 10 98355389 98355389 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 98355389 98355389 G T SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known missense c.2363 p.P788H 1.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 115 1 0.862069 103 7 6.36364 LCOR 0 genome.wustl.edu 37 10 98714929 98714929 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 98714929 98714929 A T SNP LCOR ENST00000356016 human ensembl 74_37 +1 known silent c.552 p.G184 1.000 NULL pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 73 0 0 62 6 8.82353 C10orf12 0 genome.wustl.edu 37 10 98741550 98741550 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 98741550 98741550 A G SNP C10orf12 ENST00000286067 human ensembl 74_37 +1 known missense c.403 p.I135V 0.878 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 84 0 0 82 7 7.86517 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99016073 99016073 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 99016073 99016073 A G SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known splice_site c.927+2 e6+2 1.000 - - - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 250 0 0 218 13 5.62771 RRP12 0 genome.wustl.edu 37 10 99126540 99126540 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 99126540 99126540 C T SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known silent c.3174 p.E1058 0.015 NULL pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC ENSG00000052749 152 1 0.653595 126 43 25.4438 MMS19 0 genome.wustl.edu 37 10 99236709 99236709 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 99236709 99236709 G T SNP MMS19 ENST00000370782 human ensembl 74_37 -1 known missense c.505 p.L169I 1.000 superfamily_ARM-type_fold pfam_Tscrpt_C,superfamily_ARM-type_fold - no_errors MMS19 HGNC ENSG00000155229 116 0 0 105 8 7.07965 UBTD1 0 genome.wustl.edu 37 10 99327773 99327773 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 99327773 99327773 C T SNP UBTD1 ENST00000370664 human ensembl 74_37 +1 known missense c.173 p.A58V 1.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBTD1 HGNC ENSG00000165886 109 1 0.909091 98 6 5.76923 R3HCC1L 0 genome.wustl.edu 37 10 99968748 99968748 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 99968748 99968748 G A SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known missense c.877 p.A293T 0.002 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 120 0 0 94 8 7.84314 R3HCC1L 0 genome.wustl.edu 37 10 99968819 99968819 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 99968819 99968819 T C SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known silent c.948 p.S316 0.103 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 142 0 0 102 6 5.55556 TRPC6 0 genome.wustl.edu 37 11 101374854 101374854 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 101374854 101374854 A G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.846 p.S282 0.993 pfam_TRP_dom,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,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 254 0 0 188 17 8.29268 TRPC6 0 genome.wustl.edu 37 11 101375465 101375465 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 101375465 101375465 A G SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known silent c.235 p.L79 0.993 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 167 0 0 124 16 11.4286 KIAA1377 0 genome.wustl.edu 37 11 101818760 101818760 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 101818760 101818760 A G SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known splice_site c.395-2 e4-2 0.617 - - - no_errors KIAA1377 HGNC ENSG00000110318 65 0 0 49 6 10.9091 BIRC2 0 genome.wustl.edu 37 11 102248433 102248433 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 102248433 102248433 A G SNP BIRC2 ENST00000227758 human ensembl 74_37 +1 known missense c.1573 p.K525E 1.000 pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD pfam_BIR,pfam_CARD,superfamily_DEATH-like_dom,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC2 HGNC ENSG00000110330 66 0 0 36 6 14.2857 MMP20 0 genome.wustl.edu 37 11 102482514 102482514 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 102482514 102482514 C T SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known silent c.495 p.A165 0.014 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 64 0 0 55 6 9.83607 MMP20 0 genome.wustl.edu 37 11 102487565 102487565 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 102487565 102487565 T C SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known missense c.352 p.K118E 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 45 0 0 39 4 9.30233 MMP27 0 genome.wustl.edu 37 11 102567160 102567160 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 102567160 102567160 C T SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known missense c.844 p.D282N 0.060 superfamily_Hemopexin-like_dom,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 99 0 0 70 18 20.4545 MMP3 0 genome.wustl.edu 37 11 102713491 102713491 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 102713491 102713491 G A SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.262 p.R88C 0.300 pirsf_Pept_M10A_Metazoans,superfamily_Peptidoglycan-bd-like,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 44 0 0 38 5 11.6279 MUC6 0 genome.wustl.edu 37 11 1027755 1027755 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1027755 1027755 G A SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.1911 p.G637 0.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich 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 12 0 0 8 3 27.2727 DYNC2H1 0 genome.wustl.edu 37 11 102980475 102980475 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 102980475 102980475 G A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.172 p.A58T 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 40 0 0 22 5 18.5185 DYNC2H1 0 genome.wustl.edu 37 11 102985965 102985965 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 102985965 102985965 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.562 p.K188E 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 41 0 0 25 3 10.7143 DYNC2H1 0 genome.wustl.edu 37 11 103004387 103004387 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 103004387 103004387 C T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.2057 p.A686V 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 55 0 0 41 3 6.81818 DYNC2H1 0 genome.wustl.edu 37 11 103070066 103070066 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 103070066 103070066 C A SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known nonsense c.7949 p.S2650* 0.991 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 77 0 0 41 8 16.3265 DYNC2H1 0 genome.wustl.edu 37 11 103102032 103102032 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 103102032 103102032 C G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.9397 p.L3133V 0.525 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 47 0 0 29 8 21.6216 DDI1 0 genome.wustl.edu 37 11 103908242 103908242 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 103908242 103908242 T C SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.692 p.I231T 1.000 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 182 0 0 159 14 8.09249 LOC643733 0 genome.wustl.edu 37 11 104774153 104774153 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 104774153 104774153 C A SNP LOC643733 ENST00000527637 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-693N9.2 Clone_based_vega_gene ENSG00000235505 26 0 0 10 5 33.3333 CASP4 0 genome.wustl.edu 37 11 104821692 104821692 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 104821692 104821692 A G SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known missense c.506 p.L169P 0.160 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 76 0 0 47 9 16.0714 CASP5 0 genome.wustl.edu 37 11 104869751 104869751 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 104869751 104869751 T G SNP CASP5 ENST00000393141 human ensembl 74_37 -1 known missense c.996 p.K332N 0.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 96 0 0 93 7 7 GRIA4 0 genome.wustl.edu 37 11 105845262 105845262 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 105845262 105845262 A G SNP GRIA4 ENST00000393127 human ensembl 74_37 +1 known missense c.2635 p.T879A 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA4 HGNC ENSG00000152578 60 0 0 48 5 9.43396 LYVE1 0 genome.wustl.edu 37 11 10585563 10585563 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 10585563 10585563 C T SNP LYVE1 ENST00000256178 human ensembl 74_37 -1 known silent c.321 p.G107 0.998 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link - no_errors LYVE1 HGNC ENSG00000133800 63 0 0 49 4 7.54717 KBTBD3 0 genome.wustl.edu 37 11 105924271 105924271 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 105924271 105924271 T A SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known missense c.1145 p.D382V 0.995 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 61 0 0 53 5 8.62069 SLC35F2 0 genome.wustl.edu 37 11 107682454 107682454 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 107682454 107682454 T A SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known missense c.353 p.D118V 1.000 pfam_SLC35_F1/F2/F6,pfam_UAA pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 195 0 0 149 10 6.28931 CUL5 0 genome.wustl.edu 37 11 107917050 107917050 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 107917050 107917050 A G SNP CUL5 ENST00000393094 human ensembl 74_37 +1 known missense c.188 p.Q63R 1.000 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom 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 CUL5 HGNC ENSG00000166266 82 0 0 57 8 12.3077 CTR9 0 genome.wustl.edu 37 11 10800338 10800338 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 10800338 10800338 G T SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.3208 p.A1070S 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 43 0 0 48 3 5.88235 ATM 0 genome.wustl.edu 37 11 108155161 108155161 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 108155161 108155161 C A SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.3954 p.V1318 0.999 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 85 0 0 55 19 25.6757 ATM 0 genome.wustl.edu 37 11 108199851 108199851 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 108199851 108199851 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.7193 p.Y2398C 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 56 0 0 37 5 11.9048 EXPH5 0 genome.wustl.edu 37 11 108381885 108381885 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 108381885 108381885 C T SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.4349 p.S1450N 0.001 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 69 0 0 53 4 7.01754 DDX10 0 genome.wustl.edu 37 11 108547842 108547842 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 108547842 108547842 A G SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known missense c.409 p.T137A 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 101 0 0 90 10 10 MUC2 0 genome.wustl.edu 37 11 1086052 1086052 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1086052 1086052 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.2892 p.T964 0.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 39 0 0 21 9 30 MUC2 0 genome.wustl.edu 37 11 1093612 1093612 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1093612 1093612 C A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.5431 p.P1811T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 50 0 0 48 6 11.1111 ZC3H12C 0 genome.wustl.edu 37 11 110035934 110035934 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 110035934 110035934 G A SNP ZC3H12C ENST00000278590 human ensembl 74_37 +1 known silent c.2124 p.L708 0.803 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ENSG00000149289 228 0 0 166 48 22.4299 SIK2 0 genome.wustl.edu 37 11 111593434 111593434 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 111593434 111593434 T C SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known missense c.2101 p.C701R 1.000 pirsf_Ser/Thr_kinase_SIK1/2 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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 139 0 0 114 7 5.78512 FDXACB1 0 genome.wustl.edu 37 11 111745746 111745746 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 111745746 111745746 T C SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known missense c.1775 p.Y592C 1.000 pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 50 0 0 41 6 12.766 DIXDC1 0 genome.wustl.edu 37 11 111888543 111888543 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 111888543 111888543 T C SNP DIXDC1 ENST00000440460 human ensembl 74_37 +1 known silent c.1902 p.D634 1.000 pfam_DIX,smart_DIX,pfscan_DIX pfam_DIX,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_DIX,pfscan_CH-domain,pfscan_DIX - no_errors DIXDC1 HGNC ENSG00000150764 39 0 0 33 4 10.8108 BCO2 0 genome.wustl.edu 37 11 112071468 112071468 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 112071468 112071468 T C SNP BCO2 ENST00000357685 human ensembl 74_37 +1 known missense c.998 p.F333S 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCO2 HGNC ENSG00000197580 145 0 0 111 6 5.12821 NCAM1 0 genome.wustl.edu 37 11 113085138 113085138 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113085138 113085138 G A SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.934 p.E312K 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 44 0 0 48 4 7.69231 NCAM1 0 genome.wustl.edu 37 11 113105824 113105824 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113105824 113105824 C T SNP NCAM1 ENST00000316851 human ensembl 74_37 +1 known missense c.1733 p.A578V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM1 HGNC ENSG00000149294 17 0 0 13 4 23.5294 TTC12 0 genome.wustl.edu 37 11 113210045 113210045 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113210045 113210045 C T SNP TTC12 ENST00000314756 human ensembl 74_37 +1 known silent c.675 p.D225 0.309 superfamily_ARM-type_fold pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC12 HGNC ENSG00000149292 101 0 0 84 9 9.67742 DRD2 0 genome.wustl.edu 37 11 113283413 113283413 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113283413 113283413 G T SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.1009 p.P337T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 100 1 0.990099 70 8 10.2564 DRD2 0 genome.wustl.edu 37 11 113295153 113295153 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113295153 113295153 A T SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.221 p.V74D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 50 0 0 52 6 10.3448 ATF4P4 0 genome.wustl.edu 37 11 113660315 113660315 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113660315 113660315 G A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ATF4P4 HGNC ENSG00000256167 15 0 0 10 3 23.0769 USP28 0 genome.wustl.edu 37 11 113672347 113672347 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113672347 113672347 T C SNP USP28 ENST00000003302 human ensembl 74_37 -1 known silent c.2916 p.V972 0.049 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 66 0 0 53 3 5.35714 USP28 0 genome.wustl.edu 37 11 113700038 113700038 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113700038 113700038 C T SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.940 p.G314S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 85 0 0 67 5 6.94444 USP28 0 genome.wustl.edu 37 11 113700069 113700069 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113700069 113700069 T C SNP USP28 ENST00000003302 human ensembl 74_37 -1 known splice_site c.911-2 e10-2 1.000 - - - no_errors USP28 HGNC ENSG00000048028 76 0 0 55 6 9.83607 CSNK2A3 0 genome.wustl.edu 37 11 11373807 11373807 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 11373807 11373807 C T SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.860 p.S287N 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 96 0 0 65 23 26.1364 HTR3A 0 genome.wustl.edu 37 11 113857522 113857522 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 113857522 113857522 C A SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1006 p.L336I 0.003 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 87 0 0 87 6 6.45161 ZBTB16 0 genome.wustl.edu 37 11 114112918 114112918 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 114112918 114112918 T G SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.1483 p.C495G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 26 0 0 25 4 13.7931 ZBTB16 0 genome.wustl.edu 37 11 114121139 114121139 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 114121139 114121139 G T SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known silent c.1884 p.S628 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 60 0 0 53 3 5.35714 NXPE1 0 genome.wustl.edu 37 11 114392823 114392823 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 114392823 114392823 T A SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.1511 p.D504V 0.866 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 110 0 0 71 7 8.97436 NXPE1 0 genome.wustl.edu 37 11 114401086 114401086 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 114401086 114401086 T C SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.644 p.H215R 0.005 pfam_NXPH/NXPE pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 128 0 0 89 5 5.31915 NXPE1 0 genome.wustl.edu 37 11 114401399 114401399 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 114401399 114401399 T G SNP NXPE1 ENST00000424269 human ensembl 74_37 -1 known missense c.331 p.T111P 0.000 superfamily_Ig_E-set pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 95 0 0 103 6 5.50459 APOA5 0 genome.wustl.edu 37 11 116661462 116661462 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 116661462 116661462 C A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.483 p.Q161H 0.956 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 43 0 0 64 8 11.1111 APOA5 0 genome.wustl.edu 37 11 116661593 116661593 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 116661593 116661593 C T SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known missense c.352 p.V118M 0.954 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 82 0 0 77 6 7.22892 APOA1 0 genome.wustl.edu 37 11 116707117 116707117 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 116707117 116707117 G T SNP APOA1 ENST00000236850 human ensembl 74_37 -1 known missense c.211 p.L71I 0.000 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA1 HGNC ENSG00000118137 51 0 0 49 4 7.54717 SIK3 0 genome.wustl.edu 37 11 116744247 116744247 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 116744247 116744247 G A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known nonsense c.1687 p.Q563* 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 65 0 0 56 4 6.66667 SIK3 0 genome.wustl.edu 37 11 116767020 116767020 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 116767020 116767020 G A SNP SIK3 ENST00000375300 human ensembl 74_37 -1 known missense c.814 p.R272W 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 116 0 0 95 8 7.76699 PAFAH1B2 0 genome.wustl.edu 37 11 117038342 117038342 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117038342 117038342 G A SNP PAFAH1B2 ENST00000527958 human ensembl 74_37 +1 known missense c.617 p.C206Y 1.000 pfam_Lipase_GDSL pfam_Lipase_GDSL - no_errors PAFAH1B2 HGNC ENSG00000168092 66 0 0 51 5 8.92857 SIDT2 0 genome.wustl.edu 37 11 117066583 117066583 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117066583 117066583 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known silent c.2451 p.H817 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 242 0 0 170 35 17.0732 TAGLN 0 genome.wustl.edu 37 11 117074585 117074585 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117074585 117074585 C T SNP TAGLN ENST00000392951 human ensembl 74_37 +1 known missense c.446 p.P149L 1.000 superfamily_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN HGNC ENSG00000149591 58 0 0 50 3 5.66038 PCSK7 0 genome.wustl.edu 37 11 117089225 117089225 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117089225 117089225 C A SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.1491 p.K497N 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 159 0 0 137 8 5.51724 RNF214 0 genome.wustl.edu 37 11 117152804 117152804 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117152804 117152804 T C SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known silent c.1530 p.N510 0.979 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 160 0 0 186 14 7 RNF214 0 genome.wustl.edu 37 11 117155864 117155864 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117155864 117155864 A T SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known missense c.2109 p.K703N 1.000 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 112 0 0 83 11 11.7021 DSCAML1 0 genome.wustl.edu 37 11 117310647 117310647 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117310647 117310647 C T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.4048 p.A1350T 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 99 0 0 102 7 6.42202 DSCAML1 0 genome.wustl.edu 37 11 117351946 117351946 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117351946 117351946 A G SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known missense c.2779 p.C927R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 74 0 0 71 6 7.79221 DSCAML1 0 genome.wustl.edu 37 11 117376239 117376239 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117376239 117376239 G A SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.2172 p.N724 0.186 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 83 0 0 67 20 22.9885 MPZL3 0 genome.wustl.edu 37 11 118106262 118106262 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 118106262 118106262 A G SNP MPZL3 ENST00000278949 human ensembl 74_37 -1 known missense c.494 p.L165P 0.604 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL3 HGNC ENSG00000160588 97 0 0 89 6 6.31579 KMT2A 0 genome.wustl.edu 37 11 118359369 118359369 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 118359369 118359369 T C SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.4373 p.F1458S 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 105 0 0 59 7 10.6061 TMEM25 0 genome.wustl.edu 37 11 118403848 118403848 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 118403848 118403848 G A SNP TMEM25 ENST00000533102 human ensembl 74_37 +1 known missense c.599 p.R200H 1.000 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors TMEM25 HGNC ENSG00000149582 37 0 0 32 7 17.9487 PHLDB1 0 genome.wustl.edu 37 11 118498590 118498590 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 118498590 118498590 C T SNP PHLDB1 ENST00000361417 human ensembl 74_37 +1 known missense c.1051 p.R351W 0.998 NULL pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB1 HGNC ENSG00000019144 40 0 0 32 5 13.5135 HYOU1 0 genome.wustl.edu 37 11 118919507 118919507 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 118919507 118919507 A G SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.2084 p.M695T 0.994 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 73 0 0 62 7 10.1449 HYOU1 0 genome.wustl.edu 37 11 118922291 118922291 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 118922291 118922291 A G SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.1385 p.L462P 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 79 0 0 74 7 8.64198 MCAM 0 genome.wustl.edu 37 11 119185585 119185585 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 119185585 119185585 G A SNP MCAM ENST00000264036 human ensembl 74_37 -1 known missense c.358 p.R120C 0.586 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MCAM HGNC ENSG00000076706 60 0 0 54 11 16.9231 RNF26 0 genome.wustl.edu 37 11 119205959 119205959 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 119205959 119205959 G A SNP RNF26 ENST00000311413 human ensembl 74_37 +1 known missense c.127 p.V43I 1.000 NULL pfscan_Znf_RING - no_errors RNF26 HGNC ENSG00000173456 109 0 0 106 21 16.5354 MFRP 0 genome.wustl.edu 37 11 119217211 119217211 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 119217211 119217211 A G SNP MFRP ENST00000449574 human ensembl 74_37 -1 known missense c.13 p.S5P 0.955 NULL pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 96 0 0 77 7 8.33333 USP2 0 genome.wustl.edu 37 11 119243939 119243939 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 119243939 119243939 G A SNP USP2 ENST00000260187 human ensembl 74_37 -1 known silent c.252 p.D84 0.231 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 98 0 0 91 32 26.0163 USP47 0 genome.wustl.edu 37 11 11944340 11944340 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 11944340 11944340 A T SNP USP47 ENST00000399455 human ensembl 74_37 +1 known missense c.1348 p.M450L 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 55 0 0 41 3 6.81818 PVRL1 0 genome.wustl.edu 37 11 119549446 119549446 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 119549446 119549446 C T SNP PVRL1 ENST00000264025 human ensembl 74_37 -1 known missense c.109 p.D37N 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL1 HGNC ENSG00000110400 20 0 0 26 3 10.3448 POU2F3 0 genome.wustl.edu 37 11 120169101 120169101 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 120169101 120169101 T C SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known splice_site c.264+2 e4+2 0.001 - - - no_errors POU2F3 HGNC ENSG00000137709 111 0 0 116 9 7.2 ARHGEF12 0 genome.wustl.edu 37 11 120319906 120319906 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 120319906 120319906 G A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.1769 p.R590H 0.999 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 47 0 0 43 7 14 TECTA 0 genome.wustl.edu 37 11 120996433 120996433 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 120996433 120996433 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.1626 p.D542 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 147 0 0 123 14 10.219 TECTA 0 genome.wustl.edu 37 11 120998788 120998788 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 120998788 120998788 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.2102 p.G701D 1.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 44 0 0 61 10 14.0845 SORL1 0 genome.wustl.edu 37 11 121429410 121429410 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 121429410 121429410 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.2774 p.G925D 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 138 0 0 97 34 25.9542 SORL1 0 genome.wustl.edu 37 11 121454212 121454212 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 121454212 121454212 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.3626 p.G1209E 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 42 0 0 41 6 12.766 MUC5AC 0 genome.wustl.edu 37 11 1214834 1214834 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1214834 1214834 G A SNP MUC5AC ENST00000358378 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors MUC5AC HGNC ENSG00000215182 28 0 0 28 4 12.5 C11orf63 0 genome.wustl.edu 37 11 122756903 122756903 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 122756903 122756903 T C SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known splice_site c.344+2 e1+2 1.000 - - - no_errors C11orf63 HGNC ENSG00000109944 47 0 0 45 8 15.0943 C11orf63 0 genome.wustl.edu 37 11 122774952 122774952 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 122774952 122774952 T A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.664 p.S222T 0.992 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 133 0 0 108 11 9.2437 C11orf63 0 genome.wustl.edu 37 11 122774956 122774956 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 122774956 122774956 G A SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.668 p.S223N 0.006 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 132 0 0 114 11 8.8 HSPA8 0 genome.wustl.edu 37 11 122929501 122929501 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 122929501 122929501 T C SNP HSPA8 ENST00000534624 human ensembl 74_37 -1 known missense c.1361 p.N454S 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 76 0 0 67 6 8.21918 MICALCL 0 genome.wustl.edu 37 11 12315220 12315220 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 12315220 12315220 A G SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.242 p.Y81C 0.018 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 151 0 0 178 11 5.82011 MICALCL 0 genome.wustl.edu 37 11 12316135 12316135 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 12316135 12316135 C T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known missense c.1157 p.A386V 0.000 smart_ProQ/FinO pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 183 0 0 158 18 10.2273 OR8D4 0 genome.wustl.edu 37 11 123777391 123777391 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 123777391 123777391 T G SNP OR8D4 ENST00000321355 human ensembl 74_37 +1 known missense c.253 p.F85V 0.199 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D4 HGNC ENSG00000181518 328 0 0 236 20 7.8125 OR10G4 0 genome.wustl.edu 37 11 123886822 123886822 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 123886822 123886822 C T SNP OR10G4 ENST00000320891 human ensembl 74_37 +1 known missense c.541 p.P181S 0.006 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 OR10G4 HGNC ENSG00000254737 183 0 0 162 13 7.42857 OR10G8 0 genome.wustl.edu 37 11 123900356 123900356 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 123900356 123900356 G A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.27 p.A9 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 126 0 0 151 14 8.48485 VWA5A 0 genome.wustl.edu 37 11 124016061 124016061 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124016061 124016061 G A SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.2272 p.A758T 0.000 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 50 0 0 61 6 8.95522 OR8B2 0 genome.wustl.edu 37 11 124253182 124253182 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124253182 124253182 G A SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known missense c.58 p.H20Y 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 163 0 0 109 19 14.8438 OR8B8 0 genome.wustl.edu 37 11 124310559 124310559 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124310559 124310559 A G SNP OR8B8 ENST00000328064 human ensembl 74_37 -1 known silent c.423 p.C141 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 57 0 0 39 14 26.4151 OR8B8 0 genome.wustl.edu 37 11 124310909 124310909 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124310909 124310909 T A SNP OR8B8 ENST00000328064 human ensembl 74_37 -1 known missense c.73 p.I25F 0.658 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B8 HGNC ENSG00000197125 68 0 0 58 6 9.375 OR8B12 0 genome.wustl.edu 37 11 124413100 124413100 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124413100 124413100 C T SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known missense c.451 p.G151R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 89 0 0 102 11 9.73451 OR8B12 0 genome.wustl.edu 37 11 124413431 124413431 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124413431 124413431 C T SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known silent c.120 p.G40 0.833 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 76 0 0 79 13 14.1304 VSIG2 0 genome.wustl.edu 37 11 124618372 124618372 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124618372 124618372 C T SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known silent c.765 p.L255 0.629 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 64 0 0 53 9 14.5161 ESAM 0 genome.wustl.edu 37 11 124628331 124628331 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124628331 124628331 T C SNP ESAM ENST00000278927 human ensembl 74_37 -1 known missense c.163 p.T55A 0.888 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 40 0 0 36 7 16.2791 MSANTD2 0 genome.wustl.edu 37 11 124637844 124637844 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124637844 124637844 T C SNP MSANTD2 ENST00000374979 human ensembl 74_37 -1 known missense c.908 p.D303G 1.000 NULL NULL - no_errors MSANTD2 HGNC ENSG00000120458 122 0 0 80 10 11.1111 ROBO4 0 genome.wustl.edu 37 11 124766208 124766208 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124766208 124766208 C A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.565 p.G189W 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 78 0 0 103 9 8.03571 HEPACAM 0 genome.wustl.edu 37 11 124794859 124794859 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124794859 124794859 C T SNP HEPACAM ENST00000298251 human ensembl 74_37 -1 known silent c.192 p.R64 1.000 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM HGNC ENSG00000165478 60 0 0 58 5 7.93651 CCDC15 0 genome.wustl.edu 37 11 124857077 124857077 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124857077 124857077 C A SNP CCDC15 ENST00000344762 human ensembl 74_37 +1 known missense c.955 p.Q319K 0.000 NULL NULL - no_errors CCDC15 HGNC ENSG00000149548 87 0 0 72 6 7.69231 SLC37A2 0 genome.wustl.edu 37 11 124954765 124954765 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 124954765 124954765 C T SNP SLC37A2 ENST00000298280 human ensembl 74_37 +1 known missense c.1084 p.H362Y 1.000 pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A2 HGNC ENSG00000134955 28 0 0 26 3 10.3448 CHEK1 0 genome.wustl.edu 37 11 125505378 125505378 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 125505378 125505378 A G SNP CHEK1 ENST00000438015 human ensembl 74_37 +1 known missense c.668 p.E223G 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 CHEK1 HGNC ENSG00000149554 174 0 0 104 20 16.129 ACRV1 0 genome.wustl.edu 37 11 125547886 125547886 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 125547886 125547886 G A SNP ACRV1 ENST00000533904 human ensembl 74_37 -1 known missense c.359 p.S120L 0.058 NULL NULL - no_errors ACRV1 HGNC ENSG00000134940 162 0 0 155 10 6.06061 PUS3 0 genome.wustl.edu 37 11 125765945 125765945 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 125765945 125765945 A C SNP PUS3 ENST00000227474 human ensembl 74_37 -1 known missense c.235 p.F79V 1.000 pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_TruA - no_errors PUS3 HGNC ENSG00000110060 180 1 0.552486 144 9 5.88235 HYLS1 0 genome.wustl.edu 37 11 125769525 125769525 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 125769525 125769525 A C SNP HYLS1 ENST00000356438 human ensembl 74_37 +1 known silent c.262 p.R88 0.174 NULL NULL - no_errors HYLS1 HGNC ENSG00000198331 83 0 0 58 5 7.93651 FOXRED1 0 genome.wustl.edu 37 11 126146977 126146977 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 126146977 126146977 G A SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known silent c.1113 p.P371 0.234 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 49 0 0 51 9 15 MUC5B 0 genome.wustl.edu 37 11 1264269 1264269 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1264269 1264269 T C SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.6168 p.T2056 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 70 0 0 83 6 6.74157 MUC5B 0 genome.wustl.edu 37 11 1265019 1265019 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1265019 1265019 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.6918 p.S2306 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 71 0 0 58 19 24.6753 MUC5B 0 genome.wustl.edu 37 11 1265858 1265858 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1265858 1265858 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.7757 p.T2586M 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 129 0 0 106 27 20.3008 KCNJ5 0 genome.wustl.edu 37 11 128786318 128786318 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 128786318 128786318 G T SNP KCNJ5 ENST00000529694 human ensembl 74_37 +1 known missense c.952 p.A318S 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4 - no_errors KCNJ5 HGNC ENSG00000120457 77 0 0 69 6 8 ARHGAP32 0 genome.wustl.edu 37 11 128840677 128840677 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 128840677 128840677 T C SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known silent c.4389 p.Q1463 0.004 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 60 0 0 68 9 11.6883 NFRKB 0 genome.wustl.edu 37 11 129739944 129739944 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 129739944 129739944 C T SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.3051 p.Q1017 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 128 0 0 122 11 8.27068 NFRKB 0 genome.wustl.edu 37 11 129739947 129739947 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 129739947 129739947 G A SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.3048 p.T1016 0.812 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 124 0 0 121 12 9.02256 ADAMTS8 0 genome.wustl.edu 37 11 130275557 130275557 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 130275557 130275557 T A SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.2566 p.T856S 0.980 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 67 0 0 67 5 6.94444 OPCML 0 genome.wustl.edu 37 11 132812874 132812874 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 132812874 132812874 G A SNP OPCML ENST00000541867 human ensembl 74_37 -1 known silent c.114 p.F38 1.000 pfam_Ig_I-set pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 49 0 0 69 8 10.3896 IGSF9B 0 genome.wustl.edu 37 11 133790109 133790109 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 133790109 133790109 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.3511 p.Y1171H 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 64 0 0 54 5 8.47458 ARNTL 0 genome.wustl.edu 37 11 13388247 13388247 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 13388247 13388247 G A SNP ARNTL ENST00000403290 human ensembl 74_37 +1 known silent c.588 p.L196 0.998 pfam_PAS_fold,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,prints_Nuc_translocat,pfscan_PAS pfam_PAS_fold,pfam_PAS_fold_3,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors ARNTL HGNC ENSG00000133794 191 0 0 123 41 25 ACAD8 0 genome.wustl.edu 37 11 134130982 134130982 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 134130982 134130982 C A SNP ACAD8 ENST00000281182 human ensembl 74_37 +1 known missense c.750 p.D250E 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACAD8 HGNC ENSG00000151498 24 0 0 19 2 9.52381 FAR1 0 genome.wustl.edu 37 11 13729544 13729544 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 13729544 13729544 T C SNP FAR1 ENST00000354817 human ensembl 74_37 +1 known missense c.463 p.Y155H 1.000 pfam_Male_sterile_NAD-bd,pfam_Epimerase_deHydtase pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase - no_errors FAR1 HGNC ENSG00000197601 113 0 0 88 6 6.38298 COPB1 0 genome.wustl.edu 37 11 14502603 14502603 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 14502603 14502603 T C SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.998 p.D333G 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 182 0 0 138 13 8.60927 COPB1 0 genome.wustl.edu 37 11 14508019 14508019 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 14508019 14508019 C T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.731 p.R244H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 135 0 0 96 8 7.69231 PSMA1 0 genome.wustl.edu 37 11 14539484 14539484 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 14539484 14539484 T C SNP PSMA1 ENST00000418988 human ensembl 74_37 -1 known missense c.110 p.Q37R 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA1 HGNC ENSG00000129084 76 0 0 51 3 5.55556 PDE3B 0 genome.wustl.edu 37 11 14808106 14808106 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 14808106 14808106 A G SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.1153 p.S385G 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 243 0 0 219 20 8.3682 PDE3B 0 genome.wustl.edu 37 11 14856574 14856574 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 14856574 14856574 T A SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known nonsense c.2253 p.Y751* 1.000 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 109 0 0 75 7 8.53659 SOX6 0 genome.wustl.edu 37 11 15994527 15994527 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 15994527 15994527 C A SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.2315 p.S772I 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 122 0 0 131 7 5.07246 SOX6 0 genome.wustl.edu 37 11 16068172 16068172 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 16068172 16068172 C T SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.1511 p.R504Q 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 87 0 0 102 6 5.55556 PIK3C2A 0 genome.wustl.edu 37 11 17141478 17141478 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 17141478 17141478 A G SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.2701 p.Y901H 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 97 0 0 61 5 7.57576 PIK3C2A 0 genome.wustl.edu 37 11 17156512 17156512 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 17156512 17156512 A C SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known missense c.1962 p.D654E 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 190 0 0 151 12 7.36196 ABCC8 0 genome.wustl.edu 37 11 17452414 17452414 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 17452414 17452414 T C SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known silent c.1764 p.T588 0.051 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 118 0 0 112 10 8.19672 MYOD1 0 genome.wustl.edu 37 11 17741356 17741356 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 17741356 17741356 C T SNP MYOD1 ENST00000250003 human ensembl 74_37 +1 known silent c.27 p.R9 0.997 smart_Basic pfam_Basic,pfam_Myf5,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYOD1 HGNC ENSG00000129152 75 0 0 66 17 20.4819 KCNC1 0 genome.wustl.edu 37 11 17757940 17757940 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 17757940 17757940 G A SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known missense c.391 p.A131T 1.000 NULL 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 20 0 0 9 6 40 KCNC1 0 genome.wustl.edu 37 11 17793578 17793578 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 17793578 17793578 G A SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known missense c.937 p.V313I 1.000 pfam_Ion_trans_dom 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 36 0 0 32 5 13.5135 IGSF22 0 genome.wustl.edu 37 11 18743101 18743101 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 18743101 18743101 T C SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known missense c.359 p.N120S 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 IGSF22 HGNC ENSG00000179057 163 0 0 132 10 7.04225 E2F8 0 genome.wustl.edu 37 11 19259413 19259413 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 19259413 19259413 T G SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known missense c.282 p.K94N 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 214 0 0 199 21 9.54545 E2F8 0 genome.wustl.edu 37 11 19261660 19261660 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 19261660 19261660 G A SNP E2F8 ENST00000250024 human ensembl 74_37 -1 known silent c.9 p.N3 0.807 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 114 1 0.869565 78 5 6.0241 NAV2 0 genome.wustl.edu 37 11 20070671 20070671 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 20070671 20070671 G A SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.4369 p.A1457T 0.254 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 177 0 0 129 7 5.14706 NAV2 0 genome.wustl.edu 37 11 20122624 20122624 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 20122624 20122624 C G SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.6500 p.A2167G 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 116 0 0 112 14 11.1111 SLC6A5 0 genome.wustl.edu 37 11 20668428 20668428 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 20668428 20668428 C A SNP SLC6A5 ENST00000525748 human ensembl 74_37 +1 known missense c.2018 p.P673H 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 93 0 0 74 5 6.32911 IGF2 0 genome.wustl.edu 37 11 2154747 2154747 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 2154747 2154747 C T SNP IGF2 ENST00000434045 human ensembl 74_37 -1 known silent c.474 p.P158 1.000 NULL pfam_IGF2_C,pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_IGF2,prints_Insulin_family,prints_Insulin-like_growth_factor - no_errors IGF2 HGNC ENSG00000167244 23 0 0 28 6 17.6471 TH 0 genome.wustl.edu 37 11 2186545 2186545 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 2186545 2186545 C A SNP TH ENST00000381178 human ensembl 74_37 -1 known silent c.1344 p.A448 0.294 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 97 0 0 104 8 7.14286 TH 0 genome.wustl.edu 37 11 2189370 2189370 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 2189370 2189370 C T SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.620 p.C207Y 1.000 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 91 0 0 74 5 6.32911 SLC17A6 0 genome.wustl.edu 37 11 22363222 22363222 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 22363222 22363222 C A SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.235 p.L79M 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 46 0 0 46 4 8 SVIP 0 genome.wustl.edu 37 11 22844655 22844655 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 22844655 22844655 A G SNP SVIP ENST00000530199 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SVIP HGNC ENSG00000198168 51 0 0 24 4 14.2857 SLC5A12 0 genome.wustl.edu 37 11 26714070 26714070 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 26714070 26714070 G A SNP SLC5A12 ENST00000396005 human ensembl 74_37 -1 known silent c.1119 p.S373 0.184 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 SLC5A12 HGNC ENSG00000148942 78 0 0 58 10 14.7059 BBOX1 0 genome.wustl.edu 37 11 27148839 27148839 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 27148839 27148839 G T SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known splice_site c.1004-1 e7-1 1.000 - - - no_errors BBOX1 HGNC ENSG00000129151 63 0 0 56 8 12.5 LGR4 0 genome.wustl.edu 37 11 27395180 27395180 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 27395180 27395180 G T SNP LGR4 ENST00000379214 human ensembl 74_37 -1 known missense c.1297 p.L433M 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 110 0 0 86 11 11.3402 ATHL1 0 genome.wustl.edu 37 11 293611 293611 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 293611 293611 G A SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known missense c.1498 p.A500T 1.000 pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 52 0 0 67 4 5.6338 CARS 0 genome.wustl.edu 37 11 3048007 3048007 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 3048007 3048007 A G SNP CARS ENST00000380525 human ensembl 74_37 -1 known missense c.1052 p.V351A 1.000 pfam_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS HGNC ENSG00000110619 119 0 0 112 11 8.94309 DCDC1 0 genome.wustl.edu 37 11 30937073 30937073 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 30937073 30937073 T A SNP DCDC1 ENST00000339794 human ensembl 74_37 -1 known missense c.875 p.H292L 0.938 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 96 0 0 105 8 7.07965 OSBPL5 0 genome.wustl.edu 37 11 3141815 3141815 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 3141815 3141815 C T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known missense c.442 p.V148M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 56 0 0 54 15 21.7391 IFITM1 0 genome.wustl.edu 37 11 314932 314932 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 314932 314932 G A SNP IFITM1 ENST00000328221 human ensembl 74_37 +1 known missense c.197 p.R66K 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors IFITM1 HGNC ENSG00000185885 37 0 0 50 6 10.7143 WT1-AS 0 genome.wustl.edu 37 11 32460534 32460534 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 32460534 32460534 C A SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WT1-AS HGNC ENSG00000183242 74 0 0 53 16 23.1884 MRGPRE 0 genome.wustl.edu 37 11 3249355 3249355 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 3249355 3249355 G A SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known silent c.675 p.L225 0.007 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 11 0 0 8 3 27.2727 EIF3M 0 genome.wustl.edu 37 11 32610169 32610169 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 32610169 32610169 T A SNP EIF3M ENST00000531120 human ensembl 74_37 +1 known missense c.205 p.S69T 0.993 superfamily_ARM-type_fold pfam_PCI_dom,superfamily_ARM-type_fold,smart_PCI_dom - no_errors EIF3M HGNC ENSG00000149100 138 0 0 112 12 9.67742 QSER1 0 genome.wustl.edu 37 11 32954606 32954606 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 32954606 32954606 C A SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.1415 p.S472Y 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 99 0 0 95 9 8.65385 KIAA1549L 0 genome.wustl.edu 37 11 33566723 33566723 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 33566723 33566723 A G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.2311 p.R771G 0.902 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 94 0 0 102 7 6.42202 KIAA1549L 0 genome.wustl.edu 37 11 33628237 33628237 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 33628237 33628237 A G SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.4057 p.K1353E 1.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 54 0 0 42 3 6.66667 NAT10 0 genome.wustl.edu 37 11 34144031 34144031 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 34144031 34144031 A T SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known missense c.806 p.E269V 1.000 superfamily_P-loop_NTPase pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 111 0 0 107 11 9.32203 CAT 0 genome.wustl.edu 37 11 34472556 34472556 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 34472556 34472556 T A SNP CAT ENST00000241052 human ensembl 74_37 +1 known missense c.260 p.V87D 1.000 pfam_Catalase_core,superfamily_Catalase-like_dom pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase - no_errors CAT HGNC ENSG00000121691 257 1 0.387597 232 17 6.82731 APIP 0 genome.wustl.edu 37 11 34905014 34905014 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 34905014 34905014 T C SNP APIP ENST00000278359 human ensembl 74_37 -1 known missense c.550 p.T184A 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N,tigrfam_MethylthioRu-1-P_deHdtase_MtnB - no_errors APIP HGNC ENSG00000149089 122 0 0 73 23 23.9583 PAMR1 0 genome.wustl.edu 37 11 35456166 35456166 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 35456166 35456166 G A SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.1571 p.T524I 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 98 0 0 73 6 7.59494 PAMR1 0 genome.wustl.edu 37 11 35513631 35513631 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 35513631 35513631 G A SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.341 p.A114V 0.993 smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 198 0 0 172 22 11.3402 TRIM44 0 genome.wustl.edu 37 11 35747662 35747662 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 35747662 35747662 C T SNP TRIM44 ENST00000299413 human ensembl 74_37 +1 known missense c.938 p.A313V 1.000 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM44 HGNC ENSG00000166326 56 0 0 51 6 10.5263 TRAF6 0 genome.wustl.edu 37 11 36516539 36516539 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 36516539 36516539 A G SNP TRAF6 ENST00000348124 human ensembl 74_37 -1 known missense c.665 p.L222P 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF6 HGNC ENSG00000175104 152 0 0 81 6 6.89655 RAG1 0 genome.wustl.edu 37 11 36597940 36597940 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 36597940 36597940 T C SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.3086 p.L1029S 0.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 99 0 0 66 5 7.04225 NUP98 0 genome.wustl.edu 37 11 3700923 3700923 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 3700923 3700923 T C SNP NUP98 ENST00000324932 human ensembl 74_37 -1 known missense c.4934 p.E1645G 1.000 NULL pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59 - no_errors NUP98 HGNC ENSG00000110713 66 0 0 39 7 15.2174 STIM1 0 genome.wustl.edu 37 11 4112932 4112932 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4112932 4112932 T A SNP STIM1 ENST00000300737 human ensembl 74_37 +1 known silent c.1962 p.A654 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors STIM1 HGNC ENSG00000167323 64 0 0 60 7 10.4478 RRM1 0 genome.wustl.edu 37 11 4139675 4139675 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4139675 4139675 G A SNP RRM1 ENST00000300738 human ensembl 74_37 +1 known missense c.776 p.G259D 1.000 pfam_RNR_lg_C,tigrfam_NrdE_NrdA pfam_RNR_lg_C,pfam_RNR_lsu_N,pfam_ATP-cone,superfamily_RNR_R1-su_N,pfscan_ATP-cone,prints_RNR_lg_C,tigrfam_NrdE_NrdA - no_errors RRM1 HGNC ENSG00000167325 143 0 0 127 17 11.8056 TTC17 0 genome.wustl.edu 37 11 43413401 43413401 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 43413401 43413401 C T SNP TTC17 ENST00000039989 human ensembl 74_37 +1 known missense c.562 p.P188S 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC17 HGNC ENSG00000052841 156 0 0 105 13 11.0169 TRIM21 0 genome.wustl.edu 37 11 4409705 4409705 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4409705 4409705 T C SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.560 p.N187S 0.836 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,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,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 414 0 0 328 27 7.60563 ACCS 0 genome.wustl.edu 37 11 44104792 44104792 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 44104792 44104792 G T SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.1185 p.E395D 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 119 0 0 109 12 9.91736 TRIM21 0 genome.wustl.edu 37 11 4410964 4410964 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4410964 4410964 C T SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.424 p.A142T 0.146 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,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,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 164 0 0 135 36 21.0526 EXT2 0 genome.wustl.edu 37 11 44129625 44129625 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 44129625 44129625 T C SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known silent c.462 p.S154 0.778 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 88 0 0 73 4 5.19481 OR52K1 0 genome.wustl.edu 37 11 4511027 4511027 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4511027 4511027 G A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known silent c.897 p.K299 0.986 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 144 0 0 139 9 6.08108 PRDM11 0 genome.wustl.edu 37 11 45246062 45246062 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 45246062 45246062 C T SNP PRDM11 ENST00000263765 human ensembl 74_37 +1 known missense c.1139 p.A380V 0.005 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 132 0 0 123 11 8.20896 CHST1 0 genome.wustl.edu 37 11 45671505 45671505 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 45671505 45671505 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known silent c.969 p.P323 0.663 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 76 0 0 91 6 6.18557 OR52I1 0 genome.wustl.edu 37 11 4615383 4615383 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4615383 4615383 T C SNP OR52I1 ENST00000530443 human ensembl 74_37 +1 known missense c.115 p.Y39H 0.998 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I1 HGNC ENSG00000232268 148 0 0 113 7 5.83333 OR52I1 0 genome.wustl.edu 37 11 4615865 4615865 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4615865 4615865 C A SNP OR52I1 ENST00000530443 human ensembl 74_37 +1 known missense c.597 p.S199R 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I1 HGNC ENSG00000232268 240 0 0 192 12 5.88235 TRIM68 0 genome.wustl.edu 37 11 4621846 4621846 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4621846 4621846 C A SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.1118 p.G373V 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 38 0 0 23 10 30.303 AMBRA1 0 genome.wustl.edu 37 11 46419420 46419420 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 46419420 46419420 G A SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known silent c.3477 p.G1159 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 38 0 0 26 8 23.5294 MADD 0 genome.wustl.edu 37 11 47296132 47296132 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47296132 47296132 C T SNP MADD ENST00000311027 human ensembl 74_37 +1 known silent c.81 p.S27 0.831 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom 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 MADD HGNC ENSG00000110514 198 0 0 178 18 9.18367 MYBPC3 0 genome.wustl.edu 37 11 47371349 47371349 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47371349 47371349 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.630 p.H210 0.439 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 15 0 0 19 5 20.8333 PSMC3 0 genome.wustl.edu 37 11 47444219 47444219 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47444219 47444219 C A SNP PSMC3 ENST00000298852 human ensembl 74_37 -1 known missense c.790 p.G264C 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 106 1 0.934579 78 21 21.2121 RAPSN 0 genome.wustl.edu 37 11 47464237 47464237 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47464237 47464237 G A SNP RAPSN ENST00000298854 human ensembl 74_37 -1 known missense c.661 p.R221C 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Rapsyn_myristoylation/link_N,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING,prints_Postsynaptic - no_errors RAPSN HGNC ENSG00000165917 44 0 0 32 7 17.9487 CELF1 0 genome.wustl.edu 37 11 47504275 47504275 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47504275 47504275 A C SNP CELF1 ENST00000532048 human ensembl 74_37 -1 known missense c.737 p.L246R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 100 0 0 72 7 8.86076 MTCH2 0 genome.wustl.edu 37 11 47648651 47648651 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47648651 47648651 T C SNP MTCH2 ENST00000302503 human ensembl 74_37 -1 known missense c.662 p.Y221C 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH2 HGNC ENSG00000109919 72 0 0 39 3 7.14286 AGBL2 0 genome.wustl.edu 37 11 47736193 47736193 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47736193 47736193 C A SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.10 p.A4S 0.798 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 238 0 0 216 15 6.49351 FNBP4 0 genome.wustl.edu 37 11 47744588 47744588 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47744588 47744588 T A SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.2745 p.P915 0.813 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 9 0 0 8 3 27.2727 FNBP4 0 genome.wustl.edu 37 11 47754182 47754182 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47754182 47754182 T C SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known missense c.1727 p.N576S 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 63 0 0 50 5 9.09091 FNBP4 0 genome.wustl.edu 37 11 47754208 47754208 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 47754208 47754208 G A SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known silent c.1701 p.D567 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 54 0 0 35 7 16.6667 PTPRJ 0 genome.wustl.edu 37 11 48131619 48131619 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 48131619 48131619 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.106 p.A36T 0.194 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 187 0 0 122 43 26.0606 PTPRJ 0 genome.wustl.edu 37 11 48166633 48166633 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 48166633 48166633 C T SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known silent c.2868 p.S956 0.990 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 136 0 0 131 12 8.39161 PTPRJ 0 genome.wustl.edu 37 11 48185166 48185166 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 48185166 48185166 T C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.3715 p.C1239R 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 47 0 0 46 4 8 OR52R1 0 genome.wustl.edu 37 11 4825366 4825366 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4825366 4825366 G T SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known missense c.482 p.P161H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52R1 HGNC ENSG00000176937 89 0 0 58 20 25.641 OR4S1 0 genome.wustl.edu 37 11 48328111 48328111 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 48328111 48328111 C T SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.337 p.L113F 0.993 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 86 0 0 80 10 11.1111 OR4C3 0 genome.wustl.edu 37 11 48346544 48346544 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 48346544 48346544 G A SNP OR4C3 ENST00000319856 human ensembl 74_37 +1 known missense c.52 p.A18T 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC ENSG00000176547 174 0 0 120 9 6.97674 OR51S1 0 genome.wustl.edu 37 11 4870066 4870066 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4870066 4870066 C T SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known missense c.373 p.A125T 0.010 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 104 0 0 93 28 23.1405 OR51T1 0 genome.wustl.edu 37 11 4903898 4903898 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4903898 4903898 C A SNP OR51T1 ENST00000380378 human ensembl 74_37 +1 known missense c.850 p.L284M 0.033 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51T1 HGNC ENSG00000176900 110 0 0 75 7 8.53659 FOLH1 0 genome.wustl.edu 37 11 49168405 49168405 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 49168405 49168405 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.2156 p.V719A 0.103 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 140 0 0 125 7 5.30303 OR51G1 0 genome.wustl.edu 37 11 4945098 4945098 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4945098 4945098 T C SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.472 p.I158V 0.991 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 47 0 0 40 5 11.1111 OR51A2 0 genome.wustl.edu 37 11 4976522 4976522 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4976522 4976522 A T SNP OR51A2 ENST00000380371 human ensembl 74_37 -1 known missense c.422 p.V141D 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51A2 HGNC ENSG00000205496 188 0 0 139 31 18.2353 OR4C13 0 genome.wustl.edu 37 11 49974337 49974337 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 49974337 49974337 T C SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known silent c.363 p.Y121 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 127 1 0.78125 92 19 17.1171 MMP26 0 genome.wustl.edu 37 11 5009533 5009533 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5009533 5009533 T C SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.92 p.F31S 0.995 superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 149 1 0.666667 127 13 9.28571 MMP26 0 genome.wustl.edu 37 11 5013200 5013200 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5013200 5013200 A T SNP MMP26 ENST00000300762 human ensembl 74_37 +1 known missense c.602 p.N201I 0.764 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP26 HGNC ENSG00000167346 45 0 0 47 7 12.963 OR51L1 0 genome.wustl.edu 37 11 5020602 5020602 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5020602 5020602 T C SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known silent c.390 p.H130 0.056 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 OR51L1 HGNC ENSG00000176798 209 0 0 184 12 6.12245 OR4A5 0 genome.wustl.edu 37 11 51412149 51412149 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 51412149 51412149 A C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.247 p.L83V 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 74 0 0 43 6 12.2449 OR4A5 0 genome.wustl.edu 37 11 51412388 51412388 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 51412388 51412388 T C SNP OR4A5 ENST00000319760 human ensembl 74_37 -1 known missense c.8 p.Q3R 0.269 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A5 HGNC ENSG00000221840 31 0 0 23 5 17.8571 OR52A4 0 genome.wustl.edu 37 11 5142602 5142602 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5142602 5142602 C T SNP OR52A4 ENST00000481634 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors OR52A4 HGNC ENSG00000205494 85 0 0 46 14 23.3333 OR51V1 0 genome.wustl.edu 37 11 5221892 5221892 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5221892 5221892 A G SNP OR51V1 ENST00000321255 human ensembl 74_37 -1 known silent c.39 p.P13 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51V1 HGNC ENSG00000176742 94 0 0 70 8 10.2564 OR51Q1 0 genome.wustl.edu 37 11 5444364 5444364 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5444364 5444364 A G SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.934 p.K312E 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51Q1 HGNC ENSG00000167360 35 0 0 31 5 13.8889 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 148 0 0 101 22 17.8862 OR52D1 0 genome.wustl.edu 37 11 5510093 5510093 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5510093 5510093 G T SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.157 p.A53S 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52D1 HGNC ENSG00000181609 150 1 0.662252 97 24 19.8347 UBQLN3 0 genome.wustl.edu 37 11 5530154 5530154 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5530154 5530154 T C SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known missense c.635 p.N212S 1.000 superfamily_ARM-type_fold,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 143 0 0 113 9 7.37705 OR4C16 0 genome.wustl.edu 37 11 55339641 55339641 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55339641 55339641 T A SNP OR4C16 ENST00000314634 human ensembl 74_37 +1 known missense c.38 p.L13H 0.007 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 100 0 0 67 5 6.94444 OR4C6 0 genome.wustl.edu 37 11 55432731 55432731 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55432731 55432731 T G SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.89 p.L30R 0.069 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 179 0 0 144 10 6.49351 OR5D13 0 genome.wustl.edu 37 11 55541190 55541190 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55541190 55541190 A G SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.277 p.T93A 0.041 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 185 0 0 146 11 7.00637 OR5D14 0 genome.wustl.edu 37 11 55563075 55563075 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55563075 55563075 C T SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.44 p.A15V 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 155 0 0 124 12 8.82353 OR5D14 0 genome.wustl.edu 37 11 55563329 55563329 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55563329 55563329 A G SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.298 p.M100V 0.641 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 OR5D14 HGNC ENSG00000186113 79 0 0 66 4 5.71429 OR5L1 0 genome.wustl.edu 37 11 55579700 55579700 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55579700 55579700 G T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.758 p.G253V 0.054 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 121 0 0 85 6 6.59341 OR5L1 0 genome.wustl.edu 37 11 55579727 55579727 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55579727 55579727 C A SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.785 p.P262H 0.597 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 109 0 0 75 6 7.40741 OR5L1 0 genome.wustl.edu 37 11 55579836 55579836 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55579836 55579836 A T SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known missense c.894 p.K298N 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 54 0 0 43 5 10.4167 OR5D18 0 genome.wustl.edu 37 11 55587251 55587251 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55587251 55587251 T A SNP OR5D18 ENST00000333976 human ensembl 74_37 +1 known missense c.146 p.I49N 0.007 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 OR5D18 HGNC ENSG00000186119 214 0 0 138 19 12.1019 OR5I1 0 genome.wustl.edu 37 11 55703185 55703185 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55703185 55703185 C T SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.692 p.R231H 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 28 0 0 10 3 23.0769 OR5I1 0 genome.wustl.edu 37 11 55703617 55703617 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55703617 55703617 A G SNP OR5I1 ENST00000301532 human ensembl 74_37 -1 known missense c.260 p.F87S 0.028 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 55 0 0 31 5 13.8889 OR5F1 0 genome.wustl.edu 37 11 55761391 55761391 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55761391 55761391 A C SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known silent c.711 p.A237 0.133 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 OR5F1 HGNC ENSG00000149133 88 0 0 66 12 15.3846 OR5AS1 0 genome.wustl.edu 37 11 55798599 55798599 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55798599 55798599 C G SNP OR5AS1 ENST00000313555 human ensembl 74_37 +1 known missense c.705 p.S235R 0.251 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AS1 HGNC ENSG00000181785 185 1 0.537634 143 17 10.625 OR8H3 0 genome.wustl.edu 37 11 55890557 55890557 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55890557 55890557 G A SNP OR8H3 ENST00000313472 human ensembl 74_37 +1 known missense c.709 p.A237T 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC ENSG00000181761 122 0 0 89 8 8.24742 OR52B6 0 genome.wustl.edu 37 11 5602389 5602389 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5602389 5602389 A G SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.283 p.T95A 0.583 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 154 1 0.645161 146 15 9.31677 OR52B6 0 genome.wustl.edu 37 11 5602413 5602413 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5602413 5602413 G A SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.307 p.A103T 0.214 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 OR52B6 HGNC ENSG00000187747 125 0 0 126 13 9.35252 OR8H1 0 genome.wustl.edu 37 11 56057653 56057653 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56057653 56057653 C T SNP OR8H1 ENST00000313022 human ensembl 74_37 -1 known missense c.886 p.V296I 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H1 HGNC ENSG00000181693 208 0 0 137 16 10.4575 OR8K3 0 genome.wustl.edu 37 11 56085879 56085879 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56085879 56085879 A G SNP OR8K3 ENST00000312711 human ensembl 74_37 +1 known missense c.97 p.M33V 0.561 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8K3 HGNC ENSG00000181689 208 0 0 134 16 10.6667 OR5AP2 0 genome.wustl.edu 37 11 56409175 56409175 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56409175 56409175 A G SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known silent c.744 p.C248 1.000 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 OR5AP2 HGNC ENSG00000172464 127 0 0 94 26 21.6667 OR9G1 0 genome.wustl.edu 37 11 56467959 56467959 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56467959 56467959 C T SNP OR9G1 ENST00000312153 human ensembl 74_37 +1 known silent c.96 p.G32 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G1 HGNC ENSG00000174914 108 0 0 93 8 7.92079 OR9G4 0 genome.wustl.edu 37 11 56510828 56510828 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56510828 56510828 C T SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known missense c.460 p.A154T 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 OR9G4 HGNC ENSG00000172457 159 0 0 127 29 18.5897 LRRC55 0 genome.wustl.edu 37 11 56949930 56949930 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56949930 56949930 G A SNP LRRC55 ENST00000497933 human ensembl 74_37 +1 known missense c.563 p.S188N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 43 0 0 40 4 9.09091 LRRC55 0 genome.wustl.edu 37 11 56954725 56954725 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56954725 56954725 A G SNP LRRC55 ENST00000497933 human ensembl 74_37 +1 known missense c.797 p.Q266R 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC55 HGNC ENSG00000183908 99 0 0 82 5 5.74713 TRIM5 0 genome.wustl.edu 37 11 5700312 5700312 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5700312 5700312 A G SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known missense c.505 p.S169P 0.003 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 142 0 0 118 14 10.6061 APLNR 0 genome.wustl.edu 37 11 57003818 57003818 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 57003818 57003818 A G SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.661 p.Y221H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 56 0 0 58 6 9.375 TNKS1BP1 0 genome.wustl.edu 37 11 57068388 57068388 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 57068388 57068388 G A SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known missense c.5099 p.T1700M 0.001 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 131 0 0 134 10 6.94444 TNKS1BP1 0 genome.wustl.edu 37 11 57076651 57076651 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 57076651 57076651 A G SNP TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known silent c.3534 p.S1178 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 77 0 0 63 7 10 ZDHHC5 0 genome.wustl.edu 37 11 57440666 57440666 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 57440666 57440666 C T SNP ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known missense c.104 p.T35M 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 77 0 0 40 17 29.8246 CTNND1 0 genome.wustl.edu 37 11 57575947 57575947 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 57575947 57575947 T C SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2177 p.V726A 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 128 1 0.775194 99 6 5.71429 OR10Q1 0 genome.wustl.edu 37 11 57996067 57996067 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 57996067 57996067 T C SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known missense c.281 p.K94R 0.152 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 46 0 0 47 7 12.963 OR5B2 0 genome.wustl.edu 37 11 58190409 58190409 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58190409 58190409 T C SNP OR5B2 ENST00000302581 human ensembl 74_37 -1 known missense c.326 p.E109G 0.026 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 OR5B2 HGNC ENSG00000172365 103 0 0 103 9 8.03571 PHRF1 0 genome.wustl.edu 37 11 582040 582040 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 582040 582040 A G SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.173 p.D58G 0.109 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 11 0 0 15 5 25 OR5B12 0 genome.wustl.edu 37 11 58207236 58207236 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58207236 58207236 T C SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.389 p.Y130C 0.995 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5B12 HGNC ENSG00000172362 157 0 0 126 9 6.66667 OR5B21 0 genome.wustl.edu 37 11 58275329 58275329 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58275329 58275329 G A SNP OR5B21 ENST00000360374 human ensembl 74_37 -1 known missense c.250 p.R84W 0.155 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5B21 HGNC ENSG00000198283 42 0 0 34 7 17.0732 GLYAT 0 genome.wustl.edu 37 11 58478068 58478068 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58478068 58478068 C A SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known missense c.483 p.K161N 0.034 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 167 0 0 115 10 8 GLYAT 0 genome.wustl.edu 37 11 58478159 58478159 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58478159 58478159 C T SNP GLYAT ENST00000344743 human ensembl 74_37 -1 known missense c.392 p.R131H 0.000 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 163 0 0 118 8 6.34921 OR52E6 0 genome.wustl.edu 37 11 5863013 5863013 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5863013 5863013 T A SNP OR52E6 ENST00000379946 human ensembl 74_37 -1 known missense c.127 p.I43F 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E6 HGNC ENSG00000205409 116 0 0 84 10 10.6383 DTX4 0 genome.wustl.edu 37 11 58949402 58949402 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58949402 58949402 A G SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known silent c.402 p.V134 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 112 0 0 94 11 10.4762 MPEG1 0 genome.wustl.edu 37 11 58978613 58978613 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58978613 58978613 A G SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.1726 p.Y576H 1.000 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 141 0 0 117 8 6.4 MPEG1 0 genome.wustl.edu 37 11 58979219 58979219 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58979219 58979219 T C SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known missense c.1120 p.T374A 0.987 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 140 0 0 98 31 24.031 OR52E4 0 genome.wustl.edu 37 11 5905954 5905954 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5905954 5905954 T C SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known silent c.432 p.S144 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 170 0 0 132 9 6.38298 PHRF1 0 genome.wustl.edu 37 11 592628 592628 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 592628 592628 A G SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.574 p.S192G 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 156 0 0 141 10 6.62252 OR4D11 0 genome.wustl.edu 37 11 59271510 59271510 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 59271510 59271510 C T SNP OR4D11 ENST00000313253 human ensembl 74_37 +1 known silent c.462 p.V154 0.667 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D11 HGNC ENSG00000176200 203 0 0 154 22 12.5 PLAC1L 0 genome.wustl.edu 37 11 59814517 59814517 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 59814517 59814517 T C SNP PLAC1L ENST00000278855 human ensembl 74_37 +1 known silent c.448 p.L150 0.955 NULL NULL - no_errors PLAC1L HGNC ENSG00000149507 118 0 0 78 6 7.14286 PHRF1 0 genome.wustl.edu 37 11 598394 598394 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 598394 598394 T A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known missense c.916 p.S306T 0.970 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 32 0 0 31 3 8.82353 OR52L1 0 genome.wustl.edu 37 11 6007329 6007329 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6007329 6007329 G T SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known missense c.832 p.L278I 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 59 0 0 51 5 8.92857 MS4A14 0 genome.wustl.edu 37 11 60183917 60183917 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60183917 60183917 C A SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known silent c.1476 p.T492 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 120 0 0 109 10 8.40336 MS4A12 0 genome.wustl.edu 37 11 60264792 60264792 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60264792 60264792 A C SNP MS4A12 ENST00000016913 human ensembl 74_37 +1 known missense c.1 p.M1L 0.000 NULL pfam_CD20-like - no_errors MS4A12 HGNC ENSG00000071203 105 0 0 85 5 5.55556 MS4A13 0 genome.wustl.edu 37 11 60285576 60285576 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60285576 60285576 T C SNP MS4A13 ENST00000378186 human ensembl 74_37 +1 known missense c.20 p.I7T 0.002 pfam_CD20-like pfam_CD20-like - no_errors MS4A13 HGNC ENSG00000204979 79 0 0 59 4 6.34921 OR56A1 0 genome.wustl.edu 37 11 6048082 6048082 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6048082 6048082 C T SNP OR56A1 ENST00000316650 human ensembl 74_37 -1 known missense c.853 p.V285I 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A1 HGNC ENSG00000180934 134 1 0.740741 120 15 11.1111 CCDC86 0 genome.wustl.edu 37 11 60609969 60609969 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60609969 60609969 A G SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known silent c.372 p.A124 0.000 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 78 0 0 71 8 10.1266 CCDC86 0 genome.wustl.edu 37 11 60615443 60615443 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60615443 60615443 C T SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known missense c.805 p.R269W 1.000 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 110 0 0 95 13 12.037 CCDC86 0 genome.wustl.edu 37 11 60615518 60615518 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60615518 60615518 C A SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known missense c.880 p.R294S 0.785 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 76 0 0 50 5 9.09091 CCDC86 0 genome.wustl.edu 37 11 60617771 60617771 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60617771 60617771 G A SNP CCDC86 ENST00000227520 human ensembl 74_37 +1 known silent c.1056 p.P352 0.305 NULL NULL - no_errors CCDC86 HGNC ENSG00000110104 53 0 0 54 8 12.9032 ZP1 0 genome.wustl.edu 37 11 60637016 60637016 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60637016 60637016 C T SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known missense c.325 p.R109C 0.003 NULL pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 34 0 0 39 8 17.0213 ZP1 0 genome.wustl.edu 37 11 60637914 60637914 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60637914 60637914 C T SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known silent c.792 p.N264 0.014 superfamily_P_trefoil,smart_P_trefoil pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 77 0 0 73 6 7.59494 ZP1 0 genome.wustl.edu 37 11 60642608 60642608 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60642608 60642608 G A SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known missense c.1661 p.R554Q 0.000 NULL pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 94 0 0 79 7 8.13953 TMEM109 0 genome.wustl.edu 37 11 60689443 60689443 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60689443 60689443 C T SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known missense c.538 p.P180S 1.000 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 86 0 0 75 9 10.7143 TMEM132A 0 genome.wustl.edu 37 11 60704348 60704348 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60704348 60704348 A G SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.3044 p.N1015S 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 46 0 0 41 3 6.81818 CD6 0 genome.wustl.edu 37 11 60783197 60783197 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 60783197 60783197 C A SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.1400 p.P467H 0.910 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 83 0 0 89 13 12.7451 DDB1 0 genome.wustl.edu 37 11 61079550 61079550 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61079550 61079550 C T SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.2076 p.A692 0.068 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 106 0 0 93 10 9.70874 DDB1 0 genome.wustl.edu 37 11 61081422 61081422 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61081422 61081422 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known silent c.1773 p.I591 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 85 0 0 54 4 6.89655 DAK 0 genome.wustl.edu 37 11 61113377 61113377 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61113377 61113377 C A SNP DAK ENST00000394900 human ensembl 74_37 +1 known missense c.1534 p.P512T 0.991 pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP - no_errors DAK HGNC ENSG00000149476 77 0 0 90 5 5.26316 PPP1R32 0 genome.wustl.edu 37 11 61257286 61257286 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61257286 61257286 A T SNP PPP1R32 ENST00000338608 human ensembl 74_37 +1 known missense c.1076 p.Q359L 1.000 NULL NULL - no_errors PPP1R32 HGNC ENSG00000162148 41 0 0 39 4 9.30233 SYT7 0 genome.wustl.edu 37 11 61300478 61300478 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61300478 61300478 T C SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known missense c.334 p.T112A 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 69 0 0 81 5 5.81395 MYRF 0 genome.wustl.edu 37 11 61533179 61533179 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61533179 61533179 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known silent c.129 p.S43 0.870 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 10 0 0 11 4 26.6667 MYRF 0 genome.wustl.edu 37 11 61544824 61544824 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61544824 61544824 T C SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.1679 p.V560A 0.998 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 54 0 0 54 3 5.26316 FADS2 0 genome.wustl.edu 37 11 61615659 61615659 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61615659 61615659 G A SNP FADS2 ENST00000278840 human ensembl 74_37 +1 known missense c.647 p.R216H 1.000 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors FADS2 HGNC ENSG00000134824 53 0 0 49 8 14.0351 FTH1 0 genome.wustl.edu 37 11 61732893 61732893 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61732893 61732893 A G SNP FTH1 ENST00000273550 human ensembl 74_37 -1 known missense c.209 p.L70P 1.000 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTH1 HGNC ENSG00000167996 254 0 0 214 23 9.70464 SCGB1D1 0 genome.wustl.edu 37 11 61959627 61959627 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 61959627 61959627 C T SNP SCGB1D1 ENST00000306238 human ensembl 74_37 +1 known missense c.155 p.P52L 0.033 pfam_Secretoglobin,superfamily_Secretoglobin pfam_Secretoglobin,superfamily_Secretoglobin - no_errors SCGB1D1 HGNC ENSG00000168515 83 0 0 72 8 10 AHNAK 0 genome.wustl.edu 37 11 62301413 62301413 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62301413 62301413 G A SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.476 p.A159V 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 109 0 0 108 14 11.4754 EEF1G 0 genome.wustl.edu 37 11 62338549 62338549 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62338549 62338549 C T SNP EEF1G ENST00000378019 human ensembl 74_37 -1 known missense c.560 p.R187Q 0.998 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 96 0 0 101 11 9.82143 GANAB 0 genome.wustl.edu 37 11 62394111 62394111 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62394111 62394111 G A SNP GANAB ENST00000346178 human ensembl 74_37 -1 known nonsense c.2509 p.R837* 1.000 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 22 0 0 19 3 13.6364 FAM160A2 0 genome.wustl.edu 37 11 6239971 6239971 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6239971 6239971 C T SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1294 p.V432I 1.000 NULL pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 144 0 0 102 28 21.5385 INTS5 0 genome.wustl.edu 37 11 62416356 62416356 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62416356 62416356 G T SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known missense c.1196 p.S399Y 0.996 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 36 0 0 44 4 8.33333 FAM160A2 0 genome.wustl.edu 37 11 6243821 6243821 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6243821 6243821 T A SNP FAM160A2 ENST00000265978 human ensembl 74_37 -1 known missense c.1042 p.I348F 1.000 pfam_RetinoicA-induced_16-like pfam_RetinoicA-induced_16-like - no_errors FAM160A2 HGNC ENSG00000051009 49 0 0 45 6 11.7647 CDHR5 0 genome.wustl.edu 37 11 624878 624878 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 624878 624878 G A SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known missense c.25 p.P9S 0.025 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 10 0 0 11 3 21.4286 ZBTB3 0 genome.wustl.edu 37 11 62520498 62520498 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62520498 62520498 T A SNP ZBTB3 ENST00000394807 human ensembl 74_37 -1 known silent c.789 p.P263 0.168 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 28 0 0 25 6 19.3548 NXF1 0 genome.wustl.edu 37 11 62569076 62569076 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62569076 62569076 A G SNP NXF1 ENST00000294172 human ensembl 74_37 -1 known missense c.667 p.S223P 1.000 NULL pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors NXF1 HGNC ENSG00000162231 141 0 0 141 15 9.61538 WDR74 0 genome.wustl.edu 37 11 62600597 62600597 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62600597 62600597 G T SNP WDR74 ENST00000278856 human ensembl 74_37 -1 known missense c.985 p.P329T 0.998 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR74 HGNC ENSG00000133316 27 0 0 37 5 11.9048 SNHG1 0 genome.wustl.edu 37 11 62622655 62622655 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62622655 62622655 T C SNP SNHG1 ENST00000537068 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors SNHG1 HGNC ENSG00000255717 39 0 0 37 3 7.5 CHRM1 0 genome.wustl.edu 37 11 62677758 62677758 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62677758 62677758 T G SNP CHRM1 ENST00000306960 human ensembl 74_37 -1 known missense c.815 p.Y272S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M1_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM1 HGNC ENSG00000168539 141 0 0 103 18 14.876 CCKBR 0 genome.wustl.edu 37 11 6292256 6292256 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6292256 6292256 A G SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.1034 p.N345S 0.649 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 65 0 0 86 6 6.52174 RTN3 0 genome.wustl.edu 37 11 63472327 63472327 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 63472327 63472327 C A SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known silent c.147 p.S49 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 171 0 0 124 16 11.4286 RTN3 0 genome.wustl.edu 37 11 63488173 63488173 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 63488173 63488173 A G SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known silent c.2199 p.V733 0.003 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 57 0 0 44 4 8.33333 RCOR2 0 genome.wustl.edu 37 11 63681532 63681532 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 63681532 63681532 C T SNP RCOR2 ENST00000301459 human ensembl 74_37 -1 known missense c.785 p.G262D 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 114 0 0 122 17 12.2302 STIP1 0 genome.wustl.edu 37 11 63970965 63970965 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 63970965 63970965 A G SNP STIP1 ENST00000305218 human ensembl 74_37 +1 known missense c.1430 p.N477S 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STIP1 HGNC ENSG00000168439 30 0 0 27 4 12.9032 PLCB3 0 genome.wustl.edu 37 11 64026012 64026012 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64026012 64026012 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known silent c.1080 p.C360 0.996 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 80 0 0 69 8 10.3896 PLCB3 0 genome.wustl.edu 37 11 64031258 64031258 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64031258 64031258 G A SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.2551 p.D851N 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 77 0 0 68 19 21.8391 PLCB3 0 genome.wustl.edu 37 11 64032685 64032685 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64032685 64032685 C T SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.2828 p.A943V 0.997 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 12 0 0 11 3 21.4286 BAD 0 genome.wustl.edu 37 11 64037796 64037796 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64037796 64037796 C T SNP BAD ENST00000309032 human ensembl 74_37 -1 known missense c.392 p.R131H 1.000 pfam_Bcl-2_BAD pfam_Bcl-2_BAD - no_errors BAD HGNC ENSG00000002330 60 0 0 66 7 9.58904 SLC22A12 0 genome.wustl.edu 37 11 64367342 64367342 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64367342 64367342 C T SNP SLC22A12 ENST00000377574 human ensembl 74_37 +1 known missense c.1265 p.A422V 1.000 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A12 HGNC ENSG00000197891 36 0 0 29 10 25.641 NRXN2 0 genome.wustl.edu 37 11 64453147 64453147 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64453147 64453147 C T SNP NRXN2 ENST00000265459 human ensembl 74_37 -1 known missense c.1123 p.D375N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 102 0 0 70 18 20.4545 RASGRP2 0 genome.wustl.edu 37 11 64508434 64508434 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64508434 64508434 G A SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known silent c.357 p.I119 0.844 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 42 0 0 39 8 17.0213 SF1 0 genome.wustl.edu 37 11 64540944 64540944 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64540944 64540944 A G SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.194 p.L65P 1.000 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 60 0 0 42 5 10.6383 MAP4K2 0 genome.wustl.edu 37 11 64559444 64559444 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64559444 64559444 G A SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.2029 p.R677C 0.650 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 15 0 0 9 3 25 MAP4K2 0 genome.wustl.edu 37 11 64566297 64566297 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64566297 64566297 A G SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known missense c.1066 p.W356R 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 186 1 0.534759 211 12 5.38117 BATF2 0 genome.wustl.edu 37 11 64757142 64757142 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64757142 64757142 C A SNP BATF2 ENST00000301887 human ensembl 74_37 -1 known missense c.284 p.G95V 0.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors BATF2 HGNC ENSG00000168062 29 0 0 27 2 6.89655 TRIM3 0 genome.wustl.edu 37 11 6486843 6486843 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6486843 6486843 C T SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known missense c.83 p.R28Q 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 76 0 0 94 5 5.05051 ZNHIT2 0 genome.wustl.edu 37 11 64884013 64884013 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64884013 64884013 T C SNP ZNHIT2 ENST00000310597 human ensembl 74_37 -1 known silent c.1113 p.V371 0.000 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT2 HGNC ENSG00000174276 66 0 0 89 8 8.24742 SPDYC 0 genome.wustl.edu 37 11 64939752 64939752 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64939752 64939752 C T SNP SPDYC ENST00000377185 human ensembl 74_37 +1 known silent c.294 p.R98 0.028 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYC HGNC ENSG00000204710 89 0 0 78 24 23.5294 POLA2 0 genome.wustl.edu 37 11 65049201 65049201 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65049201 65049201 G A SNP POLA2 ENST00000265465 human ensembl 74_37 +1 known missense c.961 p.E321K 1.000 pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC ENSG00000014138 86 0 0 57 19 25 FRMD8 0 genome.wustl.edu 37 11 65178714 65178714 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65178714 65178714 C T SNP FRMD8 ENST00000317568 human ensembl 74_37 +1 known silent c.1278 p.G426 0.921 NULL pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD8 HGNC ENSG00000126391 40 0 0 39 5 11.3636 PCNXL3 0 genome.wustl.edu 37 11 65393441 65393441 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65393441 65393441 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.3295 p.P1099S 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 35 0 0 32 7 17.9487 PCNXL3 0 genome.wustl.edu 37 11 65403965 65403965 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65403965 65403965 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known silent c.5697 p.P1899 0.997 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 24 0 0 29 11 27.5 CTSW 0 genome.wustl.edu 37 11 65650817 65650817 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65650817 65650817 G A SNP CTSW ENST00000307886 human ensembl 74_37 +1 known silent c.942 p.S314 0.000 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 CTSW HGNC ENSG00000172543 72 0 0 86 6 6.52174 DRAP1 0 genome.wustl.edu 37 11 65688892 65688892 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65688892 65688892 G T SNP DRAP1 ENST00000312515 human ensembl 74_37 +1 known missense c.604 p.D202Y 1.000 NULL pfam_CBFA_NFYB_domain,pfam_Histone_core_D,superfamily_Histone-fold - no_errors DRAP1 HGNC ENSG00000175550 78 0 0 90 6 6.25 EIF1AD 0 genome.wustl.edu 37 11 65767122 65767122 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65767122 65767122 A G SNP EIF1AD ENST00000312234 human ensembl 74_37 -1 known missense c.221 p.I74T 1.000 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1 pfam_RNA-binding_domain_S1_IF1,superfamily_NA-bd_OB-fold,smart_TIF_eIF-1A,pfscan_RNA-binding_domain_S1_IF1 - no_errors EIF1AD HGNC ENSG00000175376 70 0 0 59 6 9.23077 BANF1 0 genome.wustl.edu 37 11 65771097 65771097 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65771097 65771097 G A SNP BANF1 ENST00000312175 human ensembl 74_37 +1 known missense c.124 p.A42T 1.000 pfam_BAF_prot,superfamily_BAF_prot pfam_BAF_prot,superfamily_BAF_prot - no_errors BANF1 HGNC ENSG00000175334 102 0 0 85 8 8.60215 YIF1A 0 genome.wustl.edu 37 11 66052412 66052412 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66052412 66052412 G A SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known silent c.667 p.L223 0.999 pfam_Hrf1,pfam_Yip1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 54 0 0 46 5 9.80392 BRMS1 0 genome.wustl.edu 37 11 66106244 66106244 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66106244 66106244 A C SNP BRMS1 ENST00000425825 human ensembl 74_37 -1 known missense c.641 p.V214G 1.000 pfam_Sds3 pfam_Sds3 - no_errors BRMS1 HGNC ENSG00000174744 67 0 0 47 4 7.84314 NPAS4 0 genome.wustl.edu 37 11 66190621 66190621 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66190621 66190621 C T SNP NPAS4 ENST00000311034 human ensembl 74_37 +1 known silent c.726 p.R242 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 26 0 0 21 3 12.5 BBS1 0 genome.wustl.edu 37 11 66288771 66288771 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66288771 66288771 G T SNP BBS1 ENST00000419755 human ensembl 74_37 +1 known nonsense c.865 p.E289* 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam - no_errors CTD-3074O7.11 Clone_based_vega_gene ENSG00000256349 94 0 0 93 7 7 CCDC87 0 genome.wustl.edu 37 11 66357969 66357969 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66357969 66357969 T A SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known missense c.2518 p.T840S 0.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 142 0 0 129 16 11.0345 TPP1 0 genome.wustl.edu 37 11 6638383 6638383 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6638383 6638383 C T SNP TPP1 ENST00000299427 human ensembl 74_37 -1 known silent c.510 p.V170 1.000 pfam_Peptidase_S53_propep,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep pfam_Peptidase_S53_propep,pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,superfamily_Prot_inh_propept,smart_Peptidase_S53_propep - no_errors TPP1 HGNC ENSG00000166340 60 0 0 56 6 9.67742 RBM14 0 genome.wustl.edu 37 11 66393066 66393066 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66393066 66393066 G A SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known silent c.1719 p.P573 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 19 0 0 24 3 11.1111 RBM4 0 genome.wustl.edu 37 11 66411054 66411054 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66411054 66411054 C A SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known silent c.546 p.R182 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 67 0 0 38 6 13.6364 RBM4B 0 genome.wustl.edu 37 11 66444271 66444271 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66444271 66444271 G T SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known missense c.280 p.L94I 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 287 0 0 251 17 6.34328 SPTBN2 0 genome.wustl.edu 37 11 66453564 66453564 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66453564 66453564 G A SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.6951 p.S2317 1.000 pirsf_Spectrin_bsu,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_Pleckstrin_homology pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 21 0 0 18 6 25 SPTBN2 0 genome.wustl.edu 37 11 66476409 66476409 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66476409 66476409 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known silent c.1155 p.T385 0.848 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 95 0 0 82 8 8.88889 C11orf80 0 genome.wustl.edu 37 11 66555668 66555668 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66555668 66555668 G A SNP C11orf80 ENST00000360962 human ensembl 74_37 +1 known silent c.561 p.L187 0.848 NULL NULL - no_errors C11orf80 HGNC ENSG00000173715 97 0 0 85 9 9.57447 RCE1 0 genome.wustl.edu 37 11 66613379 66613379 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66613379 66613379 G T SNP RCE1 ENST00000309657 human ensembl 74_37 +1 known missense c.803 p.G268V 1.000 pfam_CAAX_protease pfam_CAAX_protease - no_errors RCE1 HGNC ENSG00000173653 107 0 0 105 8 7.07965 DCHS1 0 genome.wustl.edu 37 11 6661560 6661560 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6661560 6661560 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.1285 p.R429W 0.844 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 15 0 0 9 5 35.7143 PC 0 genome.wustl.edu 37 11 66617874 66617874 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 66617874 66617874 G A SNP PC ENST00000393958 human ensembl 74_37 -1 known silent c.2535 p.Y845 0.996 pirsf_Pyruv_COase,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 56 0 0 63 15 19.2308 KDM2A 0 genome.wustl.edu 37 11 67017889 67017889 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 67017889 67017889 A T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known silent c.2388 p.G796 0.966 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2A HGNC ENSG00000173120 55 0 0 58 6 9.375 RPS6KB2 0 genome.wustl.edu 37 11 67201901 67201901 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 67201901 67201901 G A SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known silent c.1101 p.P367 0.010 pfam_Pkinase_C,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase 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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 33 0 0 26 7 21.2121 PITPNM1 0 genome.wustl.edu 37 11 67270088 67270088 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 67270088 67270088 G A SNP PITPNM1 ENST00000356404 human ensembl 74_37 -1 known silent c.180 p.H60 1.000 pfam_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM1 HGNC ENSG00000110697 79 0 0 75 17 18.4783 CABP2 0 genome.wustl.edu 37 11 67287411 67287411 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 67287411 67287411 A G SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known missense c.490 p.F164L 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP2 HGNC ENSG00000167791 13 0 0 25 4 13.7931 ALDH3B2 0 genome.wustl.edu 37 11 67432984 67432984 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 67432984 67432984 C T SNP ALDH3B2 ENST00000349015 human ensembl 74_37 -1 known missense c.478 p.G160S 0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH3B2 HGNC ENSG00000132746 124 0 0 132 12 8.33333 NDUFS8 0 genome.wustl.edu 37 11 67799623 67799623 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 67799623 67799623 G A SNP NDUFS8 ENST00000313468 human ensembl 74_37 +1 known missense c.5 p.R2H 0.200 NULL pfam_4Fe4S-bd_dom,tigrfam_NADH_quinone_OxRdtase_chainI - no_errors NDUFS8 HGNC ENSG00000110717 107 0 0 82 36 30.5085 NDUFS8 0 genome.wustl.edu 37 11 67804031 67804031 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 67804031 67804031 A G SNP NDUFS8 ENST00000313468 human ensembl 74_37 +1 known missense c.604 p.N202D 1.000 NULL pfam_4Fe4S-bd_dom,tigrfam_NADH_quinone_OxRdtase_chainI - no_errors NDUFS8 HGNC ENSG00000110717 32 0 0 28 3 9.67742 C11orf24 0 genome.wustl.edu 37 11 68031218 68031218 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 68031218 68031218 C T SNP C11orf24 ENST00000304271 human ensembl 74_37 -1 known silent c.18 p.V6 0.818 NULL NULL - no_errors C11orf24 HGNC ENSG00000171067 49 0 0 38 8 17.3913 OR2AG1 0 genome.wustl.edu 37 11 6806618 6806618 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6806618 6806618 T C SNP OR2AG1 ENST00000307401 human ensembl 74_37 +1 known missense c.350 p.F117S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2AG1 HGNC ENSG00000170803 66 0 0 75 10 11.7647 DEAF1 0 genome.wustl.edu 37 11 687961 687961 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 687961 687961 A G SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known missense c.614 p.V205A 1.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 66 0 0 48 5 9.43396 OR10A2 0 genome.wustl.edu 37 11 6891104 6891104 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6891104 6891104 C A SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known missense c.119 p.P40H 0.859 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A2 HGNC ENSG00000170790 207 1 0.480769 203 12 5.5814 ANO1 0 genome.wustl.edu 37 11 70007370 70007370 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 70007370 70007370 G A SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.1682 p.R561Q 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 81 0 0 68 19 21.8391 ZNF214 0 genome.wustl.edu 37 11 7021635 7021635 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7021635 7021635 A T SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.1279 p.S427T 0.973 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 ZNF214 HGNC ENSG00000149050 128 0 0 106 14 11.6667 SHANK2 0 genome.wustl.edu 37 11 70507799 70507799 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 70507799 70507799 C A SNP SHANK2 ENST00000449833 human ensembl 74_37 -1 known missense c.74 p.R25L 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors SHANK2 HGNC ENSG00000162105 178 1 0.558659 148 10 6.32911 NLRP14 0 genome.wustl.edu 37 11 7081168 7081168 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7081168 7081168 T A SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.2677 p.S893T 0.500 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP14 HGNC ENSG00000158077 76 0 0 65 4 5.7971 NADSYN1 0 genome.wustl.edu 37 11 71209571 71209571 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71209571 71209571 T A SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known missense c.2067 p.N689K 0.000 NULL pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 133 0 0 91 10 9.90099 KRTAP5-10 0 genome.wustl.edu 37 11 71276712 71276712 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71276712 71276712 G A SNP KRTAP5-10 ENST00000398531 human ensembl 74_37 +1 known missense c.79 p.G27S 0.796 NULL NULL - no_errors KRTAP5-10 HGNC ENSG00000204572 103 0 0 104 18 14.7541 FOLR2 0 genome.wustl.edu 37 11 71932594 71932594 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71932594 71932594 C A SNP FOLR2 ENST00000298223 human ensembl 74_37 +1 known missense c.556 p.L186I 0.416 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR2 HGNC ENSG00000165457 146 0 0 144 20 12.1951 INPPL1 0 genome.wustl.edu 37 11 71942175 71942175 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71942175 71942175 A G SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.1439 p.E480G 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 214 0 0 242 22 8.33333 INPPL1 0 genome.wustl.edu 37 11 71942618 71942618 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71942618 71942618 T C SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known missense c.1574 p.V525A 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 73 0 0 59 7 10.6061 INPPL1 0 genome.wustl.edu 37 11 71946494 71946494 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71946494 71946494 C T SNP INPPL1 ENST00000298229 human ensembl 74_37 +1 known silent c.2658 p.Y886 0.995 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 126 0 0 104 32 23.5294 EPS8L2 0 genome.wustl.edu 37 11 722548 722548 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 722548 722548 C T SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known missense c.1207 p.R403C 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 23 0 0 27 15 35.7143 PDE2A 0 genome.wustl.edu 37 11 72295608 72295608 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 72295608 72295608 C T SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known silent c.1524 p.K508 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 21 0 0 14 4 22.2222 P4HA3 0 genome.wustl.edu 37 11 74009355 74009355 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 74009355 74009355 C T SNP P4HA3 ENST00000331597 human ensembl 74_37 -1 known missense c.619 p.A207T 1.000 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 200 0 0 144 13 8.28025 POLD3 0 genome.wustl.edu 37 11 74315765 74315765 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 74315765 74315765 C T SNP POLD3 ENST00000263681 human ensembl 74_37 +1 known nonsense c.145 p.R49* 1.000 pfam_DNA_polymerase_subunit_Cdc27 pfam_DNA_polymerase_subunit_Cdc27 - no_errors POLD3 HGNC ENSG00000077514 83 0 0 54 12 18.1818 SYT9 0 genome.wustl.edu 37 11 7439228 7439228 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7439228 7439228 A T SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.1206 p.R402 0.274 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 83 0 0 59 6 9.23077 CHRDL2 0 genome.wustl.edu 37 11 74421942 74421942 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 74421942 74421942 C T SNP CHRDL2 ENST00000376324 human ensembl 74_37 -1 known missense c.230 p.S77N 1.000 NULL NULL - no_errors CHRDL2 HGNC ENSG00000054938 43 0 0 36 4 10 XRRA1 0 genome.wustl.edu 37 11 74570275 74570275 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 74570275 74570275 T C SNP XRRA1 ENST00000340360 human ensembl 74_37 -1 known silent c.1074 p.S358 0.996 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors XRRA1 HGNC ENSG00000166435 27 0 0 33 3 8.33333 ARRB1 0 genome.wustl.edu 37 11 74993028 74993028 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 74993028 74993028 G A SNP ARRB1 ENST00000393505 human ensembl 74_37 -1 known missense c.392 p.P131L 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ENSG00000137486 28 0 0 32 3 8.57143 RPS3 0 genome.wustl.edu 37 11 75115222 75115222 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 75115222 75115222 C T SNP RPS3 ENST00000527446 human ensembl 74_37 +1 known missense c.509 p.T170I 0.998 pfam_Ribosomal_S3_C,superfamily_Ribosomal_S3_C,tigrfam_Ribosomal_S3_euk/arc pfam_Ribosomal_S3_C,pfam_KH_dom_type_2,superfamily_Ribosomal_S3_C,superfamily_KH_prok-type,pfscan_KH_dom_type_2,tigrfam_Ribosomal_S3_euk/arc - no_errors RPS3 HGNC ENSG00000149273 65 0 0 45 9 16.6667 SNORD15B 0 genome.wustl.edu 37 11 75115466 75115466 + RNA SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 75115466 75115466 T A SNP SNORD15B ENST00000384714 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD15B HGNC ENSG00000207445 149 0 0 112 30 21.1268 TALDO1 0 genome.wustl.edu 37 11 755935 755935 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 755935 755935 G A SNP TALDO1 ENST00000319006 human ensembl 74_37 +1 known missense c.154 p.A52T 0.998 pfam_Transaldolase,tigrfam_Transaldolase_1 pfam_Transaldolase,tigrfam_Transaldolase_1 - no_errors TALDO1 HGNC ENSG00000177156 45 0 0 41 6 12.766 UVRAG 0 genome.wustl.edu 37 11 75694518 75694518 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 75694518 75694518 G A SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.787 p.A263T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 49 0 0 57 4 6.55738 PPFIBP2 0 genome.wustl.edu 37 11 7631603 7631603 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7631603 7631603 G A SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known missense c.568 p.G190S 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 157 0 0 111 8 6.72269 TSKU 0 genome.wustl.edu 37 11 76507436 76507436 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 76507436 76507436 T A SNP TSKU ENST00000333090 human ensembl 74_37 +1 known missense c.776 p.L259Q 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors TSKU HGNC ENSG00000182704 92 0 0 91 10 9.90099 PPFIBP2 0 genome.wustl.edu 37 11 7672093 7672093 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7672093 7672093 T C SNP PPFIBP2 ENST00000299492 human ensembl 74_37 +1 known missense c.2144 p.V715A 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP2 HGNC ENSG00000166387 132 0 0 109 14 11.3821 OMP 0 genome.wustl.edu 37 11 76814187 76814187 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 76814187 76814187 A G SNP OMP ENST00000529803 human ensembl 74_37 +1 known missense c.302 p.D101G 1.000 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC ENSG00000254550 30 0 0 22 3 12 CYB5R2 0 genome.wustl.edu 37 11 7686758 7686758 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7686758 7686758 G T SNP CYB5R2 ENST00000299498 human ensembl 74_37 -1 known silent c.678 p.G226 0.919 pfam_OxRdtase_FAD/NAD-bd,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 39 0 0 32 5 13.5135 CYB5R2 0 genome.wustl.edu 37 11 7693999 7693999 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7693999 7693999 G A SNP CYB5R2 ENST00000299498 human ensembl 74_37 -1 known silent c.58 p.L20 0.990 pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R2 HGNC ENSG00000166394 64 0 0 66 8 10.8108 PAK1 0 genome.wustl.edu 37 11 77091002 77091002 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77091002 77091002 A C SNP PAK1 ENST00000278568 human ensembl 74_37 -1 known silent c.228 p.S76 0.998 pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,superfamily_WASP_C,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK1 HGNC ENSG00000149269 106 0 0 76 7 8.43373 RSF1 0 genome.wustl.edu 37 11 77409545 77409545 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77409545 77409545 T G SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.2702 p.N901T 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 132 1 0.75188 114 11 8.8 INTS4 0 genome.wustl.edu 37 11 77639459 77639459 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77639459 77639459 T C SNP INTS4 ENST00000534064 human ensembl 74_37 -1 known missense c.1300 p.T434A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors INTS4 HGNC ENSG00000149262 65 0 0 52 8 13.3333 ALG8 0 genome.wustl.edu 37 11 77817965 77817965 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77817965 77817965 G A SNP ALG8 ENST00000299626 human ensembl 74_37 -1 known missense c.1066 p.P356S 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG8 HGNC ENSG00000159063 64 0 0 48 5 9.43396 KCTD21 0 genome.wustl.edu 37 11 77885115 77885115 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77885115 77885115 C A SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.486 p.K162N 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 104 0 0 91 5 5.20833 KCTD21 0 genome.wustl.edu 37 11 77885584 77885584 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77885584 77885584 G A SNP KCTD21 ENST00000340067 human ensembl 74_37 -1 known missense c.17 p.T6M 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD21 HGNC ENSG00000188997 22 0 0 26 5 16.129 USP35 0 genome.wustl.edu 37 11 77907407 77907407 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77907407 77907407 T C SNP USP35 ENST00000529308 human ensembl 74_37 +1 known missense c.116 p.L39P 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 25 0 0 12 4 25 USP35 0 genome.wustl.edu 37 11 77921303 77921303 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77921303 77921303 C A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known missense c.2402 p.P801Q 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 83 0 0 69 6 8 OR5P2 0 genome.wustl.edu 37 11 7817752 7817752 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7817752 7817752 C T SNP OR5P2 ENST00000329434 human ensembl 74_37 -1 known silent c.738 p.L246 0.990 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 OR5P2 HGNC ENSG00000183303 120 0 0 86 21 19.6262 TENM4 0 genome.wustl.edu 37 11 78369545 78369545 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 78369545 78369545 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.7868 p.G2623E 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 31 0 0 32 7 17.9487 OR5P3 0 genome.wustl.edu 37 11 7846735 7846735 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7846735 7846735 G T SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known missense c.785 p.P262H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 83 0 0 61 6 8.95522 RIC3 0 genome.wustl.edu 37 11 8161632 8161632 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 8161632 8161632 T C SNP RIC3 ENST00000309737 human ensembl 74_37 -1 known missense c.233 p.K78R 0.995 NULL NULL - no_errors RIC3 HGNC ENSG00000166405 108 0 0 76 5 6.17284 LMO1 0 genome.wustl.edu 37 11 8251944 8251944 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 8251944 8251944 G A SNP LMO1 ENST00000335790 human ensembl 74_37 -1 known missense c.133 p.H45Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMO1 HGNC ENSG00000166407 123 0 0 98 17 14.7826 PCF11 0 genome.wustl.edu 37 11 82878291 82878291 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 82878291 82878291 G A SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.1942 p.A648T 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 121 0 0 94 8 7.84314 PCF11 0 genome.wustl.edu 37 11 82880832 82880832 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 82880832 82880832 T C SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known missense c.3455 p.F1152S 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 61 0 0 36 4 10 CCDC90B 0 genome.wustl.edu 37 11 82989855 82989855 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 82989855 82989855 C A SNP CCDC90B ENST00000529689 human ensembl 74_37 -1 known missense c.238 p.A80S 1.000 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90B HGNC ENSG00000137500 101 0 0 71 4 5.33333 CREBZF 0 genome.wustl.edu 37 11 85375106 85375106 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 85375106 85375106 C T SNP CREBZF ENST00000525639 human ensembl 74_37 -1 known missense c.814 p.A272T 1.000 NULL pfam_bZIP - no_errors CREBZF HGNC ENSG00000137504 142 0 0 155 9 5.4878 SYTL2 0 genome.wustl.edu 37 11 85445705 85445705 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 85445705 85445705 G T SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.667 p.P223T 0.000 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 109 0 0 82 9 9.89011 C11orf73 0 genome.wustl.edu 37 11 86017344 86017344 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 86017344 86017344 T C SNP C11orf73 ENST00000278483 human ensembl 74_37 +1 known missense c.88 p.Y30H 1.000 pfam_DUF775 pfam_DUF775 - no_errors C11orf73 HGNC ENSG00000149196 89 0 0 51 8 13.5593 CCDC81 0 genome.wustl.edu 37 11 86106389 86106389 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 86106389 86106389 T C SNP CCDC81 ENST00000445632 human ensembl 74_37 +1 known missense c.569 p.V190A 0.966 NULL superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 80 0 0 58 7 10.7692 TSPAN4 0 genome.wustl.edu 37 11 866596 866596 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 866596 866596 G A SNP TSPAN4 ENST00000397397 human ensembl 74_37 +1 known missense c.683 p.C228Y 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN4 HGNC ENSG00000214063 26 0 0 21 10 32.2581 FZD4 0 genome.wustl.edu 37 11 86665896 86665896 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 86665896 86665896 G A SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known nonsense c.232 p.Q78* 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 27 0 0 24 5 17.2414 GRM5 0 genome.wustl.edu 37 11 88242507 88242507 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 88242507 88242507 G A SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known silent c.2892 p.G964 0.222 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 33 0 0 32 6 15.7895 GRM5 0 genome.wustl.edu 37 11 88780887 88780887 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 88780887 88780887 C T SNP GRM5 ENST00000305447 human ensembl 74_37 -1 known missense c.154 p.V52I 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC ENSG00000168959 55 0 0 28 8 22.2222 AKIP1 0 genome.wustl.edu 37 11 8940962 8940962 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 8940962 8940962 A G SNP AKIP1 ENST00000309377 human ensembl 74_37 +1 known missense c.568 p.T190A 0.000 NULL NULL - no_errors AKIP1 HGNC ENSG00000166452 133 0 0 104 31 22.963 SCUBE2 0 genome.wustl.edu 37 11 9077338 9077338 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 9077338 9077338 A G SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known splice_site c.1207+2 e10+2 1.000 - - - no_errors SCUBE2 HGNC ENSG00000175356 118 0 0 113 14 11.0236 FAT3 0 genome.wustl.edu 37 11 92087436 92087436 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 92087436 92087436 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2158 p.R720G 0.999 superfamily_Cadherin-like 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 297 0 0 188 13 6.46766 FAT3 0 genome.wustl.edu 37 11 92087574 92087574 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 92087574 92087574 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2296 p.S766T 0.948 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 218 0 0 158 17 9.71429 FAT3 0 genome.wustl.edu 37 11 92531257 92531257 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 92531257 92531257 T A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.5078 p.I1693N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 137 0 0 107 6 5.30973 FAT3 0 genome.wustl.edu 37 11 92534472 92534472 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 92534472 92534472 A T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.8293 p.I2765F 0.508 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 59 0 0 54 7 11.4754 FAT3 0 genome.wustl.edu 37 11 92568120 92568120 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 92568120 92568120 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.9956 p.P3319Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 30 0 0 23 3 11.5385 FAT3 0 genome.wustl.edu 37 11 92568182 92568182 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 92568182 92568182 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.10018 p.K3340E 0.001 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 46 0 0 23 3 11.5385 FAT3 0 genome.wustl.edu 37 11 92616316 92616316 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 92616316 92616316 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12694 p.V4232M 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 123 0 0 153 15 8.92857 MED17 0 genome.wustl.edu 37 11 93545200 93545200 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 93545200 93545200 T C SNP MED17 ENST00000251871 human ensembl 74_37 +1 known silent c.1926 p.L642 0.872 NULL pfam_Mediator_Med17 - no_errors MED17 HGNC ENSG00000042429 132 0 0 93 7 7 FOLR4 0 genome.wustl.edu 37 11 94038882 94038882 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 94038882 94038882 G C SNP FOLR4 ENST00000440961 human ensembl 74_37 +1 novel missense c.80 p.C27S 1.000 pfam_Folate_rcpt-like pfam_Folate_rcpt-like - no_errors FOLR4 HGNC ENSG00000183560 79 0 0 75 4 5.06329 GPR83 0 genome.wustl.edu 37 11 94134373 94134373 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 94134373 94134373 A G SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known missense c.41 p.V14A 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 46 0 0 35 4 10.2564 MRE11A 0 genome.wustl.edu 37 11 94200987 94200987 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 94200987 94200987 G A SNP MRE11A ENST00000323929 human ensembl 74_37 -1 known nonsense c.1090 p.R364* 0.995 pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 131 0 0 72 25 25.7732 MTMR2 0 genome.wustl.edu 37 11 95578206 95578206 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 95578206 95578206 G A SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known missense c.1297 p.L433F 1.000 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 93 0 0 73 5 6.41026 MTMR2 0 genome.wustl.edu 37 11 95578262 95578262 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 95578262 95578262 A G SNP MTMR2 ENST00000346299 human ensembl 74_37 -1 known missense c.1241 p.V414A 1.000 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR2 HGNC ENSG00000087053 78 0 0 75 8 9.63855 MAML2 0 genome.wustl.edu 37 11 95724805 95724805 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 95724805 95724805 T C SNP MAML2 ENST00000524717 human ensembl 74_37 -1 known missense c.2222 p.Y741C 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 142 0 0 119 10 7.75194 SBF2 0 genome.wustl.edu 37 11 9879811 9879811 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 9879811 9879811 C A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.2062 p.A688S 0.998 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 188 1 0.529101 165 13 7.30337 AP2A2 0 genome.wustl.edu 37 11 988613 988613 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 988613 988613 G A SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1196 p.R399H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 129 0 0 143 12 7.74194 SBF2 0 genome.wustl.edu 37 11 9989942 9989942 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 9989942 9989942 G C SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.1546 p.P516A 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 145 0 0 103 10 8.84956 WNK1 0 genome.wustl.edu 37 12 1003798 1003798 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 1003798 1003798 T C SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.7074 p.F2358 1.000 NULL pfam_Prot_kinase_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_dom - no_errors WNK1 HGNC ENSG00000060237 121 0 0 72 21 22.5806 GOLGA2P5 0 genome.wustl.edu 37 12 100551023 100551023 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 100551023 100551023 C T SNP GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 42 0 0 48 5 9.43396 WNK1 0 genome.wustl.edu 37 12 1006677 1006677 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 1006677 1006677 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.7772 p.R2591H 1.000 NULL pfam_Prot_kinase_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_dom - no_errors WNK1 HGNC ENSG00000060237 78 0 0 51 7 12.069 SCYL2 0 genome.wustl.edu 37 12 100729611 100729611 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 100729611 100729611 A G SNP SCYL2 ENST00000360820 human ensembl 74_37 +1 known missense c.1952 p.N651S 0.990 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SCYL2 HGNC ENSG00000136021 226 0 0 128 11 7.91367 SLC17A8 0 genome.wustl.edu 37 12 100813785 100813785 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 100813785 100813785 G A SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known missense c.1618 p.A540T 0.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 34 0 0 35 6 14.6341 ANO4 0 genome.wustl.edu 37 12 101336299 101336299 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 101336299 101336299 C A SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.442 p.Q148K 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 177 0 0 111 24 17.7778 SLC5A8 0 genome.wustl.edu 37 12 101603516 101603516 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 101603516 101603516 G A SNP SLC5A8 ENST00000536262 human ensembl 74_37 -1 known silent c.111 p.G37 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC ENSG00000256870 37 0 0 33 12 26.6667 CLEC12B 0 genome.wustl.edu 37 12 10163385 10163385 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 10163385 10163385 A G SNP CLEC12B ENST00000338896 human ensembl 74_37 +1 known silent c.27 p.T9 0.914 NULL pfam_C-type_lectin,pfam_Ly49,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12B HGNC ENSG00000256660 47 0 0 35 8 18.6047 UTP20 0 genome.wustl.edu 37 12 101693535 101693535 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 101693535 101693535 T A SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known silent c.1506 p.S502 0.002 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 97 0 0 85 7 7.6087 UTP20 0 genome.wustl.edu 37 12 101713323 101713323 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 101713323 101713323 G T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.2739 p.K913N 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 104 0 0 52 6 10.3448 UTP20 0 genome.wustl.edu 37 12 101773254 101773254 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 101773254 101773254 A G SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.7502 p.Q2501R 0.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 107 0 0 80 9 10.1124 CHPT1 0 genome.wustl.edu 37 12 102108321 102108321 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 102108321 102108321 G A SNP CHPT1 ENST00000229266 human ensembl 74_37 +1 known missense c.461 p.G154E 1.000 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 104 0 0 54 12 18.1818 CHPT1 0 genome.wustl.edu 37 12 102110522 102110522 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 102110522 102110522 A T SNP CHPT1 ENST00000229266 human ensembl 74_37 +1 known missense c.580 p.I194F 1.000 pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 78 0 0 59 5 7.8125 CLEC9A 0 genome.wustl.edu 37 12 10213735 10213735 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 10213735 10213735 T C SNP CLEC9A ENST00000355819 human ensembl 74_37 +1 putative missense c.182 p.V61A 0.431 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC9A HGNC ENSG00000197992 59 0 0 39 3 7.14286 GNPTAB 0 genome.wustl.edu 37 12 102151087 102151087 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 102151087 102151087 A C SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.3337 p.F1113V 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 58 0 0 47 6 11.3208 CCDC53 0 genome.wustl.edu 37 12 102439888 102439888 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 102439888 102439888 C T SNP CCDC53 ENST00000240079 human ensembl 74_37 -1 known missense c.160 p.D54N 1.000 pfam_WASH_CCDC53 pfam_WASH_CCDC53 - no_errors CCDC53 HGNC ENSG00000120860 42 0 0 25 3 10.7143 CLEC7A 0 genome.wustl.edu 37 12 10278009 10278009 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 10278009 10278009 A G SNP CLEC7A ENST00000304084 human ensembl 74_37 -1 known missense c.379 p.Y127H 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC7A HGNC ENSG00000172243 63 0 0 47 6 11.3208 RAD52 0 genome.wustl.edu 37 12 1038990 1038990 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 1038990 1038990 G A SNP RAD52 ENST00000358495 human ensembl 74_37 -1 known silent c.343 p.L115 0.939 pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 pfam_Rad52_Rad22,tigrfam_DNA_recomb/repair_Rad52 - no_errors RAD52 HGNC ENSG00000002016 252 0 0 240 21 8.04598 NT5DC3 0 genome.wustl.edu 37 12 104179252 104179252 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 104179252 104179252 T A SNP NT5DC3 ENST00000392876 human ensembl 74_37 -1 known missense c.1190 p.D397V 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC3 HGNC ENSG00000111696 80 0 0 50 13 20.6349 TDG 0 genome.wustl.edu 37 12 104373771 104373771 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 104373771 104373771 G A SNP TDG ENST00000392872 human ensembl 74_37 +1 known missense c.329 p.R110H 1.000 tigrfam_Thymine-DNA_glycosylase pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like,tigrfam_Thymine-DNA_glycosylase - no_errors TDG HGNC ENSG00000139372 90 0 0 84 5 5.61798 TXNRD1 0 genome.wustl.edu 37 12 104682799 104682799 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 104682799 104682799 G A SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.395 p.G132D 1.000 superfamily_Thioredoxin-like_fold pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 122 0 0 113 30 20.979 EID3 0 genome.wustl.edu 37 12 104697736 104697736 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 104697736 104697736 G T SNP EID3 ENST00000527879 human ensembl 74_37 +1 known missense c.24 p.R8S 0.004 NULL pfam_Nse4_C - no_errors EID3 HGNC ENSG00000255150 22 0 0 15 3 16.6667 TXNRD1 0 genome.wustl.edu 37 12 104705127 104705127 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 104705127 104705127 C T SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known silent c.474 p.P158 0.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 39 0 0 29 2 6.45161 CHST11 0 genome.wustl.edu 37 12 105151226 105151226 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 105151226 105151226 T A SNP CHST11 ENST00000303694 human ensembl 74_37 +1 known missense c.704 p.V235D 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST11 HGNC ENSG00000171310 58 0 0 63 7 10 SLC41A2 0 genome.wustl.edu 37 12 105199107 105199107 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 105199107 105199107 G A SNP SLC41A2 ENST00000258538 human ensembl 74_37 -1 known silent c.1545 p.T515 1.000 pfam_SLC41_membr_dom pfam_SLC41_membr_dom - no_errors SLC41A2 HGNC ENSG00000136052 159 0 0 111 10 8.26446 CKAP4 0 genome.wustl.edu 37 12 106632882 106632882 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 106632882 106632882 C T SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.1729 p.A577T 0.185 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 251 0 0 195 18 8.4507 CKAP4 0 genome.wustl.edu 37 12 106632988 106632988 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 106632988 106632988 G T SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known silent c.1623 p.A541 0.999 superfamily_STAT_TF_coiled-coil superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 141 0 0 107 9 7.75862 CKAP4 0 genome.wustl.edu 37 12 106633214 106633214 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 106633214 106633214 T A SNP CKAP4 ENST00000378026 human ensembl 74_37 -1 known missense c.1397 p.D466V 0.001 NULL superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil - no_errors CKAP4 HGNC ENSG00000136026 64 0 0 53 8 13.1148 TCP11L2 0 genome.wustl.edu 37 12 106729566 106729566 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 106729566 106729566 C G SNP TCP11L2 ENST00000299045 human ensembl 74_37 +1 known missense c.922 p.L308V 0.995 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11L2 HGNC ENSG00000166046 85 0 0 55 21 27.6316 POLR3B 0 genome.wustl.edu 37 12 106821127 106821127 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 106821127 106821127 T C SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known silent c.1254 p.A418 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 123 0 0 90 10 10 RFX4 0 genome.wustl.edu 37 12 107103144 107103144 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 107103144 107103144 G T SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known silent c.897 p.L299 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 60 0 0 40 10 20 RFX4 0 genome.wustl.edu 37 12 107155091 107155091 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 107155091 107155091 C T SNP RFX4 ENST00000357881 human ensembl 74_37 +1 known silent c.2079 p.C693 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC ENSG00000111783 106 0 0 124 9 6.76692 CRY1 0 genome.wustl.edu 37 12 107415864 107415864 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 107415864 107415864 T C SNP CRY1 ENST00000008527 human ensembl 74_37 -1 known missense c.265 p.K89E 1.000 pfam_DNA_photolyase_N,superfamily_DNA_photolyase_N pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_DNA_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_DNA_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 247 0 0 147 13 8.125 STYK1 0 genome.wustl.edu 37 12 10777265 10777265 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 10777265 10777265 C T SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.911 p.S304N 0.771 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_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 163 0 0 122 8 6.15385 BTBD11 0 genome.wustl.edu 37 12 108011113 108011113 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 108011113 108011113 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.2131 p.G711S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 160 0 0 134 22 14.1026 FICD 0 genome.wustl.edu 37 12 108912565 108912565 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 108912565 108912565 A G SNP FICD ENST00000552695 human ensembl 74_37 +1 known silent c.690 p.T230 0.868 NULL pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FICD HGNC ENSG00000198855 43 0 0 46 5 9.80392 CORO1C 0 genome.wustl.edu 37 12 109046095 109046095 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 109046095 109046095 A G SNP CORO1C ENST00000420959 human ensembl 74_37 -1 known silent c.1113 p.G371 0.013 pfam_DUF1900 pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1C HGNC ENSG00000110880 193 0 0 159 9 5.35714 SSH1 0 genome.wustl.edu 37 12 109182581 109182581 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 109182581 109182581 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.2333 p.S778L 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH1 HGNC ENSG00000084112 139 0 0 135 11 7.53425 USP30 0 genome.wustl.edu 37 12 109519161 109519161 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 109519161 109519161 T C SNP USP30 ENST00000257548 human ensembl 74_37 +1 known missense c.743 p.F248S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP30 HGNC ENSG00000135093 190 0 0 133 13 8.90411 ACACB 0 genome.wustl.edu 37 12 109625968 109625968 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 109625968 109625968 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known splice_site c.2144+1 e12+1 1.000 - - - no_errors ACACB HGNC ENSG00000076555 59 0 0 48 10 17.2414 MYO1H 0 genome.wustl.edu 37 12 109845668 109845668 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 109845668 109845668 C T SNP MYO1H ENST00000431443 human ensembl 74_37 +1 known nonsense c.1057 p.R353* 0.962 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1H HGNC ENSG00000174527 86 0 0 52 17 24.6377 UBE3B 0 genome.wustl.edu 37 12 109945425 109945425 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 109945425 109945425 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.1507 p.G503R 1.000 NULL pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 145 0 0 99 35 26.1194 GIT2 0 genome.wustl.edu 37 12 110427530 110427530 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 110427530 110427530 A G SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known silent c.264 p.S88 0.528 pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,pfscan_ArfGAP pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 104 0 0 83 8 8.79121 ANKRD13A 0 genome.wustl.edu 37 12 110456152 110456152 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 110456152 110456152 C T SNP ANKRD13A ENST00000261739 human ensembl 74_37 +1 known missense c.403 p.P135S 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13A HGNC ENSG00000076513 85 0 0 42 10 19.2308 TAS2R13 0 genome.wustl.edu 37 12 11061110 11061110 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 11061110 11061110 T C SNP TAS2R13 ENST00000390677 human ensembl 74_37 -1 known missense c.788 p.Y263C 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 56 0 0 49 5 9.25926 HVCN1 0 genome.wustl.edu 37 12 111089064 111089064 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 111089064 111089064 G A SNP HVCN1 ENST00000242607 human ensembl 74_37 -1 known silent c.601 p.L201 0.977 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors HVCN1 HGNC ENSG00000122986 50 0 0 47 7 12.963 CCDC63 0 genome.wustl.edu 37 12 111317857 111317857 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 111317857 111317857 G A SNP CCDC63 ENST00000308208 human ensembl 74_37 +1 known missense c.637 p.A213T 0.997 NULL NULL - no_errors CCDC63 HGNC ENSG00000173093 184 0 0 125 21 14.3836 HECTD4 0 genome.wustl.edu 37 12 112707608 112707608 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 112707608 112707608 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1675 p.D559N 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 58 0 0 46 4 8 HECTD4 0 genome.wustl.edu 37 12 112708191 112708191 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 112708191 112708191 A T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1469 p.L490H 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 370 0 0 291 28 8.77743 RPH3A 0 genome.wustl.edu 37 12 113307841 113307841 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113307841 113307841 G T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.793 p.A265S 0.998 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 36 0 0 31 7 18.4211 OAS3 0 genome.wustl.edu 37 12 113379524 113379524 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113379524 113379524 G A SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known nonsense c.327 p.W109* 0.000 NULL pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 91 0 0 92 12 11.5385 DTX1 0 genome.wustl.edu 37 12 113496081 113496081 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113496081 113496081 G A SNP DTX1 ENST00000257600 human ensembl 74_37 +1 known nonsense c.84 p.W28* 1.000 pfam_WWE-dom,smart_WWE-dom_subgr,pfscan_WWE-dom pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC ENSG00000135144 44 0 0 45 6 11.7647 DDX54 0 genome.wustl.edu 37 12 113603808 113603808 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113603808 113603808 G A SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.1444 p.R482W 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 39 0 0 24 5 17.2414 C12orf52 0 genome.wustl.edu 37 12 113629143 113629143 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113629143 113629143 G A SNP C12orf52 ENST00000548278 human ensembl 74_37 +1 known missense c.331 p.D111N 0.994 NULL NULL - no_errors C12orf52 HGNC ENSG00000139405 68 0 0 58 7 10.7692 IQCD 0 genome.wustl.edu 37 12 113633490 113633490 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113633490 113633490 A G SNP IQCD ENST00000416617 human ensembl 74_37 -1 known missense c.1240 p.Y414H 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCD HGNC ENSG00000166578 104 1 0.952381 94 11 10.4762 SDSL 0 genome.wustl.edu 37 12 113874657 113874657 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113874657 113874657 T C SNP SDSL ENST00000345635 human ensembl 74_37 +1 known missense c.773 p.V258A 0.800 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 47 0 0 48 3 5.88235 LHX5 0 genome.wustl.edu 37 12 113906051 113906051 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 113906051 113906051 T C SNP LHX5 ENST00000261731 human ensembl 74_37 -1 known missense c.556 p.T186A 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX5 HGNC ENSG00000089116 41 0 0 47 4 7.84314 RBM19 0 genome.wustl.edu 37 12 114364873 114364873 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 114364873 114364873 C A SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known nonsense c.2230 p.E744* 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 68 0 0 68 6 8.10811 RBM19 0 genome.wustl.edu 37 12 114397977 114397977 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 114397977 114397977 A G SNP RBM19 ENST00000261741 human ensembl 74_37 -1 known missense c.226 p.F76L 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 45 0 0 45 5 10 MED13L 0 genome.wustl.edu 37 12 116446399 116446399 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 116446399 116446399 G T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.1819 p.P607T 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 51 0 0 41 4 8.88889 FBXW8 0 genome.wustl.edu 37 12 117365830 117365830 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 117365830 117365830 T C SNP FBXW8 ENST00000309909 human ensembl 74_37 +1 known silent c.321 p.N107 1.000 superfamily_F-box_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinonprotein_ADH-like_supfam,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW8 HGNC ENSG00000174989 88 0 0 53 4 7.01754 FBXO21 0 genome.wustl.edu 37 12 117615411 117615411 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 117615411 117615411 A T SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.506 p.I169N 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 133 0 0 83 8 8.79121 KSR2 0 genome.wustl.edu 37 12 117962760 117962760 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 117962760 117962760 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.2116 p.A706T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 35 0 0 27 4 12.9032 WSB2 0 genome.wustl.edu 37 12 118473035 118473035 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 118473035 118473035 T C SNP WSB2 ENST00000315436 human ensembl 74_37 -1 known missense c.928 p.T310A 0.983 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 105 0 0 94 6 6 TAOK3 0 genome.wustl.edu 37 12 118599655 118599655 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 118599655 118599655 G A SNP TAOK3 ENST00000392533 human ensembl 74_37 -1 known nonsense c.2077 p.R693* 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 TAOK3 HGNC ENSG00000135090 241 0 0 167 25 13.0208 SRRM4 0 genome.wustl.edu 37 12 119419782 119419782 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 119419782 119419782 T A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.95 p.I32N 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 15 0 0 13 3 18.75 SRRM4 0 genome.wustl.edu 37 12 119568536 119568536 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 119568536 119568536 G A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.668 p.R223H 0.154 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 33 0 0 24 6 20 HSPB8 0 genome.wustl.edu 37 12 119631646 119631646 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 119631646 119631646 G A SNP HSPB8 ENST00000281938 human ensembl 74_37 +1 known missense c.574 p.E192K 1.000 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors HSPB8 HGNC ENSG00000152137 83 0 0 70 8 10.2564 CCDC60 0 genome.wustl.edu 37 12 119909923 119909923 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 119909923 119909923 C T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known missense c.295 p.P99S 0.968 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 288 0 0 237 19 7.42188 ETV6 0 genome.wustl.edu 37 12 12022490 12022490 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 12022490 12022490 G A SNP ETV6 ENST00000396373 human ensembl 74_37 +1 known missense c.596 p.R199Q 1.000 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV6 HGNC ENSG00000139083 177 1 0.561798 148 14 8.64198 CIT 0 genome.wustl.edu 37 12 120295414 120295414 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 120295414 120295414 A G SNP CIT ENST00000261833 human ensembl 74_37 -1 known silent c.327 p.A109 0.530 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,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 286 0 0 216 18 7.69231 GCN1L1 0 genome.wustl.edu 37 12 120591161 120591161 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 120591161 120591161 C T SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known silent c.3918 p.A1306 0.001 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 50 0 0 41 10 19.6078 RPLP0 0 genome.wustl.edu 37 12 120637168 120637168 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 120637168 120637168 T C SNP RPLP0 ENST00000228306 human ensembl 74_37 -1 known missense c.175 p.T59A 1.000 pfam_Ribosomal_L10/acidic_P0 pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_L10/L12 - no_errors RPLP0 HGNC ENSG00000089157 96 0 0 94 8 7.84314 MSI1 0 genome.wustl.edu 37 12 120783402 120783402 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 120783402 120783402 A G SNP MSI1 ENST00000257552 human ensembl 74_37 -1 known missense c.1081 p.Y361H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 111 0 0 119 10 7.75194 SPPL3 0 genome.wustl.edu 37 12 121206174 121206174 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 121206174 121206174 G A SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known missense c.727 p.R243C 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 135 0 0 99 32 24.4275 P2RX4 0 genome.wustl.edu 37 12 121660770 121660770 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 121660770 121660770 G A SNP P2RX4 ENST00000337233 human ensembl 74_37 +1 known missense c.448 p.V150I 0.948 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX4 HGNC ENSG00000135124 33 0 0 22 5 18.5185 KDM2B 0 genome.wustl.edu 37 12 122016814 122016814 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122016814 122016814 T C SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.164 p.D55G 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 79 0 0 82 11 11.828 TMEM120B 0 genome.wustl.edu 37 12 122213555 122213555 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122213555 122213555 G A SNP TMEM120B ENST00000342607 human ensembl 74_37 +1 known missense c.947 p.G316D 1.000 pfam_TMPIT pfam_TMPIT - no_errors TMEM120B HGNC ENSG00000188735 92 0 0 100 8 7.40741 RHOF 0 genome.wustl.edu 37 12 122217484 122217484 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122217484 122217484 G A SNP RHOF ENST00000267205 human ensembl 74_37 -1 known missense c.556 p.R186W 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOF HGNC ENSG00000139725 74 0 0 70 17 19.5402 MLXIP 0 genome.wustl.edu 37 12 122623419 122623419 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122623419 122623419 T A SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known missense c.2442 p.D814E 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 50 0 0 32 7 17.9487 MLXIP 0 genome.wustl.edu 37 12 122625562 122625562 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122625562 122625562 T C SNP MLXIP ENST00000319080 human ensembl 74_37 +1 known missense c.2570 p.L857P 0.981 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 56 0 0 61 20 24.6914 IL31 0 genome.wustl.edu 37 12 122657248 122657248 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122657248 122657248 G A SNP IL31 ENST00000377035 human ensembl 74_37 -1 known missense c.206 p.T69M 0.000 NULL NULL - no_errors IL31 HGNC ENSG00000204671 36 0 0 26 8 23.5294 VPS33A 0 genome.wustl.edu 37 12 122720408 122720408 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122720408 122720408 C T SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known silent c.1365 p.P455 0.004 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 227 1 0.438596 212 29 12.0332 HCAR1 0 genome.wustl.edu 37 12 123214131 123214131 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 123214131 123214131 G A SNP HCAR1 ENST00000356987 human ensembl 74_37 -1 known silent c.756 p.C252 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR1 HGNC ENSG00000196917 80 0 0 91 7 7.14286 CCDC62 0 genome.wustl.edu 37 12 123265820 123265820 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 123265820 123265820 G T SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known missense c.339 p.Q113H 0.999 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 114 0 0 83 21 20.1923 CCDC62 0 genome.wustl.edu 37 12 123285971 123285971 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 123285971 123285971 A G SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known silent c.1278 p.T426 0.000 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 44 0 0 41 6 12.766 CCDC62 0 genome.wustl.edu 37 12 123297963 123297963 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 123297963 123297963 A G SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known silent c.1998 p.T666 0.000 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 49 0 0 52 3 5.45455 RILPL2 0 genome.wustl.edu 37 12 123915133 123915133 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 123915133 123915133 A G SNP RILPL2 ENST00000280571 human ensembl 74_37 -1 known missense c.413 p.L138P 1.000 pfam_RILP pfam_RILP - no_errors RILPL2 HGNC ENSG00000150977 107 0 0 97 9 8.49057 TMED2 0 genome.wustl.edu 37 12 124069277 124069277 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124069277 124069277 T C SNP TMED2 ENST00000262225 human ensembl 74_37 +1 known missense c.94 p.C32R 1.000 pfam_GOLD,superfamily_GOLD,pfscan_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED2 HGNC ENSG00000086598 71 0 0 77 8 9.41176 ATP6V0A2 0 genome.wustl.edu 37 12 124228803 124228803 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124228803 124228803 C T SNP ATP6V0A2 ENST00000330342 human ensembl 74_37 +1 known silent c.1245 p.F415 0.931 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A2 HGNC ENSG00000185344 213 0 0 134 35 20.7101 DNAH10 0 genome.wustl.edu 37 12 124268706 124268706 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124268706 124268706 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.1029 p.T343 0.040 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 103 0 0 70 6 7.89474 DNAH10 0 genome.wustl.edu 37 12 124330561 124330561 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124330561 124330561 T C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.5320 p.F1774L 0.999 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 122 0 0 117 8 6.4 NCOR2 0 genome.wustl.edu 37 12 124832728 124832728 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124832728 124832728 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.3998 p.S1333N 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 44 0 0 38 4 9.52381 NCOR2 0 genome.wustl.edu 37 12 124835152 124835152 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124835152 124835152 G T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.3846 p.G1282 0.993 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 105 0 0 94 7 6.93069 NCOR2 0 genome.wustl.edu 37 12 124882718 124882718 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124882718 124882718 T G SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1823 p.E608A 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 96 0 0 108 8 6.89655 NCOR2 0 genome.wustl.edu 37 12 124885063 124885063 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124885063 124885063 C A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1797 p.Q599H 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 121 0 0 135 13 8.78378 SCARB1 0 genome.wustl.edu 37 12 125294824 125294824 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 125294824 125294824 C A SNP SCARB1 ENST00000415380 human ensembl 74_37 -1 known missense c.738 p.W246C 1.000 pfam_CD36 pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 40 0 0 54 6 10 DHX37 0 genome.wustl.edu 37 12 125435020 125435020 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 125435020 125435020 T C SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known silent c.3060 p.E1020 0.814 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 28 0 0 35 2 5.40541 DHX37 0 genome.wustl.edu 37 12 125444895 125444895 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 125444895 125444895 T C SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.2120 p.D707G 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 120 1 0.826446 125 7 5.30303 AACS 0 genome.wustl.edu 37 12 125591759 125591759 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 125591759 125591759 T C SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.860 p.I287T 1.000 pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 59 0 0 65 4 5.7971 AACS 0 genome.wustl.edu 37 12 125621279 125621279 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 125621279 125621279 A T SNP AACS ENST00000316519 human ensembl 74_37 +1 known missense c.1750 p.I584F 0.879 tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 67 0 0 61 4 6.15385 TMEM132B 0 genome.wustl.edu 37 12 126004077 126004077 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 126004077 126004077 T C SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.1184 p.V395A 0.992 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 124 0 0 93 11 10.5769 TMEM132D 0 genome.wustl.edu 37 12 129559064 129559064 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 129559064 129559064 T C SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.2656 p.T886A 0.997 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 72 0 0 60 4 6.25 TMEM132D 0 genome.wustl.edu 37 12 130185180 130185180 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 130185180 130185180 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.143 p.P48L 0.999 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 54 0 0 45 5 10 FZD10 0 genome.wustl.edu 37 12 130648123 130648123 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 130648123 130648123 G A SNP FZD10 ENST00000539839 human ensembl 74_37 +1 known missense c.538 p.A180T 0.980 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 27 0 0 25 4 13.7931 RIMBP2 0 genome.wustl.edu 37 12 130897259 130897259 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 130897259 130897259 T A SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2726 p.N909I 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 96 0 0 90 8 8.16327 RIMBP2 0 genome.wustl.edu 37 12 130898739 130898739 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 130898739 130898739 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known silent c.2583 p.P861 0.217 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 111 0 0 117 8 6.4 GPRC5D 0 genome.wustl.edu 37 12 13095228 13095228 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 13095228 13095228 T C SNP GPRC5D ENST00000228887 human ensembl 74_37 -1 known silent c.930 p.A310 1.000 NULL pfam_GPCR_3_C - no_errors GPRC5D HGNC ENSG00000111291 117 0 0 141 12 7.84314 GPR133 0 genome.wustl.edu 37 12 131569156 131569156 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 131569156 131569156 G A SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known missense c.1619 p.R540H 0.853 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 45 0 0 36 12 25 SFSWAP 0 genome.wustl.edu 37 12 132241057 132241057 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 132241057 132241057 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.1588 p.P530S 0.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 114 0 0 99 7 6.60377 SFSWAP 0 genome.wustl.edu 37 12 132249139 132249139 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 132249139 132249139 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.1859 p.A620V 0.029 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 53 0 0 47 5 9.61538 SFSWAP 0 genome.wustl.edu 37 12 132281751 132281751 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 132281751 132281751 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.2563 p.R855W 0.972 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 139 0 0 119 21 15 MMP17 0 genome.wustl.edu 37 12 132334582 132334582 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 132334582 132334582 C T SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known silent c.1440 p.D480 0.846 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 28 0 0 27 4 12.9032 EP400 0 genome.wustl.edu 37 12 132508396 132508396 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 132508396 132508396 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.4873 p.P1625S 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 48 0 0 35 11 23.913 EP400 0 genome.wustl.edu 37 12 132534928 132534928 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 132534928 132534928 C T SNP EP400 ENST00000333577 human ensembl 74_37 +1 known missense c.7369 p.H2457Y 0.998 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 78 0 0 54 16 22.8571 P2RX2 0 genome.wustl.edu 37 12 133197925 133197925 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133197925 133197925 T C SNP P2RX2 ENST00000343948 human ensembl 74_37 +1 known silent c.990 p.H330 0.645 pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X2_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX2 HGNC ENSG00000187848 76 0 0 74 6 7.5 POLE 0 genome.wustl.edu 37 12 133214612 133214612 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133214612 133214612 T C SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.5666 p.Y1889C 1.000 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 93 0 0 90 9 9.09091 POLE 0 genome.wustl.edu 37 12 133234500 133234500 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133234500 133234500 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.3332 p.R1111Q 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 158 0 0 110 32 22.5352 POLE 0 genome.wustl.edu 37 12 133245074 133245074 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133245074 133245074 T G SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.2041 p.S681R 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 90 0 0 85 8 8.60215 POLE 0 genome.wustl.edu 37 12 133249803 133249803 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133249803 133249803 C T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.1420 p.V474I 1.000 pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 84 0 0 68 18 20.9302 PGAM5 0 genome.wustl.edu 37 12 133291482 133291482 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133291482 133291482 A G SNP PGAM5 ENST00000498926 human ensembl 74_37 +1 known missense c.230 p.N77S 0.378 NULL pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors PGAM5 HGNC ENSG00000247077 80 0 0 68 4 5.55556 ANKLE2 0 genome.wustl.edu 37 12 133306795 133306795 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133306795 133306795 T C SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.1953 p.I651M 0.054 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 86 0 0 70 4 5.40541 ANKLE2 0 genome.wustl.edu 37 12 133324563 133324563 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133324563 133324563 T C SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.1085 p.N362S 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 67 0 0 64 7 9.85915 GOLGA3 0 genome.wustl.edu 37 12 133350896 133350896 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133350896 133350896 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.4154 p.P1385L 0.855 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 65 0 0 51 15 22.7273 GOLGA3 0 genome.wustl.edu 37 12 133363022 133363022 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133363022 133363022 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3026 p.R1009H 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 22 0 0 22 6 21.4286 CHFR 0 genome.wustl.edu 37 12 133433166 133433166 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133433166 133433166 T C SNP CHFR ENST00000266880 human ensembl 74_37 -1 known missense c.1153 p.I385V 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 359 0 0 292 30 9.31677 CHFR 0 genome.wustl.edu 37 12 133433184 133433184 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 133433184 133433184 T C SNP CHFR ENST00000266880 human ensembl 74_37 -1 known missense c.1135 p.M379V 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING - no_errors CHFR HGNC ENSG00000072609 354 0 0 262 32 10.8844 GRIN2B 0 genome.wustl.edu 37 12 13716607 13716607 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 13716607 13716607 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.3565 p.V1189M 0.988 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 94 0 0 92 16 14.8148 GRIN2B 0 genome.wustl.edu 37 12 13768096 13768096 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 13768096 13768096 C T SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.1606 p.V536I 1.000 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 115 0 0 87 14 13.8614 ATF7IP 0 genome.wustl.edu 37 12 14577340 14577340 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 14577340 14577340 C T SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known missense c.491 p.P164L 0.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 72 0 0 91 6 6.18557 ATF7IP 0 genome.wustl.edu 37 12 14649274 14649274 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 14649274 14649274 T C SNP ATF7IP ENST00000261168 human ensembl 74_37 +1 known silent c.3390 p.H1130 0.975 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ATF7IP HGNC ENSG00000171681 41 0 0 26 4 13.3333 GUCY2C 0 genome.wustl.edu 37 12 14804958 14804958 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 14804958 14804958 T A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.1540 p.I514F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 91 0 0 56 6 9.67742 GUCY2C 0 genome.wustl.edu 37 12 14813967 14813967 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 14813967 14813967 T C SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.1312 p.T438A 1.000 NULL pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 97 0 0 75 8 9.63855 GUCY2C 0 genome.wustl.edu 37 12 14822720 14822720 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 14822720 14822720 A G SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known silent c.1218 p.P406 0.000 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_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 108 0 0 111 10 8.26446 GUCY2C 0 genome.wustl.edu 37 12 14849242 14849242 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 14849242 14849242 A G SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known silent c.141 p.F47 0.905 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_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 48 0 0 42 7 14.2857 PTPRO 0 genome.wustl.edu 37 12 15652375 15652375 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 15652375 15652375 G T SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known splice_site c.509-1 e4-1 1.000 - - - no_errors PTPRO HGNC ENSG00000151490 100 1 0.990099 79 8 9.1954 PTPRO 0 genome.wustl.edu 37 12 15679131 15679131 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 15679131 15679131 A C SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.2099 p.N700T 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 115 1 0.862069 104 9 7.9646 EPS8 0 genome.wustl.edu 37 12 15803899 15803899 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 15803899 15803899 G A SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known missense c.1292 p.P431L 0.926 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 148 0 0 131 9 6.42857 EPS8 0 genome.wustl.edu 37 12 15811494 15811494 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 15811494 15811494 T C SNP EPS8 ENST00000281172 human ensembl 74_37 -1 known silent c.963 p.K321 1.000 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 225 0 0 183 14 7.1066 STRAP 0 genome.wustl.edu 37 12 16035702 16035702 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 16035702 16035702 G A SNP STRAP ENST00000025399 human ensembl 74_37 +1 known missense c.61 p.A21T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 45 0 0 32 5 13.5135 ADIPOR2 0 genome.wustl.edu 37 12 1882031 1882031 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 1882031 1882031 T C SNP ADIPOR2 ENST00000357103 human ensembl 74_37 +1 known silent c.195 p.S65 0.946 NULL pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 116 0 0 90 7 7.21649 AEBP2 0 genome.wustl.edu 37 12 19593269 19593269 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 19593269 19593269 T C SNP AEBP2 ENST00000398864 human ensembl 74_37 +1 known silent c.636 p.D212 0.987 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 41 0 0 37 6 13.9535 AEBP2 0 genome.wustl.edu 37 12 19615467 19615467 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 19615467 19615467 T C SNP AEBP2 ENST00000398864 human ensembl 74_37 +1 known missense c.695 p.V232A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 30 0 0 20 4 16.6667 AEBP2 0 genome.wustl.edu 37 12 19671029 19671029 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 19671029 19671029 C T SNP AEBP2 ENST00000398864 human ensembl 74_37 +1 known missense c.1490 p.P497L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 35 0 0 16 6 27.2727 CACNA2D4 0 genome.wustl.edu 37 12 1983839 1983839 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 1983839 1983839 C T SNP CACNA2D4 ENST00000382722 human ensembl 74_37 -1 known silent c.1809 p.L603 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D4 HGNC ENSG00000151062 59 0 0 46 5 9.80392 DCP1B 0 genome.wustl.edu 37 12 2055377 2055377 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 2055377 2055377 T C SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.1849 p.M617V 0.006 NULL pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 73 0 0 45 5 10 PDE3A 0 genome.wustl.edu 37 12 20803459 20803459 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 20803459 20803459 T C SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.2850 p.D950 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 112 0 0 66 8 10.8108 DCP1B 0 genome.wustl.edu 37 12 2102471 2102471 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 2102471 2102471 A T SNP DCP1B ENST00000280665 human ensembl 74_37 -1 known missense c.278 p.F93Y 1.000 pfam_DCP1 pfam_DCP1 - no_errors DCP1B HGNC ENSG00000151065 137 0 0 110 12 9.83607 SLCO1B3 0 genome.wustl.edu 37 12 21033815 21033815 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 21033815 21033815 A T SNP SLCO1B3 ENST00000553473 human ensembl 74_37 +1 known missense c.1358 p.D453V 0.388 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC ENSG00000111700 95 0 0 84 7 7.69231 SLCO1B7 0 genome.wustl.edu 37 12 21201738 21201738 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 21201738 21201738 T A SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known missense c.1228 p.L410M 0.869 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 42 0 0 25 3 10.7143 SLCO1B1 0 genome.wustl.edu 37 12 21327601 21327601 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 21327601 21327601 T A SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.317 p.I106N 0.015 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 96 0 0 54 5 8.47458 SLCO1B1 0 genome.wustl.edu 37 12 21377697 21377697 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 21377697 21377697 A G SNP SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known missense c.1789 p.T597A 0.264 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B1 HGNC ENSG00000134538 139 0 0 96 6 5.88235 RECQL 0 genome.wustl.edu 37 12 21636379 21636379 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 21636379 21636379 T C SNP RECQL ENST00000421138 human ensembl 74_37 -1 known missense c.631 p.R211G 0.001 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC ENSG00000004700 97 0 0 59 7 10.6061 ABCC9 0 genome.wustl.edu 37 12 21981972 21981972 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 21981972 21981972 G A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3589 p.R1197C 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 98 0 0 82 7 7.86517 ABCC9 0 genome.wustl.edu 37 12 22069897 22069897 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 22069897 22069897 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.547 p.V183M 1.000 NULL 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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 302 0 0 209 24 10.3004 ABCC9 0 genome.wustl.edu 37 12 22078945 22078945 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 22078945 22078945 C T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.337 p.V113I 1.000 NULL 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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 131 1 0.757576 105 7 6.25 SOX5 0 genome.wustl.edu 37 12 23893932 23893932 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 23893932 23893932 C A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.610 p.G204C 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 61 0 0 59 12 16.9014 MIR920 0 genome.wustl.edu 37 12 24365362 24365362 + RNA SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 24365362 24365362 T G SNP MIR920 ENST00000401373 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR920 HGNC ENSG00000216192 126 0 0 117 10 7.87402 LINC00477 0 genome.wustl.edu 37 12 24736709 24736709 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 24736709 24736709 G T SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.122 - - - no_errors LINC00477 HGNC ENSG00000197503 84 0 0 78 5 6.0241 IQSEC3 0 genome.wustl.edu 37 12 247988 247988 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 247988 247988 G A SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.1459 p.D487N 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 26 0 0 25 5 16.6667 IFLTD1 0 genome.wustl.edu 37 12 25702341 25702341 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 25702341 25702341 T C SNP IFLTD1 ENST00000458174 human ensembl 74_37 -1 known missense c.229 p.S77G 0.218 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 67 0 0 63 8 11.2676 ITPR2 0 genome.wustl.edu 37 12 26571996 26571996 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 26571996 26571996 A G SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.7096 p.F2366L 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 74 0 0 52 16 23.5294 ITPR2 0 genome.wustl.edu 37 12 26709200 26709200 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 26709200 26709200 C T SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.4930 p.D1644N 0.992 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 187 0 0 160 23 12.5683 ITPR2 0 genome.wustl.edu 37 12 26864129 26864129 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 26864129 26864129 T A SNP ITPR2 ENST00000381340 human ensembl 74_37 -1 known missense c.928 p.T310S 0.999 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 61 0 0 34 3 8.10811 ASUN 0 genome.wustl.edu 37 12 27087529 27087529 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 27087529 27087529 A G SNP ASUN ENST00000261191 human ensembl 74_37 -1 known missense c.260 p.V87A 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 234 0 0 163 14 7.9096 TM7SF3 0 genome.wustl.edu 37 12 27143484 27143484 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 27143484 27143484 A G SNP TM7SF3 ENST00000343028 human ensembl 74_37 -1 known missense c.767 p.V256A 1.000 NULL NULL - no_errors TM7SF3 HGNC ENSG00000064115 97 0 0 90 7 7.21649 MED21 0 genome.wustl.edu 37 12 27179427 27179427 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 27179427 27179427 G T SNP MED21 ENST00000282892 human ensembl 74_37 +1 known missense c.117 p.Q39H 1.000 pfam_Mediator_Med21 pfam_Mediator_Med21 - no_errors MED21 HGNC ENSG00000152944 81 0 0 52 7 11.8644 CACNA1C 0 genome.wustl.edu 37 12 2774756 2774756 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 2774756 2774756 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.4408 p.L1470F 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 101 0 0 92 6 6.12245 FAR2 0 genome.wustl.edu 37 12 29485537 29485537 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 29485537 29485537 T C SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.1262 p.F421S 1.000 pfam_FAR pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 81 0 0 55 4 6.77966 OVCH1 0 genome.wustl.edu 37 12 29592296 29592296 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 29592296 29592296 T C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known missense c.3229 p.N1077D 0.005 NULL 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 34 0 0 21 3 12.5 OVCH1 0 genome.wustl.edu 37 12 29630380 29630380 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 29630380 29630380 T C SNP OVCH1 ENST00000318184 human ensembl 74_37 -1 known silent c.1140 p.P380 0.011 superfamily_CUB_dom,pfscan_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 124 0 0 105 6 5.40541 TMTC1 0 genome.wustl.edu 37 12 29665046 29665046 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 29665046 29665046 C G SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.2114 p.R705T 0.004 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 185 0 0 154 18 10.4651 IPO8 0 genome.wustl.edu 37 12 30805933 30805933 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 30805933 30805933 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.2042 p.V681A 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 107 0 0 78 10 11.3636 CAPRIN2 0 genome.wustl.edu 37 12 30882246 30882246 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 30882246 30882246 C T SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known missense c.1118 p.R373H 1.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 86 0 0 47 12 20.339 CAPRIN2 0 genome.wustl.edu 37 12 30887988 30887988 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 30887988 30887988 A G SNP CAPRIN2 ENST00000251071 human ensembl 74_37 -1 known silent c.723 p.N241 1.000 NULL pfam_Caprin-1_C,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CAPRIN2 HGNC ENSG00000110888 241 0 0 170 14 7.6087 SYT10 0 genome.wustl.edu 37 12 33592387 33592387 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 33592387 33592387 C T SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known missense c.71 p.C24Y 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 154 0 0 123 32 20.6452 TSPAN9 0 genome.wustl.edu 37 12 3388233 3388233 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 3388233 3388233 G A SNP TSPAN9 ENST00000011898 human ensembl 74_37 +1 known splice_site c.330+1 e3+1 1.000 - - - no_errors TSPAN9 HGNC ENSG00000011105 94 0 0 71 8 10.1266 KIF21A 0 genome.wustl.edu 37 12 39751199 39751199 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 39751199 39751199 T A SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.1256 p.N419I 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 122 0 0 75 5 6.25 LRRK2 0 genome.wustl.edu 37 12 40677882 40677882 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 40677882 40677882 C A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2447 p.S816Y 0.919 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 133 0 0 82 9 9.89011 CNTN1 0 genome.wustl.edu 37 12 41327636 41327636 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 41327636 41327636 A G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.941 p.N314S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 93 0 0 78 5 6.0241 CNTN1 0 genome.wustl.edu 37 12 41374737 41374737 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 41374737 41374737 A G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.1831 p.R611G 0.956 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 204 0 0 154 11 6.66667 PDZRN4 0 genome.wustl.edu 37 12 41961604 41961604 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 41961604 41961604 A G SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.1487 p.E496G 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 53 0 0 39 5 11.3636 GXYLT1 0 genome.wustl.edu 37 12 42512919 42512919 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 42512919 42512919 A G SNP GXYLT1 ENST00000398675 human ensembl 74_37 -1 known silent c.369 p.C123 1.000 NULL pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 133 0 0 80 9 10.1124 PPHLN1 0 genome.wustl.edu 37 12 42745851 42745851 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 42745851 42745851 A G SNP PPHLN1 ENST00000395568 human ensembl 74_37 +1 known silent c.237 p.G79 1.000 NULL NULL - no_errors PPHLN1 HGNC ENSG00000134283 58 0 0 51 4 7.27273 ADAMTS20 0 genome.wustl.edu 37 12 43846182 43846182 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 43846182 43846182 A G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.1974 p.C658 1.000 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 126 0 0 84 6 6.66667 TMEM117 0 genome.wustl.edu 37 12 44338087 44338087 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 44338087 44338087 T C SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.352 p.F118L 1.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 119 0 0 106 15 12.3967 TMEM117 0 genome.wustl.edu 37 12 44782428 44782428 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 44782428 44782428 G T SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known silent c.1518 p.T506 0.000 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 157 0 0 131 9 6.42857 C12orf4 0 genome.wustl.edu 37 12 4599042 4599042 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 4599042 4599042 A T SNP C12orf4 ENST00000261250 human ensembl 74_37 -1 known nonsense c.1590 p.Y530* 0.998 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC ENSG00000047621 96 0 0 72 7 8.86076 ARID2 0 genome.wustl.edu 37 12 46231180 46231180 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46231180 46231180 A T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.1100 p.D367V 1.000 superfamily_ARM-type_fold pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 153 0 0 80 25 23.8095 ARID2 0 genome.wustl.edu 37 12 46245033 46245033 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46245033 46245033 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known nonsense c.3127 p.Q1043* 0.998 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 117 0 0 94 8 7.84314 ARID2 0 genome.wustl.edu 37 12 46245055 46245055 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46245055 46245055 G C SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.3149 p.G1050A 0.990 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 139 0 0 102 7 6.42202 ARID2 0 genome.wustl.edu 37 12 46246402 46246402 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46246402 46246402 T C SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.4496 p.L1499P 0.946 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 125 0 0 112 6 5.08475 SCAF11 0 genome.wustl.edu 37 12 46320326 46320326 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46320326 46320326 T C SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.3158 p.E1053G 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 119 0 0 102 9 8.10811 SCAF11 0 genome.wustl.edu 37 12 46321589 46321589 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46321589 46321589 A G SNP SCAF11 ENST00000369367 human ensembl 74_37 -1 known missense c.1895 p.V632A 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 111 0 0 82 8 8.88889 RAD51AP1 0 genome.wustl.edu 37 12 4654960 4654960 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 4654960 4654960 T A SNP RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known silent c.222 p.G74 0.007 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 391 1 0.255102 295 18 5.7508 SLC38A2 0 genome.wustl.edu 37 12 46756850 46756850 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46756850 46756850 G A SNP SLC38A2 ENST00000256689 human ensembl 74_37 -1 known missense c.1133 p.A378V 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 74 0 0 59 7 10.6061 SLC38A2 0 genome.wustl.edu 37 12 46764393 46764393 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46764393 46764393 G T SNP SLC38A2 ENST00000256689 human ensembl 74_37 -1 known silent c.216 p.S72 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A2 HGNC ENSG00000134294 102 1 0.970874 72 5 6.49351 SLC38A4 0 genome.wustl.edu 37 12 47172470 47172470 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 47172470 47172470 C T SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.807 p.M269I 0.275 NULL pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 87 0 0 94 10 9.61538 AKAP3 0 genome.wustl.edu 37 12 4735822 4735822 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 4735822 4735822 G A SNP AKAP3 ENST00000228850 human ensembl 74_37 -1 known missense c.2246 p.P749L 0.004 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 121 0 0 115 10 8 COL2A1 0 genome.wustl.edu 37 12 48367266 48367266 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 48367266 48367266 A G SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.4388 p.I1463T 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 103 0 0 93 12 11.4286 COL2A1 0 genome.wustl.edu 37 12 48369119 48369119 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 48369119 48369119 G A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known silent c.3867 p.C1289 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 48 0 0 50 5 9.09091 SENP1 0 genome.wustl.edu 37 12 48442746 48442746 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 48442746 48442746 A G SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.1577 p.V526A 0.999 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 48 0 0 44 4 8.33333 SENP1 0 genome.wustl.edu 37 12 48457539 48457539 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 48457539 48457539 C T SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.1361 p.R454H 1.000 pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 77 0 0 67 4 5.6338 PFKM 0 genome.wustl.edu 37 12 48535570 48535570 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 48535570 48535570 A C SNP PFKM ENST00000312352 human ensembl 74_37 +1 known missense c.1460 p.K487T 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 155 0 0 121 29 19.3333 KCNA6 0 genome.wustl.edu 37 12 4919490 4919490 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 4919490 4919490 G A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known missense c.283 p.A95T 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,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_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 90 0 0 82 20 19.6078 DDX23 0 genome.wustl.edu 37 12 49224275 49224275 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49224275 49224275 G A SNP DDX23 ENST00000308025 human ensembl 74_37 -1 known missense c.2440 p.R814W 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX23 HGNC ENSG00000174243 66 0 0 48 16 25 FKBP11 0 genome.wustl.edu 37 12 49315835 49315835 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49315835 49315835 C T SNP FKBP11 ENST00000550765 human ensembl 74_37 -1 known missense c.538 p.A180T 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP11 HGNC ENSG00000134285 113 0 0 93 12 11.4286 KMT2D 0 genome.wustl.edu 37 12 49420243 49420243 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49420243 49420243 A G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15506 p.I5169T 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 35 0 0 46 6 11.5385 KMT2D 0 genome.wustl.edu 37 12 49420661 49420661 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49420661 49420661 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15088 p.R5030C 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 64 0 0 56 11 16.4179 DHH 0 genome.wustl.edu 37 12 49488108 49488108 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49488108 49488108 G A SNP DHH ENST00000266991 human ensembl 74_37 -1 known missense c.188 p.A63V 0.577 pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog - no_errors DHH HGNC ENSG00000139549 54 0 0 45 20 30.7692 TUBA1B 0 genome.wustl.edu 37 12 49523058 49523058 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49523058 49523058 G T SNP TUBA1B ENST00000336023 human ensembl 74_37 -1 known silent c.342 p.I114 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA1B HGNC ENSG00000123416 178 0 0 166 10 5.68182 TUBA1A 0 genome.wustl.edu 37 12 49579012 49579012 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49579012 49579012 G A SNP TUBA1A ENST00000301071 human ensembl 74_37 -1 known silent c.1137 p.S379 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Delta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA1A HGNC ENSG00000167552 70 0 0 61 6 8.95522 C1QL4 0 genome.wustl.edu 37 12 49726989 49726989 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49726989 49726989 C T SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known missense c.565 p.A189T 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 37 0 0 30 3 9.09091 KCNH3 0 genome.wustl.edu 37 12 49937785 49937785 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49937785 49937785 C T SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.911 p.T304I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 125 0 0 116 14 10.7692 KCNH3 0 genome.wustl.edu 37 12 49944111 49944111 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49944111 49944111 A G SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known silent c.1917 p.L639 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 73 0 0 71 4 5.33333 MCRS1 0 genome.wustl.edu 37 12 49953259 49953259 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49953259 49953259 G A SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.1102 p.R368W 1.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 66 0 0 80 9 10.1124 MCRS1 0 genome.wustl.edu 37 12 49958615 49958615 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49958615 49958615 G A SNP MCRS1 ENST00000357123 human ensembl 74_37 -1 known missense c.391 p.R131C 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 106 0 0 95 8 7.76699 FMNL3 0 genome.wustl.edu 37 12 50040738 50040738 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50040738 50040738 G A SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.2926 p.R976W 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 60 0 0 65 5 7.14286 FMNL3 0 genome.wustl.edu 37 12 50041555 50041555 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50041555 50041555 G A SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known silent c.2709 p.G903 0.334 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 64 0 0 47 4 7.84314 FMNL3 0 genome.wustl.edu 37 12 50044495 50044495 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50044495 50044495 C T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.1964 p.G655D 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 83 0 0 74 5 6.32911 NCKAP5L 0 genome.wustl.edu 37 12 50190678 50190678 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50190678 50190678 G C SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.965 p.A322G 0.941 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 23 0 0 20 9 31.0345 KCNA1 0 genome.wustl.edu 37 12 5020846 5020846 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 5020846 5020846 G A SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.302 p.R101H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 72 0 0 70 7 9.09091 KCNA1 0 genome.wustl.edu 37 12 5021176 5021176 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 5021176 5021176 T C SNP KCNA1 ENST00000382545 human ensembl 74_37 +1 known missense c.632 p.I211T 0.113 prints_K_chnl_volt-dep_Kv1.1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3 - no_errors KCNA1 HGNC ENSG00000111262 52 0 0 42 10 19.2308 FAIM2 0 genome.wustl.edu 37 12 50291301 50291301 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50291301 50291301 C T SNP FAIM2 ENST00000320634 human ensembl 74_37 -1 known splice_site c.380+1 e4+1 1.000 - - - no_errors FAIM2 HGNC ENSG00000135472 45 0 0 29 6 17.1429 RACGAP1 0 genome.wustl.edu 37 12 50399142 50399142 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50399142 50399142 T C SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known missense c.322 p.M108V 1.000 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 72 0 0 59 6 9.23077 ASIC1 0 genome.wustl.edu 37 12 50475044 50475044 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50475044 50475044 T C SNP ASIC1 ENST00000228468 human ensembl 74_37 +1 known missense c.1517 p.V506A 1.000 NULL pfam_Na+channel_ASC,prints_Na+channel_ASC - no_errors ASIC1 HGNC ENSG00000110881 15 0 0 11 2 15.3846 DIP2B 0 genome.wustl.edu 37 12 51086792 51086792 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 51086792 51086792 T C SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.1715 p.F572S 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 86 0 0 77 5 6.09756 KCNA5 0 genome.wustl.edu 37 12 5153531 5153531 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 5153531 5153531 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.218 p.P73L 0.054 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 8 0 0 3 3 50 KCNA5 0 genome.wustl.edu 37 12 5154130 5154130 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 5154130 5154130 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.817 p.P273S 1.000 prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 113 0 0 99 19 16.1017 KCNA5 0 genome.wustl.edu 37 12 5154984 5154984 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 5154984 5154984 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known silent c.1671 p.S557 0.871 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 35 0 0 35 11 23.913 SCN8A 0 genome.wustl.edu 37 12 52078069 52078069 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52078069 52078069 A T SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.388 p.I130L 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 72 0 0 47 4 7.84314 ACVRL1 0 genome.wustl.edu 37 12 52308233 52308233 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52308233 52308233 C T SNP ACVRL1 ENST00000550683 human ensembl 74_37 +1 known silent c.678 p.R226 0.985 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 57 0 0 42 3 6.66667 GRASP 0 genome.wustl.edu 37 12 52407946 52407946 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52407946 52407946 T C SNP GRASP ENST00000293662 human ensembl 74_37 +1 known missense c.643 p.Y215H 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRASP HGNC ENSG00000161835 13 0 0 14 4 22.2222 KRT6B 0 genome.wustl.edu 37 12 52841348 52841348 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52841348 52841348 G A SNP KRT6B ENST00000252252 human ensembl 74_37 -1 known silent c.1434 p.G478 0.786 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 57 0 0 39 17 30.3571 KRT6C 0 genome.wustl.edu 37 12 52865209 52865209 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52865209 52865209 T C SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known missense c.908 p.D303G 0.995 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 96 0 0 103 13 11.2069 KRT6C 0 genome.wustl.edu 37 12 52865984 52865984 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52865984 52865984 C T SNP KRT6C ENST00000252250 human ensembl 74_37 -1 known silent c.621 p.R207 0.385 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6C HGNC ENSG00000170465 80 0 0 62 10 13.8889 KRT6A 0 genome.wustl.edu 37 12 52884922 52884922 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52884922 52884922 C T SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.790 p.E264K 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 104 0 0 78 8 9.30233 KRT2 0 genome.wustl.edu 37 12 53040608 53040608 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53040608 53040608 T C SNP KRT2 ENST00000309680 human ensembl 74_37 -1 known missense c.1385 p.D462G 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT2 HGNC ENSG00000172867 122 0 0 109 8 6.83761 KRT77 0 genome.wustl.edu 37 12 53086570 53086570 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53086570 53086570 A C SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known missense c.1175 p.L392R 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 55 0 0 53 8 13.1148 KRT76 0 genome.wustl.edu 37 12 53165877 53165877 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53165877 53165877 C T SNP KRT76 ENST00000332411 human ensembl 74_37 -1 known splice_site c.1137+1 e5+1 1.000 - - - no_errors KRT76 HGNC ENSG00000185069 51 0 0 62 4 6.06061 KRT79 0 genome.wustl.edu 37 12 53227765 53227765 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53227765 53227765 C T SNP KRT79 ENST00000330553 human ensembl 74_37 -1 known missense c.280 p.A94T 0.006 NULL pfam_IF,superfamily_STAT_TF_coiled-coil,prints_Keratin_II - no_errors KRT79 HGNC ENSG00000185640 35 0 0 33 6 15.3846 MFSD5 0 genome.wustl.edu 37 12 53647656 53647656 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53647656 53647656 C T SNP MFSD5 ENST00000534842 human ensembl 74_37 +1 known missense c.1358 p.A453V 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 144 0 0 116 9 7.2 MAP3K12 0 genome.wustl.edu 37 12 53879982 53879982 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53879982 53879982 C T SNP MAP3K12 ENST00000267079 human ensembl 74_37 -1 known missense c.580 p.A194T 1.000 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K12 HGNC ENSG00000139625 51 0 0 38 6 13.6364 TARBP2 0 genome.wustl.edu 37 12 53899798 53899798 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53899798 53899798 T C SNP TARBP2 ENST00000266987 human ensembl 74_37 +1 known missense c.967 p.C323R 1.000 smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 52 0 0 47 3 6 TARBP2 0 genome.wustl.edu 37 12 53899914 53899914 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53899914 53899914 C T SNP TARBP2 ENST00000266987 human ensembl 74_37 +1 known silent c.1083 p.I361 1.000 pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 56 0 0 25 12 32.4324 NPFF 0 genome.wustl.edu 37 12 53901178 53901178 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 53901178 53901178 C A SNP NPFF ENST00000267017 human ensembl 74_37 -1 known missense c.81 p.Q27H 0.000 pirsf_FMRFamid-related_peptide pirsf_FMRFamid-related_peptide,prints_FMRFamid-related_peptide - no_errors NPFF HGNC ENSG00000139574 68 0 0 59 8 11.9403 ATP5G2 0 genome.wustl.edu 37 12 54063713 54063713 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 54063713 54063713 A G SNP ATP5G2 ENST00000394349 human ensembl 74_37 -1 known missense c.230 p.L77P 1.000 NULL pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu - no_errors ATP5G2 HGNC ENSG00000135390 78 0 0 77 5 6.09756 HOXC12 0 genome.wustl.edu 37 12 54348796 54348796 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 54348796 54348796 A G SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known missense c.83 p.N28S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 25 0 0 27 3 10 ITGA5 0 genome.wustl.edu 37 12 54797044 54797044 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 54797044 54797044 G A SNP ITGA5 ENST00000293379 human ensembl 74_37 -1 known missense c.1841 p.P614L 0.841 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA5 HGNC ENSG00000161638 206 0 0 201 15 6.94444 NCKAP1L 0 genome.wustl.edu 37 12 54922129 54922129 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 54922129 54922129 A T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.2474 p.N825I 0.997 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 150 0 0 144 16 10 PDE1B 0 genome.wustl.edu 37 12 54968964 54968964 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 54968964 54968964 C T SNP PDE1B ENST00000243052 human ensembl 74_37 +1 known missense c.1147 p.R383C 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1B HGNC ENSG00000123360 92 0 0 91 21 18.75 PPP1R1A 0 genome.wustl.edu 37 12 54974788 54974788 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 54974788 54974788 T C SNP PPP1R1A ENST00000547431 human ensembl 74_37 -1 novel missense c.230 p.N77S 0.548 pfam_PPI_1DARPP-32 pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 235 0 0 212 15 6.60793 OR6C74 0 genome.wustl.edu 37 12 55641092 55641092 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 55641092 55641092 A G SNP OR6C74 ENST00000343870 human ensembl 74_37 +1 known silent c.21 p.V7 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 149 0 0 112 12 9.67742 OR6C74 0 genome.wustl.edu 37 12 55641717 55641717 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 55641717 55641717 T C SNP OR6C74 ENST00000343870 human ensembl 74_37 +1 known missense c.646 p.Y216H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 90 0 0 76 6 7.31707 OR6C1 0 genome.wustl.edu 37 12 55714599 55714599 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 55714599 55714599 A C SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known silent c.216 p.T72 0.999 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 OR6C1 HGNC ENSG00000205330 78 0 0 63 8 11.2676 OR6C1 0 genome.wustl.edu 37 12 55715169 55715169 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 55715169 55715169 A G SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known silent c.786 p.A262 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 144 0 0 117 9 7.14286 OR6C1 0 genome.wustl.edu 37 12 55715233 55715233 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 55715233 55715233 A G SNP OR6C1 ENST00000379668 human ensembl 74_37 +1 known missense c.850 p.N284D 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C1 HGNC ENSG00000205330 168 0 0 110 28 20.2899 BLOC1S1 0 genome.wustl.edu 37 12 56112932 56112932 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56112932 56112932 G T SNP BLOC1S1 ENST00000548925 human ensembl 74_37 +1 known missense c.276 p.Q92H 1.000 pfam_GCN5L1 pfam_GCN5L1 - no_errors BLOC1S1 HGNC ENSG00000135441 33 0 0 40 5 11.1111 RDH5 0 genome.wustl.edu 37 12 56115638 56115638 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56115638 56115638 T A SNP RDH5 ENST00000257895 human ensembl 74_37 +1 known missense c.476 p.I159N 0.993 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH5 HGNC ENSG00000135437 36 0 0 41 5 10.8696 RAB5B 0 genome.wustl.edu 37 12 56384499 56384499 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56384499 56384499 G A SNP RAB5B ENST00000360299 human ensembl 74_37 +1 known missense c.349 p.E117K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5B HGNC ENSG00000111540 190 0 0 178 21 10.5528 ERBB3 0 genome.wustl.edu 37 12 56478899 56478899 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56478899 56478899 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.355 p.V119I 0.950 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 149 0 0 113 27 19.2857 ESYT1 0 genome.wustl.edu 37 12 56526307 56526307 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56526307 56526307 C T SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.1087 p.R363C 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 119 0 0 96 13 11.9266 ESYT1 0 genome.wustl.edu 37 12 56530569 56530569 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56530569 56530569 G A SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known silent c.1704 p.T568 0.278 superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 55 0 0 54 5 8.47458 SLC39A5 0 genome.wustl.edu 37 12 56625260 56625260 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56625260 56625260 G T SNP SLC39A5 ENST00000266980 human ensembl 74_37 +1 known missense c.202 p.G68C 1.000 NULL pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 67 0 0 93 10 9.70874 PAN2 0 genome.wustl.edu 37 12 56719213 56719213 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56719213 56719213 T C SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.1385 p.D462G 1.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 191 0 0 144 14 8.86076 TIMELESS 0 genome.wustl.edu 37 12 56811707 56811707 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56811707 56811707 A G SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.3540 p.D1180 0.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 203 0 0 173 21 10.8247 TIMELESS 0 genome.wustl.edu 37 12 56822332 56822332 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56822332 56822332 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known splice_site c.1408+1 e11+1 1.000 - - - no_errors TIMELESS HGNC ENSG00000111602 48 0 0 28 12 30 NACA 0 genome.wustl.edu 37 12 57113163 57113163 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57113163 57113163 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.2151 p.T717 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 36 0 0 17 6 26.087 ANO2 0 genome.wustl.edu 37 12 5744509 5744509 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 5744509 5744509 G A SNP ANO2 ENST00000356134 human ensembl 74_37 -1 known missense c.1628 p.A543V 0.996 pfam_Anoctamin pfam_Anoctamin - no_errors ANO2 HGNC ENSG00000047617 37 0 0 35 8 18.6047 TMEM194A 0 genome.wustl.edu 37 12 57466637 57466637 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57466637 57466637 G A SNP TMEM194A ENST00000300128 human ensembl 74_37 -1 known silent c.186 p.A62 0.005 NULL pfam_TMEM194 - no_errors TMEM194A HGNC ENSG00000166881 104 0 0 69 17 19.7674 LRP1 0 genome.wustl.edu 37 12 57550055 57550055 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57550055 57550055 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.1406 p.R469H 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 52 0 0 33 8 19.5122 LRP1 0 genome.wustl.edu 37 12 57553773 57553773 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57553773 57553773 T C SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.1964 p.V655A 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 38 0 0 26 5 16.129 LRP1 0 genome.wustl.edu 37 12 57561277 57561277 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57561277 57561277 T C SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.2965 p.C989R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 95 0 0 101 10 9.00901 LRP1 0 genome.wustl.edu 37 12 57573210 57573210 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57573210 57573210 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.4837 p.D1613N 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 41 0 0 41 6 12.766 STAC3 0 genome.wustl.edu 37 12 57638744 57638744 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57638744 57638744 G A SNP STAC3 ENST00000557176 human ensembl 74_37 -1 known missense c.50 p.T17I 0.999 NULL NULL - no_errors STAC3 HGNC ENSG00000185482 148 0 0 144 9 5.88235 STAC3 0 genome.wustl.edu 37 12 57638988 57638988 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57638988 57638988 C A SNP STAC3 ENST00000332782 human ensembl 74_37 -1 known missense c.610 p.A204S 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox - no_errors STAC3 HGNC ENSG00000185482 118 0 0 110 7 5.98291 GLI1 0 genome.wustl.edu 37 12 57865375 57865375 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57865375 57865375 G A SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.2852 p.G951D 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 71 0 0 58 15 20.5479 MARS 0 genome.wustl.edu 37 12 57908808 57908808 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57908808 57908808 C T SNP MARS ENST00000262027 human ensembl 74_37 +1 known missense c.2171 p.P724L 1.000 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Met-tRNA_synth pfam_Methionyl/Leucyl_tRNA_Synth,pfam_WHEP-TRS,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_S15_NS1_RNA-bd,superfamily_Thioredoxin-like_fold,pfscan_WHEP-TRS,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth - no_errors MARS HGNC ENSG00000166986 64 0 0 63 9 12.5 KIF5A 0 genome.wustl.edu 37 12 57963431 57963431 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57963431 57963431 C T SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known missense c.1082 p.A361V 0.994 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5A HGNC ENSG00000155980 60 0 0 56 9 13.8462 PIP4K2C 0 genome.wustl.edu 37 12 57994595 57994595 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 57994595 57994595 T C SNP PIP4K2C ENST00000354947 human ensembl 74_37 +1 known missense c.815 p.F272S 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2C HGNC ENSG00000166908 321 0 0 339 31 8.37838 OS9 0 genome.wustl.edu 37 12 58109590 58109590 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 58109590 58109590 C T SNP OS9 ENST00000315970 human ensembl 74_37 +1 known silent c.627 p.R209 0.000 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors OS9 HGNC ENSG00000135506 64 0 0 47 5 9.61538 METTL21B 0 genome.wustl.edu 37 12 58174222 58174222 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 58174222 58174222 C A SNP METTL21B ENST00000300209 human ensembl 74_37 +1 known silent c.474 p.T158 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL21B HGNC ENSG00000123427 57 0 0 60 6 9.09091 LRIG3 0 genome.wustl.edu 37 12 59282123 59282123 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 59282123 59282123 T G SNP LRIG3 ENST00000320743 human ensembl 74_37 -1 known missense c.935 p.K312T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG3 HGNC ENSG00000139263 93 0 0 79 6 7.05882 MON2 0 genome.wustl.edu 37 12 62949898 62949898 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 62949898 62949898 C T SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.3338 p.A1113V 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 61 0 0 44 9 16.9811 CD9 0 genome.wustl.edu 37 12 6344710 6344710 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6344710 6344710 A G SNP CD9 ENST00000009180 human ensembl 74_37 +1 known silent c.516 p.V172 0.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD9 HGNC ENSG00000010278 46 0 0 52 3 5.45455 TNFRSF1A 0 genome.wustl.edu 37 12 6438737 6438737 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6438737 6438737 C T SNP TNFRSF1A ENST00000162749 human ensembl 74_37 -1 known missense c.1109 p.R370H 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC ENSG00000067182 15 0 0 13 5 27.7778 C12orf56 0 genome.wustl.edu 37 12 64746772 64746772 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 64746772 64746772 A G SNP C12orf56 ENST00000333722 human ensembl 74_37 -1 known missense c.317 p.I106T 0.900 NULL NULL - no_errors C12orf56 HGNC ENSG00000185306 138 0 0 74 10 11.9048 TBK1 0 genome.wustl.edu 37 12 64878159 64878159 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 64878159 64878159 C T SNP TBK1 ENST00000331710 human ensembl 74_37 +1 known nonsense c.1069 p.R357* 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 TBK1 HGNC ENSG00000183735 74 0 0 47 5 9.61538 TBK1 0 genome.wustl.edu 37 12 64891510 64891510 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 64891510 64891510 A G SNP TBK1 ENST00000331710 human ensembl 74_37 +1 known missense c.2042 p.N681S 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 TBK1 HGNC ENSG00000183735 63 0 0 51 3 5.55556 GNS 0 genome.wustl.edu 37 12 65110533 65110533 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 65110533 65110533 T G SNP GNS ENST00000258145 human ensembl 74_37 -1 known missense c.1647 p.K549N 0.628 pirsf_GlcNAc_6-SO4ase pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase - no_errors GNS HGNC ENSG00000135677 70 0 0 49 4 7.54717 VAMP1 0 genome.wustl.edu 37 12 6574081 6574081 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6574081 6574081 A G SNP VAMP1 ENST00000396308 human ensembl 74_37 -1 known silent c.315 p.C105 0.994 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,prints_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP1 HGNC ENSG00000139190 181 0 0 154 13 7.78443 NCAPD2 0 genome.wustl.edu 37 12 6639009 6639009 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6639009 6639009 G A SNP NCAPD2 ENST00000315579 human ensembl 74_37 +1 known missense c.3722 p.R1241H 0.973 pirsf_Condensin_cplx_su1 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Condensin_cplx_su1 - no_errors NCAPD2 HGNC ENSG00000010292 112 0 0 78 23 22.7723 IFFO1 0 genome.wustl.edu 37 12 6664471 6664471 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6664471 6664471 T C SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known missense c.725 p.Y242C 1.000 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 104 0 0 96 9 8.57143 CHD4 0 genome.wustl.edu 37 12 6692213 6692213 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6692213 6692213 T C SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.4211 p.D1404G 1.000 pfam_DUF1086 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 83 0 0 81 11 11.9565 CHD4 0 genome.wustl.edu 37 12 6696652 6696652 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6696652 6696652 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.3777 p.D1259 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 188 0 0 158 12 7.05882 MDM2 0 genome.wustl.edu 37 12 69202995 69202995 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 69202995 69202995 T C SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known missense c.22 p.C8R 1.000 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 489 0 0 351 31 8.11518 CD4 0 genome.wustl.edu 37 12 6928489 6928489 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6928489 6928489 C A SNP CD4 ENST00000011653 human ensembl 74_37 +1 known silent c.1371 p.P457 0.001 NULL pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 140 0 0 142 11 7.18954 CPSF6 0 genome.wustl.edu 37 12 69652831 69652831 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 69652831 69652831 C T SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known nonsense c.1267 p.R423* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 77 0 0 59 24 28.9157 USP5 0 genome.wustl.edu 37 12 6972414 6972414 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6972414 6972414 C T SNP USP5 ENST00000229268 human ensembl 74_37 +1 known silent c.1827 p.P609 0.003 pfam_Peptidase_C19/C67,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 56 0 0 61 5 7.57576 LYZ 0 genome.wustl.edu 37 12 69742245 69742245 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 69742245 69742245 G T SNP LYZ ENST00000261267 human ensembl 74_37 +1 known missense c.57 p.K19N 0.964 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22 pfam_Glyco_hydro_22,pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22_lys,prints_Glyco_hydro_22 - no_errors LYZ HGNC ENSG00000090382 90 0 0 68 8 10.5263 SPSB2 0 genome.wustl.edu 37 12 6981914 6981914 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6981914 6981914 T C SNP SPSB2 ENST00000523102 human ensembl 74_37 -1 known missense c.152 p.K51R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB2 HGNC ENSG00000111671 101 0 0 129 8 5.83942 FRS2 0 genome.wustl.edu 37 12 69968696 69968696 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 69968696 69968696 T C SNP FRS2 ENST00000299293 human ensembl 74_37 +1 known silent c.1488 p.S496 0.997 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS2 HGNC ENSG00000166225 115 0 0 81 8 8.98876 RAB3IP 0 genome.wustl.edu 37 12 70149411 70149411 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 70149411 70149411 T C SNP RAB3IP ENST00000550536 human ensembl 74_37 +1 known silent c.271 p.L91 0.796 NULL pfam_Sec2p - no_errors RAB3IP HGNC ENSG00000127328 90 0 0 73 4 5.19481 LRRC23 0 genome.wustl.edu 37 12 7015022 7015022 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7015022 7015022 C T SNP LRRC23 ENST00000007969 human ensembl 74_37 +1 known missense c.140 p.P47L 0.995 NULL pfam_Leu-rich_rpt - no_errors LRRC23 HGNC ENSG00000010626 78 0 0 79 7 8.13953 ATN1 0 genome.wustl.edu 37 12 7043403 7043403 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7043403 7043403 G A SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.92 p.G31D 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 80 0 0 65 4 5.7971 ATN1 0 genome.wustl.edu 37 12 7046281 7046281 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7046281 7046281 C T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known silent c.1851 p.V617 0.954 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 74 0 0 86 5 5.49451 ATN1 0 genome.wustl.edu 37 12 7047957 7047957 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7047957 7047957 A G SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.2831 p.D944G 1.000 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 64 0 0 71 9 11.25 PHB2 0 genome.wustl.edu 37 12 7079581 7079581 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7079581 7079581 G A SNP PHB2 ENST00000399433 human ensembl 74_37 -1 known silent c.126 p.T42 0.854 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 29 0 0 22 8 26.6667 LPCAT3 0 genome.wustl.edu 37 12 7087608 7087608 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7087608 7087608 T G SNP LPCAT3 ENST00000261407 human ensembl 74_37 -1 known missense c.935 p.K312T 0.107 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 119 0 0 130 9 6.47482 PTPRR 0 genome.wustl.edu 37 12 71050594 71050594 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 71050594 71050594 T A SNP PTPRR ENST00000283228 human ensembl 74_37 -1 known silent c.1770 p.A590 0.886 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRR HGNC ENSG00000153233 136 0 0 94 9 8.73786 ZFC3H1 0 genome.wustl.edu 37 12 72024378 72024378 + Splice_Site SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 72024378 72024378 A C SNP ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known splice_site c.3724+2 e18+2 1.000 - - - no_errors ZFC3H1 HGNC ENSG00000133858 64 0 0 47 5 9.61538 TBC1D15 0 genome.wustl.edu 37 12 72265950 72265950 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 72265950 72265950 T C SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known splice_site c.129+2 e2+2 1.000 - - - no_errors TBC1D15 HGNC ENSG00000121749 129 0 0 64 6 8.57143 TRHDE 0 genome.wustl.edu 37 12 72667178 72667178 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 72667178 72667178 G T SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.620 p.G207V 0.995 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 65 0 0 75 8 9.63855 CLSTN3 0 genome.wustl.edu 37 12 7289485 7289485 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7289485 7289485 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.989 p.A330V 0.050 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 214 1 0.465116 162 49 23.2227 CLSTN3 0 genome.wustl.edu 37 12 7290632 7290632 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7290632 7290632 G A SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known missense c.1292 p.R431H 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 70 0 0 60 5 7.69231 CLSTN3 0 genome.wustl.edu 37 12 7295559 7295559 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7295559 7295559 C T SNP CLSTN3 ENST00000266546 human ensembl 74_37 +1 known silent c.1635 p.C545 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC ENSG00000139182 39 0 0 49 6 10.9091 PEX5 0 genome.wustl.edu 37 12 7361760 7361760 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7361760 7361760 T C SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known silent c.1599 p.R533 0.991 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 81 0 0 70 6 7.89474 KCNC2 0 genome.wustl.edu 37 12 75444651 75444651 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 75444651 75444651 A G SNP KCNC2 ENST00000549446 human ensembl 74_37 -1 known silent c.1134 p.S378 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_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 81 0 0 50 4 7.40741 CD163L1 0 genome.wustl.edu 37 12 7585081 7585081 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7585081 7585081 T A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.697 p.N233Y 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 89 0 0 67 4 5.6338 CD163 0 genome.wustl.edu 37 12 7653746 7653746 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7653746 7653746 A G SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.446 p.V149A 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 367 0 0 240 23 8.74525 OSBPL8 0 genome.wustl.edu 37 12 76772266 76772266 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 76772266 76772266 A T SNP OSBPL8 ENST00000261183 human ensembl 74_37 -1 known missense c.1695 p.D565E 0.995 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL8 HGNC ENSG00000091039 262 0 0 176 10 5.37634 CSRP2 0 genome.wustl.edu 37 12 77259935 77259935 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 77259935 77259935 G C SNP CSRP2 ENST00000311083 human ensembl 74_37 -1 known missense c.106 p.L36V 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC ENSG00000175183 44 0 0 45 4 8.16327 E2F7 0 genome.wustl.edu 37 12 77449736 77449736 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 77449736 77449736 G T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.268 p.L90I 1.000 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 165 0 0 162 16 8.98876 E2F7 0 genome.wustl.edu 37 12 77449893 77449893 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 77449893 77449893 A T SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known missense c.111 p.D37E 0.987 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 105 0 0 62 6 8.82353 APOBEC1 0 genome.wustl.edu 37 12 7805322 7805322 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 7805322 7805322 G A SNP APOBEC1 ENST00000229304 human ensembl 74_37 -1 known nonsense c.154 p.R52* 0.727 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 75 0 0 52 6 10.3448 NAV3 0 genome.wustl.edu 37 12 78400965 78400965 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 78400965 78400965 A G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known silent c.1647 p.K549 0.993 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 77 0 0 62 7 10.1449 NAV3 0 genome.wustl.edu 37 12 78516145 78516145 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 78516145 78516145 G A SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.4175 p.G1392D 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 92 0 0 86 9 9.47368 NAV3 0 genome.wustl.edu 37 12 78570943 78570943 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 78570943 78570943 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.5147 p.A1716V 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 139 0 0 92 8 8 MIR1252 0 genome.wustl.edu 37 12 79813047 79813047 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 79813047 79813047 A G SNP MIR1252 ENST00000408861 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR1252 HGNC ENSG00000221788 35 0 0 28 5 15.1515 OTOGL 0 genome.wustl.edu 37 12 80750253 80750253 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 80750253 80750253 T C SNP OTOGL ENST00000458043 human ensembl 74_37 +1 known missense c.5837 p.L1946S 0.722 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,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 OTOGL HGNC ENSG00000165899 144 0 0 103 20 16.2602 FOXJ2 0 genome.wustl.edu 37 12 8203211 8203211 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 8203211 8203211 G A SNP FOXJ2 ENST00000162391 human ensembl 74_37 +1 known missense c.1631 p.R544H 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC ENSG00000065970 90 0 0 72 7 8.86076 C3AR1 0 genome.wustl.edu 37 12 8212130 8212130 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 8212130 8212130 T C SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.652 p.T218A 0.000 pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 133 0 0 97 11 10.1852 TMTC2 0 genome.wustl.edu 37 12 83251004 83251004 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 83251004 83251004 G A SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.299 p.G100D 0.995 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 145 0 0 126 7 5.26316 TMTC2 0 genome.wustl.edu 37 12 83526060 83526060 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 83526060 83526060 C T SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known silent c.2403 p.N801 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom 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 52 0 0 46 4 8 LOC101927905 0 genome.wustl.edu 37 12 8391334 8391334 + RNA SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 8391334 8391334 A T SNP LOC101927905 ENST00000304751 human ensembl 74_37 +1 known rna NULL NULL 0.977 - - - no_errors RP11-266K4.9 Clone_based_vega_gene ENSG00000215241 44 0 0 43 4 8.51064 LRRIQ1 0 genome.wustl.edu 37 12 85449486 85449486 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 85449486 85449486 A G SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.915 p.P305 0.140 pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 86 0 0 51 5 8.92857 WNK1 0 genome.wustl.edu 37 12 863056 863056 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 863056 863056 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.325 p.A109T 0.186 NULL pfam_Prot_kinase_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_dom - no_errors WNK1 HGNC ENSG00000060237 15 0 0 18 3 14.2857 CEP290 0 genome.wustl.edu 37 12 88454773 88454773 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 88454773 88454773 T C SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known splice_site c.6364-2 e46-2 0.997 - - - no_errors CEP290 HGNC ENSG00000198707 20 0 0 8 2 20 CEP290 0 genome.wustl.edu 37 12 88483134 88483134 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 88483134 88483134 T A SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.3710 p.N1237I 0.944 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 80 0 0 56 4 6.66667 CEP290 0 genome.wustl.edu 37 12 88483141 88483141 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 88483141 88483141 C T SNP CEP290 ENST00000309041 human ensembl 74_37 -1 known missense c.3703 p.A1235T 0.996 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 73 0 0 53 4 7.01754 TMTC3 0 genome.wustl.edu 37 12 88584371 88584371 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 88584371 88584371 C T SNP TMTC3 ENST00000266712 human ensembl 74_37 +1 known missense c.1678 p.P560S 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 95 0 0 60 4 6.25 RIMKLB 0 genome.wustl.edu 37 12 8866566 8866566 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 8866566 8866566 G T SNP RIMKLB ENST00000357529 human ensembl 74_37 +1 known missense c.104 p.C35F 1.000 tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLB HGNC ENSG00000166532 91 0 0 63 4 5.97015 A2ML1 0 genome.wustl.edu 37 12 8990998 8990998 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 8990998 8990998 T C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.922 p.Y308H 0.003 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 132 0 0 113 13 10.3175 GALNT4 0 genome.wustl.edu 37 12 89917932 89917932 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 89917932 89917932 C A SNP GALNT4 ENST00000529983 human ensembl 74_37 -1 known missense c.395 p.R132M 0.174 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 76 0 0 74 11 12.9412 ATP2B1 0 genome.wustl.edu 37 12 89997947 89997947 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 89997947 89997947 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known silent c.2619 p.G873 0.934 tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 73 0 0 48 11 18.6441 A2ML1 0 genome.wustl.edu 37 12 9004515 9004515 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 9004515 9004515 C T SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known silent c.2370 p.F790 1.000 pfam_Macroglobln_a2,pfam_SV_autoAg pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 176 0 0 151 8 5.03145 ATP2B1 0 genome.wustl.edu 37 12 90049575 90049575 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 90049575 90049575 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.89 p.T30M 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 113 0 0 71 9 11.25 PHC1 0 genome.wustl.edu 37 12 9089499 9089499 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 9089499 9089499 T A SNP PHC1 ENST00000543824 human ensembl 74_37 +1 known missense c.2416 p.Y806N 1.000 pfam_Znf_MYM,pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 31 0 0 27 5 15.625 DCN 0 genome.wustl.edu 37 12 91539849 91539849 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 91539849 91539849 C T SNP DCN ENST00000052754 human ensembl 74_37 -1 known missense c.1066 p.G356R 1.000 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors DCN HGNC ENSG00000011465 112 0 0 76 20 20.8333 A2M 0 genome.wustl.edu 37 12 9221379 9221379 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 9221379 9221379 A T SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.4323 p.D1441E 0.995 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 29 0 0 30 5 14.2857 A2M 0 genome.wustl.edu 37 12 9262545 9262545 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 9262545 9262545 C A SNP A2M ENST00000318602 human ensembl 74_37 -1 known missense c.591 p.E197D 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 202 0 0 161 16 9.03955 PZP 0 genome.wustl.edu 37 12 9316284 9316284 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 9316284 9316284 T C SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.2716 p.I906V 0.986 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 95 0 0 73 7 8.75 TMCC3 0 genome.wustl.edu 37 12 94975728 94975728 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 94975728 94975728 T C SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.665 p.H222R 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 110 0 0 92 8 8 VEZT 0 genome.wustl.edu 37 12 95656842 95656842 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 95656842 95656842 C T SNP VEZT ENST00000436874 human ensembl 74_37 +1 known missense c.419 p.A140V 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 297 1 0.33557 195 47 19.4215 VEZT 0 genome.wustl.edu 37 12 95668625 95668625 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 95668625 95668625 C T SNP VEZT ENST00000436874 human ensembl 74_37 +1 known missense c.956 p.A319V 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 148 0 0 128 7 5.18519 CCDC38 0 genome.wustl.edu 37 12 96288811 96288811 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 96288811 96288811 G A SNP CCDC38 ENST00000344280 human ensembl 74_37 -1 known missense c.728 p.A243V 0.000 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 221 0 0 135 11 7.53425 WNK1 0 genome.wustl.edu 37 12 968488 968488 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 968488 968488 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.1478 p.D493G 1.000 NULL pfam_Prot_kinase_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_dom - no_errors WNK1 HGNC ENSG00000060237 120 0 0 84 5 5.61798 WNK1 0 genome.wustl.edu 37 12 977470 977470 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 977470 977470 C T SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.2833 p.R945W 1.000 NULL pfam_Prot_kinase_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_dom - no_errors WNK1 HGNC ENSG00000060237 16 0 0 16 6 27.2727 TMPO 0 genome.wustl.edu 37 12 98927983 98927983 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 98927983 98927983 C T SNP TMPO ENST00000266732 human ensembl 74_37 +1 known missense c.1948 p.R650C 0.972 pfam_LAP2alpha pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 224 0 0 186 16 7.92079 TMPO 0 genome.wustl.edu 37 12 98928112 98928112 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 98928112 98928112 A T SNP TMPO ENST00000266732 human ensembl 74_37 +1 known nonsense c.2077 p.K693* 0.282 pfam_LAP2alpha pfam_LAP2alpha,pfam_LEM-like_dom,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom,pfscan_LEM-like_dom - no_errors TMPO HGNC ENSG00000120802 225 0 0 141 18 11.3208 WNK1 0 genome.wustl.edu 37 12 994674 994674 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 994674 994674 T A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.6198 p.H2066Q 1.000 NULL pfam_Prot_kinase_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_dom - no_errors WNK1 HGNC ENSG00000060237 364 0 0 377 38 9.15663 ZIC5 0 genome.wustl.edu 37 13 100617835 100617835 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 100617835 100617835 G A SNP ZIC5 ENST00000267294 human ensembl 74_37 -1 known silent c.1788 p.G596 0.940 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC5 HGNC ENSG00000139800 111 0 0 104 6 5.45455 PCCA 0 genome.wustl.edu 37 13 100959498 100959498 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 100959498 100959498 A T SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.1337 p.D446V 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 64 0 0 41 6 12.766 TMTC4 0 genome.wustl.edu 37 13 101277794 101277794 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 101277794 101277794 G A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1831 p.R611C 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 73 0 0 70 16 18.6047 TMTC4 0 genome.wustl.edu 37 13 101287129 101287129 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 101287129 101287129 C A SNP TMTC4 ENST00000342624 human ensembl 74_37 -1 known missense c.1436 p.R479L 1.000 pfscan_TPR-contain_dom pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC4 HGNC ENSG00000125247 141 0 0 136 17 11.1111 NALCN 0 genome.wustl.edu 37 13 101707766 101707766 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 101707766 101707766 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.5098 p.V1700M 0.998 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 205 0 0 132 31 19.0184 NALCN 0 genome.wustl.edu 37 13 101733920 101733920 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 101733920 101733920 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.3843 p.T1281 0.886 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 77 0 0 46 9 16.3636 NALCN 0 genome.wustl.edu 37 13 101757279 101757279 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 101757279 101757279 C A SNP NALCN ENST00000251127 human ensembl 74_37 -1 known nonsense c.2602 p.G868* 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 117 1 0.847458 84 9 9.67742 NALCN 0 genome.wustl.edu 37 13 101910797 101910797 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 101910797 101910797 C T SNP NALCN ENST00000251127 human ensembl 74_37 -1 known silent c.1263 p.A421 0.981 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 34 0 0 33 4 10.8108 TEX30 0 genome.wustl.edu 37 13 103420632 103420632 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 103420632 103420632 T C SNP TEX30 ENST00000376032 human ensembl 74_37 -1 known silent c.276 p.K92 1.000 NULL pfam_Dienelactn_hydro - no_errors TEX30 HGNC ENSG00000151287 153 0 0 102 7 6.42202 KDELC1 0 genome.wustl.edu 37 13 103449358 103449358 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 103449358 103449358 A T SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.184 p.F62I 0.998 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 104 0 0 70 4 5.40541 EFNB2 0 genome.wustl.edu 37 13 107145577 107145577 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 107145577 107145577 T C SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known silent c.813 p.T271 0.878 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 73 0 0 69 4 5.47945 EFNB2 0 genome.wustl.edu 37 13 107148116 107148116 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 107148116 107148116 A T SNP EFNB2 ENST00000245323 human ensembl 74_37 -1 known missense c.479 p.I160N 1.000 pfam_Ephrin,superfamily_Cupredoxin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB2 HGNC ENSG00000125266 276 0 0 171 39 18.5714 FAM155A 0 genome.wustl.edu 37 13 108518877 108518877 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 108518877 108518877 C T SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.68 p.R23Q 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 248 1 0.401606 175 34 16.2679 LIG4 0 genome.wustl.edu 37 13 108861807 108861807 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 108861807 108861807 C T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.1810 p.G604R 0.958 superfamily_NA-bd_OB-fold pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 122 0 0 77 9 10.4651 LIG4 0 genome.wustl.edu 37 13 108861847 108861847 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 108861847 108861847 C T SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known nonsense c.1770 p.W590* 1.000 superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 97 0 0 64 7 9.85915 LIG4 0 genome.wustl.edu 37 13 108862965 108862965 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 108862965 108862965 T C SNP LIG4 ENST00000356922 human ensembl 74_37 -1 known missense c.652 p.T218A 1.000 superfamily_DNA_ligase_ATP-dep_N,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_IV,pfam_BRCT_dom,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG4 HGNC ENSG00000174405 85 0 0 57 3 5 MYO16 0 genome.wustl.edu 37 13 109438032 109438032 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 109438032 109438032 A T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.491 p.D164V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 73 0 0 66 9 12 MYO16 0 genome.wustl.edu 37 13 109831918 109831918 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 109831918 109831918 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.5286 p.R1762 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 127 0 0 66 4 5.71429 COL4A1 0 genome.wustl.edu 37 13 110822921 110822921 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 110822921 110822921 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.3715 p.G1239R 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 16 0 0 8 3 27.2727 CARKD 0 genome.wustl.edu 37 13 111290911 111290911 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 111290911 111290911 C T SNP CARKD ENST00000470164 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CARKD HGNC ENSG00000213995 41 0 0 44 14 24.1379 ING1 0 genome.wustl.edu 37 13 111372083 111372083 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 111372083 111372083 G A SNP ING1 ENST00000375774 human ensembl 74_37 +1 known missense c.1073 p.C358Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors ING1 HGNC ENSG00000153487 56 0 0 53 4 7.01754 ARHGEF7 0 genome.wustl.edu 37 13 111862257 111862257 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 111862257 111862257 T C SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.439 p.S147P 1.000 superfamily_CH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 244 0 0 196 13 6.2201 ARHGEF7 0 genome.wustl.edu 37 13 111927973 111927973 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 111927973 111927973 T C SNP ARHGEF7 ENST00000375741 human ensembl 74_37 +1 known missense c.1430 p.L477P 1.000 pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain - no_errors ARHGEF7 HGNC ENSG00000102606 156 1 0.636943 113 11 8.87097 SPACA7 0 genome.wustl.edu 37 13 113053461 113053461 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 113053461 113053461 G T SNP SPACA7 ENST00000283550 human ensembl 74_37 +1 known missense c.323 p.G108V 0.000 NULL NULL - no_errors SPACA7 HGNC ENSG00000153498 64 0 0 43 4 8.51064 ATP11A 0 genome.wustl.edu 37 13 113532535 113532535 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 113532535 113532535 A G SNP ATP11A ENST00000283558 human ensembl 74_37 +1 known missense c.3332 p.K1111R 0.999 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 117 0 0 88 8 8.33333 MCF2L 0 genome.wustl.edu 37 13 113669143 113669143 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 113669143 113669143 G A SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.317 p.R106H 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 65 0 0 92 8 8 F7 0 genome.wustl.edu 37 13 113773089 113773089 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 113773089 113773089 G A SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.1168 p.A390T 1.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 26 0 0 14 6 30 LAMP1 0 genome.wustl.edu 37 13 113975975 113975975 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 113975975 113975975 G A SNP LAMP1 ENST00000332556 human ensembl 74_37 +1 known silent c.1047 p.A349 0.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 66 0 0 82 6 6.81818 GRK1 0 genome.wustl.edu 37 13 114324068 114324068 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 114324068 114324068 G A SNP GRK1 ENST00000335678 human ensembl 74_37 +1 known missense c.766 p.A256T 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK1 HGNC ENSG00000185974 170 0 0 140 37 20.904 GAS6 0 genome.wustl.edu 37 13 114537624 114537624 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 114537624 114537624 C T SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.734 p.G245D 0.000 pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 37 0 0 36 7 16.2791 RASA3 0 genome.wustl.edu 37 13 114780792 114780792 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 114780792 114780792 T C SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.1298 p.Y433C 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 53 0 0 54 6 10 ZMYM5 0 genome.wustl.edu 37 13 20412952 20412952 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 20412952 20412952 C T SNP ZMYM5 ENST00000337963 human ensembl 74_37 -1 known missense c.760 p.G254R 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 233 0 0 172 20 10.4167 ZMYM2 0 genome.wustl.edu 37 13 20579332 20579332 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 20579332 20579332 G T SNP ZMYM2 ENST00000382869 human ensembl 74_37 +1 known nonsense c.1252 p.G418* 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM2 HGNC ENSG00000121741 57 0 0 48 5 9.43396 XPO4 0 genome.wustl.edu 37 13 21373315 21373315 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 21373315 21373315 A G SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known missense c.2311 p.Y771H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 375 0 0 291 26 8.20189 XPO4 0 genome.wustl.edu 37 13 21373449 21373449 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 21373449 21373449 C T SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known nonsense c.2177 p.W726* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 175 0 0 162 10 5.81395 LATS2 0 genome.wustl.edu 37 13 21562755 21562755 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 21562755 21562755 C T SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known silent c.1164 p.A388 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 17 0 0 13 5 27.7778 LATS2 0 genome.wustl.edu 37 13 21562993 21562993 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 21562993 21562993 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.926 p.A309V 0.013 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 16 0 0 10 3 23.0769 SKA3 0 genome.wustl.edu 37 13 21736007 21736007 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 21736007 21736007 C T SNP SKA3 ENST00000314759 human ensembl 74_37 -1 known missense c.751 p.A251T 0.000 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 48 0 0 29 5 14.7059 MIPEPP3 0 genome.wustl.edu 37 13 21875703 21875703 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 21875703 21875703 G A SNP MIPEPP3 ENST00000424756 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIPEPP3 HGNC ENSG00000233325 30 0 0 21 5 19.2308 FGF9 0 genome.wustl.edu 37 13 22275428 22275428 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 22275428 22275428 C A SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known silent c.481 p.R161 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 75 0 0 72 4 5.26316 SACS 0 genome.wustl.edu 37 13 23904580 23904580 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 23904580 23904580 G T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.13435 p.L4479I 1.000 pfam_HEPN,smart_HEPN,pfscan_HEPN pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 173 1 0.574713 148 13 8.07453 C1QTNF9 0 genome.wustl.edu 37 13 24890300 24890300 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 24890300 24890300 C T SNP C1QTNF9 ENST00000332018 human ensembl 74_37 +1 known silent c.159 p.G53 0.938 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9 HGNC ENSG00000240654 31 0 0 24 12 33.3333 PARP4 0 genome.wustl.edu 37 13 25072362 25072362 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 25072362 25072362 T C SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known silent c.483 p.G161 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 31 0 0 36 4 10 ATP12A 0 genome.wustl.edu 37 13 25276190 25276190 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 25276190 25276190 G A SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.2017 p.V673M 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 128 0 0 84 18 17.6471 RNF17 0 genome.wustl.edu 37 13 25451230 25451230 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 25451230 25451230 A G SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.4679 p.E1560G 0.995 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 124 0 0 86 5 5.49451 CENPJ 0 genome.wustl.edu 37 13 25457393 25457393 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 25457393 25457393 A T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.3939 p.H1313Q 0.692 pfam_Tcp10_C_dom pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 231 0 0 171 9 5 AMER2 0 genome.wustl.edu 37 13 25745239 25745239 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 25745239 25745239 C T SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known silent c.519 p.S173 0.548 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 27 0 0 30 4 11.7647 MTMR6 0 genome.wustl.edu 37 13 25841985 25841985 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 25841985 25841985 T C SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.236 p.H79R 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 100 0 0 62 5 7.46269 ATP8A2 0 genome.wustl.edu 37 13 26163837 26163837 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 26163837 26163837 T C SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known silent c.2211 p.D737 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 144 0 0 101 7 6.48148 GPR12 0 genome.wustl.edu 37 13 27333537 27333537 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 27333537 27333537 T A SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known missense c.428 p.Y143F 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 67 0 0 67 8 10.6667 CDX2 0 genome.wustl.edu 37 13 28537373 28537373 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 28537373 28537373 G T SNP CDX2 ENST00000381020 human ensembl 74_37 -1 known missense c.821 p.P274H 0.907 NULL pfam_Caudal_activation_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors CDX2 HGNC ENSG00000165556 53 0 0 52 7 11.8644 PAN3 0 genome.wustl.edu 37 13 28866538 28866538 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 28866538 28866538 A G SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.2543 p.E848G 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 85 0 0 64 8 11.1111 FLT1 0 genome.wustl.edu 37 13 28959109 28959109 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 28959109 28959109 A C SNP FLT1 ENST00000282397 human ensembl 74_37 -1 known missense c.2029 p.S677A 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR1_rcpt - no_errors FLT1 HGNC ENSG00000102755 138 0 0 143 14 8.9172 MTUS2 0 genome.wustl.edu 37 13 29855913 29855913 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 29855913 29855913 C G SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2747 p.A916G 0.097 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 41 0 0 41 5 10.8696 B3GALTL 0 genome.wustl.edu 37 13 31821211 31821211 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 31821211 31821211 T C SNP B3GALTL ENST00000343307 human ensembl 74_37 +1 known missense c.322 p.W108R 0.985 NULL pfam_Fringe-like - no_errors B3GALTL HGNC ENSG00000187676 85 0 0 59 5 7.8125 RXFP2 0 genome.wustl.edu 37 13 32332460 32332460 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 32332460 32332460 A G SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known missense c.160 p.N54D 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_Relaxin_rcpt pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP2 HGNC ENSG00000133105 145 0 0 123 10 7.5188 FRY 0 genome.wustl.edu 37 13 32808832 32808832 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 32808832 32808832 A G SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.5649 p.A1883 0.217 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 93 0 0 88 7 7.36842 FRY 0 genome.wustl.edu 37 13 32841346 32841346 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 32841346 32841346 G A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.7986 p.S2662 0.740 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 154 0 0 140 21 13.0435 FRY 0 genome.wustl.edu 37 13 32868689 32868689 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 32868689 32868689 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.8765 p.R2922L 0.961 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 55 0 0 41 4 8.88889 BRCA2 0 genome.wustl.edu 37 13 32906609 32906609 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 32906609 32906609 A T SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.994 p.I332F 0.012 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 197 0 0 143 11 7.14286 KL 0 genome.wustl.edu 37 13 33635256 33635256 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 33635256 33635256 C T SNP KL ENST00000380099 human ensembl 74_37 +1 known silent c.2040 p.H680 0.001 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 64 0 0 46 6 11.5385 STARD13 0 genome.wustl.edu 37 13 33692261 33692261 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 33692261 33692261 T A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2222 p.D741V 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 107 0 0 84 10 10.6383 STARD13 0 genome.wustl.edu 37 13 33703177 33703177 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 33703177 33703177 G A SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.1637 p.T546M 0.999 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 108 0 0 76 9 10.5882 NBEA 0 genome.wustl.edu 37 13 36242655 36242655 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 36242655 36242655 A C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known silent c.8749 p.R2917 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_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 55 0 0 46 4 8 DCLK1 0 genome.wustl.edu 37 13 36348794 36348794 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 36348794 36348794 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.2101 p.R701C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 28 0 0 14 3 17.6471 DCLK1 0 genome.wustl.edu 37 13 36699987 36699987 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 36699987 36699987 C T SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known silent c.288 p.S96 0.978 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 62 0 0 60 7 10.4478 SPG20 0 genome.wustl.edu 37 13 36909169 36909169 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 36909169 36909169 C T SNP SPG20 ENST00000355182 human ensembl 74_37 -1 known missense c.799 p.G267R 1.000 NULL pfam_Senescence/spartin,pfam_MIT,smart_MIT - no_errors SPG20 HGNC ENSG00000133104 171 0 0 124 28 18.4211 SUPT20H 0 genome.wustl.edu 37 13 37614783 37614783 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 37614783 37614783 T C SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.443 p.Y148C 1.000 pfam_Spt20 pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 93 0 0 61 6 8.95522 POSTN 0 genome.wustl.edu 37 13 38153250 38153250 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 38153250 38153250 A G SNP POSTN ENST00000379747 human ensembl 74_37 -1 known silent c.1800 p.D600 0.986 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 43 0 0 41 4 8.88889 FREM2 0 genome.wustl.edu 37 13 39263259 39263259 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 39263259 39263259 A T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.1778 p.D593V 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 90 0 0 68 7 9.33333 FREM2 0 genome.wustl.edu 37 13 39432107 39432107 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 39432107 39432107 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.7152 p.D2384 0.993 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 110 0 0 58 25 30.1205 FREM2 0 genome.wustl.edu 37 13 39450201 39450201 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 39450201 39450201 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.8324 p.G2775D 0.996 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 181 0 0 132 11 7.69231 PROSER1 0 genome.wustl.edu 37 13 39587269 39587269 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 39587269 39587269 A T SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.2120 p.F707Y 0.995 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 133 0 0 117 15 11.3636 PROSER1 0 genome.wustl.edu 37 13 39587655 39587655 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 39587655 39587655 T C SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known silent c.1734 p.S578 0.000 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 113 0 0 106 10 8.62069 COG6 0 genome.wustl.edu 37 13 40261756 40261756 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 40261756 40261756 A G SNP COG6 ENST00000455146 human ensembl 74_37 +1 known missense c.905 p.H302R 1.000 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 112 0 0 99 6 5.71429 KBTBD6 0 genome.wustl.edu 37 13 41706252 41706252 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 41706252 41706252 A T SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known silent c.396 p.G132 0.990 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 50 0 0 56 5 8.19672 NAA16 0 genome.wustl.edu 37 13 41902913 41902913 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 41902913 41902913 A G SNP NAA16 ENST00000379406 human ensembl 74_37 +1 known missense c.745 p.N249D 0.985 smart_TPR_repeat,pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 164 0 0 118 14 10.6061 VWA8 0 genome.wustl.edu 37 13 42303761 42303761 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42303761 42303761 G T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.2555 p.A852D 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 152 0 0 69 19 21.5909 VWA8 0 genome.wustl.edu 37 13 42385394 42385394 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42385394 42385394 A G SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.2030 p.L677P 1.000 superfamily_P-loop_NTPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 159 0 0 142 10 6.57895 VWA8 0 genome.wustl.edu 37 13 42407516 42407516 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42407516 42407516 A C SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.1577 p.V526G 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 39 0 0 41 3 6.81818 VWA8 0 genome.wustl.edu 37 13 42457538 42457538 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42457538 42457538 C T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known silent c.1065 p.V355 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 76 0 0 66 5 7.04225 DGKH 0 genome.wustl.edu 37 13 42729868 42729868 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42729868 42729868 A G SNP DGKH ENST00000538674 human ensembl 74_37 +1 known missense c.53 p.D18G 0.045 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory - no_errors DGKH HGNC ENSG00000102780 111 0 0 87 5 5.43478 DGKH 0 genome.wustl.edu 37 13 42795459 42795459 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42795459 42795459 T C SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.3502 p.Y1168H 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 134 0 0 107 8 6.95652 AKAP11 0 genome.wustl.edu 37 13 42872729 42872729 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42872729 42872729 A T SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.412 p.I138F 0.997 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 162 0 0 113 11 8.87097 NUFIP1 0 genome.wustl.edu 37 13 45553376 45553376 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 45553376 45553376 A G SNP NUFIP1 ENST00000379161 human ensembl 74_37 -1 known missense c.683 p.I228T 1.000 pfam_NUFIP1_cons_dom pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors NUFIP1 HGNC ENSG00000083635 117 0 0 82 5 5.74713 KCTD4 0 genome.wustl.edu 37 13 45768438 45768438 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 45768438 45768438 C T SNP KCTD4 ENST00000379108 human ensembl 74_37 -1 known missense c.265 p.V89I 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD4 HGNC ENSG00000180332 146 0 0 91 24 20.8696 GTF2F2 0 genome.wustl.edu 37 13 45841416 45841416 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 45841416 45841416 G A SNP GTF2F2 ENST00000340473 human ensembl 74_37 +1 known missense c.535 p.D179N 1.000 pfam_TFIIF_beta,pirsf_TFIIF-beta_subgr pfam_TFIIF_beta,superfamily_TFIIF_interaction,pirsf_TFIIF-beta_subgr - no_errors GTF2F2 HGNC ENSG00000188342 134 0 0 102 8 7.27273 COG3 0 genome.wustl.edu 37 13 46093104 46093104 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46093104 46093104 G A SNP COG3 ENST00000349995 human ensembl 74_37 +1 known missense c.2029 p.E677K 1.000 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 90 0 0 74 6 7.5 SPERT 0 genome.wustl.edu 37 13 46287717 46287717 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46287717 46287717 A G SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.557 p.N186S 0.987 NULL NULL - no_errors SPERT HGNC ENSG00000174015 71 0 0 61 4 6.15385 SPERT 0 genome.wustl.edu 37 13 46287807 46287807 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46287807 46287807 C T SNP SPERT ENST00000310521 human ensembl 74_37 +1 known missense c.647 p.S216L 0.001 NULL NULL - no_errors SPERT HGNC ENSG00000174015 35 0 0 42 4 8.69565 SIAH3 0 genome.wustl.edu 37 13 46357728 46357728 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46357728 46357728 G T SNP SIAH3 ENST00000400405 human ensembl 74_37 -1 known silent c.600 p.T200 1.000 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like - no_errors SIAH3 HGNC ENSG00000215475 35 0 0 39 6 13.3333 ZC3H13 0 genome.wustl.edu 37 13 46559477 46559477 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46559477 46559477 G A SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known nonsense c.1675 p.R559* 0.994 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 124 0 0 99 13 11.6071 CPB2 0 genome.wustl.edu 37 13 46638817 46638817 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46638817 46638817 G A SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known silent c.762 p.D254 0.987 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 77 0 0 70 6 7.89474 CPB2 0 genome.wustl.edu 37 13 46661956 46661956 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46661956 46661956 C T SNP CPB2 ENST00000181383 human ensembl 74_37 -1 known splice_site c.75-1 e2-1 1.000 - - - no_errors CPB2 HGNC ENSG00000080618 156 0 0 113 12 9.6 HTR2A 0 genome.wustl.edu 37 13 47409003 47409003 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 47409003 47409003 T G SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.1385 p.D462A 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 119 0 0 97 13 11.8182 RB1 0 genome.wustl.edu 37 13 48921969 48921969 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 48921969 48921969 A G SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.509 p.E170G 1.000 pfam_RB_N pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 72 0 0 43 4 8.51064 FNDC3A 0 genome.wustl.edu 37 13 49781431 49781431 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 49781431 49781431 G A SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.3497 p.R1166Q 0.998 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 40 0 0 28 12 30 CDADC1 0 genome.wustl.edu 37 13 49833617 49833617 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 49833617 49833617 T C SNP CDADC1 ENST00000251108 human ensembl 74_37 +1 known missense c.388 p.S130P 1.000 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors CDADC1 HGNC ENSG00000102543 102 0 0 71 24 25.2632 CAB39L 0 genome.wustl.edu 37 13 49885125 49885125 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 49885125 49885125 A G SNP CAB39L ENST00000347776 human ensembl 74_37 -1 known missense c.839 p.F280S 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC ENSG00000102547 201 0 0 169 11 6.11111 SETDB2 0 genome.wustl.edu 37 13 50050783 50050783 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 50050783 50050783 T A SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known nonsense c.513 p.C171* 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 143 0 0 88 20 18.5185 SETDB2 0 genome.wustl.edu 37 13 50055082 50055082 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 50055082 50055082 G A SNP SETDB2 ENST00000317257 human ensembl 74_37 +1 known splice_site c.1023-1 e8-1 1.000 - - - no_errors SETDB2 HGNC ENSG00000136169 115 0 0 64 6 8.57143 KPNA3 0 genome.wustl.edu 37 13 50279883 50279883 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 50279883 50279883 A G SNP KPNA3 ENST00000261667 human ensembl 74_37 -1 known missense c.1246 p.F416L 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC ENSG00000102753 94 0 0 67 5 6.94444 FAM124A 0 genome.wustl.edu 37 13 51855296 51855296 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 51855296 51855296 C T SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known silent c.1653 p.C551 0.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 68 0 0 73 5 6.41026 ATP7B 0 genome.wustl.edu 37 13 52515217 52515217 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 52515217 52515217 C T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.3556 p.G1186S 0.996 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 90 0 0 59 9 13.2353 ATP7B 0 genome.wustl.edu 37 13 52523920 52523920 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 52523920 52523920 G A SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known nonsense c.2743 p.Q915* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 128 0 0 93 7 7 ATP7B 0 genome.wustl.edu 37 13 52539088 52539088 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 52539088 52539088 C T SNP ATP7B ENST00000242839 human ensembl 74_37 -1 known missense c.1789 p.V597I 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 133 1 0.746269 98 17 14.7826 NEK5 0 genome.wustl.edu 37 13 52663438 52663438 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 52663438 52663438 T C SNP NEK5 ENST00000355568 human ensembl 74_37 -1 known missense c.1220 p.Y407C 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK5 HGNC ENSG00000197168 57 0 0 41 4 8.88889 THSD1 0 genome.wustl.edu 37 13 52952229 52952229 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 52952229 52952229 G A SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known missense c.1876 p.R626C 0.470 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 73 0 0 58 4 6.45161 THSD1 0 genome.wustl.edu 37 13 52952905 52952905 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 52952905 52952905 T C SNP THSD1 ENST00000258613 human ensembl 74_37 -1 known silent c.1200 p.P400 0.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC ENSG00000136114 29 0 0 30 7 18.9189 PCDH8 0 genome.wustl.edu 37 13 53420245 53420245 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 53420245 53420245 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known missense c.2327 p.R776H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 76 0 0 65 16 19.7531 PCDH17 0 genome.wustl.edu 37 13 58208481 58208481 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 58208481 58208481 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.1801 p.A601T 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 36 0 0 36 4 10 PCDH17 0 genome.wustl.edu 37 13 58208869 58208869 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 58208869 58208869 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2189 p.C730Y 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 67 0 0 41 16 28.0702 DIAPH3 0 genome.wustl.edu 37 13 60240957 60240957 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 60240957 60240957 C A SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known nonsense c.3343 p.E1115* 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 97 0 0 61 9 12.8571 DIAPH3 0 genome.wustl.edu 37 13 60545158 60545158 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 60545158 60545158 G T SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.1787 p.P596H 1.000 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 75 0 0 63 6 8.69565 DIAPH3 0 genome.wustl.edu 37 13 60616864 60616864 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 60616864 60616864 G T SNP DIAPH3 ENST00000400324 human ensembl 74_37 -1 known missense c.586 p.L196M 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 54 0 0 45 4 8.16327 PCDH20 0 genome.wustl.edu 37 13 61986186 61986186 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 61986186 61986186 A G SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known silent c.2046 p.S682 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 122 0 0 99 14 12.3894 DACH1 0 genome.wustl.edu 37 13 72049923 72049923 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 72049923 72049923 T C SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known silent c.2091 p.A697 0.759 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 216 0 0 157 23 12.7778 DACH1 0 genome.wustl.edu 37 13 72146996 72146996 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 72146996 72146996 G T SNP DACH1 ENST00000359684 human ensembl 74_37 -1 known silent c.1437 p.S479 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 80 0 0 69 5 6.75676 DIS3 0 genome.wustl.edu 37 13 73350153 73350153 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 73350153 73350153 A G SNP DIS3 ENST00000377767 human ensembl 74_37 -1 known silent c.732 p.G244 0.251 NULL smart_PIN_dom - no_errors DIS3 HGNC ENSG00000083520 84 0 0 55 5 8.33333 TBC1D4 0 genome.wustl.edu 37 13 75861153 75861153 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 75861153 75861153 A G SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known silent c.3672 p.H1224 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 86 0 0 74 4 5.12821 LMO7 0 genome.wustl.edu 37 13 76408473 76408473 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 76408473 76408473 C T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.3332 p.A1111V 0.999 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 156 0 0 95 8 7.76699 KCTD12 0 genome.wustl.edu 37 13 77459345 77459345 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 77459345 77459345 G C SNP KCTD12 ENST00000317765 human ensembl 74_37 -1 known missense c.939 p.I313M 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD12 HGNC ENSG00000178695 64 0 0 66 5 7.04225 MYCBP2 0 genome.wustl.edu 37 13 77671955 77671955 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 77671955 77671955 T A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.9334 p.M3112L 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 130 0 0 115 14 10.8527 MYCBP2 0 genome.wustl.edu 37 13 77847693 77847693 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 77847693 77847693 C T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.859 p.A287T 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 106 0 0 105 6 5.40541 EDNRB 0 genome.wustl.edu 37 13 78492418 78492418 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 78492418 78492418 C A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.291 p.K97N 0.805 prints_Endthln_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 64 0 0 60 7 10.4478 RNF219 0 genome.wustl.edu 37 13 79219069 79219069 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 79219069 79219069 A G SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known silent c.136 p.L46 1.000 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 139 0 0 89 8 8.24742 RNF219 0 genome.wustl.edu 37 13 79219087 79219087 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 79219087 79219087 T A SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known missense c.118 p.I40F 0.003 pfscan_Znf_RING pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 117 0 0 73 7 8.75 RBM26 0 genome.wustl.edu 37 13 79939848 79939848 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 79939848 79939848 A G SNP RBM26 ENST00000438724 human ensembl 74_37 -1 known missense c.1282 p.Y428H 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 97 0 0 85 7 7.6087 SLITRK5 0 genome.wustl.edu 37 13 88328670 88328670 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 88328670 88328670 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1027 p.R343C 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 83 0 0 79 23 22.549 SLITRK5 0 genome.wustl.edu 37 13 88328765 88328765 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 88328765 88328765 T C SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.1122 p.C374 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 65 0 0 65 4 5.7971 GPC6 0 genome.wustl.edu 37 13 93879729 93879729 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 93879729 93879729 C T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.20 p.A7V 1.000 NULL pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 88 0 0 72 11 13.253 DCT 0 genome.wustl.edu 37 13 95092303 95092303 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 95092303 95092303 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.1508 p.P503L 0.057 NULL pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 55 0 0 62 5 7.46269 SOX21 0 genome.wustl.edu 37 13 95364135 95364135 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 95364135 95364135 A G SNP SOX21 ENST00000376945 human ensembl 74_37 -1 known missense c.169 p.F57L 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom,prints_Antifreeze_1 - no_errors SOX21 HGNC ENSG00000125285 84 0 0 86 6 6.52174 HS6ST3 0 genome.wustl.edu 37 13 97484962 97484962 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 97484962 97484962 G T SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.926 p.R309L 1.000 pfam_Sulfotransferase,superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 64 0 0 63 4 5.97015 RAP2A 0 genome.wustl.edu 37 13 98116606 98116606 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 98116606 98116606 C T SNP RAP2A ENST00000245304 human ensembl 74_37 +1 known silent c.462 p.D154 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2A HGNC ENSG00000125249 148 0 0 90 26 22.4138 IPO5 0 genome.wustl.edu 37 13 98662198 98662198 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 98662198 98662198 T A SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1918 p.Y640N 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 50 0 0 45 4 8.16327 IPO5 0 genome.wustl.edu 37 13 98671963 98671963 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 98671963 98671963 G A SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.3019 p.V1007I 0.982 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 109 0 0 70 24 25.5319 IPO5 0 genome.wustl.edu 37 13 98673356 98673356 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 98673356 98673356 A G SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.3230 p.K1077R 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 197 0 0 165 18 9.83607 RNF113B 0 genome.wustl.edu 37 13 98829068 98829068 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 98829068 98829068 C A SNP RNF113B ENST00000267291 human ensembl 74_37 -1 known silent c.423 p.R141 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113B HGNC ENSG00000139797 36 0 0 45 8 15.0943 DOCK9 0 genome.wustl.edu 37 13 99461670 99461670 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 99461670 99461670 G A SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.5306 p.T1769I 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 113 0 0 89 11 11 DOCK9 0 genome.wustl.edu 37 13 99538086 99538086 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 99538086 99538086 C T SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known splice_site c.2140-1 e20-1 1.000 - - - no_errors DOCK9 HGNC ENSG00000088387 90 0 0 61 4 6.15385 EML1 0 genome.wustl.edu 37 14 100317246 100317246 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 100317246 100317246 G T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known nonsense c.124 p.E42* 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 72 0 0 62 6 8.82353 EML1 0 genome.wustl.edu 37 14 100363529 100363529 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 100363529 100363529 C T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.782 p.P261L 1.000 pfam_HELP,superfamily_Quinonprotein_ADH-like_supfam pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 103 0 0 78 6 7.14286 EML1 0 genome.wustl.edu 37 14 100406438 100406438 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 100406438 100406438 C T SNP EML1 ENST00000334192 human ensembl 74_37 +1 known missense c.2494 p.R832C 1.000 smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML1 HGNC ENSG00000066629 30 0 0 24 4 14.2857 WDR25 0 genome.wustl.edu 37 14 100950346 100950346 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 100950346 100950346 G T SNP WDR25 ENST00000335290 human ensembl 74_37 +1 known missense c.986 p.S329I 0.707 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR25 HGNC ENSG00000176473 150 1 0.662252 123 13 9.55882 DLK1 0 genome.wustl.edu 37 14 101198408 101198408 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 101198408 101198408 G A SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known missense c.292 p.A98T 0.653 pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 41 0 0 58 4 6.45161 MIR493 0 genome.wustl.edu 37 14 101335474 101335474 + RNA SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 101335474 101335474 G C SNP MIR493 ENST00000385254 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR493 HGNC ENSG00000207989 42 0 0 33 8 19.5122 SNORD113-2 0 genome.wustl.edu 37 14 101393741 101393741 + RNA SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 101393741 101393741 A T SNP SNORD113-2 ENST00000391082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD113-2 HGNC ENSG00000212384 71 0 0 39 4 9.30233 MIR487A 0 genome.wustl.edu 37 14 101518813 101518813 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 101518813 101518813 T C SNP MIR487A ENST00000384827 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR487A HGNC ENSG00000207558 81 0 0 77 5 6.09756 MIR377 0 genome.wustl.edu 37 14 101528429 101528429 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 101528429 101528429 G A SNP MIR377 ENST00000362145 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR377 HGNC ENSG00000199015 117 0 0 103 13 11.2069 DYNC1H1 0 genome.wustl.edu 37 14 102453856 102453856 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 102453856 102453856 T C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.2605 p.Y869H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 66 0 0 46 9 16.3636 DYNC1H1 0 genome.wustl.edu 37 14 102461592 102461592 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 102461592 102461592 G A SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.3519 p.V1173 0.996 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 231 0 0 188 13 6.46766 DYNC1H1 0 genome.wustl.edu 37 14 102474611 102474611 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 102474611 102474611 T C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.5914 p.S1972P 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 59 0 0 50 5 9.09091 DYNC1H1 0 genome.wustl.edu 37 14 102483497 102483497 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 102483497 102483497 T C SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known missense c.7921 p.Y2641H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 112 0 0 123 7 5.38462 TECPR2 0 genome.wustl.edu 37 14 102901049 102901049 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 102901049 102901049 C T SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known missense c.1895 p.P632L 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 61 0 0 39 4 9.30233 TECPR2 0 genome.wustl.edu 37 14 102918744 102918744 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 102918744 102918744 G A SNP TECPR2 ENST00000359520 human ensembl 74_37 +1 known nonsense c.3420 p.W1140* 1.000 superfamily_RCC1/BLIP-II pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_RCC1/BLIP-II,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 36 0 0 38 5 11.6279 CDC42BPB 0 genome.wustl.edu 37 14 103452834 103452834 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 103452834 103452834 T C SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.680 p.D227G 0.997 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 104 0 0 90 12 11.7647 CKB 0 genome.wustl.edu 37 14 103986380 103986380 + Splice_Site SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 103986380 103986380 C A SNP CKB ENST00000348956 human ensembl 74_37 -1 known splice_site c.968-1 e7-1 1.000 - - - no_errors CKB HGNC ENSG00000166165 24 0 0 13 2 13.3333 TDRD9 0 genome.wustl.edu 37 14 104472992 104472992 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 104472992 104472992 T C SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.1889 p.L630P 0.989 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 59 0 0 40 4 9.09091 ADSSL1 0 genome.wustl.edu 37 14 105204736 105204736 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105204736 105204736 C T SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known missense c.448 p.P150S 1.000 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 71 0 0 54 7 11.4754 ADSSL1 0 genome.wustl.edu 37 14 105207003 105207003 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105207003 105207003 G A SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known missense c.671 p.R224H 0.999 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 72 0 0 65 17 20.7317 AKT1 0 genome.wustl.edu 37 14 105238712 105238712 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105238712 105238712 T C SNP AKT1 ENST00000349310 human ensembl 74_37 -1 known missense c.1250 p.Y417C 0.998 superfamily_Kinase-like_dom,smart_AGC-kinase_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom - no_errors AKT1 HGNC ENSG00000142208 77 0 0 69 6 8 PLD4 0 genome.wustl.edu 37 14 105397263 105397263 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105397263 105397263 C T SNP PLD4 ENST00000392593 human ensembl 74_37 +1 known missense c.902 p.T301I 1.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD4 HGNC ENSG00000166428 81 0 0 83 13 13.5417 AHNAK2 0 genome.wustl.edu 37 14 105405613 105405613 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105405613 105405613 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.16175 p.P5392Q 0.807 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 68 0 0 60 6 9.09091 AHNAK2 0 genome.wustl.edu 37 14 105408953 105408953 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105408953 105408953 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.12835 p.R4279W 0.224 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 216 0 0 230 21 8.36653 AHNAK2 0 genome.wustl.edu 37 14 105410623 105410623 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105410623 105410623 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11165 p.P3722H 0.006 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 224 1 0.444444 255 14 5.20446 AHNAK2 0 genome.wustl.edu 37 14 105411049 105411049 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105411049 105411049 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.10739 p.G3580D 0.011 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 189 0 0 185 15 7.5 AHNAK2 0 genome.wustl.edu 37 14 105411899 105411899 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105411899 105411899 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9889 p.A3297T 0.005 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 177 0 0 175 17 8.85417 AHNAK2 0 genome.wustl.edu 37 14 105412394 105412394 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105412394 105412394 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.9394 p.A3132T 0.071 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 95 0 0 81 7 7.95455 AHNAK2 0 genome.wustl.edu 37 14 105413160 105413160 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105413160 105413160 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.8628 p.Q2876 0.038 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 197 0 0 150 60 28.5714 AHNAK2 0 genome.wustl.edu 37 14 105413926 105413926 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105413926 105413926 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7862 p.P2621L 0.271 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 235 1 0.423729 228 22 8.8 AHNAK2 0 genome.wustl.edu 37 14 105416427 105416427 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105416427 105416427 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.5361 p.P1787 0.003 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 222 0 0 249 28 10.1083 AHNAK2 0 genome.wustl.edu 37 14 105419623 105419623 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105419623 105419623 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.2165 p.D722G 0.005 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 169 0 0 165 22 11.7647 GPR132 0 genome.wustl.edu 37 14 105517541 105517541 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105517541 105517541 G T SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known silent c.933 p.A311 0.706 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 44 0 0 38 7 15.5556 BTBD6 0 genome.wustl.edu 37 14 105716945 105716945 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105716945 105716945 C T SNP BTBD6 ENST00000392554 human ensembl 74_37 +1 known missense c.1394 p.S465L 0.997 pfam_PHR pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD6 HGNC ENSG00000184887 71 0 0 56 21 27.2727 OR4M1 0 genome.wustl.edu 37 14 20249085 20249085 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20249085 20249085 A G SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.604 p.S202G 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 193 0 0 190 13 6.40394 OR4N2 0 genome.wustl.edu 37 14 20296017 20296017 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20296017 20296017 A T SNP OR4N2 ENST00000315947 human ensembl 74_37 +1 known missense c.410 p.N137I 0.239 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 247 0 0 192 18 8.57143 OR4K5 0 genome.wustl.edu 37 14 20389618 20389618 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20389618 20389618 A G SNP OR4K5 ENST00000315915 human ensembl 74_37 +1 known missense c.853 p.I285V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K5 HGNC ENSG00000176281 162 0 0 137 8 5.51724 OR4N5 0 genome.wustl.edu 37 14 20612317 20612317 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20612317 20612317 C T SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known silent c.423 p.C141 0.003 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 246 0 0 219 20 8.3682 OR11G2 0 genome.wustl.edu 37 14 20666363 20666363 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20666363 20666363 A G SNP OR11G2 ENST00000357366 human ensembl 74_37 +1 known missense c.869 p.Y290C 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11G2 HGNC ENSG00000196832 210 0 0 205 13 5.9633 TEP1 0 genome.wustl.edu 37 14 20845495 20845495 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20845495 20845495 A G SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.6032 p.F2011S 0.087 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 35 0 0 29 5 14.7059 TEP1 0 genome.wustl.edu 37 14 20846301 20846301 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20846301 20846301 A C SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.5603 p.L1868R 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 70 0 0 83 7 7.77778 TEP1 0 genome.wustl.edu 37 14 20846985 20846985 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20846985 20846985 G A SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.5280 p.Y1760 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 71 0 0 73 8 9.87654 TEP1 0 genome.wustl.edu 37 14 20850794 20850794 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20850794 20850794 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.4128 p.T1376 0.026 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 80 0 0 81 10 10.989 TEP1 0 genome.wustl.edu 37 14 20859807 20859807 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20859807 20859807 A G SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.2048 p.L683P 0.016 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 145 0 0 125 31 19.8718 APEX1 0 genome.wustl.edu 37 14 20924885 20924885 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20924885 20924885 A T SNP APEX1 ENST00000216714 human ensembl 74_37 +1 known missense c.305 p.N102I 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX1 HGNC ENSG00000100823 170 1 0.584795 125 11 8.08824 RNASE3 0 genome.wustl.edu 37 14 21360111 21360111 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 21360111 21360111 G A SNP RNASE3 ENST00000304639 human ensembl 74_37 +1 known missense c.266 p.C89Y 0.008 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE3 HGNC ENSG00000169397 103 0 0 89 22 19.8198 ZNF219 0 genome.wustl.edu 37 14 21561223 21561223 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 21561223 21561223 G A SNP ZNF219 ENST00000360947 human ensembl 74_37 -1 known missense c.233 p.A78V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_rcpt - no_errors ZNF219 HGNC ENSG00000165804 15 0 0 13 4 23.5294 HNRNPC 0 genome.wustl.edu 37 14 21679995 21679995 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 21679995 21679995 A T SNP HNRNPC ENST00000320084 human ensembl 74_37 -1 known missense c.650 p.I217N 1.000 superfamily_Regulat_G_prot_signal_superfam,pirsf_hnRNP_C_Raly pfam_RRM_dom,superfamily_Regulat_G_prot_signal_superfam,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors HNRNPC HGNC ENSG00000092199 222 0 0 150 11 6.8323 CHD8 0 genome.wustl.edu 37 14 21860770 21860770 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 21860770 21860770 A G SNP CHD8 ENST00000399982 human ensembl 74_37 -1 known missense c.6667 p.S2223P 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,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 CHD8 HGNC ENSG00000100888 157 0 0 149 12 7.45342 TOX4 0 genome.wustl.edu 37 14 21961062 21961062 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 21961062 21961062 T A SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.1287 p.A429 0.939 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 181 1 0.549451 156 11 6.58683 OXA1L 0 genome.wustl.edu 37 14 23239726 23239726 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 23239726 23239726 G A SNP OXA1L ENST00000285848 human ensembl 74_37 +1 known silent c.906 p.V302 1.000 pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C pfam_Membrane_insert_OXA1/ALB3/YidC,tigrfam_Membr_insert_YidC/Oxa1_C - no_errors OXA1L HGNC ENSG00000155463 114 0 0 105 11 9.48276 C14orf93 0 genome.wustl.edu 37 14 23467914 23467914 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 23467914 23467914 T C SNP C14orf93 ENST00000299088 human ensembl 74_37 -1 known missense c.319 p.I107V 0.000 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 63 0 0 72 5 6.49351 ACIN1 0 genome.wustl.edu 37 14 23530297 23530297 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 23530297 23530297 C A SNP ACIN1 ENST00000262710 human ensembl 74_37 -1 known missense c.3695 p.S1232I 1.000 NULL pfam_SAP_dom,smart_SAP_dom,pfscan_SAP_dom - no_errors ACIN1 HGNC ENSG00000100813 47 0 0 35 8 18.6047 HOMEZ 0 genome.wustl.edu 37 14 23745847 23745847 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 23745847 23745847 C G SNP HOMEZ ENST00000431326 human ensembl 74_37 -1 known missense c.596 p.S199T 0.989 NULL superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOMEZ HGNC ENSG00000215271 148 0 0 136 27 16.5644 MYH6 0 genome.wustl.edu 37 14 23855309 23855309 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 23855309 23855309 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.4991 p.R1664H 0.223 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 43 0 0 36 3 7.69231 MYH6 0 genome.wustl.edu 37 14 23858074 23858074 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 23858074 23858074 T C SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.4169 p.E1390G 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 74 0 0 80 6 6.97674 MYH6 0 genome.wustl.edu 37 14 23868101 23868101 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 23868101 23868101 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.1727 p.A576V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 75 0 0 62 22 26.1905 AP1G2 0 genome.wustl.edu 37 14 24029026 24029026 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24029026 24029026 C T SNP AP1G2 ENST00000308724 human ensembl 74_37 -1 known missense c.2290 p.D764N 0.975 pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app - no_errors AP1G2 HGNC ENSG00000213983 37 0 0 31 5 13.8889 PCK2 0 genome.wustl.edu 37 14 24569212 24569212 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24569212 24569212 C T SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.1024 p.R342W 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 172 0 0 192 14 6.79612 FITM1 0 genome.wustl.edu 37 14 24600921 24600921 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24600921 24600921 C A SNP FITM1 ENST00000267426 human ensembl 74_37 +1 known missense c.149 p.P50H 1.000 NULL pfam_FIT - no_errors FITM1 HGNC ENSG00000139914 76 0 0 65 5 7.14286 IRF9 0 genome.wustl.edu 37 14 24632717 24632717 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24632717 24632717 T C SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known silent c.495 p.N165 0.033 NULL pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 76 0 0 72 8 10 GMPR2 0 genome.wustl.edu 37 14 24705334 24705334 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24705334 24705334 G A SNP GMPR2 ENST00000348719 human ensembl 74_37 +1 known silent c.453 p.Q151 0.981 pfam_IMP_DH_GMPRt,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pfam_FMN-dep_DH,tigrfam_GMP_reduct1 - no_errors GMPR2 HGNC ENSG00000100938 135 0 0 105 12 10.2564 RIPK3 0 genome.wustl.edu 37 14 24808444 24808444 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24808444 24808444 T A SNP RIPK3 ENST00000216274 human ensembl 74_37 -1 known missense c.248 p.N83I 0.008 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC ENSG00000129465 98 0 0 99 6 5.71429 NFATC4 0 genome.wustl.edu 37 14 24839280 24839280 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24839280 24839280 A T SNP NFATC4 ENST00000413692 human ensembl 74_37 +1 known missense c.865 p.T289S 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC4 HGNC ENSG00000100968 25 0 0 20 7 25.9259 CTSG 0 genome.wustl.edu 37 14 25043577 25043577 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 25043577 25043577 T C SNP CTSG ENST00000216336 human ensembl 74_37 -1 known silent c.468 p.T156 0.000 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,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTSG HGNC ENSG00000100448 69 0 0 70 8 10.2564 CTSG 0 genome.wustl.edu 37 14 25044505 25044505 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 25044505 25044505 C T SNP CTSG ENST00000216336 human ensembl 74_37 -1 known missense c.169 p.D57N 1.000 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,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTSG HGNC ENSG00000100448 80 0 0 79 5 5.95238 NOVA1 0 genome.wustl.edu 37 14 26918159 26918159 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 26918159 26918159 A G SNP NOVA1 ENST00000539517 human ensembl 74_37 -1 known missense c.530 p.I177T 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors NOVA1 HGNC ENSG00000139910 161 1 0.617284 140 8 5.40541 G2E3 0 genome.wustl.edu 37 14 31050312 31050312 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 31050312 31050312 A G SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known silent c.27 p.S9 0.970 NULL pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 132 0 0 75 10 11.7647 G2E3 0 genome.wustl.edu 37 14 31071242 31071242 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 31071242 31071242 T A SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.915 p.N305K 0.001 NULL pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 85 0 0 72 4 5.26316 SCFD1 0 genome.wustl.edu 37 14 31191743 31191743 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 31191743 31191743 A G SNP SCFD1 ENST00000458591 human ensembl 74_37 +1 known missense c.1814 p.Q605R 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD1 HGNC ENSG00000092108 125 0 0 84 9 9.67742 HEATR5A 0 genome.wustl.edu 37 14 31856444 31856444 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 31856444 31856444 A T SNP HEATR5A ENST00000389961 human ensembl 74_37 -1 known nonsense c.1053 p.C351* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC ENSG00000129493 134 0 0 99 29 22.6562 ARHGAP5 0 genome.wustl.edu 37 14 32561822 32561822 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 32561822 32561822 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known nonsense c.1947 p.W649* 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 189 0 0 136 8 5.55556 ARHGAP5 0 genome.wustl.edu 37 14 32562224 32562224 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 32562224 32562224 C T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known silent c.2349 p.C783 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 138 0 0 75 27 26.4706 ARHGAP5 0 genome.wustl.edu 37 14 32562668 32562668 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 32562668 32562668 T C SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known silent c.2793 p.F931 0.998 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 107 0 0 67 5 6.94444 AKAP6 0 genome.wustl.edu 37 14 33290606 33290606 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 33290606 33290606 A G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known splice_site c.3589-2 e12-2 1.000 - - - no_errors AKAP6 HGNC ENSG00000151320 88 0 0 67 9 11.8421 BAZ1A 0 genome.wustl.edu 37 14 35264961 35264961 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 35264961 35264961 T C SNP BAZ1A ENST00000360310 human ensembl 74_37 -1 known missense c.1139 p.K380R 1.000 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 95 0 0 57 4 6.55738 SRP54 0 genome.wustl.edu 37 14 35487907 35487907 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 35487907 35487907 C T SNP SRP54 ENST00000216774 human ensembl 74_37 +1 known missense c.983 p.T328M 1.000 pfam_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particle_SRP54_M,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 96 0 0 52 4 7.14286 PSMA6 0 genome.wustl.edu 37 14 35780027 35780027 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 35780027 35780027 A G SNP PSMA6 ENST00000261479 human ensembl 74_37 +1 known missense c.335 p.D112G 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 94 0 0 65 4 5.7971 PSMA6 0 genome.wustl.edu 37 14 35780041 35780041 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 35780041 35780041 A G SNP PSMA6 ENST00000261479 human ensembl 74_37 +1 known missense c.349 p.R117G 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 97 0 0 69 4 5.47945 INSM2 0 genome.wustl.edu 37 14 36004685 36004685 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 36004685 36004685 C T SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.1227 p.R409 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 57 0 0 55 4 6.77966 RALGAPA1 0 genome.wustl.edu 37 14 36143454 36143454 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 36143454 36143454 T C SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.3472 p.N1158D 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 69 0 0 26 5 16.129 RALGAPA1 0 genome.wustl.edu 37 14 36221254 36221254 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 36221254 36221254 T C SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.778 p.N260D 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 89 0 0 41 7 14.5833 MBIP 0 genome.wustl.edu 37 14 36784000 36784000 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 36784000 36784000 A G SNP MBIP ENST00000416007 human ensembl 74_37 -1 known missense c.371 p.L124P 0.000 NULL NULL - no_errors MBIP HGNC ENSG00000151332 156 0 0 97 10 9.34579 PAX9 0 genome.wustl.edu 37 14 37132275 37132275 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 37132275 37132275 T C SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known missense c.178 p.Y60H 1.000 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 39 0 0 41 4 8.88889 SLC25A21 0 genome.wustl.edu 37 14 37180557 37180557 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 37180557 37180557 T C SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.569 p.Y190C 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 68 0 0 55 14 20.2899 SLC25A21 0 genome.wustl.edu 37 14 37194876 37194876 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 37194876 37194876 C T SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.337 p.A113T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 59 0 0 43 7 14 MIPOL1 0 genome.wustl.edu 37 14 37892127 37892127 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 37892127 37892127 A G SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.1004 p.E335G 1.000 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 33 0 0 19 3 13.6364 MIPOL1 0 genome.wustl.edu 37 14 37969207 37969207 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 37969207 37969207 A G SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.1126 p.I376V 0.854 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 123 0 0 93 13 12.2642 TTC6 0 genome.wustl.edu 37 14 38265994 38265994 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 38265994 38265994 C T SNP TTC6 ENST00000478811 human ensembl 74_37 +1 known missense c.64 p.L22F 0.945 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 115 1 0.862069 79 10 11.236 TTC6 0 genome.wustl.edu 37 14 38295401 38295401 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 38295401 38295401 C T SNP TTC6 ENST00000478811 human ensembl 74_37 +1 known missense c.1169 p.A390V 0.793 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 90 0 0 61 4 6.15385 TTC6 0 genome.wustl.edu 37 14 38296418 38296418 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 38296418 38296418 A G SNP TTC6 ENST00000478811 human ensembl 74_37 +1 known silent c.1338 p.E446 0.999 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 67 0 0 66 7 9.58904 CLEC14A 0 genome.wustl.edu 37 14 38724773 38724773 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 38724773 38724773 A T SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known missense c.455 p.V152D 0.002 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 39 0 0 42 6 12.5 CTAGE5 0 genome.wustl.edu 37 14 39771359 39771359 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 39771359 39771359 G A SNP CTAGE5 ENST00000396158 human ensembl 74_37 +1 known missense c.837 p.M279I 1.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 153 0 0 128 9 6.56934 FBXO33 0 genome.wustl.edu 37 14 39871660 39871660 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 39871660 39871660 T G SNP FBXO33 ENST00000298097 human ensembl 74_37 -1 known missense c.655 p.S219R 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO33 HGNC ENSG00000165355 84 0 0 47 3 6 FSCB 0 genome.wustl.edu 37 14 44975832 44975832 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 44975832 44975832 T C SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.359 p.N120S 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 249 0 0 199 14 6.57277 FSCB 0 genome.wustl.edu 37 14 44976056 44976056 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 44976056 44976056 G T SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.135 p.A45 0.435 NULL NULL - no_errors FSCB HGNC ENSG00000189139 184 0 0 134 11 7.58621 KLHL28 0 genome.wustl.edu 37 14 45398323 45398323 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 45398323 45398323 T C SNP KLHL28 ENST00000396128 human ensembl 74_37 -1 known missense c.1624 p.T542A 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL28 HGNC ENSG00000179454 117 0 0 102 11 9.73451 FAM179B 0 genome.wustl.edu 37 14 45432481 45432481 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 45432481 45432481 G A SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.857 p.R286Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 140 0 0 129 12 8.51064 FAM179B 0 genome.wustl.edu 37 14 45433203 45433203 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 45433203 45433203 C T SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.1579 p.R527C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 177 0 0 137 10 6.80272 FANCM 0 genome.wustl.edu 37 14 45645393 45645393 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 45645393 45645393 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.3436 p.D1146N 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 152 0 0 116 9 7.2 FANCM 0 genome.wustl.edu 37 14 45658140 45658140 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 45658140 45658140 A G SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.4915 p.K1639E 0.066 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 129 1 0.769231 65 4 5.7971 MIS18BP1 0 genome.wustl.edu 37 14 45675336 45675336 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 45675336 45675336 A T SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.3190 p.Y1064N 0.072 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 61 0 0 44 4 8.33333 RPS29 0 genome.wustl.edu 37 14 50050329 50050329 + RNA SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 50050329 50050329 T A SNP RPS29 ENST00000557111 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RPS29 HGNC ENSG00000213741 81 0 0 41 19 31.6667 DNAAF2 0 genome.wustl.edu 37 14 50101028 50101028 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 50101028 50101028 G A SNP DNAAF2 ENST00000298292 human ensembl 74_37 -1 known silent c.840 p.P280 0.986 pfam_PIH pfam_PIH - no_errors DNAAF2 HGNC ENSG00000165506 40 0 0 34 3 8.10811 NEMF 0 genome.wustl.edu 37 14 50255864 50255864 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 50255864 50255864 C T SNP NEMF ENST00000298310 human ensembl 74_37 -1 known silent c.2895 p.K965 1.000 NULL pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom - no_errors NEMF HGNC ENSG00000165525 146 0 0 115 8 6.50407 C14orf183 0 genome.wustl.edu 37 14 50550523 50550523 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 50550523 50550523 G A SNP C14orf183 ENST00000305273 human ensembl 74_37 -1 novel missense c.821 p.T274M 0.000 NULL NULL - no_errors C14orf183 HGNC ENSG00000168260 37 0 0 58 7 10.7692 SOS2 0 genome.wustl.edu 37 14 50647365 50647365 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 50647365 50647365 C A SNP SOS2 ENST00000216373 human ensembl 74_37 -1 known missense c.894 p.Q298H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 45 0 0 30 3 9.09091 MAP4K5 0 genome.wustl.edu 37 14 50904618 50904618 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 50904618 50904618 A G SNP MAP4K5 ENST00000013125 human ensembl 74_37 -1 known missense c.1817 p.L606P 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K5 HGNC ENSG00000012983 143 0 0 103 8 7.20721 NIN 0 genome.wustl.edu 37 14 51210974 51210974 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 51210974 51210974 C A SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.5174 p.S1725I 0.880 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 163 0 0 142 12 7.79221 NIN 0 genome.wustl.edu 37 14 51245521 51245521 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 51245521 51245521 T C SNP NIN ENST00000245441 human ensembl 74_37 -1 known missense c.437 p.H146R 1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 105 0 0 85 8 8.60215 ABHD12B 0 genome.wustl.edu 37 14 51352376 51352376 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 51352376 51352376 A G SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known silent c.531 p.R177 1.000 pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors ABHD12B HGNC ENSG00000131969 133 0 0 107 10 8.54701 FRMD6 0 genome.wustl.edu 37 14 52194524 52194524 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 52194524 52194524 G A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.1646 p.R549K 1.000 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 96 0 0 67 4 5.6338 NID2 0 genome.wustl.edu 37 14 52495506 52495506 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 52495506 52495506 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.2464 p.P822S 0.080 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 91 0 0 55 5 8.33333 NID2 0 genome.wustl.edu 37 14 52534616 52534616 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 52534616 52534616 G A SNP NID2 ENST00000216286 human ensembl 74_37 -1 known missense c.494 p.A165V 1.000 smart_Nidogen_extracell_dom pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 122 0 0 129 12 8.51064 TXNDC16 0 genome.wustl.edu 37 14 52949652 52949652 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 52949652 52949652 A G SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known silent c.1140 p.V380 0.998 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 78 0 0 54 5 8.47458 TXNDC16 0 genome.wustl.edu 37 14 52981596 52981596 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 52981596 52981596 A G SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known splice_site c.605+2 e6+2 1.000 - - - no_errors TXNDC16 HGNC ENSG00000087301 196 0 0 159 14 8.09249 ERO1L 0 genome.wustl.edu 37 14 53133178 53133178 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 53133178 53133178 G T SNP ERO1L ENST00000395686 human ensembl 74_37 -1 known missense c.544 p.L182I 1.000 pfam_Ero1,pirsf_Ero1 pfam_Ero1,pirsf_Ero1 - no_errors ERO1L HGNC ENSG00000197930 38 0 0 31 2 6.06061 DDHD1 0 genome.wustl.edu 37 14 53570477 53570477 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 53570477 53570477 A T SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known missense c.936 p.H312Q 1.000 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 95 0 0 50 6 10.7143 BMP4 0 genome.wustl.edu 37 14 54417455 54417455 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 54417455 54417455 G A SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known silent c.522 p.G174 0.992 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 37 0 0 44 5 10.2041 BMP4 0 genome.wustl.edu 37 14 54418876 54418876 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 54418876 54418876 C T SNP BMP4 ENST00000245451 human ensembl 74_37 -1 known missense c.65 p.S22N 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP4 HGNC ENSG00000125378 69 0 0 87 11 11.2245 SOCS4 0 genome.wustl.edu 37 14 55510474 55510474 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 55510474 55510474 A G SNP SOCS4 ENST00000339298 human ensembl 74_37 +1 known missense c.715 p.T239A 1.000 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 89 0 0 54 7 11.4754 SOCS4 0 genome.wustl.edu 37 14 55510709 55510709 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 55510709 55510709 A G SNP SOCS4 ENST00000339298 human ensembl 74_37 +1 known missense c.950 p.D317G 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS4 HGNC ENSG00000180008 152 1 0.653595 116 16 12.1212 LGALS3 0 genome.wustl.edu 37 14 55609411 55609411 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 55609411 55609411 T C SNP LGALS3 ENST00000254301 human ensembl 74_37 +1 known missense c.541 p.W181R 0.991 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 LGALS3 HGNC ENSG00000131981 127 0 0 95 6 5.94059 TBPL2 0 genome.wustl.edu 37 14 55907245 55907245 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 55907245 55907245 G A SNP TBPL2 ENST00000247219 human ensembl 74_37 -1 known missense c.19 p.P7S 0.000 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC ENSG00000182521 31 0 0 42 5 10.6383 TMEM260 0 genome.wustl.edu 37 14 57070532 57070532 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 57070532 57070532 G A SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known splice_site c.345-1 e4-1 1.000 - - - no_errors TMEM260 HGNC ENSG00000070269 146 0 0 103 9 8.03571 TMEM260 0 genome.wustl.edu 37 14 57088287 57088287 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 57088287 57088287 T C SNP TMEM260 ENST00000261556 human ensembl 74_37 +1 known missense c.1265 p.F422S 1.000 NULL pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 111 0 0 83 7 7.77778 OTX2 0 genome.wustl.edu 37 14 57271037 57271037 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 57271037 57271037 G A SNP OTX2 ENST00000339475 human ensembl 74_37 -1 known missense c.142 p.R48W 0.775 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 41 0 0 42 18 30 EXOC5 0 genome.wustl.edu 37 14 57675501 57675501 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 57675501 57675501 T C SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known silent c.1953 p.L651 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 45 0 0 53 3 5.35714 EXOC5 0 genome.wustl.edu 37 14 57713439 57713439 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 57713439 57713439 T C SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known missense c.260 p.K87R 1.000 NULL pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 262 0 0 161 9 5.29412 NAA30 0 genome.wustl.edu 37 14 57876098 57876098 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 57876098 57876098 T C SNP NAA30 ENST00000556492 human ensembl 74_37 +1 known missense c.953 p.V318A 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA30 HGNC ENSG00000139977 64 0 0 28 3 9.67742 SLC35F4 0 genome.wustl.edu 37 14 58038710 58038710 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 58038710 58038710 C T SNP SLC35F4 ENST00000339762 human ensembl 74_37 -1 known missense c.943 p.G315S 1.000 pfam_DMT,pfam_SLC35_F1/F2/F6 pfam_DMT,pfam_SLC35_F1/F2/F6 - no_errors SLC35F4 HGNC ENSG00000151812 29 0 0 18 7 28 ACTR10 0 genome.wustl.edu 37 14 58701258 58701258 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 58701258 58701258 A G SNP ACTR10 ENST00000254286 human ensembl 74_37 +1 known missense c.1243 p.T415A 1.000 NULL pfam_Actin-related,smart_Actin-related - no_errors ACTR10 HGNC ENSG00000131966 85 0 0 63 4 5.97015 KIAA0586 0 genome.wustl.edu 37 14 58917322 58917322 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 58917322 58917322 G T SNP KIAA0586 ENST00000556134 human ensembl 74_37 +1 known silent c.942 p.T314 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 69 0 0 44 3 6.38298 DACT1 0 genome.wustl.edu 37 14 59112846 59112846 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 59112846 59112846 T C SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known missense c.1505 p.V502A 0.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 107 0 0 134 13 8.84354 PCNXL4 0 genome.wustl.edu 37 14 60574744 60574744 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 60574744 60574744 C A SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.388 p.L130I 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 70 0 0 52 10 16.129 PCNXL4 0 genome.wustl.edu 37 14 60581930 60581930 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 60581930 60581930 A G SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.1108 p.T370A 0.997 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 184 0 0 111 18 13.9535 PCNXL4 0 genome.wustl.edu 37 14 60585237 60585237 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 60585237 60585237 T C SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known missense c.1769 p.L590S 1.000 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 39 0 0 47 6 11.3208 C14orf39 0 genome.wustl.edu 37 14 60903672 60903672 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 60903672 60903672 T G SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known missense c.1655 p.D552A 1.000 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 341 0 0 205 61 22.9323 SIX6 0 genome.wustl.edu 37 14 60976477 60976477 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 60976477 60976477 C T SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known silent c.361 p.L121 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 23 0 0 23 7 23.3333 SIX1 0 genome.wustl.edu 37 14 61115821 61115821 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 61115821 61115821 G A SNP SIX1 ENST00000247182 human ensembl 74_37 -1 known silent c.87 p.R29 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX1 HGNC ENSG00000126778 70 0 0 79 8 9.1954 MNAT1 0 genome.wustl.edu 37 14 61201575 61201575 + RNA SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 61201575 61201575 A T SNP MNAT1 ENST00000553354 human ensembl 74_37 +1 putative rna NULL NULL 0.022 - - - no_errors MNAT1 HGNC ENSG00000020426 56 0 0 55 3 5.17241 MNAT1 0 genome.wustl.edu 37 14 61346478 61346478 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 61346478 61346478 T C SNP MNAT1 ENST00000261245 human ensembl 74_37 +1 known missense c.734 p.L245P 0.989 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,tigrfam_MAT1/Tfb3 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3 - no_errors MNAT1 HGNC ENSG00000020426 87 0 0 57 5 8.06452 PPP2R5E 0 genome.wustl.edu 37 14 63842769 63842769 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 63842769 63842769 C T SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known silent c.1362 p.E454 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 109 0 0 67 12 15.1899 PPP2R5E 0 genome.wustl.edu 37 14 63881929 63881929 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 63881929 63881929 G A SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known nonsense c.478 p.R160* 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 132 0 0 91 9 9 SYNE2 0 genome.wustl.edu 37 14 64608200 64608200 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 64608200 64608200 C T SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.15118 p.L5040F 0.999 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 93 0 0 73 12 14.1176 AKAP5 0 genome.wustl.edu 37 14 64936006 64936006 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 64936006 64936006 G A SNP AKAP5 ENST00000320636 human ensembl 74_37 +1 known silent c.894 p.E298 0.000 NULL pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ENSG00000179841 111 0 0 91 8 8.08081 FNTB 0 genome.wustl.edu 37 14 65521297 65521297 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 65521297 65521297 C T SNP FNTB ENST00000447296 human ensembl 74_37 +1 known missense c.1174 p.R392C 0.981 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors FNTB HGNC ENSG00000257365 15 0 0 12 3 20 GPHN 0 genome.wustl.edu 37 14 67589003 67589003 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 67589003 67589003 G T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.1657 p.G553W 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 82 0 0 42 15 26.3158 MPP5 0 genome.wustl.edu 37 14 67787971 67787971 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 67787971 67787971 A G SNP MPP5 ENST00000261681 human ensembl 74_37 +1 known missense c.1735 p.T579A 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP5 HGNC ENSG00000072415 153 0 0 76 26 25.4902 PLEK2 0 genome.wustl.edu 37 14 67859098 67859098 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 67859098 67859098 A G SNP PLEK2 ENST00000216446 human ensembl 74_37 -1 known missense c.716 p.L239P 0.047 NULL pfam_Pleckstrin_homology,pfam_DEP_dom,smart_Pleckstrin_homology,smart_DEP_dom,pfscan_DEP_dom,pfscan_Pleckstrin_homology - no_errors PLEK2 HGNC ENSG00000100558 130 0 0 89 24 21.2389 PLEKHH1 0 genome.wustl.edu 37 14 68044777 68044777 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 68044777 68044777 C T SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.2612 p.A871V 1.000 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 78 0 0 70 16 18.6047 GALNT16 0 genome.wustl.edu 37 14 69795187 69795187 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 69795187 69795187 C T SNP GALNT16 ENST00000337827 human ensembl 74_37 +1 known missense c.589 p.R197C 0.941 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT16 HGNC ENSG00000100626 105 0 0 127 11 7.97101 SLC10A1 0 genome.wustl.edu 37 14 70263858 70263858 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70263858 70263858 G A SNP SLC10A1 ENST00000216540 human ensembl 74_37 -1 known silent c.15 p.N5 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A1 HGNC ENSG00000100652 46 0 0 29 10 25.641 SLC8A3 0 genome.wustl.edu 37 14 70517823 70517823 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70517823 70517823 G A SNP SLC8A3 ENST00000381269 human ensembl 74_37 -1 known missense c.2033 p.T678I 0.998 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 ENSG00000100678 55 0 0 54 9 14.2857 ADAM21P1 0 genome.wustl.edu 37 14 70712780 70712780 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70712780 70712780 A G SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.905 - - - no_errors ADAM21P1 HGNC ENSG00000235812 168 0 0 139 10 6.71141 ADAM21P1 0 genome.wustl.edu 37 14 70713621 70713621 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70713621 70713621 T C SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ADAM21P1 HGNC ENSG00000235812 86 0 0 64 7 9.85915 ADAM21P1 0 genome.wustl.edu 37 14 70713999 70713999 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70713999 70713999 C T SNP ADAM21P1 ENST00000530196 human ensembl 74_37 -1 known rna NULL NULL 0.735 - - - no_errors ADAM21P1 HGNC ENSG00000235812 106 0 0 86 10 10.4167 ADAM21 0 genome.wustl.edu 37 14 70924308 70924308 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70924308 70924308 C A SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.92 p.A31D 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 128 0 0 119 11 8.46154 ADAM21 0 genome.wustl.edu 37 14 70925509 70925509 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70925509 70925509 C T SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known silent c.1293 p.D431 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 78 0 0 54 12 18.1818 ADAM20 0 genome.wustl.edu 37 14 70989594 70989594 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70989594 70989594 A G SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known silent c.2031 p.S677 0.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 346 0 0 256 23 8.24373 PCNX 0 genome.wustl.edu 37 14 71429014 71429014 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 71429014 71429014 G T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.434 p.R145I 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 236 0 0 163 12 6.85714 PCNX 0 genome.wustl.edu 37 14 71435739 71435739 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 71435739 71435739 A G SNP PCNX ENST00000304743 human ensembl 74_37 +1 known silent c.516 p.G172 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 237 0 0 165 13 7.30337 PCNX 0 genome.wustl.edu 37 14 71444774 71444774 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 71444774 71444774 T C SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.1720 p.S574P 0.517 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 148 0 0 102 34 25 SIPA1L1 0 genome.wustl.edu 37 14 72055054 72055054 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 72055054 72055054 G T SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.465 p.M155I 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 75 0 0 67 7 9.45946 SIPA1L1 0 genome.wustl.edu 37 14 72152235 72152235 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 72152235 72152235 T A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.3261 p.S1087R 0.934 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 43 0 0 40 5 11.1111 RGS6 0 genome.wustl.edu 37 14 72936781 72936781 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 72936781 72936781 G T SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.526 p.A176S 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 109 0 0 62 5 7.46269 DPF3 0 genome.wustl.edu 37 14 73181139 73181139 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 73181139 73181139 A G SNP DPF3 ENST00000366353 human ensembl 74_37 -1 known missense c.761 p.V254A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors DPF3 HGNC ENSG00000205683 73 0 0 71 8 10.1266 PAPLN 0 genome.wustl.edu 37 14 73721271 73721271 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 73721271 73721271 G T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known silent c.1353 p.R451 0.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 129 1 0.769231 138 9 6.12245 NUMB 0 genome.wustl.edu 37 14 73750839 73750839 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 73750839 73750839 T C SNP NUMB ENST00000355058 human ensembl 74_37 -1 known missense c.899 p.E300G 1.000 pfam_Numb_domain,pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 117 0 0 116 9 7.2 HEATR4 0 genome.wustl.edu 37 14 73945354 73945354 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 73945354 73945354 G T SNP HEATR4 ENST00000334988 human ensembl 74_37 -1 known missense c.3038 p.P1013H 0.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors HEATR4 HGNC ENSG00000187105 86 0 0 81 12 12.9032 ACOT2 0 genome.wustl.edu 37 14 74040291 74040291 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74040291 74040291 C T SNP ACOT2 ENST00000238651 human ensembl 74_37 +1 known silent c.843 p.P281 0.014 pfam_BAAT_C,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT2 HGNC ENSG00000119673 115 0 0 94 23 19.6581 DNAL1 0 genome.wustl.edu 37 14 74128725 74128725 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74128725 74128725 T A SNP DNAL1 ENST00000553645 human ensembl 74_37 +1 known missense c.188 p.I63N 1.000 NULL NULL - no_errors DNAL1 HGNC ENSG00000119661 14 0 0 8 3 27.2727 ELMSAN1 0 genome.wustl.edu 37 14 74205679 74205679 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74205679 74205679 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.1033 p.R345C 0.997 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 33 0 0 44 10 18.5185 ELMSAN1 0 genome.wustl.edu 37 14 74206622 74206622 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74206622 74206622 A G SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known silent c.90 p.P30 0.051 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 66 0 0 64 9 12.3288 ELMSAN1 0 genome.wustl.edu 37 14 74206623 74206623 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74206623 74206623 G A SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.89 p.P30L 0.160 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 66 0 0 61 9 12.8571 ALDH6A1 0 genome.wustl.edu 37 14 74534085 74534085 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74534085 74534085 G A SNP ALDH6A1 ENST00000553458 human ensembl 74_37 -1 known missense c.1040 p.A347V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_MeMal-semiAld_DH - no_errors ALDH6A1 HGNC ENSG00000119711 111 0 0 93 12 11.4286 ABCD4 0 genome.wustl.edu 37 14 74758990 74758990 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74758990 74758990 G A SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.1118 p.T373I 0.928 superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom pfam_ABC_Peroxi_TM,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 ABCD4 HGNC ENSG00000119688 65 0 0 69 8 10.3896 VRTN 0 genome.wustl.edu 37 14 74824569 74824569 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74824569 74824569 G A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known silent c.1083 p.P361 0.000 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 40 0 0 36 10 21.7391 SYNDIG1L 0 genome.wustl.edu 37 14 74874616 74874616 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 74874616 74874616 G A SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.494 p.T165I 0.991 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 42 0 0 42 4 8.69565 LTBP2 0 genome.wustl.edu 37 14 75019682 75019682 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 75019682 75019682 A G SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known missense c.1105 p.C369R 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 23 0 0 28 3 9.67742 LTBP2 0 genome.wustl.edu 37 14 75078162 75078162 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 75078162 75078162 C T SNP LTBP2 ENST00000261978 human ensembl 74_37 -1 known silent c.486 p.R162 0.998 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP2 HGNC ENSG00000119681 62 0 0 60 8 11.7647 YLPM1 0 genome.wustl.edu 37 14 75264547 75264547 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 75264547 75264547 G A SNP YLPM1 ENST00000325680 human ensembl 74_37 +1 known silent c.2547 p.Q849 1.000 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 120 0 0 88 6 6.38298 MLH3 0 genome.wustl.edu 37 14 75513923 75513923 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 75513923 75513923 A G SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known silent c.2436 p.S812 0.018 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 121 0 0 82 5 5.74713 MLH3 0 genome.wustl.edu 37 14 75515816 75515816 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 75515816 75515816 C T SNP MLH3 ENST00000355774 human ensembl 74_37 -1 known missense c.543 p.M181I 1.000 superfamily_HATPase_ATP-bd pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_dom,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 72 0 0 55 4 6.77966 FLVCR2 0 genome.wustl.edu 37 14 76107378 76107378 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 76107378 76107378 C T SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.1316 p.S439F 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 115 0 0 104 25 19.3798 TGFB3 0 genome.wustl.edu 37 14 76429788 76429788 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 76429788 76429788 C T SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.797 p.R266H 1.000 pirsf_TGF-beta,prints_Transform_grow_fac_b3 pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 124 0 0 123 12 8.88889 TGFB3 0 genome.wustl.edu 37 14 76437504 76437504 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 76437504 76437504 A T SNP TGFB3 ENST00000238682 human ensembl 74_37 -1 known missense c.611 p.V204D 1.000 pirsf_TGF-beta,pfam_TGF-b_N,prints_TGF-beta pirsf_TGF-beta,pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Transform_grow_fac_b3,prints_TGF-beta - no_errors TGFB3 HGNC ENSG00000119699 104 0 0 112 12 9.67742 IRF2BPL 0 genome.wustl.edu 37 14 77492964 77492964 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 77492964 77492964 C T SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.1172 p.R391H 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 28 0 0 36 4 10 TMEM63C 0 genome.wustl.edu 37 14 77715740 77715740 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 77715740 77715740 G T SNP TMEM63C ENST00000298351 human ensembl 74_37 +1 known missense c.1977 p.Q659H 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC ENSG00000165548 72 0 0 72 8 10 GSTZ1 0 genome.wustl.edu 37 14 77794333 77794333 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 77794333 77794333 G A SNP GSTZ1 ENST00000216465 human ensembl 74_37 +1 known missense c.295 p.V99M 0.996 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom - no_errors GSTZ1 HGNC ENSG00000100577 36 0 0 31 3 8.82353 ISM2 0 genome.wustl.edu 37 14 77942198 77942198 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 77942198 77942198 T C SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known missense c.1456 p.T486A 1.000 pfam_AMOP,smart_AMOP,pfscan_AMOP pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 40 0 0 31 5 13.8889 SNW1 0 genome.wustl.edu 37 14 78198882 78198882 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 78198882 78198882 G A SNP SNW1 ENST00000261531 human ensembl 74_37 -1 known silent c.837 p.H279 1.000 pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 83 0 0 49 3 5.76923 ADCK1 0 genome.wustl.edu 37 14 78285417 78285417 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 78285417 78285417 T C SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known silent c.96 p.N32 1.000 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 140 0 0 100 10 9.09091 DIO2 0 genome.wustl.edu 37 14 80677662 80677662 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 80677662 80677662 G A SNP DIO2 ENST00000422005 human ensembl 74_37 -1 known missense c.154 p.R52W 1.000 pfam_Iodothyronine_deiodinase pfam_Iodothyronine_deiodinase - no_errors DIO2 HGNC ENSG00000211448 37 0 0 34 4 10.5263 TSHR 0 genome.wustl.edu 37 14 81574744 81574744 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 81574744 81574744 A G SNP TSHR ENST00000298171 human ensembl 74_37 +1 known missense c.640 p.T214A 0.996 prints_TSH_rcpt,prints_FSH_rcpt,prints_LSH_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_TSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt - no_errors TSHR HGNC ENSG00000165409 164 0 0 84 21 20 SEL1L 0 genome.wustl.edu 37 14 81993276 81993276 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 81993276 81993276 G A SNP SEL1L ENST00000336735 human ensembl 74_37 -1 known silent c.141 p.D47 1.000 NULL pfam_Sel1-like,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_Sel1-like,pfscan_FN_type2_col-bd - no_errors SEL1L HGNC ENSG00000071537 102 0 0 81 6 6.89655 FLRT2 0 genome.wustl.edu 37 14 86088684 86088684 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 86088684 86088684 C T SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.826 p.R276C 0.990 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 253 0 0 164 48 22.6415 FLRT2 0 genome.wustl.edu 37 14 86089822 86089822 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 86089822 86089822 T C SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known missense c.1964 p.L655P 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 203 1 0.490196 171 20 10.4712 EML5 0 genome.wustl.edu 37 14 89123818 89123818 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 89123818 89123818 A G SNP EML5 ENST00000554922 human ensembl 74_37 -1 known silent c.3906 p.N1302 1.000 NULL pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 45 0 0 34 3 8.10811 EML5 0 genome.wustl.edu 37 14 89206880 89206880 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 89206880 89206880 G A SNP EML5 ENST00000554922 human ensembl 74_37 -1 known nonsense c.562 p.R188* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 189 0 0 141 19 11.875 TTC8 0 genome.wustl.edu 37 14 89338740 89338740 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 89338740 89338740 G A SNP TTC8 ENST00000338104 human ensembl 74_37 +1 known missense c.1339 p.A447T 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 86 0 0 66 21 24.1379 TDP1 0 genome.wustl.edu 37 14 90442125 90442125 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 90442125 90442125 G A SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known missense c.757 p.A253T 1.000 pfam_Tyr-DNA_phospho pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 151 0 0 133 11 7.63889 PSMC1 0 genome.wustl.edu 37 14 90734649 90734649 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 90734649 90734649 A G SNP PSMC1 ENST00000261303 human ensembl 74_37 +1 known missense c.773 p.K258R 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC1 HGNC ENSG00000100764 76 0 0 42 5 10.6383 NRDE2 0 genome.wustl.edu 37 14 90754929 90754929 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 90754929 90754929 C T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known silent c.2790 p.V930 0.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 72 0 0 69 8 10.3896 TTC7B 0 genome.wustl.edu 37 14 91211165 91211165 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 91211165 91211165 C T SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.547 p.A183T 0.997 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 129 0 0 106 19 15.2 TTC7B 0 genome.wustl.edu 37 14 91247091 91247091 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 91247091 91247091 C T SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known missense c.436 p.A146T 0.999 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 111 0 0 79 18 18.5567 GPR68 0 genome.wustl.edu 37 14 91701388 91701388 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 91701388 91701388 T A SNP GPR68 ENST00000238699 human ensembl 74_37 -1 known missense c.37 p.N13Y 1.000 prints_OGR1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 55 0 0 58 8 12.1212 CCDC88C 0 genome.wustl.edu 37 14 91804375 91804375 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 91804375 91804375 C T SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.1024 p.V342M 0.997 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 52 0 0 39 8 17.0213 FBLN5 0 genome.wustl.edu 37 14 92353637 92353637 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 92353637 92353637 G A SNP FBLN5 ENST00000342058 human ensembl 74_37 -1 known silent c.639 p.T213 0.001 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors FBLN5 HGNC ENSG00000140092 113 0 0 104 21 16.8 NDUFB1 0 genome.wustl.edu 37 14 92583937 92583937 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 92583937 92583937 A C SNP NDUFB1 ENST00000329559 human ensembl 74_37 -1 known silent c.186 p.V62 0.031 pfam_NADH_UbQ_OxRdtase_MNLL_su pfam_NADH_UbQ_OxRdtase_MNLL_su - no_errors NDUFB1 HGNC ENSG00000183648 74 0 0 46 14 23.3333 RIN3 0 genome.wustl.edu 37 14 93043784 93043784 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 93043784 93043784 C T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.329 p.A110V 0.022 smart_SH2,pfscan_SH2 pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 164 1 0.606061 114 33 22.449 RIN3 0 genome.wustl.edu 37 14 93154423 93154423 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 93154423 93154423 C T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known silent c.2784 p.D928 0.998 pfscan_Ras-assoc pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 20 0 0 15 5 25 RIN3 0 genome.wustl.edu 37 14 93154499 93154499 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 93154499 93154499 C T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known missense c.2860 p.R954C 0.972 pfscan_Ras-assoc pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 32 0 0 24 5 17.2414 LGMN 0 genome.wustl.edu 37 14 93176081 93176081 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 93176081 93176081 A G SNP LGMN ENST00000334869 human ensembl 74_37 -1 known missense c.956 p.L319P 1.000 NULL pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 168 0 0 170 14 7.6087 LGMN 0 genome.wustl.edu 37 14 93180773 93180773 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 93180773 93180773 A C SNP LGMN ENST00000334869 human ensembl 74_37 -1 known missense c.428 p.I143S 0.979 pfam_Peptidase_C13,prints_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 97 0 0 72 5 6.49351 BTBD7 0 genome.wustl.edu 37 14 93760752 93760752 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 93760752 93760752 C A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.614 p.G205V 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 68 0 0 56 4 6.66667 BTBD7 0 genome.wustl.edu 37 14 93761249 93761249 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 93761249 93761249 G A SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known silent c.117 p.C39 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 146 1 0.680272 76 30 28.3019 UNC79 0 genome.wustl.edu 37 14 94069685 94069685 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 94069685 94069685 T C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.3675 p.R1225 0.967 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 85 0 0 73 8 9.87654 ASB2 0 genome.wustl.edu 37 14 94420793 94420793 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 94420793 94420793 G A SNP ASB2 ENST00000315988 human ensembl 74_37 -1 known silent c.204 p.G68 0.052 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,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,prints_Ankyrin_rpt - no_errors ASB2 HGNC ENSG00000100628 103 0 0 70 32 31.3725 IFI27L1 0 genome.wustl.edu 37 14 94568278 94568278 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 94568278 94568278 C T SNP IFI27L1 ENST00000553664 human ensembl 74_37 +1 putative missense c.247 p.R83W 0.064 NULL NULL - no_errors IFI27L1 HGNC ENSG00000165948 71 0 0 76 8 9.52381 SERPINA6 0 genome.wustl.edu 37 14 94780965 94780965 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 94780965 94780965 G T SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known silent c.21 p.T7 0.737 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 144 0 0 127 15 10.5634 DICER1 0 genome.wustl.edu 37 14 95562437 95562437 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 95562437 95562437 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known missense c.4820 p.R1607Q 0.087 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 368 0 0 261 32 10.9215 CLMN 0 genome.wustl.edu 37 14 95690184 95690184 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 95690184 95690184 T C SNP CLMN ENST00000298912 human ensembl 74_37 -1 known silent c.153 p.P51 0.944 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 51 0 0 43 4 8.51064 SYNE3 0 genome.wustl.edu 37 14 95923565 95923565 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 95923565 95923565 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known silent c.738 p.C246 0.436 smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 110 0 0 123 13 9.55882 TCL1B 0 genome.wustl.edu 37 14 96157234 96157234 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 96157234 96157234 C T SNP TCL1B ENST00000340722 human ensembl 74_37 +1 known silent c.324 p.D108 0.002 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 pfam_TCL1_MTCP1,superfamily_TCL1_MTCP1 - no_errors TCL1B HGNC ENSG00000213231 47 0 0 41 5 10.8696 BDKRB2 0 genome.wustl.edu 37 14 96707571 96707571 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 96707571 96707571 C A SNP BDKRB2 ENST00000306005 human ensembl 74_37 +1 known silent c.906 p.S302 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_2_rcpt,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Brdyknn_2_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt - no_errors BDKRB2 HGNC ENSG00000168398 26 0 0 29 6 17.1429 ATG2B 0 genome.wustl.edu 37 14 96761477 96761477 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 96761477 96761477 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.5246 p.T1749I 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 101 0 0 61 22 26.506 BCL11B 0 genome.wustl.edu 37 14 99697807 99697807 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 99697807 99697807 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.515 p.R172H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 22 0 0 12 4 25 CERS3 0 genome.wustl.edu 37 15 101016374 101016374 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 101016374 101016374 G A SNP CERS3 ENST00000284382 human ensembl 74_37 -1 known missense c.526 p.P176S 1.000 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS3 HGNC ENSG00000154227 114 0 0 76 4 5 LINS 0 genome.wustl.edu 37 15 101109963 101109963 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 101109963 101109963 T A SNP LINS ENST00000314742 human ensembl 74_37 -1 known missense c.1754 p.D585V 0.000 NULL NULL - no_errors LINS HGNC ENSG00000140471 49 0 0 57 5 8.06452 ALDH1A3 0 genome.wustl.edu 37 15 101434180 101434180 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 101434180 101434180 C A SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.559 p.L187M 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 111 0 0 104 11 9.56522 ALDH1A3 0 genome.wustl.edu 37 15 101438337 101438337 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 101438337 101438337 T A SNP ALDH1A3 ENST00000329841 human ensembl 74_37 +1 known missense c.830 p.V277E 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ENSG00000184254 50 0 0 64 5 7.24638 CHSY1 0 genome.wustl.edu 37 15 101719007 101719007 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 101719007 101719007 A G SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.995 p.I332T 0.812 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 73 0 0 80 7 8.04598 TARSL2 0 genome.wustl.edu 37 15 102211755 102211755 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 102211755 102211755 T C SNP TARSL2 ENST00000335968 human ensembl 74_37 -1 known missense c.1901 p.Y634C 1.000 pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC ENSG00000185418 212 0 0 147 8 5.16129 OR4F15 0 genome.wustl.edu 37 15 102358739 102358739 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 102358739 102358739 C T SNP OR4F15 ENST00000332238 human ensembl 74_37 +1 known missense c.350 p.A117V 0.997 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 OR4F15 HGNC ENSG00000182854 189 0 0 163 21 11.413 CYFIP1 0 genome.wustl.edu 37 15 22956546 22956546 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 22956546 22956546 T A SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.1783 p.F595I 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 87 0 0 74 6 7.5 CYFIP1 0 genome.wustl.edu 37 15 23000163 23000163 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 23000163 23000163 C T SNP CYFIP1 ENST00000313077 human ensembl 74_37 +1 known missense c.3517 p.R1173C 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 79 0 0 51 13 20.3125 NIPA2 0 genome.wustl.edu 37 15 23006481 23006481 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 23006481 23006481 G T SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known missense c.823 p.P275T 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 137 0 0 114 11 8.8 NIPA2 0 genome.wustl.edu 37 15 23006661 23006661 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 23006661 23006661 G A SNP NIPA2 ENST00000337451 human ensembl 74_37 -1 known missense c.643 p.H215Y 0.233 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPA2 HGNC ENSG00000140157 133 0 0 110 11 9.09091 GOLGA8I 0 genome.wustl.edu 37 15 23261078 23261078 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 23261078 23261078 G A SNP GOLGA8I ENST00000450802 human ensembl 74_37 +1 known silent c.753 p.R251 0.080 NULL NULL - no_errors GOLGA8I HGNC ENSG00000153666 133 0 0 89 21 19.0909 NDN 0 genome.wustl.edu 37 15 23931990 23931990 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 23931990 23931990 C T SNP NDN ENST00000331837 human ensembl 74_37 -1 known silent c.375 p.V125 0.996 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 123 0 0 90 7 7.21649 SNRPN 0 genome.wustl.edu 37 15 25223574 25223574 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25223574 25223574 C T SNP SNRPN ENST00000444203 human ensembl 74_37 +1 known missense c.718 p.R240C 0.995 pirsf_snRNP-assoc_SmB/SmN pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_snRNP-assoc_SmB/SmN - no_errors SNRPN HGNC ENSG00000128739 211 0 0 199 15 7.00935 SNORD116-16 0 genome.wustl.edu 37 15 25327959 25327959 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25327959 25327959 C T SNP SNORD116-16 ENST00000384533 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD116-16 HGNC ENSG00000207263 169 0 0 124 22 15.0685 SNORD115-41 0 genome.wustl.edu 37 15 25490636 25490636 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25490636 25490636 G T SNP SNORD115-41 ENST00000363608 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors SNORD115-41 HGNC ENSG00000200478 232 0 0 207 21 9.21053 SNORD115-48 0 genome.wustl.edu 37 15 25514961 25514961 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25514961 25514961 A G SNP SNORD115-48 ENST00000364764 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD115-48 HGNC ENSG00000201634 62 0 0 39 4 9.30233 UBE3A 0 genome.wustl.edu 37 15 25616489 25616489 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25616489 25616489 G A SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.841 p.P281S 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 91 0 0 79 8 9.1954 UBE3A 0 genome.wustl.edu 37 15 25616842 25616842 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25616842 25616842 A G SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.488 p.L163S 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 128 0 0 90 10 10 ATP10A 0 genome.wustl.edu 37 15 25926195 25926195 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25926195 25926195 A G SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known silent c.3519 p.F1173 0.999 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 46 0 0 42 5 10.6383 ATP10A 0 genome.wustl.edu 37 15 25966960 25966960 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25966960 25966960 T C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.1207 p.T403A 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 168 0 0 126 12 8.69565 ATP10A 0 genome.wustl.edu 37 15 25981215 25981215 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25981215 25981215 A C SNP ATP10A ENST00000356865 human ensembl 74_37 -1 known missense c.728 p.F243C 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10A HGNC ENSG00000206190 49 0 0 35 5 12.5 GABRA5 0 genome.wustl.edu 37 15 27182338 27182338 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 27182338 27182338 A G SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.587 p.Y196C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 106 0 0 93 5 5.10204 HERC2 0 genome.wustl.edu 37 15 28380769 28380769 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28380769 28380769 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.12085 p.T4029A 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 125 0 0 103 7 6.36364 HERC2 0 genome.wustl.edu 37 15 28386919 28386919 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28386919 28386919 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.11774 p.F3925S 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 266 0 0 204 16 7.27273 HERC2 0 genome.wustl.edu 37 15 28422651 28422651 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28422651 28422651 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.9168 p.G3056 0.999 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 67 0 0 40 8 16.6667 HERC2 0 genome.wustl.edu 37 15 28441714 28441714 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28441714 28441714 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.8013 p.A2671 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 71 0 0 57 8 12.3077 HERC2 0 genome.wustl.edu 37 15 28463797 28463797 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28463797 28463797 T A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.5866 p.N1956Y 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 117 0 0 68 6 8.10811 HERC2 0 genome.wustl.edu 37 15 28525254 28525254 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28525254 28525254 T C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.502 p.K168E 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 103 0 0 93 13 12.2642 ENSG00000237850 0 genome.wustl.edu 37 15 28599994 28599994 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28599994 28599994 C T SNP ENSG00000237850 ENST00000568624 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-483E23.2 Clone_based_vega_gene ENSG00000237850 127 0 0 100 11 9.90991 NDNL2 0 genome.wustl.edu 37 15 29561679 29561679 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 29561679 29561679 C A SNP NDNL2 ENST00000332303 human ensembl 74_37 -1 known silent c.231 p.V77 0.904 NULL pfam_MAGE,pfscan_MAGE - no_errors NDNL2 HGNC ENSG00000185115 54 0 0 40 14 25.9259 MTMR10 0 genome.wustl.edu 37 15 31234015 31234015 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 31234015 31234015 C G SNP MTMR10 ENST00000435680 human ensembl 74_37 -1 known missense c.1992 p.W664C 1.000 pfam_Myotubularin_assoc pfam_Myotubularin_assoc,pfam_Myotubularin-like_Pase_dom - no_errors MTMR10 HGNC ENSG00000166912 47 0 0 43 16 27.1186 TRPM1 0 genome.wustl.edu 37 15 31354888 31354888 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 31354888 31354888 A G SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known missense c.1034 p.L345P 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 91 0 0 73 4 5.19481 TRPM1 0 genome.wustl.edu 37 15 31358307 31358307 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 31358307 31358307 C T SNP TRPM1 ENST00000542188 human ensembl 74_37 -1 known silent c.813 p.K271 0.989 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 165 0 0 148 12 7.5 KLF13 0 genome.wustl.edu 37 15 31664305 31664305 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 31664305 31664305 G A SNP KLF13 ENST00000307145 human ensembl 74_37 +1 known missense c.670 p.E224K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF13 HGNC ENSG00000169926 34 0 0 23 13 36.1111 SCG5 0 genome.wustl.edu 37 15 32936006 32936006 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 32936006 32936006 C T SNP SCG5 ENST00000300175 human ensembl 74_37 +1 known silent c.213 p.P71 0.608 pfam_Secretogranin_V pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 48 0 0 40 6 13.0435 FMN1 0 genome.wustl.edu 37 15 33357235 33357235 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 33357235 33357235 C A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1415 p.G472V 1.000 prints_Formin_Cappuccino_subfam pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 207 0 0 170 21 10.9948 FMN1 0 genome.wustl.edu 37 15 33358942 33358942 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 33358942 33358942 C A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1144 p.G382C 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 123 1 0.806452 109 8 6.83761 FMN1 0 genome.wustl.edu 37 15 33359555 33359555 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 33359555 33359555 A C SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known silent c.531 p.S177 0.001 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 78 0 0 54 20 27.027 RYR3 0 genome.wustl.edu 37 15 33895365 33895365 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 33895365 33895365 C T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1964 p.A655V 0.997 pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 123 0 0 133 14 9.52381 RYR3 0 genome.wustl.edu 37 15 34140608 34140608 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 34140608 34140608 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.13614 p.L4538 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 77 0 0 76 6 7.31707 CHRM5 0 genome.wustl.edu 37 15 34355236 34355236 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 34355236 34355236 G A SNP CHRM5 ENST00000383263 human ensembl 74_37 +1 known nonsense c.318 p.W106* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M5_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM5 HGNC ENSG00000184984 65 0 0 74 5 6.32911 SLC12A6 0 genome.wustl.edu 37 15 34537953 34537953 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 34537953 34537953 T C SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.1738 p.T580A 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 84 0 0 81 5 5.81395 NUTM1 0 genome.wustl.edu 37 15 34648162 34648162 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 34648162 34648162 T C SNP NUTM1 ENST00000333756 human ensembl 74_37 +1 known silent c.1869 p.C623 0.022 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 43 0 0 41 4 8.88889 GJD2 0 genome.wustl.edu 37 15 35045359 35045359 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 35045359 35045359 A T SNP GJD2 ENST00000290374 human ensembl 74_37 -1 known missense c.286 p.Y96N 1.000 pfam_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin36 - no_errors GJD2 HGNC ENSG00000159248 99 0 0 109 10 8.40336 AQR 0 genome.wustl.edu 37 15 35185907 35185907 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 35185907 35185907 T C SNP AQR ENST00000156471 human ensembl 74_37 -1 known missense c.2528 p.N843S 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 272 0 0 201 14 6.51163 C15orf54 0 genome.wustl.edu 37 15 39544627 39544627 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 39544627 39544627 A G SNP C15orf54 ENST00000318578 human ensembl 74_37 +1 known silent c.291 p.Q97 0.819 NULL NULL - no_errors C15orf54 HGNC ENSG00000175746 127 0 0 98 7 6.66667 FSIP1 0 genome.wustl.edu 37 15 40005645 40005645 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40005645 40005645 C T SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known silent c.1188 p.V396 0.966 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 192 0 0 134 9 6.29371 FSIP1 0 genome.wustl.edu 37 15 40068628 40068628 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40068628 40068628 A G SNP FSIP1 ENST00000350221 human ensembl 74_37 -1 known missense c.98 p.V33A 1.000 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 137 0 0 111 12 9.7561 GPR176 0 genome.wustl.edu 37 15 40094113 40094113 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40094113 40094113 A G SNP GPR176 ENST00000561100 human ensembl 74_37 -1 known silent c.768 p.Y256 0.491 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 97 0 0 78 12 13.3333 GPR176 0 genome.wustl.edu 37 15 40099369 40099369 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40099369 40099369 A C SNP GPR176 ENST00000561100 human ensembl 74_37 -1 known missense c.263 p.I88S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 137 0 0 119 11 8.46154 PAK6 0 genome.wustl.edu 37 15 40558052 40558052 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40558052 40558052 C T SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.214 p.R72W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 29 0 0 23 8 25.8065 PLCB2 0 genome.wustl.edu 37 15 40594733 40594733 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40594733 40594733 G A SNP PLCB2 ENST00000260402 human ensembl 74_37 -1 known silent c.309 p.S103 0.667 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB2 HGNC ENSG00000137841 44 0 0 30 9 23.0769 DISP2 0 genome.wustl.edu 37 15 40656101 40656101 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40656101 40656101 A C SNP DISP2 ENST00000267889 human ensembl 74_37 +1 known missense c.395 p.Q132P 0.981 NULL pfscan_SSD - no_errors DISP2 HGNC ENSG00000140323 66 0 0 56 3 5.08475 CHST14 0 genome.wustl.edu 37 15 40764141 40764141 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40764141 40764141 G C SNP CHST14 ENST00000306243 human ensembl 74_37 +1 known missense c.729 p.R243S 0.999 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC ENSG00000169105 170 0 0 152 12 7.31707 CHST14 0 genome.wustl.edu 37 15 40764146 40764146 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40764146 40764146 A G SNP CHST14 ENST00000306243 human ensembl 74_37 +1 known missense c.734 p.Y245C 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST14 HGNC ENSG00000169105 162 0 0 153 13 7.83133 RPUSD2 0 genome.wustl.edu 37 15 40862035 40862035 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40862035 40862035 A G SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.499 p.S167G 1.000 tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 36 0 0 18 5 21.7391 RPUSD2 0 genome.wustl.edu 37 15 40866263 40866263 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40866263 40866263 G A SNP RPUSD2 ENST00000315616 human ensembl 74_37 +1 known missense c.1441 p.A481T 0.000 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC ENSG00000166133 73 0 0 57 4 6.55738 CASC5 0 genome.wustl.edu 37 15 40915370 40915370 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 40915370 40915370 A T SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.2986 p.T996S 0.006 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 76 0 0 47 7 12.963 VPS18 0 genome.wustl.edu 37 15 41191463 41191463 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41191463 41191463 G T SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.447 p.K149N 0.940 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 47 0 0 50 5 9.09091 VPS18 0 genome.wustl.edu 37 15 41192724 41192724 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41192724 41192724 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.1708 p.V570M 0.999 superfamily_ARM-type_fold pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 113 0 0 114 13 10.2362 INO80 0 genome.wustl.edu 37 15 41352087 41352087 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41352087 41352087 A C SNP INO80 ENST00000361937 human ensembl 74_37 -1 known missense c.1820 p.V607G 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors INO80 HGNC ENSG00000128908 103 1 0.961538 75 9 10.7143 EXD1 0 genome.wustl.edu 37 15 41482161 41482161 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41482161 41482161 A T SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known missense c.856 p.S286T 0.789 superfamily_RNaseH-like_dom pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 111 0 0 112 10 8.19672 EXD1 0 genome.wustl.edu 37 15 41509324 41509324 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41509324 41509324 G A SNP EXD1 ENST00000314992 human ensembl 74_37 -1 known silent c.57 p.G19 0.897 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 56 0 0 42 6 12.5 NUSAP1 0 genome.wustl.edu 37 15 41663789 41663789 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41663789 41663789 T A SNP NUSAP1 ENST00000559596 human ensembl 74_37 +1 known missense c.913 p.S305T 1.000 NULL NULL - no_errors NUSAP1 HGNC ENSG00000137804 68 0 0 56 4 6.66667 RPAP1 0 genome.wustl.edu 37 15 41815492 41815492 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41815492 41815492 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known silent c.2497 p.L833 0.997 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 54 0 0 42 6 12.5 MGA 0 genome.wustl.edu 37 15 42028759 42028759 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 42028759 42028759 C T SNP MGA ENST00000219905 human ensembl 74_37 +1 known nonsense c.4297 p.Q1433* 0.987 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 77 0 0 57 7 10.9375 MGA 0 genome.wustl.edu 37 15 42041713 42041713 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 42041713 42041713 A G SNP MGA ENST00000219905 human ensembl 74_37 +1 known missense c.5908 p.R1970G 0.994 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 86 0 0 58 5 7.93651 SPTBN5 0 genome.wustl.edu 37 15 42147511 42147511 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 42147511 42147511 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known nonsense c.9334 p.R3112* 0.001 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 36 0 0 35 3 7.89474 PLA2G4F 0 genome.wustl.edu 37 15 42437796 42437796 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 42437796 42437796 T C SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.1763 p.Y588C 0.008 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 125 0 0 134 10 6.94444 ZNF106 0 genome.wustl.edu 37 15 42731697 42731697 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 42731697 42731697 C T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.4009 p.A1337T 0.983 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 154 0 0 138 13 8.60927 CDAN1 0 genome.wustl.edu 37 15 43021290 43021290 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43021290 43021290 G A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.2576 p.P859L 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 106 0 0 79 16 16.8421 CDAN1 0 genome.wustl.edu 37 15 43026186 43026186 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43026186 43026186 A T SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known missense c.1317 p.N439K 1.000 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 101 0 0 64 9 12.3288 UBR1 0 genome.wustl.edu 37 15 43367236 43367236 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43367236 43367236 A G SNP UBR1 ENST00000290650 human ensembl 74_37 -1 known missense c.469 p.W157R 1.000 pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 379 0 0 238 65 21.4521 EPB42 0 genome.wustl.edu 37 15 43500968 43500968 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43500968 43500968 G A SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known nonsense c.928 p.R310* 0.988 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 38 0 0 38 13 25.4902 LCMT2 0 genome.wustl.edu 37 15 43622496 43622496 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43622496 43622496 C T SNP LCMT2 ENST00000305641 human ensembl 74_37 -1 known silent c.192 p.R64 0.522 pfam_LCM_MeTrfase pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 44 0 0 45 9 16.6667 TP53BP1 0 genome.wustl.edu 37 15 43701152 43701152 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43701152 43701152 T C SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.5543 p.Y1848C 1.000 superfamily_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 99 0 0 83 14 14.433 TP53BP1 0 genome.wustl.edu 37 15 43714210 43714210 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43714210 43714210 A G SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.3943 p.S1315P 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 88 0 0 94 8 7.84314 TP53BP1 0 genome.wustl.edu 37 15 43733752 43733752 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43733752 43733752 A T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.3070 p.S1024T 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 183 0 0 118 11 8.52713 MAP1A 0 genome.wustl.edu 37 15 43817621 43817621 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43817621 43817621 T C SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.3950 p.L1317P 0.997 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 105 0 0 86 10 10.4167 STRC 0 genome.wustl.edu 37 15 43892737 43892737 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43892737 43892737 A G SNP STRC ENST00000450892 human ensembl 74_37 -1 known missense c.4988 p.I1663T 0.994 NULL NULL - no_errors STRC HGNC ENSG00000242866 74 0 0 48 13 21.3115 CATSPER2 0 genome.wustl.edu 37 15 43924970 43924970 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43924970 43924970 G T SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known silent c.1341 p.S447 0.003 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 147 0 0 144 11 7.09677 CKMT1A 0 genome.wustl.edu 37 15 43991208 43991208 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43991208 43991208 A G SNP CKMT1A ENST00000413453 human ensembl 74_37 +1 known missense c.1175 p.Y392C 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT1A HGNC ENSG00000223572 180 0 0 123 16 11.5108 CATSPER2P1 0 genome.wustl.edu 37 15 44029113 44029113 + RNA SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 44029113 44029113 A T SNP CATSPER2P1 ENST00000381680 human ensembl 74_37 -1 known rna NULL NULL 0.699 - - - no_errors CATSPER2P1 HGNC ENSG00000205771 95 0 0 86 7 7.52688 SPG11 0 genome.wustl.edu 37 15 44877948 44877948 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 44877948 44877948 A G SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known silent c.5007 p.L1669 0.994 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 144 0 0 102 7 6.42202 DUOX2 0 genome.wustl.edu 37 15 45398417 45398417 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 45398417 45398417 A G SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.2054 p.V685A 0.960 NULL pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 34 0 0 42 5 10.6383 DUOXA1 0 genome.wustl.edu 37 15 45415136 45415136 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 45415136 45415136 C A SNP DUOXA1 ENST00000267803 human ensembl 74_37 -1 known missense c.77 p.S26I 0.639 pfam_Dual_oxidase_maturation_fac pfam_Dual_oxidase_maturation_fac - no_errors DUOXA1 HGNC ENSG00000140254 91 0 0 89 10 10.101 DUOX1 0 genome.wustl.edu 37 15 45445594 45445594 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 45445594 45445594 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.3441 p.G1147 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 178 0 0 162 36 18.1818 SEMA6D 0 genome.wustl.edu 37 15 48060784 48060784 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48060784 48060784 A G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.1772 p.E591G 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 68 0 0 47 3 6 SEMA6D 0 genome.wustl.edu 37 15 48063628 48063628 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48063628 48063628 T G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.2868 p.T956 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 110 0 0 92 9 8.91089 SEMA6D 0 genome.wustl.edu 37 15 48063661 48063661 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48063661 48063661 T A SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2901 p.N967K 0.916 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 118 0 0 83 8 8.79121 SEMA6D 0 genome.wustl.edu 37 15 48063820 48063820 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48063820 48063820 T C SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.3060 p.H1020 0.996 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 160 0 0 150 9 5.66038 DUT 0 genome.wustl.edu 37 15 48626625 48626625 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48626625 48626625 A G SNP DUT ENST00000331200 human ensembl 74_37 +1 known missense c.431 p.Y144C 0.995 pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf pfam_dUTP_pyroPase,tigrfam_dUTP_pyroPase_sf - no_errors DUT HGNC ENSG00000128951 80 0 0 60 6 9.09091 FBN1 0 genome.wustl.edu 37 15 48717623 48717623 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48717623 48717623 A G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.7396 p.Y2466H 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 77 0 0 81 6 6.89655 FBN1 0 genome.wustl.edu 37 15 48796050 48796050 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48796050 48796050 A G SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.2047 p.C683R 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 141 0 0 109 8 6.83761 FBN1 0 genome.wustl.edu 37 15 48829959 48829959 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48829959 48829959 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.585 p.C195 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 126 0 0 123 12 8.88889 FBN1 0 genome.wustl.edu 37 15 48936859 48936859 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48936859 48936859 T C SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.108 p.E36 0.951 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 169 0 0 169 22 11.5183 FBN1 0 genome.wustl.edu 37 15 48936889 48936889 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 48936889 48936889 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known silent c.78 p.D26 0.392 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 120 0 0 131 12 8.39161 CEP152 0 genome.wustl.edu 37 15 49081124 49081124 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 49081124 49081124 A G SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known silent c.1047 p.S349 0.741 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 161 0 0 123 13 9.55882 SHC4 0 genome.wustl.edu 37 15 49135610 49135610 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 49135610 49135610 G A SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known silent c.1479 p.C493 0.001 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 198 0 0 139 31 18.2353 SHC4 0 genome.wustl.edu 37 15 49176493 49176493 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 49176493 49176493 C T SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known silent c.792 p.L264 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,prints_PID_Shc-like pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 78 0 0 65 7 9.72222 SECISBP2L 0 genome.wustl.edu 37 15 49292172 49292172 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 49292172 49292172 T G SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.2261 p.E754A 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 132 0 0 71 19 21.1111 SECISBP2L 0 genome.wustl.edu 37 15 49325281 49325281 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 49325281 49325281 T C SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.545 p.Q182R 0.939 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 83 0 0 55 7 11.2903 GALK2 0 genome.wustl.edu 37 15 49509474 49509474 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 49509474 49509474 A T SNP GALK2 ENST00000560031 human ensembl 74_37 +1 known missense c.230 p.Y77F 0.066 superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,tigrfam_Galactokinase - no_errors GALK2 HGNC ENSG00000156958 135 0 0 123 9 6.81818 DTWD1 0 genome.wustl.edu 37 15 49926794 49926794 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 49926794 49926794 A G SNP DTWD1 ENST00000251250 human ensembl 74_37 +1 known missense c.470 p.Q157R 1.000 pfam_DTW pfam_DTW - no_errors DTWD1 HGNC ENSG00000104047 118 0 0 76 5 6.17284 ATP8B4 0 genome.wustl.edu 37 15 50264895 50264895 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 50264895 50264895 G A SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1127 p.T376M 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 63 0 0 50 13 20.6349 HDC 0 genome.wustl.edu 37 15 50535355 50535355 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 50535355 50535355 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known silent c.1227 p.V409 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 73 0 0 59 6 9.23077 USP8 0 genome.wustl.edu 37 15 50769071 50769071 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 50769071 50769071 A G SNP USP8 ENST00000307179 human ensembl 74_37 +1 known missense c.875 p.N292S 0.986 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 120 0 0 83 12 12.6316 TRPM7 0 genome.wustl.edu 37 15 50886647 50886647 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 50886647 50886647 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.3454 p.D1152N 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 279 0 0 147 14 8.69565 AP4E1 0 genome.wustl.edu 37 15 51260462 51260462 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51260462 51260462 A G SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known silent c.1854 p.V618 0.995 superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 34 0 0 19 3 13.6364 AP4E1 0 genome.wustl.edu 37 15 51285692 51285692 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51285692 51285692 A T SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.2216 p.E739V 0.460 pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 54 0 0 30 5 14.2857 TNFAIP8L3 0 genome.wustl.edu 37 15 51350349 51350349 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51350349 51350349 G A SNP TNFAIP8L3 ENST00000327536 human ensembl 74_37 -1 known missense c.608 p.T203I 0.992 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8L3 HGNC ENSG00000183578 96 0 0 99 16 13.913 GLDN 0 genome.wustl.edu 37 15 51634204 51634204 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51634204 51634204 G A SNP GLDN ENST00000335449 human ensembl 74_37 +1 known missense c.323 p.S108N 1.000 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 61 0 0 62 27 30.3371 GLDN 0 genome.wustl.edu 37 15 51689758 51689758 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51689758 51689758 C T SNP GLDN ENST00000335449 human ensembl 74_37 +1 known silent c.780 p.G260 0.802 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC ENSG00000186417 55 0 0 53 7 11.6667 DMXL2 0 genome.wustl.edu 37 15 51828742 51828742 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51828742 51828742 T A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.1935 p.R645S 0.965 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 71 0 0 43 5 10.4167 MAPK6 0 genome.wustl.edu 37 15 52339143 52339143 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 52339143 52339143 G A SNP MAPK6 ENST00000261845 human ensembl 74_37 +1 known silent c.486 p.T162 0.414 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK6 HGNC ENSG00000069956 130 0 0 85 21 19.8113 MYO5C 0 genome.wustl.edu 37 15 52503982 52503982 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 52503982 52503982 T C SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.4241 p.N1414S 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 191 0 0 181 14 7.17949 MYO5C 0 genome.wustl.edu 37 15 52564895 52564895 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 52564895 52564895 C T SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.632 p.R211H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5C HGNC ENSG00000128833 90 0 0 51 14 21.5385 MYO5A 0 genome.wustl.edu 37 15 52680091 52680091 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 52680091 52680091 C A SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known nonsense c.1687 p.G563* 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 107 0 0 69 4 5.47945 MYO5A 0 genome.wustl.edu 37 15 52689518 52689518 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 52689518 52689518 C T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.1199 p.R400H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 75 0 0 40 17 29.8246 ARPP19 0 genome.wustl.edu 37 15 52849361 52849361 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 52849361 52849361 C T SNP ARPP19 ENST00000249822 human ensembl 74_37 -1 known missense c.104 p.R35K 1.000 pfam_Endosulphine pfam_Endosulphine - no_errors ARPP19 HGNC ENSG00000128989 137 0 0 91 11 10.7843 FAM214A 0 genome.wustl.edu 37 15 52902186 52902186 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 52902186 52902186 C T SNP FAM214A ENST00000261844 human ensembl 74_37 -1 known missense c.925 p.D309N 0.996 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 33 0 0 27 4 12.9032 ONECUT1 0 genome.wustl.edu 37 15 53081207 53081207 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 53081207 53081207 A G SNP ONECUT1 ENST00000305901 human ensembl 74_37 -1 known missense c.875 p.I292T 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT1 HGNC ENSG00000169856 129 0 0 96 8 7.69231 UNC13C 0 genome.wustl.edu 37 15 54307698 54307698 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 54307698 54307698 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.2598 p.D866 0.735 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 90 0 0 66 7 9.58904 UNC13C 0 genome.wustl.edu 37 15 54307737 54307737 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 54307737 54307737 T C SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.2637 p.V879 0.981 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 131 0 0 74 9 10.8434 RAB27A 0 genome.wustl.edu 37 15 55516108 55516108 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55516108 55516108 A G SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known missense c.446 p.I149T 0.835 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 265 0 0 210 18 7.89474 RAB27A 0 genome.wustl.edu 37 15 55522617 55522617 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55522617 55522617 T A SNP RAB27A ENST00000336787 human ensembl 74_37 -1 known missense c.221 p.D74V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,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,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27A HGNC ENSG00000069974 136 0 0 127 12 8.63309 CCPG1 0 genome.wustl.edu 37 15 55652398 55652398 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55652398 55652398 A T SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known missense c.1573 p.F525I 1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 191 0 0 141 17 10.7595 MIR628 0 genome.wustl.edu 37 15 55665215 55665215 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55665215 55665215 A G SNP MIR628 ENST00000385229 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR628 HGNC ENSG00000207964 61 0 0 41 8 16.3265 PRTG 0 genome.wustl.edu 37 15 55971497 55971497 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55971497 55971497 T G SNP PRTG ENST00000389286 human ensembl 74_37 -1 known missense c.1120 p.K374Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors PRTG HGNC ENSG00000166450 86 0 0 42 4 8.69565 RFX7 0 genome.wustl.edu 37 15 56388470 56388470 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 56388470 56388470 T C SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.1456 p.N486D 0.009 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 71 0 0 61 4 6.15385 TEX9 0 genome.wustl.edu 37 15 56719831 56719831 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 56719831 56719831 T A SNP TEX9 ENST00000352903 human ensembl 74_37 +1 known missense c.992 p.I331N 1.000 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 128 0 0 85 9 9.57447 GCOM1 0 genome.wustl.edu 37 15 57925827 57925827 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 57925827 57925827 T A SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known missense c.821 p.F274Y 0.985 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 94 0 0 86 12 12.2449 FAM81A 0 genome.wustl.edu 37 15 59752285 59752285 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 59752285 59752285 T C SNP FAM81A ENST00000288228 human ensembl 74_37 +1 known silent c.174 p.I58 0.968 NULL superfamily_Ferritin-like_SF - no_errors FAM81A HGNC ENSG00000157470 100 0 0 90 6 6.25 NARG2 0 genome.wustl.edu 37 15 60741267 60741267 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 60741267 60741267 T G SNP NARG2 ENST00000261520 human ensembl 74_37 -1 known missense c.1899 p.K633N 1.000 NULL pfam_NARG2_C - no_errors NARG2 HGNC ENSG00000128915 122 0 0 90 7 7.21649 VPS13C 0 genome.wustl.edu 37 15 62155653 62155653 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 62155653 62155653 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known silent c.10938 p.L3646 0.316 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 77 0 0 63 6 8.69565 VPS13C 0 genome.wustl.edu 37 15 62208153 62208153 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 62208153 62208153 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known silent c.8124 p.G2708 0.683 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 63 0 0 64 7 9.85915 VPS13C 0 genome.wustl.edu 37 15 62210431 62210431 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 62210431 62210431 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.7664 p.F2555S 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 113 0 0 85 8 8.60215 VPS13C 0 genome.wustl.edu 37 15 62251774 62251774 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 62251774 62251774 A G SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.3929 p.I1310T 0.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 52 0 0 45 12 21.0526 VPS13C 0 genome.wustl.edu 37 15 62253854 62253854 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 62253854 62253854 T C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.3842 p.E1281G 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 97 0 0 77 7 8.33333 TLN2 0 genome.wustl.edu 37 15 62945511 62945511 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 62945511 62945511 A T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.515 p.D172V 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 44 0 0 28 4 12.5 TLN2 0 genome.wustl.edu 37 15 63031735 63031735 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 63031735 63031735 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known silent c.3876 p.G1292 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 62 0 0 51 5 8.92857 USP3 0 genome.wustl.edu 37 15 63862713 63862713 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 63862713 63862713 C T SNP USP3 ENST00000559873 human ensembl 74_37 +1 known missense c.173 p.T58M 0.998 NULL NULL - no_errors USP3 HGNC ENSG00000140455 95 0 0 70 26 27.0833 HERC1 0 genome.wustl.edu 37 15 63904619 63904619 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 63904619 63904619 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.14231 p.Y4744C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 91 0 0 69 10 12.6582 HERC1 0 genome.wustl.edu 37 15 63937702 63937702 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 63937702 63937702 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.11058 p.K3686 0.987 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 47 0 0 25 3 10.7143 HERC1 0 genome.wustl.edu 37 15 63950833 63950833 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 63950833 63950833 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.9509 p.R3170H 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 70 0 0 45 6 11.7647 HERC1 0 genome.wustl.edu 37 15 64011049 64011049 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 64011049 64011049 A G SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.3790 p.S1264P 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 105 0 0 76 4 5 HERC1 0 genome.wustl.edu 37 15 64067600 64067600 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 64067600 64067600 G A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known nonsense c.223 p.Q75* 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 59 0 0 40 3 6.97674 ZNF609 0 genome.wustl.edu 37 15 64915123 64915123 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 64915123 64915123 T C SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.845 p.V282A 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 125 0 0 143 12 7.74194 ZNF609 0 genome.wustl.edu 37 15 64973005 64973005 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 64973005 64973005 A G SNP ZNF609 ENST00000326648 human ensembl 74_37 +1 known missense c.4106 p.H1369R 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 74 0 0 77 9 10.4651 RBPMS2 0 genome.wustl.edu 37 15 65041207 65041207 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 65041207 65041207 C T SNP RBPMS2 ENST00000300069 human ensembl 74_37 -1 known missense c.410 p.R137Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS2 HGNC ENSG00000166831 47 0 0 64 5 7.24638 PIF1 0 genome.wustl.edu 37 15 65111388 65111388 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 65111388 65111388 G A SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known silent c.1368 p.N456 1.000 pfam_DNA_helicase_Pif1,superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 47 0 0 29 6 17.1429 PIF1 0 genome.wustl.edu 37 15 65112130 65112130 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 65112130 65112130 G A SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known nonsense c.1249 p.R417* 1.000 pfam_DNA_helicase_Pif1,superfamily_P-loop_NTPase pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 81 0 0 84 8 8.69565 MTFMT 0 genome.wustl.edu 37 15 65308852 65308852 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 65308852 65308852 A G SNP MTFMT ENST00000220058 human ensembl 74_37 -1 known silent c.735 p.S245 0.653 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,tigrfam_Fmt pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt - no_errors MTFMT HGNC ENSG00000103707 194 0 0 136 14 9.33333 DPP8 0 genome.wustl.edu 37 15 65746615 65746615 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 65746615 65746615 A G SNP DPP8 ENST00000341861 human ensembl 74_37 -1 known missense c.2305 p.S769P 1.000 pfam_Peptidase_S9,pfam_X-Pro-like_dom pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP8 HGNC ENSG00000074603 100 0 0 69 7 9.21053 DENND4A 0 genome.wustl.edu 37 15 65956734 65956734 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 65956734 65956734 T C SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known splice_site c.5520-2 e30-2 0.998 - - - no_errors DENND4A HGNC ENSG00000174485 56 0 0 43 5 10.4167 DENND4A 0 genome.wustl.edu 37 15 65983416 65983416 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 65983416 65983416 A G SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known silent c.3513 p.S1171 0.005 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 51 0 0 43 6 12.2449 RAB11A 0 genome.wustl.edu 37 15 66170134 66170134 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 66170134 66170134 T C SNP RAB11A ENST00000261890 human ensembl 74_37 +1 known missense c.271 p.Y91H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11A HGNC ENSG00000103769 106 0 0 97 8 7.61905 SMAD6 0 genome.wustl.edu 37 15 67004041 67004041 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 67004041 67004041 C T SNP SMAD6 ENST00000288840 human ensembl 74_37 +1 known missense c.853 p.R285C 0.358 superfamily_SMAD_FHA_domain pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC ENSG00000137834 72 0 0 81 8 8.98876 SMAD6 0 genome.wustl.edu 37 15 67004051 67004051 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 67004051 67004051 A G SNP SMAD6 ENST00000288840 human ensembl 74_37 +1 known missense c.863 p.Y288C 1.000 superfamily_SMAD_FHA_domain pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC ENSG00000137834 70 0 0 70 8 10.2564 SMAD6 0 genome.wustl.edu 37 15 67073423 67073423 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 67073423 67073423 T A SNP SMAD6 ENST00000288840 human ensembl 74_37 +1 known nonsense c.1041 p.Y347* 0.998 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD6 HGNC ENSG00000137834 15 0 0 22 2 8.33333 SMAD3 0 genome.wustl.edu 37 15 67482849 67482849 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 67482849 67482849 G A SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.1253 p.S418N 1.000 pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD3 HGNC ENSG00000166949 33 0 0 32 6 15.7895 IQCH 0 genome.wustl.edu 37 15 67692609 67692609 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 67692609 67692609 A G SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.2063 p.Y688C 0.030 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 46 0 0 41 6 12.766 SKOR1 0 genome.wustl.edu 37 15 68118726 68118726 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 68118726 68118726 G T SNP SKOR1 ENST00000380035 human ensembl 74_37 +1 known missense c.560 p.C187F 1.000 pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 74 0 0 70 10 12.5 PIAS1 0 genome.wustl.edu 37 15 68378712 68378712 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 68378712 68378712 C T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known silent c.93 p.H31 1.000 smart_SAP_dom,pfscan_SAP_dom pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 38 0 0 25 2 7.40741 PIAS1 0 genome.wustl.edu 37 15 68438930 68438930 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 68438930 68438930 C T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known silent c.720 p.G240 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 122 0 0 84 8 8.69565 ITGA11 0 genome.wustl.edu 37 15 68608055 68608055 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 68608055 68608055 C T SNP ITGA11 ENST00000315757 human ensembl 74_37 -1 known missense c.2726 p.R909H 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA11 HGNC ENSG00000137809 15 0 0 10 6 37.5 GLCE 0 genome.wustl.edu 37 15 69548299 69548299 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 69548299 69548299 T C SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.154 p.F52L 0.761 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 65 0 0 58 12 17.1429 KIF23 0 genome.wustl.edu 37 15 69737152 69737152 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 69737152 69737152 C T SNP KIF23 ENST00000260363 human ensembl 74_37 +1 known silent c.2403 p.N801 0.692 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF23 HGNC ENSG00000137807 79 0 0 62 6 8.82353 RPLP1 0 genome.wustl.edu 37 15 69747800 69747800 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 69747800 69747800 A G SNP RPLP1 ENST00000260379 human ensembl 74_37 +1 known missense c.299 p.E100G 1.000 pfam_Ribosomal_L10/L12 pfam_Ribosomal_L10/L12 - no_errors RPLP1 HGNC ENSG00000137818 41 0 0 34 4 10.5263 LRRC49 0 genome.wustl.edu 37 15 71196973 71196973 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 71196973 71196973 A T SNP LRRC49 ENST00000260382 human ensembl 74_37 +1 known missense c.379 p.I127L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC49 HGNC ENSG00000137821 126 0 0 80 9 10.1124 THSD4 0 genome.wustl.edu 37 15 72050275 72050275 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 72050275 72050275 G A SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known missense c.2450 p.R817H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 52 0 0 47 11 18.9655 GRAMD2 0 genome.wustl.edu 37 15 72455965 72455965 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 72455965 72455965 G A SNP GRAMD2 ENST00000309731 human ensembl 74_37 -1 known missense c.734 p.P245L 0.942 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC ENSG00000175318 38 0 0 40 5 11.1111 PARP6 0 genome.wustl.edu 37 15 72552962 72552962 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 72552962 72552962 C T SNP PARP6 ENST00000287196 human ensembl 74_37 -1 known missense c.613 p.V205I 1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 492 1 0.20284 448 37 7.62887 CELF6 0 genome.wustl.edu 37 15 72580706 72580706 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 72580706 72580706 C A SNP CELF6 ENST00000569547 human ensembl 74_37 -1 known missense c.1261 p.A421S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF6 Uniprot_gn ENSG00000273025 178 0 0 164 12 6.81818 NEO1 0 genome.wustl.edu 37 15 73542047 73542047 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 73542047 73542047 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known nonsense c.1879 p.R627* 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 169 0 0 132 12 8.33333 NEO1 0 genome.wustl.edu 37 15 73547093 73547093 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 73547093 73547093 G A SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.2015 p.R672H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 218 0 0 120 49 28.9941 NEO1 0 genome.wustl.edu 37 15 73575319 73575319 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 73575319 73575319 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known missense c.3277 p.H1093Y 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 382 0 0 341 24 6.57534 HCN4 0 genome.wustl.edu 37 15 73635998 73635998 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 73635998 73635998 T C SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.937 p.N313D 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 44 0 0 53 5 8.62069 CD276 0 genome.wustl.edu 37 15 73994658 73994658 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 73994658 73994658 C A SNP CD276 ENST00000318443 human ensembl 74_37 +1 known missense c.142 p.L48M 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 25 0 0 25 8 24.2424 PML 0 genome.wustl.edu 37 15 74315214 74315214 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74315214 74315214 G A SNP PML ENST00000268058 human ensembl 74_37 +1 known silent c.648 p.A216 0.818 pfscan_Znf_B-box pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 27 0 0 18 3 14.2857 PML 0 genome.wustl.edu 37 15 74315245 74315245 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74315245 74315245 T C SNP PML ENST00000268058 human ensembl 74_37 +1 known missense c.679 p.C227R 0.761 NULL pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors PML HGNC ENSG00000140464 28 0 0 16 2 11.1111 ISLR2 0 genome.wustl.edu 37 15 74427037 74427037 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74427037 74427037 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known missense c.1942 p.R648C 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 50 0 0 66 5 7.04225 ISLR2 0 genome.wustl.edu 37 15 74427273 74427273 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74427273 74427273 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known silent c.2178 p.G726 0.098 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 66 0 0 65 4 5.7971 CCDC33 0 genome.wustl.edu 37 15 74565210 74565210 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74565210 74565210 T C SNP CCDC33 ENST00000321288 human ensembl 74_37 +1 known missense c.1346 p.V449A 0.165 NULL pfam_C2_dom,superfamily_C2_dom - no_errors CCDC33 HGNC ENSG00000140481 111 0 0 100 11 9.90991 SEMA7A 0 genome.wustl.edu 37 15 74708178 74708178 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74708178 74708178 C A SNP SEMA7A ENST00000261918 human ensembl 74_37 -1 known missense c.950 p.R317M 0.209 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA7A HGNC ENSG00000138623 37 0 0 52 4 7.14286 UBL7 0 genome.wustl.edu 37 15 74741564 74741564 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74741564 74741564 G A SNP UBL7 ENST00000361351 human ensembl 74_37 -1 known missense c.845 p.P282L 0.998 NULL pfam_Ubiquitin_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBL7 HGNC ENSG00000138629 68 0 0 53 6 10.1695 ARID3B 0 genome.wustl.edu 37 15 74888103 74888103 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 74888103 74888103 C A SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known missense c.1671 p.S557R 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 55 0 0 45 4 8.16327 LMAN1L 0 genome.wustl.edu 37 15 75117871 75117871 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 75117871 75117871 G A SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known silent c.1506 p.L502 0.002 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 150 0 0 127 40 23.9521 NEIL1 0 genome.wustl.edu 37 15 75646609 75646609 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 75646609 75646609 G A SNP NEIL1 ENST00000355059 human ensembl 74_37 +1 known missense c.865 p.A289T 1.000 pfam_Endonuclease-VIII_DNA-bd pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL1 HGNC ENSG00000140398 78 0 0 90 10 10 MAN2C1 0 genome.wustl.edu 37 15 75648486 75648486 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 75648486 75648486 C T SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known nonsense c.2961 p.W987* 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 31 0 0 30 3 9.09091 CSPG4 0 genome.wustl.edu 37 15 75969124 75969124 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 75969124 75969124 G A SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.5736 p.S1912 0.033 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 43 0 0 58 5 7.93651 TSPAN3 0 genome.wustl.edu 37 15 77348527 77348527 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 77348527 77348527 A G SNP TSPAN3 ENST00000267970 human ensembl 74_37 -1 known missense c.134 p.F45S 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN3 HGNC ENSG00000140391 145 0 0 129 32 19.8758 ENSG00000261244 0 genome.wustl.edu 37 15 78208916 78208916 + RNA SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 78208916 78208916 C G SNP ENSG00000261244 ENST00000565869 human ensembl 74_37 +1 known rna NULL NULL 0.569 - - - no_errors RP11-114H24.7 Clone_based_vega_gene ENSG00000261244 74 0 0 66 4 5.71429 CIB2 0 genome.wustl.edu 37 15 78398176 78398176 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 78398176 78398176 G A SNP CIB2 ENST00000258930 human ensembl 74_37 -1 known silent c.447 p.C149 0.786 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CIB2 HGNC ENSG00000136425 61 0 0 69 5 6.75676 IREB2 0 genome.wustl.edu 37 15 78732142 78732142 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 78732142 78732142 G A SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.25 p.A9T 0.053 superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 56 0 0 30 6 16.6667 PSMA4 0 genome.wustl.edu 37 15 78834954 78834954 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 78834954 78834954 T C SNP PSMA4 ENST00000044462 human ensembl 74_37 +1 known missense c.176 p.V59A 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA4 HGNC ENSG00000041357 222 0 0 144 21 12.7273 PSMA4 0 genome.wustl.edu 37 15 78841185 78841185 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 78841185 78841185 A G SNP PSMA4 ENST00000044462 human ensembl 74_37 +1 known missense c.685 p.K229E 1.000 NULL pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA4 HGNC ENSG00000041357 99 0 0 55 20 26.6667 CHRNB4 0 genome.wustl.edu 37 15 78922159 78922159 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 78922159 78922159 T C SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.488 p.D163G 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 65 0 0 50 18 26.4706 RASGRF1 0 genome.wustl.edu 37 15 79288103 79288103 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 79288103 79288103 C T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.3054 p.T1018 0.181 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 83 0 0 84 5 5.61798 KIAA1024 0 genome.wustl.edu 37 15 79748674 79748674 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 79748674 79748674 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.185 p.A62V 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 112 0 0 94 9 8.73786 KIAA1024 0 genome.wustl.edu 37 15 79749496 79749496 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 79749496 79749496 C T SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.1007 p.A336V 1.000 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 106 0 0 112 10 8.19672 BCL2A1 0 genome.wustl.edu 37 15 80263396 80263396 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 80263396 80263396 C T SNP BCL2A1 ENST00000267953 human ensembl 74_37 -1 known silent c.66 p.Q22 0.424 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Bcl2A1,prints_Blc2_fam - no_errors BCL2A1 HGNC ENSG00000140379 94 0 0 91 7 7.14286 TMC3 0 genome.wustl.edu 37 15 81650613 81650613 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 81650613 81650613 A G SNP TMC3 ENST00000359440 human ensembl 74_37 -1 known missense c.620 p.V207A 0.995 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 147 0 0 131 11 7.74648 MEX3B 0 genome.wustl.edu 37 15 82336468 82336468 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 82336468 82336468 A G SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.743 p.V248A 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 118 0 0 95 11 10.3774 FAM154B 0 genome.wustl.edu 37 15 82575356 82575356 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 82575356 82575356 G A SNP FAM154B ENST00000339465 human ensembl 74_37 +1 known missense c.1150 p.G384S 0.999 NULL NULL - no_errors FAM154B HGNC ENSG00000188659 71 0 0 45 8 15.0943 CPEB1 0 genome.wustl.edu 37 15 83240228 83240228 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83240228 83240228 G A SNP CPEB1 ENST00000562019 human ensembl 74_37 -1 known missense c.245 p.A82V 1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 161 1 0.617284 140 10 6.66667 FSD2 0 genome.wustl.edu 37 15 83456128 83456128 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83456128 83456128 C T SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known silent c.15 p.S5 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 119 0 0 104 8 7.14286 WHAMM 0 genome.wustl.edu 37 15 83481966 83481966 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83481966 83481966 T C SNP WHAMM ENST00000286760 human ensembl 74_37 +1 known missense c.721 p.Y241H 1.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC ENSG00000156232 48 0 0 27 3 10 C15orf40 0 genome.wustl.edu 37 15 83677350 83677350 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83677350 83677350 A T SNP C15orf40 ENST00000451195 human ensembl 74_37 -1 known missense c.316 p.Y106N 0.957 pfam_DUF167,superfamily_DUF167 pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC ENSG00000169609 113 0 0 96 9 8.57143 TM6SF1 0 genome.wustl.edu 37 15 83805252 83805252 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83805252 83805252 G A SNP TM6SF1 ENST00000379386 human ensembl 74_37 +1 known missense c.950 p.G317D 1.000 pfam_Transmembrane_6/97 pfam_Transmembrane_6/97 - no_errors TM6SF1 HGNC ENSG00000136404 130 0 0 96 8 7.69231 BNC1 0 genome.wustl.edu 37 15 83931934 83931934 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83931934 83931934 C A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.2069 p.R690M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 118 0 0 78 10 11.3636 BNC1 0 genome.wustl.edu 37 15 83932495 83932495 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83932495 83932495 T G SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.1508 p.N503T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 81 0 0 71 5 6.57895 ZSCAN2 0 genome.wustl.edu 37 15 85164124 85164124 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 85164124 85164124 G A SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known missense c.698 p.R233Q 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 96 0 0 99 8 7.47664 ZNF592 0 genome.wustl.edu 37 15 85327807 85327807 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 85327807 85327807 G A SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.1901 p.R634Q 0.988 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 75 0 0 61 5 7.57576 ALPK3 0 genome.wustl.edu 37 15 85383526 85383526 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 85383526 85383526 G A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1622 p.R541H 0.001 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 45 0 0 36 10 21.7391 ALPK3 0 genome.wustl.edu 37 15 85383680 85383680 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 85383680 85383680 C A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.1776 p.A592 0.032 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 27 0 0 19 11 36.6667 ALPK3 0 genome.wustl.edu 37 15 85399886 85399886 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 85399886 85399886 G A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known silent c.2523 p.T841 0.002 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 52 0 0 33 13 28.2609 AKAP13 0 genome.wustl.edu 37 15 86122596 86122596 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 86122596 86122596 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.1297 p.P433S 0.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 110 0 0 76 8 9.52381 AGBL1 0 genome.wustl.edu 37 15 86697774 86697774 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 86697774 86697774 C T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.238 p.R80C 1.000 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 52 0 0 32 4 11.1111 AGBL1 0 genome.wustl.edu 37 15 86790986 86790986 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 86790986 86790986 C A SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known missense c.473 p.A158D 0.025 superfamily_ARM-type_fold pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 30 0 0 37 12 24.4898 NTRK3 0 genome.wustl.edu 37 15 88678533 88678533 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 88678533 88678533 A G SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.1003 p.W335R 1.000 pfam_Ig_I-set pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 93 0 0 77 10 11.4943 NTRK3 0 genome.wustl.edu 37 15 88726694 88726694 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 88726694 88726694 C G SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known missense c.350 p.S117T 1.000 prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 168 0 0 159 11 6.47059 AEN 0 genome.wustl.edu 37 15 89169940 89169940 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 89169940 89169940 A G SNP AEN ENST00000379231 human ensembl 74_37 +1 known missense c.500 p.H167R 1.000 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors AEN HGNC ENSG00000181026 56 0 0 61 4 6.15385 POLG 0 genome.wustl.edu 37 15 89864450 89864450 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 89864450 89864450 G A SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.2640 p.A880 0.869 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 43 0 0 54 17 23.9437 POLG 0 genome.wustl.edu 37 15 89871936 89871936 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 89871936 89871936 C T SNP POLG ENST00000268124 human ensembl 74_37 -1 known missense c.1150 p.D384N 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 140 0 0 156 11 6.58683 WDR93 0 genome.wustl.edu 37 15 90276280 90276280 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 90276280 90276280 C T SNP WDR93 ENST00000268130 human ensembl 74_37 +1 known silent c.1374 p.C458 0.981 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 178 0 0 171 15 8.06452 ANPEP 0 genome.wustl.edu 37 15 90344794 90344794 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 90344794 90344794 G A SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known silent c.1614 p.D538 0.008 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 44 0 0 45 12 21.0526 ANPEP 0 genome.wustl.edu 37 15 90349552 90349552 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 90349552 90349552 G A SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.263 p.T88M 0.001 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 72 0 0 59 10 14.4928 TTLL13 0 genome.wustl.edu 37 15 90802126 90802126 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 90802126 90802126 T C SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.1319 p.L440P 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 111 0 0 84 13 13.4021 ZNF774 0 genome.wustl.edu 37 15 90902116 90902116 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 90902116 90902116 G A SNP ZNF774 ENST00000354377 human ensembl 74_37 +1 known silent c.138 p.E46 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF774 HGNC ENSG00000196391 54 0 0 38 6 13.6364 BLM 0 genome.wustl.edu 37 15 91292795 91292795 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91292795 91292795 A G SNP BLM ENST00000355112 human ensembl 74_37 +1 known silent c.297 p.T99 0.000 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 62 0 0 69 6 8 BLM 0 genome.wustl.edu 37 15 91293254 91293254 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91293254 91293254 T G SNP BLM ENST00000355112 human ensembl 74_37 +1 known silent c.756 p.A252 0.649 NULL pfam_RQC_domain,pfam_BDHCT,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_HRDC-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors BLM HGNC ENSG00000197299 80 0 0 61 4 6.15385 FES 0 genome.wustl.edu 37 15 91430451 91430451 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91430451 91430451 G A SNP FES ENST00000328850 human ensembl 74_37 +1 known silent c.519 p.V173 0.594 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 79 0 0 77 22 22.2222 FES 0 genome.wustl.edu 37 15 91436381 91436381 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91436381 91436381 C T SNP FES ENST00000328850 human ensembl 74_37 +1 known silent c.1878 p.C626 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 22 0 0 15 4 21.0526 FES 0 genome.wustl.edu 37 15 91436956 91436956 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91436956 91436956 A T SNP FES ENST00000328850 human ensembl 74_37 +1 known silent c.2118 p.R706 0.997 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,superfamily_t-SNARE,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FES HGNC ENSG00000182511 90 0 0 84 9 9.67742 MAN2A2 0 genome.wustl.edu 37 15 91456571 91456571 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91456571 91456571 G A SNP MAN2A2 ENST00000360468 human ensembl 74_37 +1 known missense c.2653 p.A885T 1.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A2 HGNC ENSG00000196547 56 0 0 62 9 12.6761 UNC45A 0 genome.wustl.edu 37 15 91491946 91491946 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91491946 91491946 T A SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known nonsense c.1800 p.Y600* 0.060 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 43 0 0 48 3 5.88235 UNC45A 0 genome.wustl.edu 37 15 91496278 91496278 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91496278 91496278 T C SNP UNC45A ENST00000418476 human ensembl 74_37 +1 known splice_site c.2421+2 e18+2 1.000 - - - no_errors UNC45A HGNC ENSG00000140553 50 0 0 58 5 7.93651 RCCD1 0 genome.wustl.edu 37 15 91504966 91504966 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91504966 91504966 C A SNP RCCD1 ENST00000394258 human ensembl 74_37 +1 known silent c.1098 p.T366 0.953 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RCCD1 HGNC ENSG00000166965 112 1 0.884956 86 19 18.0952 SV2B 0 genome.wustl.edu 37 15 91769874 91769874 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 91769874 91769874 C T SNP SV2B ENST00000330276 human ensembl 74_37 +1 known silent c.381 p.F127 0.937 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2B HGNC ENSG00000185518 77 0 0 64 4 5.88235 ST8SIA2 0 genome.wustl.edu 37 15 92981597 92981597 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 92981597 92981597 A G SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known missense c.305 p.K102R 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 237 0 0 226 16 6.61157 C15orf32 0 genome.wustl.edu 37 15 93015547 93015547 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 93015547 93015547 A T SNP C15orf32 ENST00000333334 human ensembl 74_37 +1 known missense c.169 p.M57L 0.000 NULL NULL - no_errors C15orf32 HGNC ENSG00000183643 118 0 0 125 11 8.08824 C15orf32 0 genome.wustl.edu 37 15 93015736 93015736 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 93015736 93015736 A G SNP C15orf32 ENST00000333334 human ensembl 74_37 +1 known missense c.358 p.N120D 0.000 NULL NULL - no_errors C15orf32 HGNC ENSG00000183643 112 0 0 96 7 6.79612 ENSG00000258741 0 genome.wustl.edu 37 15 93277269 93277269 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 93277269 93277269 C T SNP ENSG00000258741 ENST00000556424 human ensembl 74_37 -1 known rna NULL NULL 0.982 - - - no_errors RP11-386M24.4 Clone_based_vega_gene ENSG00000258741 41 0 0 48 7 12.7273 CHD2 0 genome.wustl.edu 37 15 93482927 93482927 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 93482927 93482927 G A SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known missense c.671 p.R224Q 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 126 0 0 102 13 11.3043 CHD2 0 genome.wustl.edu 37 15 93489068 93489068 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 93489068 93489068 T C SNP CHD2 ENST00000420239 human ensembl 74_37 +1 known missense c.1171 p.S391P 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CHD2 HGNC ENSG00000173575 49 0 0 40 3 6.97674 IGF1R 0 genome.wustl.edu 37 15 99251247 99251247 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 99251247 99251247 G T SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.551 p.G184V 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors IGF1R HGNC ENSG00000140443 103 0 0 98 7 6.66667 SYNM 0 genome.wustl.edu 37 15 99669820 99669820 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 99669820 99669820 G A SNP SYNM ENST00000336292 human ensembl 74_37 +1 known missense c.1252 p.V418I 0.000 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 140 0 0 106 32 23.1884 NUBP1 0 genome.wustl.edu 37 16 10846529 10846529 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 10846529 10846529 A G SNP NUBP1 ENST00000283027 human ensembl 74_37 +1 known silent c.321 p.G107 1.000 pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Anion-transp_ATPase-like_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NUBP1 HGNC ENSG00000103274 131 0 0 112 10 8.19672 CIITA 0 genome.wustl.edu 37 16 11001075 11001075 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 11001075 11001075 G A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.1726 p.A576T 0.001 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 41 0 0 35 14 28.5714 CLEC16A 0 genome.wustl.edu 37 16 11217761 11217761 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 11217761 11217761 G T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2431 p.G811C 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 21 0 0 22 4 15.3846 SSTR5 0 genome.wustl.edu 37 16 1129571 1129571 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 1129571 1129571 G A SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known missense c.703 p.V235M 0.106 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 24 0 0 25 9 26.4706 RSL1D1 0 genome.wustl.edu 37 16 11941581 11941581 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 11941581 11941581 T C SNP RSL1D1 ENST00000571133 human ensembl 74_37 -1 known missense c.328 p.T110A 1.000 pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like pfam_Ribosomal_L1/biogenesis,superfamily_Ribosomal_L1-like - no_errors RSL1D1 HGNC ENSG00000171490 115 0 0 78 6 7.14286 SNX29 0 genome.wustl.edu 37 16 12450122 12450122 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 12450122 12450122 G A SNP SNX29 ENST00000306030 human ensembl 74_37 +1 known missense c.730 p.D244N 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX29 HGNC ENSG00000048471 21 0 0 17 9 34.6154 CACNA1H 0 genome.wustl.edu 37 16 1250495 1250495 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 1250495 1250495 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.1043 p.R348H 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 34 0 0 37 4 9.7561 ERCC4 0 genome.wustl.edu 37 16 14020418 14020418 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 14020418 14020418 G A SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.389 p.G130D 1.000 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 157 0 0 111 10 8.26446 NPRL3 0 genome.wustl.edu 37 16 142647 142647 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 142647 142647 A G SNP NPRL3 ENST00000399953 human ensembl 74_37 -1 known silent c.1108 p.L370 1.000 pfam_NPR3 pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 23 0 0 34 4 10.5263 NOMO1 0 genome.wustl.edu 37 16 14951484 14951484 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 14951484 14951484 C T SNP NOMO1 ENST00000287667 human ensembl 74_37 +1 known missense c.1192 p.P398S 1.000 superfamily_CarboxyPept-like_regulatory pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 187 0 0 145 22 13.1737 NTAN1 0 genome.wustl.edu 37 16 15131997 15131997 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 15131997 15131997 A T SNP NTAN1 ENST00000287706 human ensembl 74_37 -1 known nonsense c.824 p.L275* 1.000 NULL NULL - no_errors NTAN1 HGNC ENSG00000157045 92 0 0 50 23 31.5068 RRN3 0 genome.wustl.edu 37 16 15180276 15180276 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 15180276 15180276 A G SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known silent c.288 p.R96 0.308 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 178 0 0 108 13 10.7438 MYH11 0 genome.wustl.edu 37 16 15815483 15815483 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 15815483 15815483 G T SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known silent c.4395 p.A1465 0.302 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 85 0 0 78 5 6.0241 ABCC6 0 genome.wustl.edu 37 16 16257015 16257015 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 16257015 16257015 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.3341 p.R1114H 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 53 0 0 43 9 17.3077 ABCC6 0 genome.wustl.edu 37 16 16302603 16302603 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 16302603 16302603 T C SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.776 p.N259S 0.000 tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 69 0 0 61 6 8.95522 XYLT1 0 genome.wustl.edu 37 16 17228514 17228514 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 17228514 17228514 A G SNP XYLT1 ENST00000261381 human ensembl 74_37 -1 known missense c.1843 p.Y615H 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT1 HGNC ENSG00000103489 133 0 0 121 14 10.3704 IGFALS 0 genome.wustl.edu 37 16 1840991 1840991 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 1840991 1840991 G A SNP IGFALS ENST00000415638 human ensembl 74_37 -1 known silent c.1542 p.D514 0.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors IGFALS HGNC ENSG00000099769 19 0 0 25 8 24.2424 NOMO2 0 genome.wustl.edu 37 16 18542829 18542829 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 18542829 18542829 A G SNP NOMO2 ENST00000381474 human ensembl 74_37 -1 known missense c.1496 p.V499A 1.000 superfamily_Carb-bd-like_fold pfam_DUF2012,superfamily_Carb-bd-like_fold,superfamily_CarboxyPept-like_regulatory,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO2 HGNC ENSG00000185164 243 0 0 210 22 9.48276 ABCC6P1 0 genome.wustl.edu 37 16 18602471 18602471 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 18602471 18602471 G T SNP ABCC6P1 ENST00000546162 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCC6P1 HGNC ENSG00000256340 82 0 0 50 5 9.09091 ARL6IP1 0 genome.wustl.edu 37 16 18806808 18806808 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 18806808 18806808 A C SNP ARL6IP1 ENST00000304414 human ensembl 74_37 -1 known missense c.386 p.L129R 0.998 pfam_Reticulon pfam_Reticulon - no_errors ARL6IP1 HGNC ENSG00000170540 107 0 0 57 8 12.3077 SMG1 0 genome.wustl.edu 37 16 18847478 18847478 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 18847478 18847478 A G SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known silent c.7834 p.L2612 0.999 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 28 0 0 15 5 25 ITPRIPL2 0 genome.wustl.edu 37 16 19126266 19126266 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 19126266 19126266 C T SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known silent c.483 p.S161 1.000 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 25 0 0 33 3 8.33333 ITPRIPL2 0 genome.wustl.edu 37 16 19126792 19126792 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 19126792 19126792 C A SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known missense c.1009 p.L337I 1.000 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 56 0 0 51 7 12.069 ITPRIPL2 0 genome.wustl.edu 37 16 19126815 19126815 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 19126815 19126815 G T SNP ITPRIPL2 ENST00000381440 human ensembl 74_37 +1 known missense c.1032 p.E344D 0.976 NULL NULL - no_errors ITPRIPL2 HGNC ENSG00000205730 59 0 0 60 8 11.7647 SYT17 0 genome.wustl.edu 37 16 19195180 19195180 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 19195180 19195180 G A SNP SYT17 ENST00000355377 human ensembl 74_37 +1 known missense c.662 p.R221H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT17 HGNC ENSG00000103528 114 0 0 103 31 23.1343 CCP110 0 genome.wustl.edu 37 16 19548587 19548587 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 19548587 19548587 G A SNP CCP110 ENST00000381396 human ensembl 74_37 +1 known silent c.1596 p.E532 0.999 NULL NULL - no_errors CCP110 HGNC ENSG00000103540 78 0 0 74 8 9.7561 C16orf62 0 genome.wustl.edu 37 16 19627476 19627476 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 19627476 19627476 A G SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.1331 p.N444S 1.000 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 147 0 0 78 8 9.30233 C16orf62 0 genome.wustl.edu 37 16 19680566 19680566 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 19680566 19680566 A T SNP C16orf62 ENST00000438132 human ensembl 74_37 +1 known missense c.2573 p.E858V 0.990 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 101 0 0 67 11 14.1026 UMOD 0 genome.wustl.edu 37 16 20352615 20352615 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 20352615 20352615 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.1474 p.R492W 0.966 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 45 0 0 44 4 8.33333 PDILT 0 genome.wustl.edu 37 16 20386160 20386160 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 20386160 20386160 A G SNP PDILT ENST00000302451 human ensembl 74_37 -1 known missense c.665 p.V222A 0.883 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors PDILT HGNC ENSG00000169340 116 0 0 102 9 8.10811 LOC81691 0 genome.wustl.edu 37 16 20851156 20851156 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 20851156 20851156 T A SNP LOC81691 ENST00000261377 human ensembl 74_37 +1 known missense c.1463 p.V488D 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_RRM_dom,superfamily_RNaseH-like_dom,smart_Exonuclease,smart_RRM_dom,pfscan_RRM_dom - no_errors AC004381.6 Clone_based_vega_gene ENSG00000005189 232 0 0 198 23 10.4072 DNAH3 0 genome.wustl.edu 37 16 20975196 20975196 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 20975196 20975196 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.10010 p.T3337M 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 148 0 0 100 32 24.2424 DNAH3 0 genome.wustl.edu 37 16 21031117 21031117 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 21031117 21031117 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5851 p.L1951F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 86 0 0 71 8 10.1266 DNAH3 0 genome.wustl.edu 37 16 21061243 21061243 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 21061243 21061243 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.4335 p.A1445 0.888 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 152 0 0 115 7 5.7377 DNAH3 0 genome.wustl.edu 37 16 21086796 21086796 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 21086796 21086796 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.3056 p.T1019M 0.000 pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 131 0 0 81 23 22.1154 CRYM 0 genome.wustl.edu 37 16 21273385 21273385 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 21273385 21273385 C A SNP CRYM ENST00000219599 human ensembl 74_37 -1 known missense c.768 p.K256N 0.977 pfam_ODC_Mu_crystall pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd - no_errors CRYM HGNC ENSG00000103316 72 0 0 69 6 8 PKD1 0 genome.wustl.edu 37 16 2140480 2140480 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2140480 2140480 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.12250 p.P4084S 0.014 pfam_PKD1_2_channel pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 16 0 0 26 3 10.3448 PKD1 0 genome.wustl.edu 37 16 2147934 2147934 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2147934 2147934 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.10102 p.D3368N 0.993 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 23 0 0 13 4 23.5294 PKD1 0 genome.wustl.edu 37 16 2160411 2160411 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2160411 2160411 T A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.4757 p.D1586V 1.000 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 46 0 0 46 5 9.80392 METTL9 0 genome.wustl.edu 37 16 21624098 21624098 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 21624098 21624098 T C SNP METTL9 ENST00000358154 human ensembl 74_37 +1 known missense c.298 p.Y100H 1.000 pfam_DREV_MeTrfase pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 86 0 0 53 4 7.01754 PKD1 0 genome.wustl.edu 37 16 2164608 2164608 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2164608 2164608 C T SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.2416 p.V806M 0.025 tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 12 0 0 7 4 36.3636 POLR3E 0 genome.wustl.edu 37 16 22335840 22335840 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 22335840 22335840 T C SNP POLR3E ENST00000299853 human ensembl 74_37 +1 known missense c.1145 p.V382A 1.000 pfam_RNA_pol_III_Rpc5 pfam_RNA_pol_III_Rpc5 - no_errors POLR3E HGNC ENSG00000058600 147 0 0 125 12 8.75912 LOC653786 0 genome.wustl.edu 37 16 22558294 22558294 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 22558294 22558294 C T SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 114 0 0 83 11 11.7021 HS3ST2 0 genome.wustl.edu 37 16 22926539 22926539 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 22926539 22926539 G A SNP HS3ST2 ENST00000261374 human ensembl 74_37 +1 known missense c.760 p.V254M 0.980 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 112 0 0 89 36 28.8 USP31 0 genome.wustl.edu 37 16 23079803 23079803 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 23079803 23079803 C A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.3623 p.S1208I 0.003 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 129 0 0 139 16 10.3226 USP31 0 genome.wustl.edu 37 16 23079919 23079919 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 23079919 23079919 G A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known silent c.3507 p.S1169 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 78 0 0 70 10 12.5 SCNN1G 0 genome.wustl.edu 37 16 23208672 23208672 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 23208672 23208672 A G SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.1001 p.Q334R 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 89 0 0 73 8 9.87654 SCNN1G 0 genome.wustl.edu 37 16 23223385 23223385 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 23223385 23223385 A G SNP SCNN1G ENST00000300061 human ensembl 74_37 +1 known missense c.1207 p.M403V 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1G HGNC ENSG00000166828 87 0 0 88 8 8.33333 ABCA3 0 genome.wustl.edu 37 16 2333349 2333349 + Nonsense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2333349 2333349 G C SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known nonsense c.3873 p.Y1291* 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 47 0 0 40 9 18.3673 SCNN1B 0 genome.wustl.edu 37 16 23366710 23366710 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 23366710 23366710 A G SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.811 p.I271V 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 63 0 0 64 7 9.85915 SCNN1B 0 genome.wustl.edu 37 16 23383173 23383173 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 23383173 23383173 A G SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known missense c.1256 p.Y419C 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 70 0 0 73 6 7.59494 NDUFAB1 0 genome.wustl.edu 37 16 23607444 23607444 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 23607444 23607444 C A SNP NDUFAB1 ENST00000007516 human ensembl 74_37 -1 known missense c.168 p.Q56H 1.000 NULL pfam_Acyl_carrier_prot-like,superfamily_Acyl_carrier_prot-like,pfscan_Acyl_carrier_prot-like,tigrfam_Acyl_carrier - no_errors NDUFAB1 HGNC ENSG00000004779 36 0 0 30 8 21.0526 PRKCB 0 genome.wustl.edu 37 16 24192144 24192144 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24192144 24192144 T C SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known silent c.1428 p.S476 0.006 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,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 119 0 0 74 25 25.2525 RBBP6 0 genome.wustl.edu 37 16 24578545 24578545 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24578545 24578545 A T SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known silent c.1671 p.V557 0.538 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 73 0 0 82 6 6.81818 RBBP6 0 genome.wustl.edu 37 16 24581095 24581095 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24581095 24581095 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known silent c.3084 p.V1028 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 124 1 0.8 81 25 23.5849 TNRC6A 0 genome.wustl.edu 37 16 24802947 24802947 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24802947 24802947 T C SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.2984 p.I995T 0.999 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 68 0 0 55 4 6.77966 SLC5A11 0 genome.wustl.edu 37 16 24919375 24919375 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24919375 24919375 T G SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known missense c.1357 p.S453A 1.000 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 SLC5A11 HGNC ENSG00000158865 174 0 0 161 26 13.9037 SLC5A11 0 genome.wustl.edu 37 16 24922695 24922695 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24922695 24922695 G A SNP SLC5A11 ENST00000347898 human ensembl 74_37 +1 known nonsense c.1869 p.W623* 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A11 HGNC ENSG00000158865 196 0 0 172 15 8.02139 ARHGAP17 0 genome.wustl.edu 37 16 24950789 24950789 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24950789 24950789 T C SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known silent c.1620 p.P540 1.000 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 32 0 0 33 3 8.33333 ARHGAP17 0 genome.wustl.edu 37 16 24955129 24955129 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 24955129 24955129 T C SNP ARHGAP17 ENST00000289968 human ensembl 74_37 -1 known silent c.1296 p.E432 0.278 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP17 HGNC ENSG00000140750 125 0 0 86 10 10.4167 TBC1D24 0 genome.wustl.edu 37 16 2546590 2546590 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2546590 2546590 C T SNP TBC1D24 ENST00000293970 human ensembl 74_37 +1 known silent c.441 p.D147 0.919 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 40 0 0 43 5 10.4167 IL4R 0 genome.wustl.edu 37 16 27374122 27374122 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 27374122 27374122 T G SNP IL4R ENST00000170630 human ensembl 74_37 +1 known silent c.1449 p.T483 0.000 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 96 0 0 61 27 30.6818 IL21R 0 genome.wustl.edu 37 16 27454346 27454346 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 27454346 27454346 G A SNP IL21R ENST00000337929 human ensembl 74_37 +1 known missense c.416 p.R139H 0.077 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL21R HGNC ENSG00000103522 120 0 0 100 20 16.6667 GTF3C1 0 genome.wustl.edu 37 16 27499693 27499693 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 27499693 27499693 G A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known silent c.3555 p.S1185 0.001 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 156 0 0 143 9 5.92105 KCTD5 0 genome.wustl.edu 37 16 2752389 2752389 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2752389 2752389 C T SNP KCTD5 ENST00000564195 human ensembl 74_37 +1 putative nonsense c.493 p.R165* 0.965 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD5 HGNC ENSG00000167977 78 0 0 76 17 18.2796 KIAA0556 0 genome.wustl.edu 37 16 27761012 27761012 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 27761012 27761012 C T SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.2731 p.R911W 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 55 0 0 57 9 13.6364 SRRM2 0 genome.wustl.edu 37 16 2812491 2812491 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2812491 2812491 A G SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.1962 p.R654 0.086 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 79 0 0 100 8 7.40741 SRRM2 0 genome.wustl.edu 37 16 2814127 2814127 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 2814127 2814127 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known silent c.3598 p.L1200 0.939 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 162 0 0 123 32 20.6452 SULT1A2 0 genome.wustl.edu 37 16 28604874 28604874 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 28604874 28604874 G A SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known missense c.388 p.R130C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 63 0 0 66 18 21.4286 ATXN2L 0 genome.wustl.edu 37 16 28844557 28844557 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 28844557 28844557 G A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.1837 p.A613T 0.173 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 81 0 0 77 18 18.9474 ATXN2L 0 genome.wustl.edu 37 16 28845679 28845679 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 28845679 28845679 C A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known missense c.2188 p.P730T 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 107 1 0.925926 100 8 7.40741 ATXN2L 0 genome.wustl.edu 37 16 28847720 28847720 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 28847720 28847720 G A SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known silent c.3213 p.P1071 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 52 0 0 38 15 28.3019 SH2B1 0 genome.wustl.edu 37 16 28883270 28883270 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 28883270 28883270 C T SNP SH2B1 ENST00000322610 human ensembl 74_37 +1 known silent c.1479 p.P493 0.999 NULL pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SH2B1 HGNC ENSG00000178188 35 0 0 41 3 6.81818 RABEP2 0 genome.wustl.edu 37 16 28916347 28916347 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 28916347 28916347 G A SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known missense c.1627 p.R543C 1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 29 0 0 31 8 20.5128 RABEP2 0 genome.wustl.edu 37 16 28931258 28931258 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 28931258 28931258 A G SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known missense c.281 p.I94T 1.000 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 43 0 0 27 6 18.1818 PRRT2 0 genome.wustl.edu 37 16 29825671 29825671 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 29825671 29825671 G A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known silent c.897 p.Q299 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 140 0 0 134 12 8.21918 SEZ6L2 0 genome.wustl.edu 37 16 29891331 29891331 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 29891331 29891331 G T SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.1427 p.T476N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 56 0 0 56 15 21.1268 TAOK2 0 genome.wustl.edu 37 16 29990778 29990778 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 29990778 29990778 T C SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.604 p.Y202H 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 TAOK2 HGNC ENSG00000149930 25 0 0 29 4 12.1212 TAOK2 0 genome.wustl.edu 37 16 29992970 29992970 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 29992970 29992970 C T SNP TAOK2 ENST00000416441 human ensembl 74_37 +1 known missense c.125 p.P42L 0.000 NULL superfamily_Kinase-like_dom - no_errors TAOK2 HGNC ENSG00000149930 63 0 0 79 6 7.05882 DOC2A 0 genome.wustl.edu 37 16 30017638 30017638 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30017638 30017638 C T SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.1072 p.G358R 1.000 superfamily_C2_dom,smart_C2_dom,pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 23 0 0 28 7 20 CD2BP2 0 genome.wustl.edu 37 16 30364758 30364758 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30364758 30364758 A G SNP CD2BP2 ENST00000305596 human ensembl 74_37 -1 known missense c.739 p.S247P 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC ENSG00000169217 65 0 0 81 7 7.95455 ITGAL 0 genome.wustl.edu 37 16 30507514 30507514 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30507514 30507514 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1600 p.D534N 1.000 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 147 0 0 153 14 8.38323 ZNF768 0 genome.wustl.edu 37 16 30536163 30536163 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30536163 30536163 T C SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known missense c.1298 p.E433G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 44 0 0 37 5 11.9048 SRCAP 0 genome.wustl.edu 37 16 30734045 30734045 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30734045 30734045 A C SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.3868 p.S1290R 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 148 1 0.671141 146 30 17.0455 SRCAP 0 genome.wustl.edu 37 16 30750183 30750183 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30750183 30750183 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.8822 p.R2941Q 0.998 smart_AT_hook_DNA-bd_motif,prints_AT_hook-like pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 63 0 0 54 18 25 SRCAP 0 genome.wustl.edu 37 16 30750685 30750685 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30750685 30750685 A G SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.9324 p.P3108 0.009 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 62 0 0 54 3 5.26316 SETD1A 0 genome.wustl.edu 37 16 30990644 30990644 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30990644 30990644 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.3537 p.P1179 0.977 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 53 0 0 33 10 23.2558 ZNF668 0 genome.wustl.edu 37 16 31072650 31072650 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31072650 31072650 C T SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.1668 p.R556 0.827 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 63 0 0 74 7 8.64198 ZNF668 0 genome.wustl.edu 37 16 31072971 31072971 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31072971 31072971 C T SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.1347 p.Q449 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 82 0 0 93 9 8.82353 ZNF668 0 genome.wustl.edu 37 16 31075475 31075475 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31075475 31075475 G A SNP ZNF668 ENST00000426488 human ensembl 74_37 -1 known silent c.375 p.H125 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF668 HGNC ENSG00000167394 39 0 0 37 3 7.5 ZNF646 0 genome.wustl.edu 37 16 31092587 31092587 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31092587 31092587 A C SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.4942 p.T1648P 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 36 0 0 42 3 6.66667 PRSS53 0 genome.wustl.edu 37 16 31095491 31095491 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31095491 31095491 C T SNP PRSS53 ENST00000280606 human ensembl 74_37 -1 known missense c.1591 p.A531T 0.921 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 15 0 0 12 3 20 KAT8 0 genome.wustl.edu 37 16 31142181 31142181 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31142181 31142181 G A SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known silent c.1272 p.E424 0.999 superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 40 0 0 34 18 34.6154 PRSS8 0 genome.wustl.edu 37 16 31143846 31143846 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31143846 31143846 G A SNP PRSS8 ENST00000317508 human ensembl 74_37 -1 known silent c.609 p.C203 0.999 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS8 HGNC ENSG00000052344 68 0 0 66 7 9.58904 ITGAX 0 genome.wustl.edu 37 16 31383731 31383731 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31383731 31383731 C T SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2193 p.T731 0.009 pfam_Integrin_alpha-2,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 72 0 0 72 8 10 ITGAX 0 genome.wustl.edu 37 16 31384582 31384582 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31384582 31384582 G A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2379 p.L793 0.969 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 71 0 0 74 5 6.32911 ITGAD 0 genome.wustl.edu 37 16 31424522 31424522 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31424522 31424522 G A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.1951 p.A651T 0.017 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 65 0 0 99 7 6.60377 TGFB1I1 0 genome.wustl.edu 37 16 31485969 31485969 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31485969 31485969 G A SNP TGFB1I1 ENST00000394863 human ensembl 74_37 +1 known missense c.605 p.G202D 1.000 pirsf_Leupaxin pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 29 0 0 27 4 12.9032 TGFB1I1 0 genome.wustl.edu 37 16 31487398 31487398 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31487398 31487398 C A SNP TGFB1I1 ENST00000394863 human ensembl 74_37 +1 known silent c.780 p.A260 0.995 pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM - no_errors TGFB1I1 HGNC ENSG00000140682 62 0 0 68 5 6.84932 ZNF205 0 genome.wustl.edu 37 16 3170039 3170039 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3170039 3170039 C T SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known missense c.1378 p.R460C 1.000 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 ZNF205 HGNC ENSG00000122386 61 0 0 67 7 9.45946 ZNF267 0 genome.wustl.edu 37 16 31926568 31926568 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31926568 31926568 A G SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.998 p.H333R 0.001 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 ZNF267 HGNC ENSG00000185947 155 0 0 110 7 5.98291 ZNF267 0 genome.wustl.edu 37 16 31927166 31927166 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31927166 31927166 C T SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known silent c.1596 p.F532 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF267 HGNC ENSG00000185947 62 0 0 32 5 13.5135 ZNF267 0 genome.wustl.edu 37 16 31927343 31927343 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31927343 31927343 T C SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known silent c.1773 p.L591 0.003 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 ZNF267 HGNC ENSG00000185947 64 0 0 47 8 14.5455 ZNF267 0 genome.wustl.edu 37 16 31927722 31927722 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 31927722 31927722 T G SNP ZNF267 ENST00000300870 human ensembl 74_37 +1 known missense c.2152 p.C718G 0.952 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 ZNF267 HGNC ENSG00000185947 57 0 0 56 4 6.66667 OR1F1 0 genome.wustl.edu 37 16 3254364 3254364 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3254364 3254364 C A SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known missense c.118 p.L40M 0.183 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 75 0 0 84 8 8.69565 MEFV 0 genome.wustl.edu 37 16 3293638 3293638 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3293638 3293638 G T SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.1849 p.L617M 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 366 2 0.543478 270 27 9.09091 PDIA2 0 genome.wustl.edu 37 16 334558 334558 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 334558 334558 G T SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known missense c.371 p.R124L 0.015 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 21 0 0 27 7 20.5882 PDIA2 0 genome.wustl.edu 37 16 336467 336467 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 336467 336467 A G SNP PDIA2 ENST00000219406 human ensembl 74_37 +1 known missense c.1234 p.K412E 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase - no_errors PDIA2 HGNC ENSG00000185615 87 0 0 59 8 11.9403 SLX4 0 genome.wustl.edu 37 16 3632367 3632367 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3632367 3632367 G A SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known silent c.5481 p.G1827 0.990 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 76 0 0 85 6 6.59341 SLX4 0 genome.wustl.edu 37 16 3656564 3656564 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3656564 3656564 A G SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.671 p.L224S 0.582 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 233 0 0 206 22 9.64912 SLX4 0 genome.wustl.edu 37 16 3658827 3658827 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3658827 3658827 A G SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.139 p.S47P 0.996 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 121 0 0 89 9 9.18367 CREBBP 0 genome.wustl.edu 37 16 3778617 3778617 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3778617 3778617 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.6431 p.A2144V 0.033 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 84 0 0 94 11 10.4762 CREBBP 0 genome.wustl.edu 37 16 3779699 3779699 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3779699 3779699 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.5349 p.C1783 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 52 0 0 44 3 6.38298 CREBBP 0 genome.wustl.edu 37 16 3843433 3843433 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3843433 3843433 G A SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.1170 p.N390 0.971 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 157 0 0 143 11 7.14286 ADCY9 0 genome.wustl.edu 37 16 4164493 4164493 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4164493 4164493 A G SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.951 p.I317 0.992 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 115 0 0 112 13 10.4 ADCY9 0 genome.wustl.edu 37 16 4164997 4164997 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4164997 4164997 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.447 p.A149 0.009 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 35 0 0 47 5 9.61538 SRL 0 genome.wustl.edu 37 16 4242609 4242609 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4242609 4242609 C T SNP SRL ENST00000399609 human ensembl 74_37 -1 known missense c.967 p.E323K 1.000 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors SRL HGNC ENSG00000185739 171 0 0 146 16 9.87654 TMEM8A 0 genome.wustl.edu 37 16 425133 425133 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 425133 425133 T A SNP TMEM8A ENST00000431232 human ensembl 74_37 -1 known missense c.1439 p.E480V 0.039 NULL pfam_DUF3522,pfscan_EG-like_dom - no_errors TMEM8A HGNC ENSG00000129925 83 0 0 76 22 22.449 TFAP4 0 genome.wustl.edu 37 16 4308190 4308190 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4308190 4308190 C A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.883 p.A295S 0.997 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 46 0 0 42 14 25 TFAP4 0 genome.wustl.edu 37 16 4308199 4308199 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4308199 4308199 G C SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.874 p.Q292E 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 43 0 0 43 7 14 CORO7-PAM16 0 genome.wustl.edu 37 16 4409546 4409546 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4409546 4409546 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.2185 p.V729M 0.998 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 31 0 0 35 8 18.6047 CORO7-PAM16 0 genome.wustl.edu 37 16 4438557 4438557 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4438557 4438557 C T SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.691 p.G231R 1.000 smart_WD40_repeat pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 26 0 0 30 7 18.9189 ORC6 0 genome.wustl.edu 37 16 46731415 46731415 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 46731415 46731415 A C SNP ORC6 ENST00000219097 human ensembl 74_37 +1 known missense c.677 p.E226A 0.971 NULL pfam_ORC6 - no_errors ORC6 HGNC ENSG00000091651 55 0 0 33 3 8.33333 DNAJA2 0 genome.wustl.edu 37 16 46998641 46998641 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 46998641 46998641 A T SNP DNAJA2 ENST00000317089 human ensembl 74_37 -1 known missense c.656 p.V219D 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA2 HGNC ENSG00000069345 159 0 0 135 18 11.7647 PHKB 0 genome.wustl.edu 37 16 47497890 47497890 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 47497890 47497890 C T SNP PHKB ENST00000455779 human ensembl 74_37 +1 known missense c.41 p.A14V 0.941 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKB HGNC ENSG00000102893 93 0 0 85 6 6.59341 ANKS3 0 genome.wustl.edu 37 16 4780145 4780145 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4780145 4780145 G A SNP ANKS3 ENST00000304283 human ensembl 74_37 -1 known silent c.6 p.S2 0.009 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS3 HGNC ENSG00000168096 36 0 0 35 4 10.2564 LONP2 0 genome.wustl.edu 37 16 48381563 48381563 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 48381563 48381563 A T SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.2084 p.E695V 1.000 pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP2 HGNC ENSG00000102910 65 0 0 40 5 11.1111 ROGDI 0 genome.wustl.edu 37 16 4847966 4847966 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4847966 4847966 G A SNP ROGDI ENST00000322048 human ensembl 74_37 -1 known missense c.668 p.A223V 0.925 pfam_RAVE2/Rogdi pfam_RAVE2/Rogdi - no_errors ROGDI HGNC ENSG00000067836 33 0 0 24 5 17.2414 ROGDI 0 genome.wustl.edu 37 16 4851560 4851560 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4851560 4851560 C A SNP ROGDI ENST00000322048 human ensembl 74_37 -1 known silent c.144 p.P48 0.000 pfam_RAVE2/Rogdi pfam_RAVE2/Rogdi - no_errors ROGDI HGNC ENSG00000067836 18 0 0 8 3 27.2727 UBN1 0 genome.wustl.edu 37 16 4908571 4908571 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4908571 4908571 T C SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known silent c.339 p.G113 0.999 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 59 0 0 38 7 15.5556 UBN1 0 genome.wustl.edu 37 16 4920857 4920857 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4920857 4920857 G A SNP UBN1 ENST00000262376 human ensembl 74_37 +1 known silent c.1443 p.E481 1.000 NULL NULL - no_errors UBN1 HGNC ENSG00000118900 36 0 0 34 3 8.10811 CBLN1 0 genome.wustl.edu 37 16 49313459 49313459 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 49313459 49313459 C A SNP CBLN1 ENST00000219197 human ensembl 74_37 -1 known missense c.438 p.Q146H 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN1 HGNC ENSG00000102924 60 0 0 54 6 10 C16orf78 0 genome.wustl.edu 37 16 49407988 49407988 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 49407988 49407988 A G SNP C16orf78 ENST00000299191 human ensembl 74_37 +1 known silent c.138 p.K46 0.039 NULL NULL - no_errors C16orf78 HGNC ENSG00000166152 79 0 0 67 5 6.94444 PPL 0 genome.wustl.edu 37 16 4942192 4942192 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 4942192 4942192 C T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.1673 p.R558Q 0.299 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 40 0 0 47 6 11.3208 ZNF423 0 genome.wustl.edu 37 16 49671085 49671085 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 49671085 49671085 G A SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1978 p.R660W 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 53 0 0 42 13 23.6364 ADCY7 0 genome.wustl.edu 37 16 50326626 50326626 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 50326626 50326626 A G SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.577 p.T193A 0.990 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 60 0 0 59 9 13.2353 SEC14L5 0 genome.wustl.edu 37 16 5056027 5056027 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 5056027 5056027 A T SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known missense c.1415 p.D472V 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 34 0 0 37 4 9.7561 NKD1 0 genome.wustl.edu 37 16 50583381 50583381 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 50583381 50583381 A T SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known missense c.107 p.E36V 1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 29 0 0 29 5 14.7059 NKD1 0 genome.wustl.edu 37 16 50667258 50667258 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 50667258 50667258 A G SNP NKD1 ENST00000268459 human ensembl 74_37 +1 known missense c.979 p.K327E 1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 110 0 0 96 23 19.3277 RBL2 0 genome.wustl.edu 37 16 53504299 53504299 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 53504299 53504299 T C SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known silent c.2250 p.I750 1.000 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 49 0 0 48 6 11.1111 RPGRIP1L 0 genome.wustl.edu 37 16 53675335 53675335 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 53675335 53675335 A G SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known silent c.2736 p.V912 0.989 superfamily_C2_dom pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 120 0 0 58 8 12.1212 FTO 0 genome.wustl.edu 37 16 54145700 54145700 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 54145700 54145700 T A SNP FTO ENST00000471389 human ensembl 74_37 +1 known nonsense c.1391 p.L464* 0.296 NULL NULL - no_errors FTO HGNC ENSG00000140718 251 0 0 218 19 8.01688 IRX6 0 genome.wustl.edu 37 16 55362679 55362679 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55362679 55362679 G T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.789 p.E263D 0.993 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 74 0 0 79 8 9.1954 MMP2 0 genome.wustl.edu 37 16 55518028 55518028 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55518028 55518028 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known nonsense c.481 p.R161* 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 89 0 0 68 20 22.7273 MMP2 0 genome.wustl.edu 37 16 55525713 55525713 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55525713 55525713 G A SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.1181 p.G394E 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 57 0 0 54 6 10 MMP2 0 genome.wustl.edu 37 16 55532275 55532275 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55532275 55532275 C T SNP MMP2 ENST00000219070 human ensembl 74_37 +1 known missense c.1684 p.P562S 1.000 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP2 HGNC ENSG00000087245 76 0 0 60 15 20 LPCAT2 0 genome.wustl.edu 37 16 55583280 55583280 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55583280 55583280 C A SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1027 p.L343M 0.823 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 150 1 0.662252 109 7 6.03448 SLC6A2 0 genome.wustl.edu 37 16 55719159 55719159 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55719159 55719159 T G SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.749 p.F250C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 124 0 0 85 9 9.57447 CES5A 0 genome.wustl.edu 37 16 55899902 55899902 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55899902 55899902 G A SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.765 p.S255 0.059 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 51 0 0 45 6 11.7647 CES5A 0 genome.wustl.edu 37 16 55903587 55903587 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 55903587 55903587 C T SNP CES5A ENST00000521992 human ensembl 74_37 -1 known missense c.574 p.A192T 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 28 0 0 22 5 18.5185 OGFOD1 0 genome.wustl.edu 37 16 56501107 56501107 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 56501107 56501107 C T SNP OGFOD1 ENST00000566157 human ensembl 74_37 +1 known missense c.688 p.R230C 1.000 smart_Pro_4_hyd_alph pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph - no_errors OGFOD1 HGNC ENSG00000087263 197 0 0 136 38 21.8391 NUP93 0 genome.wustl.edu 37 16 56782236 56782236 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 56782236 56782236 T C SNP NUP93 ENST00000308159 human ensembl 74_37 +1 known missense c.77 p.L26P 1.000 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 60 0 0 71 6 7.79221 NUP93 0 genome.wustl.edu 37 16 56878563 56878563 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 56878563 56878563 A G SNP NUP93 ENST00000569842 human ensembl 74_37 +1 putative missense c.2620 p.T874A 0.005 NULL pfam_Nucleoporin_int_Nup93/Nic96 - no_errors NUP93 HGNC ENSG00000102900 26 0 0 26 3 10.3448 HERPUD1 0 genome.wustl.edu 37 16 56974002 56974002 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 56974002 56974002 T C SNP HERPUD1 ENST00000570273 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.156 - - - no_errors HERPUD1 HGNC ENSG00000051108 107 0 0 89 9 9.18367 CETP 0 genome.wustl.edu 37 16 56995923 56995923 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 56995923 56995923 T C SNP CETP ENST00000200676 human ensembl 74_37 +1 known missense c.32 p.L11P 1.000 pirsf_Cholesteryl_ester_transfer pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C,pirsf_Cholesteryl_ester_transfer - no_errors CETP HGNC ENSG00000087237 35 0 0 48 7 12.7273 GPR114 0 genome.wustl.edu 37 16 57601918 57601918 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 57601918 57601918 G A SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known silent c.972 p.A324 0.432 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 70 0 0 47 13 21.6667 TEPP 0 genome.wustl.edu 37 16 58011825 58011825 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 58011825 58011825 G A SNP TEPP ENST00000290871 human ensembl 74_37 +1 known silent c.270 p.A90 0.378 NULL NULL - no_errors TEPP HGNC ENSG00000159648 49 0 0 42 21 33.3333 ZNF319 0 genome.wustl.edu 37 16 58031417 58031417 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 58031417 58031417 C T SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known silent c.753 p.T251 0.994 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 74 0 0 77 14 15.3846 GINS3 0 genome.wustl.edu 37 16 58438412 58438412 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 58438412 58438412 G A SNP GINS3 ENST00000426538 human ensembl 74_37 +1 known missense c.547 p.G183R 1.000 pfam_GINS_complex pfam_GINS_complex - no_errors GINS3 HGNC ENSG00000181938 74 0 0 56 4 6.66667 SETD6 0 genome.wustl.edu 37 16 58550154 58550154 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 58550154 58550154 C T SNP SETD6 ENST00000219315 human ensembl 74_37 +1 known missense c.383 p.A128V 1.000 pfam_SET_dom,pirsf_RuBisCo-cyt_methylase pfam_SET_dom,pfam_Rubisco_LSMT_subst-bd,superfamily_Rubisco_LSMT_subst-bd,pirsf_RuBisCo-cyt_methylase - no_errors SETD6 HGNC ENSG00000103037 49 0 0 40 4 9.09091 CNOT1 0 genome.wustl.edu 37 16 58577483 58577483 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 58577483 58577483 A G SNP CNOT1 ENST00000441024 human ensembl 74_37 -1 known missense c.4462 p.Y1488H 0.005 NULL superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 62 0 0 54 3 5.26316 CNOT1 0 genome.wustl.edu 37 16 58589714 58589714 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 58589714 58589714 G A SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.2578 p.P860S 1.000 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 84 0 0 60 4 6.25 SLC38A7 0 genome.wustl.edu 37 16 58712265 58712265 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 58712265 58712265 T C SNP SLC38A7 ENST00000219320 human ensembl 74_37 -1 known missense c.583 p.R195G 1.000 pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A7 HGNC ENSG00000103042 64 0 0 66 9 12 CAPN15 0 genome.wustl.edu 37 16 597774 597774 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 597774 597774 C T SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known silent c.936 p.A312 0.268 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 23 0 0 15 5 25 C16orf11 0 genome.wustl.edu 37 16 614329 614329 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 614329 614329 G A SNP C16orf11 ENST00000409413 human ensembl 74_37 +1 known silent c.1035 p.E345 0.003 NULL NULL - no_errors C16orf11 HGNC ENSG00000161992 10 0 0 13 3 18.75 PIGQ 0 genome.wustl.edu 37 16 624233 624233 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 624233 624233 G A SNP PIGQ ENST00000026218 human ensembl 74_37 +1 known silent c.159 p.R53 1.000 NULL pfam_GlcNAc_Gpi1 - no_errors PIGQ HGNC ENSG00000007541 26 0 0 16 4 20 CDH11 0 genome.wustl.edu 37 16 64981928 64981928 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 64981928 64981928 G A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1969 p.R657C 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 123 0 0 92 5 5.15464 CDH5 0 genome.wustl.edu 37 16 66424419 66424419 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 66424419 66424419 C T SNP CDH5 ENST00000341529 human ensembl 74_37 +1 known missense c.895 p.R299W 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH5 HGNC ENSG00000179776 78 0 0 55 13 19.1176 CMTM2 0 genome.wustl.edu 37 16 66613716 66613716 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 66613716 66613716 G T SNP CMTM2 ENST00000268595 human ensembl 74_37 +1 known missense c.206 p.R69L 0.010 NULL NULL - no_errors CMTM2 HGNC ENSG00000140932 81 0 0 75 5 6.25 DYNC1LI2 0 genome.wustl.edu 37 16 66764088 66764088 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 66764088 66764088 A G SNP DYNC1LI2 ENST00000258198 human ensembl 74_37 -1 known missense c.968 p.L323S 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI2 HGNC ENSG00000135720 69 0 0 55 5 8.33333 C16orf70 0 genome.wustl.edu 37 16 67180991 67180991 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67180991 67180991 C T SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known missense c.1226 p.P409L 1.000 NULL pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 89 0 0 99 20 16.8067 NOL3 0 genome.wustl.edu 37 16 67208597 67208597 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67208597 67208597 A G SNP NOL3 ENST00000568146 human ensembl 74_37 +1 known missense c.359 p.H120R 0.001 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors NOL3 HGNC ENSG00000140939 30 0 0 27 3 10 FAM65A 0 genome.wustl.edu 37 16 67575891 67575891 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67575891 67575891 G T SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known missense c.1262 p.R421M 0.016 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 66 0 0 61 9 12.8571 RANBP10 0 genome.wustl.edu 37 16 67763897 67763897 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67763897 67763897 G A SNP RANBP10 ENST00000317506 human ensembl 74_37 -1 known silent c.942 p.T314 0.806 smart_CTLH_C,pfscan_CTLH_C pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 64 0 0 70 7 9.09091 EDC4 0 genome.wustl.edu 37 16 67911221 67911221 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67911221 67911221 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.553 p.A185T 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 56 0 0 42 7 14.2857 EDC4 0 genome.wustl.edu 37 16 67915267 67915267 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67915267 67915267 G T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.2736 p.K912N 0.996 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 120 0 0 111 7 5.9322 EDC4 0 genome.wustl.edu 37 16 67916191 67916191 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67916191 67916191 C T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.3237 p.G1079 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 17 0 0 8 3 27.2727 NRN1L 0 genome.wustl.edu 37 16 67919655 67919655 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67919655 67919655 C T SNP NRN1L ENST00000339176 human ensembl 74_37 +1 known missense c.110 p.A37V 0.000 NULL NULL - no_errors NRN1L HGNC ENSG00000188038 43 0 0 40 12 23.0769 CTRL 0 genome.wustl.edu 37 16 67964403 67964403 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67964403 67964403 C A SNP CTRL ENST00000574481 human ensembl 74_37 -1 known missense c.407 p.R136L 0.000 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTRL HGNC ENSG00000141086 166 0 0 156 12 7.14286 PSMB10 0 genome.wustl.edu 37 16 67968708 67968708 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67968708 67968708 G T SNP PSMB10 ENST00000358514 human ensembl 74_37 -1 known silent c.702 p.P234 0.031 pfam_Proteasome_bsu_C pfam_Proteasome_sua/b,pfam_Proteasome_bsu_C,prints_Pept_T1A_subB - no_errors PSMB10 HGNC ENSG00000205220 109 1 0.909091 104 11 9.56522 SLC12A4 0 genome.wustl.edu 37 16 67979673 67979673 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67979673 67979673 C T SNP SLC12A4 ENST00000422611 human ensembl 74_37 -1 known silent c.2847 p.E949 0.799 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC ENSG00000124067 44 0 0 42 5 10.6383 DPEP3 0 genome.wustl.edu 37 16 68014116 68014116 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68014116 68014116 G T SNP DPEP3 ENST00000268793 human ensembl 74_37 -1 known silent c.243 p.T81 0.001 NULL pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 34 0 0 35 5 12.5 ESRP2 0 genome.wustl.edu 37 16 68264194 68264194 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68264194 68264194 G C SNP ESRP2 ENST00000565858 human ensembl 74_37 -1 known missense c.2119 p.L707V 1.000 NULL superfamily_RNaseH-like_dom,smart_RRM_dom - no_errors ESRP2 HGNC ENSG00000103067 110 0 0 119 8 6.29921 SLC7A6OS 0 genome.wustl.edu 37 16 68338046 68338046 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68338046 68338046 G A SNP SLC7A6OS ENST00000263997 human ensembl 74_37 -1 known silent c.561 p.R187 0.279 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 180 0 0 133 17 11.3333 PRMT7 0 genome.wustl.edu 37 16 68373745 68373745 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68373745 68373745 T C SNP PRMT7 ENST00000339507 human ensembl 74_37 +1 known silent c.801 p.F267 0.985 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 120 0 0 100 8 7.40741 SMPD3 0 genome.wustl.edu 37 16 68397447 68397447 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68397447 68397447 G A SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known missense c.1661 p.T554M 0.003 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 50 0 0 62 5 7.46269 CDH3 0 genome.wustl.edu 37 16 68712677 68712677 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68712677 68712677 G A SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.559 p.A187T 0.998 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 CDH3 HGNC ENSG00000062038 44 0 0 34 4 10.5263 CDH3 0 genome.wustl.edu 37 16 68716321 68716321 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68716321 68716321 T C SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known silent c.1113 p.G371 0.983 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 CDH3 HGNC ENSG00000062038 45 0 0 46 3 6.12245 CDH1 0 genome.wustl.edu 37 16 68857436 68857436 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68857436 68857436 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.2071 p.A691T 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 124 0 0 108 11 9.2437 SNTB2 0 genome.wustl.edu 37 16 69334808 69334808 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 69334808 69334808 G A SNP SNTB2 ENST00000336278 human ensembl 74_37 +1 known missense c.1604 p.R535H 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTB2 HGNC ENSG00000168807 80 0 0 64 6 8.57143 NFAT5 0 genome.wustl.edu 37 16 69727557 69727557 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 69727557 69727557 C T SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known nonsense c.3829 p.Q1277* 0.994 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 67 0 0 48 6 11.1111 PDPR 0 genome.wustl.edu 37 16 70154527 70154527 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70154527 70154527 G T SNP PDPR ENST00000288050 human ensembl 74_37 +1 known missense c.132 p.Q44H 0.994 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 82 0 0 66 7 9.58904 WDR90 0 genome.wustl.edu 37 16 701681 701681 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 701681 701681 G T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel silent c.774 p.P258 0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 133 1 0.746269 133 28 17.3913 AARS 0 genome.wustl.edu 37 16 70286780 70286780 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70286780 70286780 G A SNP AARS ENST00000261772 human ensembl 74_37 -1 known silent c.2751 p.S917 0.831 pfam_Pesterase_DHHA1,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 94 0 0 83 9 9.78261 AARS 0 genome.wustl.edu 37 16 70294945 70294945 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70294945 70294945 A G SNP AARS ENST00000261772 human ensembl 74_37 -1 known splice_site c.1785+2 e12+2 1.000 - - - no_errors AARS HGNC ENSG00000090861 102 0 0 77 5 6.09756 AARS 0 genome.wustl.edu 37 16 70302259 70302259 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70302259 70302259 C T SNP AARS ENST00000261772 human ensembl 74_37 -1 known missense c.986 p.R329H 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 66 0 0 62 7 10.1449 AARS 0 genome.wustl.edu 37 16 70304204 70304204 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70304204 70304204 G A SNP AARS ENST00000261772 human ensembl 74_37 -1 known silent c.711 p.S237 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 87 0 0 81 6 6.89655 DDX19B 0 genome.wustl.edu 37 16 70350004 70350004 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70350004 70350004 G A SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known missense c.293 p.R98Q 0.993 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 203 0 0 173 13 6.98925 ST3GAL2 0 genome.wustl.edu 37 16 70429011 70429011 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70429011 70429011 G T SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.407 p.P136H 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 161 0 0 156 12 7.14286 FUK 0 genome.wustl.edu 37 16 70503129 70503129 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70503129 70503129 C G SNP FUK ENST00000378912 human ensembl 74_37 +1 known silent c.954 p.P318 0.725 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 117 0 0 116 7 5.69106 SF3B3 0 genome.wustl.edu 37 16 70588357 70588357 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70588357 70588357 G A SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known missense c.1411 p.D471N 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 169 0 0 107 10 8.54701 SF3B3 0 genome.wustl.edu 37 16 70590845 70590845 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70590845 70590845 T C SNP SF3B3 ENST00000302516 human ensembl 74_37 +1 known silent c.1923 p.C641 0.998 superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 87 0 0 75 4 5.06329 HYDIN 0 genome.wustl.edu 37 16 70871608 70871608 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70871608 70871608 C A SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.13227 p.K4409N 0.998 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 90 0 0 59 6 9.23077 HYDIN 0 genome.wustl.edu 37 16 71218785 71218785 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 71218785 71218785 C T SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.244 p.E82K 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 189 0 0 138 11 7.38255 TAT 0 genome.wustl.edu 37 16 71605530 71605530 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 71605530 71605530 A G SNP TAT ENST00000355962 human ensembl 74_37 -1 known silent c.738 p.A246 0.958 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase - no_errors TAT HGNC ENSG00000198650 95 0 0 90 5 5.26316 MARVELD3 0 genome.wustl.edu 37 16 71663380 71663380 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 71663380 71663380 A G SNP MARVELD3 ENST00000299952 human ensembl 74_37 +1 known missense c.578 p.Y193C 1.000 NULL NULL - no_errors MARVELD3 HGNC ENSG00000140832 122 0 0 120 9 6.97674 PHLPP2 0 genome.wustl.edu 37 16 71683225 71683225 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 71683225 71683225 C T SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known silent c.3540 p.E1180 0.927 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 80 0 0 69 6 8 IST1 0 genome.wustl.edu 37 16 71950395 71950395 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 71950395 71950395 T A SNP IST1 ENST00000535424 human ensembl 74_37 +1 known missense c.158 p.I53N 1.000 pfam_DUF292_euk pfam_DUF292_euk - no_errors IST1 HGNC ENSG00000182149 54 0 0 58 7 10.7692 HPR 0 genome.wustl.edu 37 16 72110871 72110871 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72110871 72110871 C T SNP HPR ENST00000228226 human ensembl 74_37 +1 known missense c.1049 p.A350V 0.991 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Haptoglobin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors HPR HGNC ENSG00000261701 151 0 0 97 21 17.7966 DHX38 0 genome.wustl.edu 37 16 72131586 72131586 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72131586 72131586 T C SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known silent c.522 p.D174 0.940 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 30 0 0 18 3 14.2857 PMFBP1 0 genome.wustl.edu 37 16 72153953 72153953 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72153953 72153953 T C SNP PMFBP1 ENST00000537465 human ensembl 74_37 -1 known missense c.2819 p.E940G 1.000 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 173 0 0 169 11 6.11111 ZFHX3 0 genome.wustl.edu 37 16 72821778 72821778 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72821778 72821778 A G SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.10397 p.V3466A 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 117 0 0 83 11 11.7021 ZFHX3 0 genome.wustl.edu 37 16 72828653 72828653 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72828653 72828653 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.7928 p.R2643H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 445 0 0 353 74 17.3302 ZFHX3 0 genome.wustl.edu 37 16 72830751 72830751 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72830751 72830751 C T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.5830 p.A1944T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 110 0 0 107 6 5.30973 ZFHX3 0 genome.wustl.edu 37 16 72831787 72831787 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72831787 72831787 A G SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.4794 p.C1598 1.000 smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 117 0 0 96 7 6.79612 ZFHX3 0 genome.wustl.edu 37 16 72832395 72832395 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72832395 72832395 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.4186 p.R1396C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 89 0 0 72 9 11.1111 ZFHX3 0 genome.wustl.edu 37 16 72993166 72993166 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 72993166 72993166 G T SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known nonsense c.879 p.Y293* 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 102 1 0.970874 90 7 7.21649 PSMD7 0 genome.wustl.edu 37 16 74334090 74334090 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 74334090 74334090 C T SNP PSMD7 ENST00000219313 human ensembl 74_37 +1 known missense c.152 p.S51L 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 51 0 0 37 7 15.9091 GLG1 0 genome.wustl.edu 37 16 74503938 74503938 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 74503938 74503938 A G SNP GLG1 ENST00000205061 human ensembl 74_37 -1 known missense c.2263 p.F755L 1.000 pfam_Cys-rich_GLG1_repeat pfam_Cys-rich_GLG1_repeat - no_errors GLG1 HGNC ENSG00000090863 117 0 0 95 6 5.94059 MLKL 0 genome.wustl.edu 37 16 74729205 74729205 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 74729205 74729205 G A SNP MLKL ENST00000308807 human ensembl 74_37 -1 known silent c.451 p.L151 0.003 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 106 0 0 88 6 6.38298 KARS 0 genome.wustl.edu 37 16 75675553 75675553 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 75675553 75675553 C T SNP KARS ENST00000319410 human ensembl 74_37 -1 known missense c.215 p.S72N 1.000 NULL pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Lys-tRNA-synth_II_C,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Lys-tRNA-ligase_II - no_errors KARS HGNC ENSG00000065427 94 0 0 98 8 7.54717 CNTNAP4 0 genome.wustl.edu 37 16 76350303 76350303 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 76350303 76350303 C A SNP CNTNAP4 ENST00000476707 human ensembl 74_37 +1 putative missense c.88 p.L30M 0.583 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 45 0 0 30 5 14.2857 MON1B 0 genome.wustl.edu 37 16 77227572 77227572 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 77227572 77227572 C T SNP MON1B ENST00000248248 human ensembl 74_37 +1 known missense c.373 p.R125W 0.908 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 64 0 0 61 18 22.7848 MON1B 0 genome.wustl.edu 37 16 77228320 77228320 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 77228320 77228320 G A SNP MON1B ENST00000248248 human ensembl 74_37 +1 known silent c.564 p.G188 0.579 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 77 0 0 109 6 5.21739 MON1B 0 genome.wustl.edu 37 16 77228534 77228534 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 77228534 77228534 G A SNP MON1B ENST00000248248 human ensembl 74_37 +1 known missense c.778 p.A260T 1.000 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 47 0 0 54 7 11.4754 ADAMTS18 0 genome.wustl.edu 37 16 77369677 77369677 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 77369677 77369677 T C SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.1835 p.Q612R 0.993 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 239 0 0 224 15 6.27615 ADAMTS18 0 genome.wustl.edu 37 16 77401590 77401590 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 77401590 77401590 A T SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.526 p.F176I 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 68 0 0 60 6 9.09091 WWOX 0 genome.wustl.edu 37 16 78466602 78466602 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 78466602 78466602 G A SNP WWOX ENST00000566780 human ensembl 74_37 +1 known missense c.1009 p.V337M 1.000 NULL pfam_WW_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,prints_Glc/ribitol_DH - no_errors WWOX HGNC ENSG00000186153 259 1 0.384615 219 12 5.19481 CDYL2 0 genome.wustl.edu 37 16 80718775 80718775 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 80718775 80718775 T C SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known silent c.276 p.R92 0.994 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 70 0 0 72 4 5.26316 ATMIN 0 genome.wustl.edu 37 16 81077197 81077197 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 81077197 81077197 G A SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.1094 p.S365N 0.293 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 94 0 0 60 8 11.7647 PKD1L2 0 genome.wustl.edu 37 16 81211477 81211477 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 81211477 81211477 A G SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.2372 p.F791S 0.953 pfam_PKD/REJ-like,pfscan_REJ-like pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 75 0 0 81 7 7.95455 CMIP 0 genome.wustl.edu 37 16 81733378 81733378 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 81733378 81733378 C T SNP CMIP ENST00000537098 human ensembl 74_37 +1 known missense c.1727 p.A576V 1.000 NULL NULL - no_errors CMIP HGNC ENSG00000153815 20 0 0 19 6 24 PLCG2 0 genome.wustl.edu 37 16 81891910 81891910 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 81891910 81891910 A G SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.380 p.K127R 0.928 smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 168 0 0 155 13 7.7381 MSLNL 0 genome.wustl.edu 37 16 822937 822937 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 822937 822937 C T SNP MSLNL ENST00000293892 human ensembl 74_37 -1 known missense c.2248 p.V750I 0.001 pfam_Mesothelin pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 47 0 0 49 11 18.3333 CDH13 0 genome.wustl.edu 37 16 83704437 83704437 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 83704437 83704437 A G SNP CDH13 ENST00000566620 human ensembl 74_37 +1 known missense c.1144 p.N382D 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH13 HGNC ENSG00000140945 89 0 0 65 20 23.5294 MLYCD 0 genome.wustl.edu 37 16 83948723 83948723 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 83948723 83948723 A G SNP MLYCD ENST00000262430 human ensembl 74_37 +1 known missense c.1111 p.I371V 0.000 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 143 0 0 122 7 5.42636 OSGIN1 0 genome.wustl.edu 37 16 83998695 83998695 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 83998695 83998695 G A SNP OSGIN1 ENST00000361711 human ensembl 74_37 +1 known missense c.517 p.G173R 0.970 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors OSGIN1 HGNC ENSG00000140961 89 0 0 97 22 18.4874 SLC38A8 0 genome.wustl.edu 37 16 84050247 84050247 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 84050247 84050247 G A SNP SLC38A8 ENST00000299709 human ensembl 74_37 -1 known missense c.1039 p.R347W 0.992 pfam_AA_transpt_TM pfam_AA_transpt_TM,pfam_Tryptophan/tyrosine_permease - no_errors SLC38A8 HGNC ENSG00000166558 52 0 0 43 13 23.2143 MBTPS1 0 genome.wustl.edu 37 16 84101321 84101321 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 84101321 84101321 A G SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.2179 p.Y727H 1.000 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 65 0 0 43 5 10.4167 MBTPS1 0 genome.wustl.edu 37 16 84103626 84103626 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 84103626 84103626 T C SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known silent c.1800 p.E600 0.984 NULL pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 186 0 0 157 14 8.18713 TAF1C 0 genome.wustl.edu 37 16 84214743 84214743 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 84214743 84214743 G A SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.1292 p.S431L 0.167 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 49 0 0 51 10 16.3934 WFDC1 0 genome.wustl.edu 37 16 84351925 84351925 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 84351925 84351925 G T SNP WFDC1 ENST00000219454 human ensembl 74_37 +1 known missense c.385 p.G129C 1.000 NULL pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core - no_errors WFDC1 HGNC ENSG00000103175 46 0 0 42 8 16 ATP2C2 0 genome.wustl.edu 37 16 84474490 84474490 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 84474490 84474490 G T SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known missense c.1237 p.G413W 0.971 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 78 0 0 59 10 14.4928 ZDHHC7 0 genome.wustl.edu 37 16 85024046 85024046 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 85024046 85024046 T C SNP ZDHHC7 ENST00000344861 human ensembl 74_37 -1 known missense c.179 p.Y60C 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC7 HGNC ENSG00000153786 32 0 0 29 3 9.375 FOXF1 0 genome.wustl.edu 37 16 86545019 86545019 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 86545019 86545019 G A SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.844 p.A282T 0.955 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 12 0 0 8 5 38.4615 FOXF1 0 genome.wustl.edu 37 16 86546570 86546570 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 86546570 86546570 A C SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.1019 p.D340A 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 48 0 0 41 3 6.81818 FOXC2 0 genome.wustl.edu 37 16 86601011 86601011 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 86601011 86601011 T C SNP FOXC2 ENST00000320354 human ensembl 74_37 +1 known missense c.70 p.Y24H 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXC2 HGNC ENSG00000176692 61 0 0 38 7 15.5556 FOXL1 0 genome.wustl.edu 37 16 86612547 86612547 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 86612547 86612547 A G SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known missense c.218 p.N73S 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 107 0 0 107 9 7.75862 METTL22 0 genome.wustl.edu 37 16 8735041 8735041 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 8735041 8735041 G T SNP METTL22 ENST00000381920 human ensembl 74_37 +1 known missense c.826 p.D276Y 1.000 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL22 HGNC ENSG00000067365 63 0 0 35 5 12.5 JPH3 0 genome.wustl.edu 37 16 87678420 87678420 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 87678420 87678420 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known silent c.939 p.G313 0.995 pirsf_Junctophilin,pfam_MORN,smart_MORN pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 41 0 0 36 9 20 ZC3H18 0 genome.wustl.edu 37 16 88697554 88697554 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 88697554 88697554 G A SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known silent c.2709 p.T903 0.025 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 45 0 0 38 14 26.9231 TRAPPC2L 0 genome.wustl.edu 37 16 88923569 88923569 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 88923569 88923569 G A SNP TRAPPC2L ENST00000301021 human ensembl 74_37 +1 known missense c.11 p.C4Y 1.000 superfamily_Longin-like_dom pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC2L HGNC ENSG00000167515 20 0 0 17 3 15 PMM2 0 genome.wustl.edu 37 16 8900242 8900242 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 8900242 8900242 A G SNP PMM2 ENST00000268261 human ensembl 74_37 +1 known missense c.325 p.K109E 0.979 pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB - no_errors PMM2 HGNC ENSG00000140650 89 0 0 69 11 13.75 ZNF778 0 genome.wustl.edu 37 16 89294580 89294580 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 89294580 89294580 A G SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known silent c.1800 p.T600 0.000 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 ZNF778 HGNC ENSG00000170100 139 0 0 117 9 7.14286 SPATA2L 0 genome.wustl.edu 37 16 89764596 89764596 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 89764596 89764596 C A SNP SPATA2L ENST00000289805 human ensembl 74_37 -1 known missense c.421 p.A141S 0.000 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 78 0 0 103 15 12.7119 VPS9D1 0 genome.wustl.edu 37 16 89783004 89783004 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 89783004 89783004 A G SNP VPS9D1 ENST00000389386 human ensembl 74_37 -1 known silent c.297 p.P99 0.000 NULL pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 - no_errors VPS9D1 HGNC ENSG00000075399 151 0 0 191 12 5.91133 FANCA 0 genome.wustl.edu 37 16 89836392 89836392 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 89836392 89836392 G A SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.2357 p.A786V 0.983 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 39 0 0 27 8 22.8571 FANCA 0 genome.wustl.edu 37 16 89865524 89865524 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 89865524 89865524 G A SNP FANCA ENST00000563673 human ensembl 74_37 -1 putative missense c.943 p.P315S 0.000 NULL NULL - no_errors FANCA HGNC ENSG00000187741 140 0 0 139 15 9.74026 USP7 0 genome.wustl.edu 37 16 8988948 8988948 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 8988948 8988948 C T SNP USP7 ENST00000344836 human ensembl 74_37 -1 known silent c.2979 p.A993 0.000 NULL pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67 - no_errors USP7 HGNC ENSG00000187555 262 0 0 242 22 8.33333 TCF25 0 genome.wustl.edu 37 16 89977618 89977618 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 89977618 89977618 A G SNP TCF25 ENST00000263346 human ensembl 74_37 +1 known missense c.2003 p.D668G 0.886 NULL pfam_TCF25 - no_errors TCF25 HGNC ENSG00000141002 79 0 0 62 12 16.2162 DEF8 0 genome.wustl.edu 37 16 90029779 90029779 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 90029779 90029779 C A SNP DEF8 ENST00000268676 human ensembl 74_37 +1 known silent c.1113 p.R371 1.000 NULL pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DEF8 HGNC ENSG00000140995 49 0 0 40 14 25.9259 GAS8 0 genome.wustl.edu 37 16 90099232 90099232 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 90099232 90099232 G A SNP GAS8 ENST00000268699 human ensembl 74_37 +1 known missense c.395 p.R132H 0.274 NULL NULL - no_errors GAS8 HGNC ENSG00000141013 44 0 0 37 10 21.2766 MYH13 0 genome.wustl.edu 37 17 10227392 10227392 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10227392 10227392 G T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.2881 p.L961M 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 67 0 0 69 6 8 MYH13 0 genome.wustl.edu 37 17 10261071 10261071 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10261071 10261071 T C SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.719 p.N240S 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,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 132 0 0 81 7 7.95455 MYH8 0 genome.wustl.edu 37 17 10322295 10322295 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10322295 10322295 T C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.263 p.D88G 1.000 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 144 0 0 96 14 12.7273 MYH8 0 genome.wustl.edu 37 17 10323492 10323492 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10323492 10323492 T C SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.53 p.Y18C 0.999 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 131 0 0 107 10 8.54701 MYH4 0 genome.wustl.edu 37 17 10358102 10358102 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10358102 10358102 T A SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.2461 p.N821Y 1.000 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 126 0 0 96 12 11.1111 MYH1 0 genome.wustl.edu 37 17 10398373 10398373 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10398373 10398373 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.5341 p.A1781T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 234 0 0 191 16 7.72947 MYH1 0 genome.wustl.edu 37 17 10402051 10402051 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10402051 10402051 T C SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.4073 p.K1358R 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 141 0 0 123 11 8.20896 MYH2 0 genome.wustl.edu 37 17 10448771 10448771 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10448771 10448771 G T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.397 p.P133T 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,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 155 1 0.641026 124 8 6.06061 MYH3 0 genome.wustl.edu 37 17 10535851 10535851 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10535851 10535851 G T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.4898 p.A1633D 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 192 0 0 203 11 5.14019 MYH3 0 genome.wustl.edu 37 17 10539158 10539158 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10539158 10539158 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.3869 p.R1290H 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 160 0 0 121 7 5.46875 PIRT 0 genome.wustl.edu 37 17 10728777 10728777 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 10728777 10728777 G A SNP PIRT ENST00000580256 human ensembl 74_37 -1 known silent c.186 p.G62 0.001 NULL NULL - no_errors PIRT HGNC ENSG00000233670 45 0 0 37 11 22.9167 DNAH9 0 genome.wustl.edu 37 17 11554567 11554567 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 11554567 11554567 T C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.2279 p.L760S 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 134 0 0 100 11 9.90991 DNAH9 0 genome.wustl.edu 37 17 11572398 11572398 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 11572398 11572398 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.2749 p.T917A 0.045 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 158 0 0 126 36 22.2222 HS3ST3B1 0 genome.wustl.edu 37 17 14204913 14204913 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 14204913 14204913 G A SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known silent c.78 p.P26 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 43 0 0 32 7 17.9487 ENSG00000205325 0 genome.wustl.edu 37 17 14683188 14683188 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 14683188 14683188 A G SNP ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 127 0 0 92 11 10.6796 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 76 0 0 74 46 38.3333 TRIM16 0 genome.wustl.edu 37 17 15539514 15539514 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 15539514 15539514 C T SNP TRIM16 ENST00000336708 human ensembl 74_37 -1 known missense c.685 p.A229T 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 92 0 0 72 6 7.69231 PRPF8 0 genome.wustl.edu 37 17 1576438 1576438 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 1576438 1576438 C T SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.3711 p.M1237I 1.000 pfam_Prp8_U5-snRNA-bd pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 84 0 0 60 5 7.69231 PRPF8 0 genome.wustl.edu 37 17 1579343 1579343 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 1579343 1579343 T C SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.2558 p.K853R 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 57 0 0 69 6 8 TTC19 0 genome.wustl.edu 37 17 15906111 15906111 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 15906111 15906111 C T SNP TTC19 ENST00000486880 human ensembl 74_37 +1 known missense c.791 p.A264V 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC19 HGNC ENSG00000011295 124 0 0 71 9 11.25 NCOR1 0 genome.wustl.edu 37 17 15968182 15968182 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 15968182 15968182 A G SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known splice_site c.5101+2 e33+2 1.000 - - - no_errors NCOR1 HGNC ENSG00000141027 72 0 0 71 4 5.33333 NCOR1 0 genome.wustl.edu 37 17 15971261 15971261 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 15971261 15971261 T C SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.4688 p.H1563R 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 59 0 0 52 3 5.45455 NCOR1 0 genome.wustl.edu 37 17 16022749 16022749 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16022749 16022749 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known missense c.1903 p.V635I 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 214 1 0.465116 134 11 7.58621 NCOR1 0 genome.wustl.edu 37 17 16024445 16024445 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16024445 16024445 G A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.1773 p.N591 0.376 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 114 0 0 121 9 6.92308 NCOR1 0 genome.wustl.edu 37 17 16042375 16042375 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16042375 16042375 A G SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.1299 p.D433 1.000 superfamily_Homeodomain-like pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 35 0 0 26 2 7.14286 NCOR1 0 genome.wustl.edu 37 17 16075115 16075115 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16075115 16075115 A G SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known splice_site c.435+2 e3+2 1.000 - - - no_errors NCOR1 HGNC ENSG00000141027 37 0 0 16 4 20 CENPV 0 genome.wustl.edu 37 17 16246220 16246220 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16246220 16246220 G A SNP CENPV ENST00000299736 human ensembl 74_37 -1 known missense c.730 p.R244W 1.000 NULL pfam_GFA/CENP-V,superfamily_Mss4-like - no_errors CENPV HGNC ENSG00000166582 58 0 0 54 8 12.9032 TRPV2 0 genome.wustl.edu 37 17 16335120 16335120 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16335120 16335120 G A SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.1610 p.R537H 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 58 0 0 51 21 29.1667 FAM211A 0 genome.wustl.edu 37 17 16365661 16365661 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16365661 16365661 A G SNP FAM211A ENST00000470794 human ensembl 74_37 -1 known missense c.286 p.Y96H 1.000 NULL NULL - no_errors FAM211A HGNC ENSG00000181350 32 0 0 23 3 11.5385 WDR81 0 genome.wustl.edu 37 17 1640894 1640894 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 1640894 1640894 G A SNP WDR81 ENST00000409644 human ensembl 74_37 +1 known missense c.5741 p.G1914D 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR81 HGNC ENSG00000167716 44 0 0 46 4 8 ZNF624 0 genome.wustl.edu 37 17 16527226 16527226 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16527226 16527226 A T SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.974 p.I325N 0.974 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 ZNF624 HGNC ENSG00000197566 123 0 0 103 9 8.03571 ZNF624 0 genome.wustl.edu 37 17 16527781 16527781 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16527781 16527781 T G SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.419 p.K140T 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF624 HGNC ENSG00000197566 95 0 0 73 5 6.41026 CCDC144A 0 genome.wustl.edu 37 17 16612506 16612506 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16612506 16612506 C T SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.1135 p.P379S 0.007 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 224 0 0 140 19 11.9497 KRT16P2 0 genome.wustl.edu 37 17 16735072 16735072 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16735072 16735072 C T SNP KRT16P2 ENST00000579062 human ensembl 74_37 -1 known rna NULL NULL 0.073 - - - no_errors KRT16P2 HGNC ENSG00000227300 32 0 0 32 3 8.57143 TBC1D27 0 genome.wustl.edu 37 17 16831013 16831013 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 16831013 16831013 C T SNP TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D27 HGNC ENSG00000128438 22 0 0 24 10 29.4118 SMYD4 0 genome.wustl.edu 37 17 1686415 1686415 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 1686415 1686415 A G SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.2175 p.S725 0.998 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 114 0 0 91 7 7.14286 COPS3 0 genome.wustl.edu 37 17 17179427 17179427 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 17179427 17179427 G A SNP COPS3 ENST00000268717 human ensembl 74_37 -1 known missense c.107 p.A36V 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors COPS3 HGNC ENSG00000141030 90 0 0 48 23 32.3944 RPH3AL 0 genome.wustl.edu 37 17 177323 177323 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 177323 177323 G A SNP RPH3AL ENST00000331302 human ensembl 74_37 -1 known silent c.12 p.T4 1.000 pfam_Znf_FYVE-typ pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 51 0 0 44 3 6.38298 LRRC48 0 genome.wustl.edu 37 17 17887240 17887240 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 17887240 17887240 G A SNP LRRC48 ENST00000313838 human ensembl 74_37 +1 known missense c.259 p.A87T 0.000 NULL NULL - no_errors LRRC48 HGNC ENSG00000171962 99 0 0 70 10 12.5 DRG2 0 genome.wustl.edu 37 17 17997252 17997252 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 17997252 17997252 C T SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known missense c.190 p.R64C 1.000 pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 86 0 0 62 8 11.4286 MYO15A 0 genome.wustl.edu 37 17 18023508 18023508 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18023508 18023508 A G SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.1394 p.K465R 0.394 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 31 0 0 36 3 7.69231 MYO15A 0 genome.wustl.edu 37 17 18039118 18039118 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18039118 18039118 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.4576 p.A1526T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 39 0 0 30 7 18.9189 MYO15A 0 genome.wustl.edu 37 17 18082167 18082167 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18082167 18082167 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.10576 p.E3526K 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 33 0 0 35 6 14.6341 LLGL1 0 genome.wustl.edu 37 17 18143909 18143909 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18143909 18143909 A G SNP LLGL1 ENST00000316843 human ensembl 74_37 +1 known missense c.2224 p.T742A 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant - no_errors LLGL1 HGNC ENSG00000131899 141 0 0 147 12 7.54717 TOP3A 0 genome.wustl.edu 37 17 18188810 18188810 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18188810 18188810 T C SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known missense c.1622 p.H541R 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 36 0 0 29 5 14.7059 TOP3A 0 genome.wustl.edu 37 17 18205934 18205934 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18205934 18205934 G A SNP TOP3A ENST00000321105 human ensembl 74_37 -1 known silent c.603 p.S201 0.704 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2 pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 74 0 0 53 10 15.873 SHMT1 0 genome.wustl.edu 37 17 18233876 18233876 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18233876 18233876 G A SNP SHMT1 ENST00000316694 human ensembl 74_37 -1 known silent c.1164 p.T388 1.000 pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT1 HGNC ENSG00000176974 82 0 0 74 5 6.32911 ZNF286B 0 genome.wustl.edu 37 17 18566378 18566378 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18566378 18566378 A G SNP ZNF286B ENST00000545289 human ensembl 74_37 -1 known silent c.441 p.S147 0.047 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF286B HGNC ENSG00000249459 84 0 0 48 7 12.7273 TRIM16L 0 genome.wustl.edu 37 17 18638407 18638407 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18638407 18638407 C T SNP TRIM16L ENST00000414850 human ensembl 74_37 +1 novel missense c.419 p.A140V 0.921 NULL NULL - no_errors TRIM16L HGNC ENSG00000108448 79 0 0 72 8 10 FAM83G 0 genome.wustl.edu 37 17 18874741 18874741 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18874741 18874741 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known silent c.2403 p.G801 0.000 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 106 0 0 132 15 10.2041 FAM83G 0 genome.wustl.edu 37 17 18881506 18881506 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18881506 18881506 G A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known silent c.1473 p.N491 0.000 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 45 0 0 34 6 15 EPN2 0 genome.wustl.edu 37 17 19237382 19237382 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19237382 19237382 C T SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known missense c.1741 p.P581S 0.419 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 22 0 0 14 3 17.6471 MAPK7 0 genome.wustl.edu 37 17 19284296 19284296 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19284296 19284296 G A SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known silent c.774 p.R258 0.993 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 MAPK7 HGNC ENSG00000166484 49 0 0 30 4 11.7647 RNF112 0 genome.wustl.edu 37 17 19319055 19319055 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19319055 19319055 T A SNP RNF112 ENST00000461366 human ensembl 74_37 +1 novel missense c.1463 p.V488D 0.037 NULL pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF112 HGNC ENSG00000128482 35 0 0 38 7 15.5556 SLC47A1 0 genome.wustl.edu 37 17 19470491 19470491 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19470491 19470491 G A SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.1259 p.G420D 0.983 pfam_MATE,tigrfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 195 0 0 195 17 8.01887 ULK2 0 genome.wustl.edu 37 17 19679710 19679710 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19679710 19679710 A G SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known silent c.3063 p.S1021 1.000 pfam_Ser/Thr_kinase_C,pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 17 0 0 26 5 16.129 ULK2 0 genome.wustl.edu 37 17 19705207 19705207 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19705207 19705207 T C SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.1324 p.S442G 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 199 0 0 181 12 6.21762 AKAP10 0 genome.wustl.edu 37 17 19827780 19827780 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19827780 19827780 C G SNP AKAP10 ENST00000225737 human ensembl 74_37 -1 known silent c.1692 p.A564 0.975 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors AKAP10 HGNC ENSG00000108599 45 0 0 32 5 13.5135 SPECC1 0 genome.wustl.edu 37 17 20135555 20135555 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 20135555 20135555 A T SNP SPECC1 ENST00000261503 human ensembl 74_37 +1 known missense c.2188 p.T730S 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 159 0 0 127 8 5.92593 KRT16P3 0 genome.wustl.edu 37 17 20406434 20406434 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 20406434 20406434 C T SNP KRT16P3 ENST00000580113 human ensembl 74_37 -1 known rna NULL NULL 0.889 - - - no_errors KRT16P3 HGNC ENSG00000214822 43 0 0 39 4 9.30233 CCDC144NL 0 genome.wustl.edu 37 17 20799218 20799218 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 20799218 20799218 T C SNP CCDC144NL ENST00000327925 human ensembl 74_37 -1 known missense c.116 p.D39G 0.002 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 53 0 0 64 8 11.1111 MAP2K3 0 genome.wustl.edu 37 17 21204191 21204191 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 21204191 21204191 C T SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known silent c.285 p.I95 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 MAP2K3 HGNC ENSG00000034152 63 0 0 64 4 5.88235 SGSM2 0 genome.wustl.edu 37 17 2266328 2266328 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 2266328 2266328 A G SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.572 p.H191R 1.000 pfscan_Run pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 48 0 0 55 3 5.17241 METTL16 0 genome.wustl.edu 37 17 2323876 2323876 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 2323876 2323876 T C SNP METTL16 ENST00000263092 human ensembl 74_37 -1 known silent c.1077 p.R359 0.992 pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 136 0 0 105 7 6.25 CLUH 0 genome.wustl.edu 37 17 2604780 2604780 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 2604780 2604780 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.665 p.G222E 1.000 superfamily_GSKIP_dom superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 36 0 0 31 4 11.4286 CLUH 0 genome.wustl.edu 37 17 2605316 2605316 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 2605316 2605316 G A SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.397 p.R133C 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 24 0 0 25 6 19.3548 NLK 0 genome.wustl.edu 37 17 26449711 26449711 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 26449711 26449711 A G SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.541 p.R181G 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 NLK HGNC ENSG00000087095 149 0 0 104 11 9.56522 KIAA0100 0 genome.wustl.edu 37 17 26966990 26966990 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 26966990 26966990 T C SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.944 p.D315G 1.000 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 111 0 0 100 9 8.25688 KIAA0100 0 genome.wustl.edu 37 17 26970214 26970214 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 26970214 26970214 A C SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.364 p.F122V 0.998 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 114 0 0 83 16 16.1616 NEK8 0 genome.wustl.edu 37 17 27061177 27061177 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27061177 27061177 C T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known missense c.224 p.A75V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 101 0 0 98 7 6.66667 TRAF4 0 genome.wustl.edu 37 17 27076177 27076177 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27076177 27076177 G A SNP TRAF4 ENST00000262395 human ensembl 74_37 +1 known missense c.995 p.C332Y 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 88 0 0 57 13 18.5714 TIAF1 0 genome.wustl.edu 37 17 27400906 27400906 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27400906 27400906 G A SNP TIAF1 ENST00000359450 human ensembl 74_37 -1 known silent c.312 p.D104 0.000 NULL NULL - no_errors TIAF1 HGNC ENSG00000221995 180 0 0 159 12 7.01754 MYO18A 0 genome.wustl.edu 37 17 27437573 27437573 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27437573 27437573 C T SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.2968 p.G990S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 22 0 0 28 3 9.67742 MYO18A 0 genome.wustl.edu 37 17 27442812 27442812 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27442812 27442812 C A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.2097 p.A699 0.009 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 10 0 0 5 3 37.5 TAOK1 0 genome.wustl.edu 37 17 27818822 27818822 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27818822 27818822 T C SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.770 p.F257S 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,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 186 0 0 121 8 6.20155 TAOK1 0 genome.wustl.edu 37 17 27818871 27818871 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27818871 27818871 G T SNP TAOK1 ENST00000261716 human ensembl 74_37 +1 known missense c.819 p.E273D 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,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 178 0 0 130 11 7.80142 ABHD15 0 genome.wustl.edu 37 17 27893504 27893504 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27893504 27893504 G T SNP ABHD15 ENST00000307201 human ensembl 74_37 -1 known missense c.481 p.L161M 1.000 pirsf_AB-Hydro_YheT pirsf_AB-Hydro_YheT - no_errors ABHD15 HGNC ENSG00000168792 30 0 0 24 2 7.69231 ANKRD13B 0 genome.wustl.edu 37 17 27939735 27939735 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27939735 27939735 G A SNP ANKRD13B ENST00000394859 human ensembl 74_37 +1 known missense c.1477 p.G493S 1.000 NULL pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif - no_errors ANKRD13B HGNC ENSG00000198720 29 0 0 27 3 10 CORO6 0 genome.wustl.edu 37 17 27948258 27948258 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27948258 27948258 A T SNP CORO6 ENST00000345068 human ensembl 74_37 -1 known missense c.182 p.V61D 1.000 pfam_DUF1899,superfamily_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO6 HGNC ENSG00000167549 43 0 0 58 6 9.375 SSH2 0 genome.wustl.edu 37 17 27959499 27959499 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27959499 27959499 G A SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.2632 p.R878W 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 190 1 0.52356 137 42 23.4637 SSH2 0 genome.wustl.edu 37 17 27999065 27999065 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27999065 27999065 C T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.616 p.V206M 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 128 0 0 113 7 5.83333 EFCAB5 0 genome.wustl.edu 37 17 28320295 28320295 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 28320295 28320295 G A SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known missense c.880 p.D294N 0.018 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 61 0 0 49 3 5.76923 RAP1GAP2 0 genome.wustl.edu 37 17 2867364 2867364 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 2867364 2867364 T C SNP RAP1GAP2 ENST00000254695 human ensembl 74_37 +1 known splice_site c.492+2 e7+2 1.000 - - - no_errors RAP1GAP2 HGNC ENSG00000132359 60 0 0 58 9 13.4328 CPD 0 genome.wustl.edu 37 17 28712243 28712243 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 28712243 28712243 A G SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.983 p.Y328C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 232 0 0 157 14 8.18713 CPD 0 genome.wustl.edu 37 17 28712247 28712247 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 28712247 28712247 T C SNP CPD ENST00000225719 human ensembl 74_37 +1 known silent c.987 p.D329 0.984 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 232 0 0 157 15 8.72093 CPD 0 genome.wustl.edu 37 17 28791791 28791791 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 28791791 28791791 A G SNP CPD ENST00000225719 human ensembl 74_37 +1 known missense c.4102 p.T1368A 1.000 NULL pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPD HGNC ENSG00000108582 186 0 0 149 12 7.45342 GOSR1 0 genome.wustl.edu 37 17 28808272 28808272 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 28808272 28808272 A G SNP GOSR1 ENST00000225724 human ensembl 74_37 +1 known missense c.143 p.D48G 1.000 NULL NULL - no_errors GOSR1 HGNC ENSG00000108587 133 0 0 96 6 5.88235 ATAD5 0 genome.wustl.edu 37 17 29161368 29161368 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 29161368 29161368 T C SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known missense c.269 p.V90A 0.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 115 0 0 91 6 6.18557 ADAP2 0 genome.wustl.edu 37 17 29283258 29283258 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 29283258 29283258 G T SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known splice_site c.883-1 e10-1 1.000 - - - no_errors ADAP2 HGNC ENSG00000184060 42 0 0 43 6 12.2449 LRRC37B 0 genome.wustl.edu 37 17 30348561 30348561 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 30348561 30348561 A G SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known silent c.396 p.P132 0.003 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 93 0 0 72 19 20.8791 LRRC37B 0 genome.wustl.edu 37 17 30348993 30348993 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 30348993 30348993 G A SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known silent c.828 p.Q276 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 180 0 0 148 24 13.9535 LRRC37B 0 genome.wustl.edu 37 17 30349701 30349701 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 30349701 30349701 G C SNP LRRC37B ENST00000341671 human ensembl 74_37 +1 known missense c.1536 p.Q512H 0.079 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37B HGNC ENSG00000185158 183 0 0 127 46 26.5896 C17orf75 0 genome.wustl.edu 37 17 30662406 30662406 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 30662406 30662406 A G SNP C17orf75 ENST00000225805 human ensembl 74_37 -1 known missense c.605 p.V202A 0.985 NULL NULL - no_errors C17orf75 HGNC ENSG00000108666 223 1 0.446429 162 25 13.369 ZNF207 0 genome.wustl.edu 37 17 30692444 30692444 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 30692444 30692444 A T SNP ZNF207 ENST00000394670 human ensembl 74_37 +1 known missense c.766 p.T256S 0.980 NULL smart_Znf_C2H2-like - no_errors ZNF207 HGNC ENSG00000010244 67 0 0 62 11 15.0685 MYO1D 0 genome.wustl.edu 37 17 30986316 30986316 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 30986316 30986316 G A SNP MYO1D ENST00000318217 human ensembl 74_37 -1 known missense c.2162 p.T721I 1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1D HGNC ENSG00000176658 116 0 0 93 16 14.6789 OR3A1 0 genome.wustl.edu 37 17 3195465 3195465 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3195465 3195465 G A SNP OR3A1 ENST00000323404 human ensembl 74_37 -1 known missense c.412 p.R138C 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A1 HGNC ENSG00000180090 121 0 0 96 19 16.5217 CCL8 0 genome.wustl.edu 37 17 32646550 32646550 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 32646550 32646550 G A SNP CCL8 ENST00000394620 human ensembl 74_37 +1 known silent c.30 p.L10 0.697 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL8 HGNC ENSG00000108700 84 0 0 56 8 12.5 TMEM132E 0 genome.wustl.edu 37 17 32959781 32959781 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 32959781 32959781 A G SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.1271 p.N424S 0.989 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 99 0 0 106 9 7.82609 CCT6B 0 genome.wustl.edu 37 17 33266714 33266714 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 33266714 33266714 A G SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known silent c.987 p.G329 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 30 0 0 29 3 9.375 SLFN5 0 genome.wustl.edu 37 17 33585998 33585998 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 33585998 33585998 A T SNP SLFN5 ENST00000299977 human ensembl 74_37 +1 known missense c.289 p.I97F 0.023 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN5 HGNC ENSG00000166750 162 0 0 145 8 5.22876 SLFN11 0 genome.wustl.edu 37 17 33680045 33680045 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 33680045 33680045 T C SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.2036 p.D679G 0.038 pfam_DUF2075,superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 181 0 0 154 10 6.09756 SLFN11 0 genome.wustl.edu 37 17 33680106 33680106 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 33680106 33680106 A G SNP SLFN11 ENST00000308377 human ensembl 74_37 -1 known missense c.1975 p.F659L 0.000 pfam_DUF2075,superfamily_P-loop_NTPase pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN11 HGNC ENSG00000172716 153 0 0 132 16 10.8108 SLFN13 0 genome.wustl.edu 37 17 33772396 33772396 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 33772396 33772396 C T SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.304 p.G102R 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 77 0 0 60 5 7.69231 GAS2L2 0 genome.wustl.edu 37 17 34073121 34073121 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 34073121 34073121 G A SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known silent c.1395 p.A465 0.029 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 129 0 0 118 14 10.6061 C17orf66 0 genome.wustl.edu 37 17 34183196 34183196 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 34183196 34183196 T C SNP C17orf66 ENST00000311880 human ensembl 74_37 -1 known missense c.1259 p.Q420R 0.857 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C17orf66 HGNC ENSG00000172653 102 0 0 92 7 7.07071 TRPV3 0 genome.wustl.edu 37 17 3422073 3422073 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3422073 3422073 C T SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.1882 p.A628T 0.660 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 52 0 0 21 15 41.6667 TRPV3 0 genome.wustl.edu 37 17 3433413 3433413 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3433413 3433413 G C SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.1150 p.P384A 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 47 0 0 52 3 5.45455 TRPV1 0 genome.wustl.edu 37 17 3483809 3483809 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3483809 3483809 G T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.1489 p.L497M 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 124 1 0.8 85 6 6.59341 MYO19 0 genome.wustl.edu 37 17 34862848 34862848 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 34862848 34862848 G A SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known missense c.1598 p.A533V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 28 0 0 31 3 8.82353 TRPV1 0 genome.wustl.edu 37 17 3494585 3494585 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3494585 3494585 C T SNP TRPV1 ENST00000399756 human ensembl 74_37 -1 known missense c.347 p.R116K 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV1 HGNC ENSG00000196689 52 0 0 45 4 8.16327 ACACA 0 genome.wustl.edu 37 17 35601597 35601597 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 35601597 35601597 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.2649 p.G883 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 96 0 0 80 13 13.9785 DUSP14 0 genome.wustl.edu 37 17 35872915 35872915 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 35872915 35872915 G A SNP DUSP14 ENST00000394386 human ensembl 74_37 +1 known missense c.541 p.V181I 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP14 HGNC ENSG00000161326 94 0 0 64 5 7.24638 SYNRG 0 genome.wustl.edu 37 17 35914085 35914085 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 35914085 35914085 T C SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known silent c.1740 p.S580 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 157 1 0.632911 134 10 6.94444 SYNRG 0 genome.wustl.edu 37 17 35931915 35931915 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 35931915 35931915 A G SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.1073 p.V358A 1.000 smart_EPS15_homology,pfscan_EPS15_homology smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 120 0 0 86 5 5.49451 DDX52 0 genome.wustl.edu 37 17 35986896 35986896 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 35986896 35986896 C T SNP DDX52 ENST00000349699 human ensembl 74_37 -1 known silent c.870 p.V290 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 119 0 0 72 9 11.1111 P2RX5 0 genome.wustl.edu 37 17 3599262 3599262 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3599262 3599262 A C SNP P2RX5 ENST00000435558 human ensembl 74_37 -1 known missense c.38 p.L13R 0.099 prints_P2X5_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 73 0 0 59 4 6.34921 ITGAE 0 genome.wustl.edu 37 17 3656663 3656663 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3656663 3656663 T A SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known missense c.1589 p.D530V 0.867 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 55 0 0 46 4 8 ITGAE 0 genome.wustl.edu 37 17 3660314 3660314 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3660314 3660314 G A SNP ITGAE ENST00000263087 human ensembl 74_37 -1 known silent c.1135 p.L379 1.000 smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ENSG00000083457 160 0 0 136 19 12.2581 MLLT6 0 genome.wustl.edu 37 17 36865786 36865786 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 36865786 36865786 C T SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.510 p.N170 0.957 smart_Znf_PHD,pfscan_Znf_PHD-finger superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 52 0 0 44 5 10.2041 PCGF2 0 genome.wustl.edu 37 17 36895090 36895090 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 36895090 36895090 C T SNP PCGF2 ENST00000360797 human ensembl 74_37 -1 known missense c.341 p.R114H 0.841 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 58 0 0 68 9 11.6883 PLXDC1 0 genome.wustl.edu 37 17 37243861 37243861 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 37243861 37243861 C T SNP PLXDC1 ENST00000315392 human ensembl 74_37 -1 known silent c.906 p.P302 0.965 superfamily_Plexin-like_fold pfam_Plexin_repeat,superfamily_Plexin-like_fold - no_errors PLXDC1 HGNC ENSG00000161381 25 0 0 22 7 24.1379 FBXL20 0 genome.wustl.edu 37 17 37420566 37420566 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 37420566 37420566 C T SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known silent c.1065 p.Q355 0.999 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL20 HGNC ENSG00000108306 104 0 0 86 6 6.52174 FBXL20 0 genome.wustl.edu 37 17 37455285 37455285 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 37455285 37455285 A T SNP FBXL20 ENST00000264658 human ensembl 74_37 -1 known nonsense c.287 p.L96* 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL20 HGNC ENSG00000108306 83 0 0 65 9 12.1622 MED1 0 genome.wustl.edu 37 17 37565253 37565253 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 37565253 37565253 A G SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.3221 p.V1074A 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 139 0 0 110 17 13.3858 MED1 0 genome.wustl.edu 37 17 37566692 37566692 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 37566692 37566692 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.1782 p.D594 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 104 0 0 116 15 11.4504 CAMKK1 0 genome.wustl.edu 37 17 3779601 3779601 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3779601 3779601 G A SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known silent c.1026 p.D342 0.099 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 CAMKK1 HGNC ENSG00000004660 74 0 0 72 5 6.49351 PSMD3 0 genome.wustl.edu 37 17 38142913 38142913 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 38142913 38142913 A G SNP PSMD3 ENST00000264639 human ensembl 74_37 +1 known missense c.497 p.Y166C 1.000 NULL pfam_26S_Psome_reg_C,pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors PSMD3 HGNC ENSG00000108344 157 0 0 179 23 11.3861 IGFBP4 0 genome.wustl.edu 37 17 38612755 38612755 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 38612755 38612755 A T SNP IGFBP4 ENST00000269593 human ensembl 74_37 +1 known missense c.697 p.T233S 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP-4 pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-4 - no_errors IGFBP4 HGNC ENSG00000141753 83 0 0 68 4 5.55556 TNS4 0 genome.wustl.edu 37 17 38643669 38643669 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 38643669 38643669 A T SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.907 p.S303T 0.001 NULL pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 67 0 0 43 7 14 KRT24 0 genome.wustl.edu 37 17 38859802 38859802 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 38859802 38859802 G A SNP KRT24 ENST00000264651 human ensembl 74_37 -1 known silent c.144 p.S48 0.749 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC ENSG00000167916 45 0 0 58 12 17.1429 KRT25 0 genome.wustl.edu 37 17 38907439 38907439 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 38907439 38907439 G A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.809 p.A270V 0.112 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 57 0 0 53 20 27.3973 KRT28 0 genome.wustl.edu 37 17 38953225 38953225 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 38953225 38953225 G A SNP KRT28 ENST00000306658 human ensembl 74_37 -1 known silent c.921 p.T307 0.002 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 83 0 0 66 13 16.4557 KRT20 0 genome.wustl.edu 37 17 39036904 39036904 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39036904 39036904 T C SNP KRT20 ENST00000167588 human ensembl 74_37 -1 known missense c.592 p.N198D 0.980 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT20 HGNC ENSG00000171431 118 0 0 115 14 10.8527 KRT39 0 genome.wustl.edu 37 17 39114896 39114896 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39114896 39114896 T A SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known missense c.1433 p.E478V 0.925 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 158 0 0 155 17 9.88372 KRT39 0 genome.wustl.edu 37 17 39122754 39122754 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39122754 39122754 G A SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known nonsense c.355 p.R119* 0.013 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 251 0 0 224 14 5.88235 KRT40 0 genome.wustl.edu 37 17 39137109 39137109 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39137109 39137109 G A SNP KRT40 ENST00000377755 human ensembl 74_37 -1 known silent c.903 p.C301 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT40 HGNC ENSG00000204889 189 1 0.526316 130 36 21.6867 KRT33B 0 genome.wustl.edu 37 17 39521647 39521647 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39521647 39521647 C T SNP KRT33B ENST00000251646 human ensembl 74_37 -1 known silent c.747 p.T249 0.002 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 38 0 0 51 4 7.27273 KRT34 0 genome.wustl.edu 37 17 39535677 39535677 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39535677 39535677 G A SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known silent c.930 p.C310 0.838 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 93 0 0 88 13 12.8713 KRT32 0 genome.wustl.edu 37 17 39623459 39623459 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39623459 39623459 A G SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known missense c.119 p.V40A 0.747 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 55 0 0 65 12 15.5844 KRT14 0 genome.wustl.edu 37 17 39740076 39740076 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39740076 39740076 C T SNP KRT14 ENST00000167586 human ensembl 74_37 -1 known missense c.863 p.R288H 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC ENSG00000186847 170 0 0 116 36 23.6842 ZZEF1 0 genome.wustl.edu 37 17 3989830 3989830 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3989830 3989830 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.2462 p.S821N 0.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 109 0 0 115 9 7.25806 JUP 0 genome.wustl.edu 37 17 39921283 39921283 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39921283 39921283 C T SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.946 p.V316M 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 62 0 0 60 6 9.09091 FKBP10 0 genome.wustl.edu 37 17 39974715 39974715 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39974715 39974715 G A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.663 p.M221I 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 43 0 0 34 16 32 FKBP10 0 genome.wustl.edu 37 17 39977960 39977960 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39977960 39977960 G A SNP FKBP10 ENST00000321562 human ensembl 74_37 +1 known missense c.1454 p.R485Q 0.993 pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP10 HGNC ENSG00000141756 75 0 0 72 12 14.2857 KLHL10 0 genome.wustl.edu 37 17 40001942 40001942 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40001942 40001942 G A SNP KLHL10 ENST00000293303 human ensembl 74_37 +1 known missense c.1249 p.A417T 0.998 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL10 HGNC ENSG00000161594 73 0 0 52 8 13.3333 DNAJC7 0 genome.wustl.edu 37 17 40141535 40141535 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40141535 40141535 A G SNP DNAJC7 ENST00000457167 human ensembl 74_37 -1 known missense c.640 p.Y214H 1.000 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 265 0 0 218 12 5.21739 ZZEF1 0 genome.wustl.edu 37 17 4020355 4020355 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4020355 4020355 T C SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.605 p.Y202C 1.000 superfamily_Galactose-bd-like pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 164 0 0 119 41 25.625 KCNH4 0 genome.wustl.edu 37 17 40330388 40330388 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40330388 40330388 C A SNP KCNH4 ENST00000264661 human ensembl 74_37 -1 known nonsense c.418 p.G140* 0.997 pfscan_PAS-assoc_C pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 39 0 0 34 5 12.8205 GHDC 0 genome.wustl.edu 37 17 40344600 40344600 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40344600 40344600 C A SNP GHDC ENST00000301671 human ensembl 74_37 -1 known missense c.548 p.R183M 0.000 NULL pfam_GH3 - no_errors GHDC HGNC ENSG00000167925 71 0 0 57 9 13.6364 STAT5A 0 genome.wustl.edu 37 17 40458336 40458336 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40458336 40458336 C T SNP STAT5A ENST00000345506 human ensembl 74_37 +1 known silent c.1551 p.A517 0.798 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 55 0 0 43 13 23.2143 CNTNAP1 0 genome.wustl.edu 37 17 40839038 40839038 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40839038 40839038 C T SNP CNTNAP1 ENST00000264638 human ensembl 74_37 +1 known missense c.1018 p.R340W 0.315 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 78 0 0 51 17 25 WNK4 0 genome.wustl.edu 37 17 40937321 40937321 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40937321 40937321 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.1297 p.R433C 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_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_dom - no_errors WNK4 HGNC ENSG00000126562 18 0 0 12 5 29.4118 PSME3 0 genome.wustl.edu 37 17 40990148 40990148 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40990148 40990148 A G SNP PSME3 ENST00000293362 human ensembl 74_37 +1 known missense c.331 p.S111G 1.000 pfam_Proteasome_activ_pa28_C,superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME3 HGNC ENSG00000131467 117 0 0 103 12 10.4348 AOC3 0 genome.wustl.edu 37 17 41004027 41004027 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 41004027 41004027 C T SNP AOC3 ENST00000308423 human ensembl 74_37 +1 known missense c.667 p.R223W 0.996 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC3 HGNC ENSG00000131471 41 0 0 39 4 9.30233 PTGES3L-AARSD1 0 genome.wustl.edu 37 17 41108275 41108275 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 41108275 41108275 G A SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 74_37 -1 known silent c.1131 p.G377 0.970 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 94 0 0 87 12 12.1212 VAT1 0 genome.wustl.edu 37 17 41170164 41170164 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 41170164 41170164 C T SNP VAT1 ENST00000355653 human ensembl 74_37 -1 known missense c.655 p.G219R 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1 HGNC ENSG00000108828 88 0 0 78 12 13.3333 ETV4 0 genome.wustl.edu 37 17 41610241 41610241 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 41610241 41610241 G T SNP ETV4 ENST00000319349 human ensembl 74_37 -1 known silent c.612 p.P204 0.120 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 84 0 0 74 19 20.4301 MPP3 0 genome.wustl.edu 37 17 41891392 41891392 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 41891392 41891392 G A SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known silent c.1242 p.G414 0.141 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 91 0 0 64 20 23.8095 MPP3 0 genome.wustl.edu 37 17 41903165 41903165 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 41903165 41903165 C T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.568 p.A190T 0.000 pfam_PDZ,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 38 0 0 41 3 6.81818 PPY 0 genome.wustl.edu 37 17 42018862 42018862 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42018862 42018862 C T SNP PPY ENST00000225992 human ensembl 74_37 -1 known missense c.161 p.R54H 1.000 pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like pfam_Pancreatic_hormone-like,smart_Pancreatic_hormone-like,pfscan_Pancreatic_hormone-like,prints_Pancreatic_hormone-like - no_errors PPY HGNC ENSG00000108849 136 0 0 121 11 8.33333 NAGS 0 genome.wustl.edu 37 17 42082072 42082072 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42082072 42082072 C A SNP NAGS ENST00000293404 human ensembl 74_37 +1 known missense c.41 p.A14D 0.002 pirsf_GlcNAc_Synth_met pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC ENSG00000161653 42 0 0 32 4 11.1111 HDAC5 0 genome.wustl.edu 37 17 42162039 42162039 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42162039 42162039 A T SNP HDAC5 ENST00000225983 human ensembl 74_37 -1 known missense c.2192 p.I731N 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 79 0 0 82 6 6.81818 C17orf53 0 genome.wustl.edu 37 17 42225348 42225348 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42225348 42225348 G A SNP C17orf53 ENST00000319977 human ensembl 74_37 +1 known silent c.177 p.R59 0.000 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 85 0 0 77 17 18.0851 C17orf53 0 genome.wustl.edu 37 17 42230037 42230037 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42230037 42230037 G T SNP C17orf53 ENST00000319977 human ensembl 74_37 +1 known missense c.1341 p.E447D 1.000 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 100 1 0.990099 110 6 5.17241 UBTF 0 genome.wustl.edu 37 17 42286718 42286718 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42286718 42286718 A G SNP UBTF ENST00000302904 human ensembl 74_37 -1 known splice_site c.1905+2 e16+2 1.000 - - - no_errors UBTF HGNC ENSG00000108312 39 0 0 36 5 12.1951 ITGA2B 0 genome.wustl.edu 37 17 42463260 42463260 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42463260 42463260 T G SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.340 p.T114P 0.002 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 15 0 0 18 5 21.7391 GPATCH8 0 genome.wustl.edu 37 17 42478681 42478681 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42478681 42478681 G A SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.764 p.T255I 0.987 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 128 0 0 120 12 9.09091 EFTUD2 0 genome.wustl.edu 37 17 42937909 42937909 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42937909 42937909 T C SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.1610 p.Y537C 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC ENSG00000108883 64 0 0 62 7 10.1449 C1QL1 0 genome.wustl.edu 37 17 43044935 43044935 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 43044935 43044935 G A SNP C1QL1 ENST00000253407 human ensembl 74_37 -1 known missense c.482 p.A161V 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 91 0 0 75 7 8.53659 PLCD3 0 genome.wustl.edu 37 17 43190323 43190323 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 43190323 43190323 G A SNP PLCD3 ENST00000322765 human ensembl 74_37 -1 known missense c.2186 p.A729V 0.057 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD3 HGNC ENSG00000161714 12 0 0 18 3 14.2857 SPATA32 0 genome.wustl.edu 37 17 43333338 43333338 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 43333338 43333338 C T SNP SPATA32 ENST00000331780 human ensembl 74_37 -1 known missense c.211 p.A71T 0.000 NULL NULL - no_errors SPATA32 HGNC ENSG00000184361 56 0 0 61 4 6.15385 PLEKHM1 0 genome.wustl.edu 37 17 43515154 43515154 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 43515154 43515154 T C SNP PLEKHM1 ENST00000580404 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLEKHM1 HGNC ENSG00000225190 22 0 0 26 3 10.3448 SPPL2C 0 genome.wustl.edu 37 17 43923692 43923692 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 43923692 43923692 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.1420 p.V474M 0.001 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 64 0 0 51 24 32 MAPT 0 genome.wustl.edu 37 17 44061147 44061147 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 44061147 44061147 C T SNP MAPT ENST00000344290 human ensembl 74_37 +1 known missense c.977 p.A326V 0.000 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 39 0 0 40 10 20 KANSL1 0 genome.wustl.edu 37 17 44116579 44116579 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 44116579 44116579 G A SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known silent c.2206 p.L736 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 54 0 0 56 5 8.19672 SPNS2 0 genome.wustl.edu 37 17 4436605 4436605 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4436605 4436605 C T SNP SPNS2 ENST00000329078 human ensembl 74_37 +1 known missense c.1156 p.R386C 0.727 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 40 0 0 22 9 29.0323 GGT6 0 genome.wustl.edu 37 17 4463748 4463748 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4463748 4463748 C A SNP GGT6 ENST00000574154 human ensembl 74_37 -1 known missense c.69 p.E23D 0.301 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT6 HGNC ENSG00000167741 51 0 0 60 5 7.69231 TBX21 0 genome.wustl.edu 37 17 45822579 45822579 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 45822579 45822579 G A SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known silent c.1455 p.P485 0.894 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX21 HGNC ENSG00000073861 50 0 0 37 11 22.9167 MRPL10 0 genome.wustl.edu 37 17 45904545 45904545 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 45904545 45904545 C T SNP MRPL10 ENST00000351111 human ensembl 74_37 -1 known missense c.248 p.R83H 0.441 NULL pfam_Ribosomal_L10/acidic_P0 - no_errors MRPL10 HGNC ENSG00000159111 89 0 0 67 8 10.6667 LRRC46 0 genome.wustl.edu 37 17 45909496 45909496 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 45909496 45909496 G A SNP LRRC46 ENST00000269025 human ensembl 74_37 +1 known missense c.41 p.G14D 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC46 HGNC ENSG00000141294 142 0 0 140 11 7.28477 CBX1 0 genome.wustl.edu 37 17 46153532 46153532 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46153532 46153532 T C SNP CBX1 ENST00000225603 human ensembl 74_37 -1 known missense c.149 p.N50S 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX1 HGNC ENSG00000108468 116 0 0 71 7 8.97436 CXCL16 0 genome.wustl.edu 37 17 4641712 4641712 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4641712 4641712 C T SNP CXCL16 ENST00000293778 human ensembl 74_37 -1 known missense c.349 p.D117N 0.846 NULL NULL - no_errors CXCL16 HGNC ENSG00000161921 47 0 0 31 6 16.2162 ZMYND15 0 genome.wustl.edu 37 17 4647966 4647966 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4647966 4647966 G A SNP ZMYND15 ENST00000433935 human ensembl 74_37 +1 known missense c.1730 p.R577Q 0.675 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ENSG00000141497 82 0 0 65 22 25.2874 HOXB1 0 genome.wustl.edu 37 17 46608232 46608232 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46608232 46608232 T C SNP HOXB1 ENST00000239174 human ensembl 74_37 -1 known missense c.35 p.Y12C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 97 0 0 89 9 9.18367 HOXB5 0 genome.wustl.edu 37 17 46669628 46669628 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46669628 46669628 C A SNP HOXB5 ENST00000239151 human ensembl 74_37 -1 known missense c.753 p.K251N 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC ENSG00000120075 137 0 0 124 11 8.14815 HOXB8 0 genome.wustl.edu 37 17 46691747 46691747 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46691747 46691747 T C SNP HOXB8 ENST00000239144 human ensembl 74_37 -1 known missense c.320 p.Y107C 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXB8 HGNC ENSG00000120068 33 0 0 30 5 14.2857 HOXB8 0 genome.wustl.edu 37 17 46691765 46691765 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46691765 46691765 T C SNP HOXB8 ENST00000239144 human ensembl 74_37 -1 known missense c.302 p.D101G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_HTH_motif - no_errors HOXB8 HGNC ENSG00000120068 37 0 0 41 6 12.766 HOXB13 0 genome.wustl.edu 37 17 46804235 46804235 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46804235 46804235 G A SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known missense c.772 p.R258C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 97 0 0 80 21 20.7921 TTLL6 0 genome.wustl.edu 37 17 46847394 46847394 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46847394 46847394 C T SNP TTLL6 ENST00000393382 human ensembl 74_37 -1 known silent c.2106 p.P702 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL6 HGNC ENSG00000170703 100 0 0 95 9 8.65385 GIP 0 genome.wustl.edu 37 17 47039154 47039154 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 47039154 47039154 C T SNP GIP ENST00000357424 human ensembl 74_37 -1 known silent c.285 p.E95 0.693 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP - no_errors GIP HGNC ENSG00000159224 39 0 0 34 9 20.9302 PLD2 0 genome.wustl.edu 37 17 4711687 4711687 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4711687 4711687 T C SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.359 p.L120S 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 186 0 0 153 13 7.83133 IGF2BP1 0 genome.wustl.edu 37 17 47121413 47121413 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 47121413 47121413 A G SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.1285 p.K429E 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 116 0 0 92 28 23.3333 PLD2 0 genome.wustl.edu 37 17 4714224 4714224 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4714224 4714224 C T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.988 p.R330W 0.952 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 75 0 0 66 4 5.71429 PLD2 0 genome.wustl.edu 37 17 4721823 4721823 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4721823 4721823 C T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.2044 p.P682S 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 64 0 0 75 7 8.53659 PLD2 0 genome.wustl.edu 37 17 4722429 4722429 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4722429 4722429 G T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known nonsense c.2224 p.G742* 0.986 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 65 0 0 60 8 11.7647 GNGT2 0 genome.wustl.edu 37 17 47284707 47284707 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 47284707 47284707 T C SNP GNGT2 ENST00000300406 human ensembl 74_37 -1 known silent c.78 p.R26 0.018 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT2 HGNC ENSG00000167083 319 0 0 308 28 8.33333 NGFR 0 genome.wustl.edu 37 17 47583768 47583768 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 47583768 47583768 G A SNP NGFR ENST00000172229 human ensembl 74_37 +1 known missense c.316 p.V106M 1.000 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 25 0 0 17 8 32 KAT7 0 genome.wustl.edu 37 17 47904898 47904898 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 47904898 47904898 C T SNP KAT7 ENST00000503101 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors KAT7 HGNC ENSG00000136504 27 0 0 25 2 7.40741 MINK1 0 genome.wustl.edu 37 17 4796870 4796870 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4796870 4796870 A C SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.2542 p.S848R 0.997 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 30 0 0 31 8 20.5128 DLX3 0 genome.wustl.edu 37 17 48072105 48072105 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48072105 48072105 A G SNP DLX3 ENST00000434704 human ensembl 74_37 -1 known silent c.258 p.Y86 0.998 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX3 HGNC ENSG00000064195 76 0 0 75 6 7.40741 COL1A1 0 genome.wustl.edu 37 17 48263363 48263363 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48263363 48263363 C A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.4024 p.G1342C 0.998 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 53 0 0 42 7 14.2857 COL1A1 0 genome.wustl.edu 37 17 48267694 48267694 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48267694 48267694 G A SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known silent c.2445 p.G815 0.996 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 75 0 0 67 7 9.45946 EME1 0 genome.wustl.edu 37 17 48458187 48458187 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48458187 48458187 C T SNP EME1 ENST00000393271 human ensembl 74_37 +1 known missense c.1639 p.R547C 1.000 NULL pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME1 HGNC ENSG00000154920 168 0 0 136 15 9.93377 RNF167 0 genome.wustl.edu 37 17 4848061 4848061 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4848061 4848061 G A SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.803 p.C268Y 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 113 0 0 99 9 8.33333 ACSF2 0 genome.wustl.edu 37 17 48539648 48539648 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48539648 48539648 C T SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known missense c.611 p.A204V 0.809 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 63 0 0 56 7 11.1111 CHAD 0 genome.wustl.edu 37 17 48545855 48545855 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48545855 48545855 G A SNP CHAD ENST00000258969 human ensembl 74_37 -1 known missense c.320 p.S107F 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CHAD HGNC ENSG00000136457 98 0 0 85 9 9.57447 MYCBPAP 0 genome.wustl.edu 37 17 48603399 48603399 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48603399 48603399 G A SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.2069 p.R690H 0.000 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 57 0 0 61 10 14.0845 SPATA20 0 genome.wustl.edu 37 17 48626681 48626681 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48626681 48626681 G T SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.695 p.S232I 1.000 pfam_DUF255 pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 54 0 0 69 4 5.47945 CACNA1G 0 genome.wustl.edu 37 17 48678434 48678434 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48678434 48678434 A G SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.3814 p.I1272V 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 117 0 0 106 9 7.82609 CACNA1G 0 genome.wustl.edu 37 17 48678461 48678461 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48678461 48678461 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.3841 p.V1281M 0.998 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 101 0 0 91 12 11.6505 CACNA1G 0 genome.wustl.edu 37 17 48680184 48680184 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48680184 48680184 C T SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known missense c.3919 p.R1307C 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 29 0 0 34 6 15 KIF1C 0 genome.wustl.edu 37 17 4905895 4905895 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4905895 4905895 A G SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.566 p.Y189C 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 105 0 0 135 16 10.596 SLC52A1 0 genome.wustl.edu 37 17 4937093 4937093 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4937093 4937093 G A SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known missense c.691 p.P231S 0.001 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 63 0 0 68 8 10.5263 USP6 0 genome.wustl.edu 37 17 5041418 5041418 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 5041418 5041418 C T SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.928 p.R310C 0.999 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 62 0 0 73 16 17.9775 RABEP1 0 genome.wustl.edu 37 17 5276735 5276735 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 5276735 5276735 C A SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known missense c.2011 p.P671T 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 59 0 0 46 5 9.80392 STXBP4 0 genome.wustl.edu 37 17 53108540 53108540 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 53108540 53108540 T A SNP STXBP4 ENST00000376352 human ensembl 74_37 +1 known nonsense c.678 p.Y226* 1.000 NULL pfam_WW_dom,pfam_PDZ,superfamily_PDZ,superfamily_WW_dom,smart_PDZ,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom - no_errors STXBP4 HGNC ENSG00000166263 36 0 0 35 3 7.89474 C1QBP 0 genome.wustl.edu 37 17 5338255 5338255 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 5338255 5338255 T C SNP C1QBP ENST00000225698 human ensembl 74_37 -1 known missense c.415 p.I139V 1.000 pfam_MAM33,superfamily_MAM33 pfam_MAM33,superfamily_MAM33 - no_errors C1QBP HGNC ENSG00000108561 124 0 0 103 9 8.03571 HLF 0 genome.wustl.edu 37 17 53392616 53392616 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 53392616 53392616 A G SNP HLF ENST00000570962 human ensembl 74_37 +1 known missense c.220 p.T74A 0.987 NULL NULL - no_errors HLF HGNC ENSG00000108924 125 0 0 127 14 9.92908 MMD 0 genome.wustl.edu 37 17 53478860 53478860 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 53478860 53478860 T A SNP MMD ENST00000262065 human ensembl 74_37 -1 known silent c.486 p.G162 0.989 pfam_HlyIII-related,tigrfam_HylIII pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 94 0 0 53 12 18.4615 VPS53 0 genome.wustl.edu 37 17 534801 534801 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 534801 534801 G A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known nonsense c.676 p.Q226* 1.000 pfam_Vps53_N pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 77 0 0 57 4 6.55738 NLRP1 0 genome.wustl.edu 37 17 5436169 5436169 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 5436169 5436169 A G SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.3269 p.V1090A 0.001 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 36 0 0 43 3 6.52174 ANKFN1 0 genome.wustl.edu 37 17 54450156 54450156 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 54450156 54450156 A G SNP ANKFN1 ENST00000318698 human ensembl 74_37 +1 known missense c.760 p.R254G 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 148 0 0 121 11 8.33333 AKAP1 0 genome.wustl.edu 37 17 55182953 55182953 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 55182953 55182953 C T SNP AKAP1 ENST00000337714 human ensembl 74_37 +1 known missense c.128 p.A43V 0.824 NULL pfam_Tudor,pfam_KH_dom_type_1,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors AKAP1 HGNC ENSG00000121057 33 0 0 38 2 5 EPX 0 genome.wustl.edu 37 17 56276948 56276948 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56276948 56276948 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.1330 p.A444T 0.652 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 78 0 0 66 6 8.33333 MKS1 0 genome.wustl.edu 37 17 56284448 56284448 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56284448 56284448 T C SNP MKS1 ENST00000393119 human ensembl 74_37 -1 known missense c.1405 p.K469E 1.000 pfam_B9_dom pfam_B9_dom - no_errors MKS1 HGNC ENSG00000011143 121 0 0 69 5 6.75676 RNF43 0 genome.wustl.edu 37 17 56438188 56438188 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56438188 56438188 C T SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.805 p.A269T 0.975 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 49 0 0 38 2 5 RNF43 0 genome.wustl.edu 37 17 56439908 56439908 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56439908 56439908 C T SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known silent c.684 p.R228 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 110 0 0 129 8 5.83942 HSF5 0 genome.wustl.edu 37 17 56540625 56540625 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56540625 56540625 G A SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.1060 p.P354S 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 151 0 0 111 14 11.2 HSF5 0 genome.wustl.edu 37 17 56565215 56565215 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56565215 56565215 C T SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.421 p.G141S 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 28 0 0 28 6 17.6471 HSF5 0 genome.wustl.edu 37 17 56565535 56565535 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56565535 56565535 C T SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known missense c.101 p.G34D 1.000 smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 38 0 0 24 3 11.1111 MTMR4 0 genome.wustl.edu 37 17 56582887 56582887 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56582887 56582887 C T SNP MTMR4 ENST00000323456 human ensembl 74_37 -1 known missense c.1049 p.R350Q 1.000 NULL pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR4 HGNC ENSG00000108389 98 0 0 86 14 14 SEPT4 0 genome.wustl.edu 37 17 56598409 56598409 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56598409 56598409 T C SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known silent c.1272 p.A424 1.000 pfam_Cell_div_GTP-bd pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 143 0 0 119 29 19.5946 SEPT4 0 genome.wustl.edu 37 17 56604289 56604289 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56604289 56604289 G A SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known silent c.156 p.F52 0.997 NULL pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 141 0 0 120 35 22.5806 TEX14 0 genome.wustl.edu 37 17 56692669 56692669 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56692669 56692669 G T SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known missense c.823 p.L275M 0.997 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_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors TEX14 HGNC ENSG00000121101 105 0 0 86 5 5.49451 TRIM37 0 genome.wustl.edu 37 17 57125059 57125059 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 57125059 57125059 A G SNP TRIM37 ENST00000262294 human ensembl 74_37 -1 known missense c.1652 p.I551T 1.000 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 55 0 0 19 5 20.8333 SKA2 0 genome.wustl.edu 37 17 57196750 57196750 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 57196750 57196750 C G SNP SKA2 ENST00000330137 human ensembl 74_37 -1 known missense c.227 p.S76T 0.027 NULL NULL - no_errors SKA2 HGNC ENSG00000182628 160 0 0 109 14 11.3821 DHX40 0 genome.wustl.edu 37 17 57684404 57684404 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 57684404 57684404 G A SNP DHX40 ENST00000251241 human ensembl 74_37 +1 known silent c.2211 p.S737 0.975 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX40 HGNC ENSG00000108406 77 0 0 55 3 5.17241 CLTC 0 genome.wustl.edu 37 17 57762469 57762469 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 57762469 57762469 C A SNP CLTC ENST00000269122 human ensembl 74_37 +1 known missense c.4487 p.A1496D 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 190 0 0 137 8 5.51724 TUBD1 0 genome.wustl.edu 37 17 57955509 57955509 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 57955509 57955509 T A SNP TUBD1 ENST00000325752 human ensembl 74_37 -1 known missense c.724 p.T242S 0.930 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,prints_Delta_tubulin,prints_Tubulin,prints_Epsilon_tubulin - no_errors TUBD1 HGNC ENSG00000108423 84 0 0 57 4 6.55738 TBC1D3P1-DHX40P1 0 genome.wustl.edu 37 17 58064884 58064884 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 58064884 58064884 A G SNP TBC1D3P1-DHX40P1 ENST00000587125 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TBC1D3P1-DHX40P1 HGNC ENSG00000267104 137 0 0 95 10 9.52381 CA4 0 genome.wustl.edu 37 17 58233921 58233921 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 58233921 58233921 T C SNP CA4 ENST00000300900 human ensembl 74_37 +1 known missense c.113 p.V38A 0.991 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 72 0 0 65 10 13.3333 PPM1D 0 genome.wustl.edu 37 17 58740868 58740868 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 58740868 58740868 A G SNP PPM1D ENST00000305921 human ensembl 74_37 +1 known silent c.1773 p.G591 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1D HGNC ENSG00000170836 76 0 0 51 3 5.55556 BCAS3 0 genome.wustl.edu 37 17 58952026 58952026 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 58952026 58952026 C T SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known silent c.588 p.I196 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 103 0 0 45 14 23.7288 BCAS3 0 genome.wustl.edu 37 17 58967097 58967097 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 58967097 58967097 C A SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.703 p.L235I 1.000 NULL pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 192 0 0 126 9 6.66667 TBX2 0 genome.wustl.edu 37 17 59480452 59480452 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 59480452 59480452 C T SNP TBX2 ENST00000240328 human ensembl 74_37 +1 novel missense c.694 p.P232S 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC ENSG00000121068 88 0 0 77 20 20.6186 TBX4 0 genome.wustl.edu 37 17 59560379 59560379 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 59560379 59560379 C T SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known silent c.1143 p.P381 0.997 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX4 HGNC ENSG00000121075 36 0 0 36 6 14.2857 WSCD1 0 genome.wustl.edu 37 17 5984004 5984004 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 5984004 5984004 A G SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.26 p.Q9R 1.000 NULL pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 57 0 0 47 3 6 WSCD1 0 genome.wustl.edu 37 17 6021338 6021338 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 6021338 6021338 G A SNP WSCD1 ENST00000317744 human ensembl 74_37 +1 known missense c.1205 p.S402N 1.000 superfamily_P-loop_NTPase pfam_WSC_carb-bd,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD1 HGNC ENSG00000179314 101 0 0 97 8 7.61905 TLK2 0 genome.wustl.edu 37 17 60678155 60678155 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 60678155 60678155 C T SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.1760 p.P587L 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 TLK2 HGNC ENSG00000146872 71 0 0 56 5 8.19672 MRC2 0 genome.wustl.edu 37 17 60757577 60757577 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 60757577 60757577 T A SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known missense c.2345 p.I782N 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 28 0 0 35 4 10.2564 MARCH10 0 genome.wustl.edu 37 17 60802447 60802447 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 60802447 60802447 G A SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known silent c.1956 p.S652 0.002 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 59 0 0 64 9 12.3288 TANC2 0 genome.wustl.edu 37 17 61473221 61473221 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 61473221 61473221 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.2947 p.G983R 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 24 0 0 18 3 14.2857 ACE 0 genome.wustl.edu 37 17 61561282 61561282 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 61561282 61561282 A G SNP ACE ENST00000290866 human ensembl 74_37 +1 known silent c.1659 p.P553 0.010 pfam_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 33 0 0 44 7 13.7255 KCNH6 0 genome.wustl.edu 37 17 61611428 61611428 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 61611428 61611428 A G SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known missense c.857 p.D286G 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 153 0 0 145 10 6.45161 DCAF7 0 genome.wustl.edu 37 17 61628105 61628105 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 61628105 61628105 A T SNP DCAF7 ENST00000310827 human ensembl 74_37 +1 known missense c.67 p.N23Y 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF7 HGNC ENSG00000136485 50 0 0 70 6 7.89474 FTSJ3 0 genome.wustl.edu 37 17 61902762 61902762 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 61902762 61902762 A G SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known silent c.435 p.C145 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 64 0 0 68 5 6.84932 SMARCD2 0 genome.wustl.edu 37 17 61914568 61914568 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 61914568 61914568 A G SNP SMARCD2 ENST00000448276 human ensembl 74_37 -1 known missense c.431 p.V144A 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD2 HGNC ENSG00000108604 50 0 0 45 6 11.7647 ERN1 0 genome.wustl.edu 37 17 62135346 62135346 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 62135346 62135346 T C SNP ERN1 ENST00000433197 human ensembl 74_37 -1 known missense c.1214 p.N405S 0.998 NULL pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 18 0 0 8 4 33.3333 TEX2 0 genome.wustl.edu 37 17 62290313 62290313 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 62290313 62290313 T C SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.1265 p.Y422C 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 143 0 0 157 9 5.42169 POLG2 0 genome.wustl.edu 37 17 62492909 62492909 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 62492909 62492909 G A SNP POLG2 ENST00000539111 human ensembl 74_37 -1 known missense c.178 p.P60S 0.763 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 99 0 0 115 27 19.0141 DDX5 0 genome.wustl.edu 37 17 62496396 62496396 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 62496396 62496396 T C SNP DDX5 ENST00000225792 human ensembl 74_37 -1 known missense c.1490 p.Y497C 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX5 HGNC ENSG00000108654 154 0 0 103 25 19.5312 CEP95 0 genome.wustl.edu 37 17 62523239 62523239 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 62523239 62523239 G T SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.1163 p.S388I 0.724 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 103 0 0 68 4 5.55556 LRRC37A3 0 genome.wustl.edu 37 17 62856650 62856650 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 62856650 62856650 C T SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known missense c.3614 p.R1205K 0.016 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 155 0 0 141 12 7.84314 RGS9 0 genome.wustl.edu 37 17 63221501 63221501 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 63221501 63221501 G A SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.1789 p.A597T 1.000 NULL pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 102 0 0 113 12 9.6 AIPL1 0 genome.wustl.edu 37 17 6329092 6329092 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 6329092 6329092 G A SNP AIPL1 ENST00000381129 human ensembl 74_37 -1 known silent c.843 p.A281 0.084 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_PPIase_FKBP_dom,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors AIPL1 HGNC ENSG00000129221 25 0 0 37 7 15.9091 AXIN2 0 genome.wustl.edu 37 17 63533080 63533080 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 63533080 63533080 G A SNP AXIN2 ENST00000307078 human ensembl 74_37 -1 known missense c.1814 p.A605V 0.000 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 65 0 0 67 6 8.21918 PITPNM3 0 genome.wustl.edu 37 17 6377778 6377778 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 6377778 6377778 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.1232 p.R411Q 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 28 0 0 30 4 11.7647 CACNG1 0 genome.wustl.edu 37 17 65040890 65040890 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 65040890 65040890 C T SNP CACNG1 ENST00000226021 human ensembl 74_37 +1 known silent c.114 p.H38 0.158 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g1su,prints_VDCC_gsu - no_errors CACNG1 HGNC ENSG00000108878 45 0 0 52 9 14.7541 KPNA2 0 genome.wustl.edu 37 17 66040035 66040035 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 66040035 66040035 G A SNP KPNA2 ENST00000330459 human ensembl 74_37 +1 known missense c.1012 p.A338T 0.994 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 269 0 0 217 24 9.95851 ARSG 0 genome.wustl.edu 37 17 66416413 66416413 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 66416413 66416413 G A SNP ARSG ENST00000448504 human ensembl 74_37 +1 known missense c.1387 p.A463T 0.022 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSG HGNC ENSG00000141337 90 0 0 68 27 28.4211 FAM20A 0 genome.wustl.edu 37 17 66551755 66551755 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 66551755 66551755 G A SNP FAM20A ENST00000592554 human ensembl 74_37 -1 known silent c.534 p.S178 0.436 NULL pfam_DUF1193 - no_errors FAM20A HGNC ENSG00000108950 76 0 0 87 5 5.43478 FBXO39 0 genome.wustl.edu 37 17 6683582 6683582 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 6683582 6683582 A G SNP FBXO39 ENST00000321535 human ensembl 74_37 +1 known missense c.395 p.Q132R 1.000 NULL NULL - no_errors FBXO39 HGNC ENSG00000177294 83 0 0 71 8 10.1266 ABCA9 0 genome.wustl.edu 37 17 67041327 67041327 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 67041327 67041327 T C SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.455 p.H152R 0.945 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 73 0 0 50 4 7.40741 ABCA9 0 genome.wustl.edu 37 17 67047255 67047255 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 67047255 67047255 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.13 p.R5C 0.003 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 79 0 0 51 19 27.1429 ABCA5 0 genome.wustl.edu 37 17 67250502 67250502 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 67250502 67250502 C T SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.4201 p.A1401T 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 168 0 0 99 8 7.47664 ABCA5 0 genome.wustl.edu 37 17 67293435 67293435 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 67293435 67293435 T G SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known silent c.1333 p.R445 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 155 0 0 88 14 13.7255 ALOX12 0 genome.wustl.edu 37 17 6909216 6909216 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 6909216 6909216 C A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.1288 p.R430S 0.000 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 67 0 0 52 6 10.3448 NXN 0 genome.wustl.edu 37 17 704358 704358 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 704358 704358 T A SNP NXN ENST00000336868 human ensembl 74_37 -1 known missense c.1139 p.D380V 1.000 superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold - no_errors NXN HGNC ENSG00000167693 42 0 0 40 6 13.0435 SSTR2 0 genome.wustl.edu 37 17 71166456 71166456 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 71166456 71166456 G A SNP SSTR2 ENST00000357585 human ensembl 74_37 +1 known missense c.998 p.S333N 1.000 prints_Somatstn_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_2,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5 - no_errors SSTR2 HGNC ENSG00000180616 77 0 0 75 6 7.40741 COG1 0 genome.wustl.edu 37 17 71199167 71199167 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 71199167 71199167 T C SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.2102 p.L701S 0.870 NULL NULL - no_errors COG1 HGNC ENSG00000166685 105 0 0 77 6 7.22892 C17orf80 0 genome.wustl.edu 37 17 71232596 71232596 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 71232596 71232596 G A SNP C17orf80 ENST00000359042 human ensembl 74_37 +1 known silent c.975 p.R325 0.000 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 32 0 0 36 3 7.69231 C17orf80 0 genome.wustl.edu 37 17 71239049 71239049 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 71239049 71239049 A G SNP C17orf80 ENST00000359042 human ensembl 74_37 +1 known missense c.1636 p.N546D 0.028 NULL NULL - no_errors C17orf80 HGNC ENSG00000141219 49 0 0 40 7 14.8936 CDC42EP4 0 genome.wustl.edu 37 17 71282494 71282494 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 71282494 71282494 T A SNP CDC42EP4 ENST00000335793 human ensembl 74_37 -1 known missense c.146 p.D49V 1.000 pfam_CRIB_dom,smart_CRIB_dom pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP4 HGNC ENSG00000179604 67 0 0 65 5 7.14286 TTYH2 0 genome.wustl.edu 37 17 72227099 72227099 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72227099 72227099 G T SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.375 p.L125F 0.999 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 98 0 0 87 8 8.42105 TTYH2 0 genome.wustl.edu 37 17 72249893 72249893 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72249893 72249893 G A SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known splice_site c.1446-1 e13-1 1.000 - - - no_errors TTYH2 HGNC ENSG00000141540 66 0 0 73 7 8.75 NEURL4 0 genome.wustl.edu 37 17 7229645 7229645 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7229645 7229645 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.1222 p.G408S 1.000 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 34 0 0 24 7 22.5806 KIF19 0 genome.wustl.edu 37 17 72340925 72340925 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72340925 72340925 A G SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.608 p.N203S 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 KIF19 HGNC ENSG00000196169 70 0 0 44 16 26.6667 KIF19 0 genome.wustl.edu 37 17 72351389 72351389 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72351389 72351389 G T SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.2935 p.G979W 0.013 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 34 0 0 39 6 13.3333 GPR142 0 genome.wustl.edu 37 17 72368331 72368331 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72368331 72368331 C T SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known silent c.981 p.G327 0.976 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 23 0 0 33 5 13.1579 CD300LB 0 genome.wustl.edu 37 17 72521943 72521943 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72521943 72521943 C A SNP CD300LB ENST00000392621 human ensembl 74_37 -1 known missense c.425 p.G142V 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300LB HGNC ENSG00000178789 211 1 0.471698 164 48 22.6415 NAT9 0 genome.wustl.edu 37 17 72768367 72768367 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72768367 72768367 C T SNP NAT9 ENST00000357814 human ensembl 74_37 -1 known missense c.384 p.M128I 1.000 pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 34 0 0 27 4 12.9032 FDXR 0 genome.wustl.edu 37 17 72861880 72861880 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72861880 72861880 G A SNP FDXR ENST00000581530 human ensembl 74_37 -1 known silent c.570 p.D190 0.786 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 35 0 0 27 10 27.027 FDXR 0 genome.wustl.edu 37 17 72862566 72862566 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72862566 72862566 A G SNP FDXR ENST00000581530 human ensembl 74_37 -1 known splice_site c.393+2 e4+2 1.000 - - - no_errors FDXR HGNC ENSG00000161513 14 0 0 10 4 28.5714 OTOP3 0 genome.wustl.edu 37 17 72943337 72943337 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 72943337 72943337 G A SNP OTOP3 ENST00000328801 human ensembl 74_37 +1 known missense c.1387 p.A463T 0.750 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP3 HGNC ENSG00000182938 35 0 0 21 7 25 SLC16A5 0 genome.wustl.edu 37 17 73089824 73089824 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73089824 73089824 C T SNP SLC16A5 ENST00000329783 human ensembl 74_37 +1 known silent c.93 p.P31 0.099 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A5 HGNC ENSG00000170190 79 0 0 78 23 22.7723 CASKIN2 0 genome.wustl.edu 37 17 73500972 73500972 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73500972 73500972 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known silent c.1113 p.P371 0.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 29 0 0 28 2 6.66667 CHRNB1 0 genome.wustl.edu 37 17 7351977 7351977 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7351977 7351977 A T SNP CHRNB1 ENST00000306071 human ensembl 74_37 +1 known silent c.690 p.G230 0.999 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB1 HGNC ENSG00000170175 65 0 0 54 6 10 SAP30BP 0 genome.wustl.edu 37 17 73664707 73664707 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73664707 73664707 T C SNP SAP30BP ENST00000584667 human ensembl 74_37 +1 known splice_site c.216+2 e2+2 1.000 - - - no_errors SAP30BP HGNC ENSG00000161526 69 0 0 45 6 11.7647 UNC13D 0 genome.wustl.edu 37 17 73831532 73831532 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73831532 73831532 G A SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known silent c.1806 p.N602 0.526 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 20 0 0 16 3 15.7895 ACOX1 0 genome.wustl.edu 37 17 73956385 73956385 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73956385 73956385 T C SNP ACOX1 ENST00000293217 human ensembl 74_37 -1 known missense c.341 p.Q114R 1.000 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 57 0 0 35 7 16.6667 CDK3 0 genome.wustl.edu 37 17 73998612 73998612 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73998612 73998612 C T SNP CDK3 ENST00000425876 human ensembl 74_37 +1 known silent c.507 p.R169 0.920 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 CDK3 HGNC ENSG00000250506 67 0 0 67 7 9.45946 EVPL 0 genome.wustl.edu 37 17 74003870 74003870 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74003870 74003870 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.5416 p.P1806S 0.002 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 94 0 0 105 11 9.48276 EVPL 0 genome.wustl.edu 37 17 74013872 74013872 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74013872 74013872 A T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.1658 p.L553Q 0.995 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 53 0 0 53 4 7.01754 RNF157 0 genome.wustl.edu 37 17 74163130 74163130 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74163130 74163130 G T SNP RNF157 ENST00000269391 human ensembl 74_37 -1 known missense c.521 p.P174H 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 111 1 0.892857 95 19 16.6667 PRPSAP1 0 genome.wustl.edu 37 17 74307730 74307730 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74307730 74307730 T C SNP PRPSAP1 ENST00000446526 human ensembl 74_37 -1 known missense c.1051 p.K351E 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 105 0 0 82 9 9.89011 SPHK1 0 genome.wustl.edu 37 17 74383020 74383020 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74383020 74383020 G A SNP SPHK1 ENST00000323374 human ensembl 74_37 +1 known missense c.766 p.A256T 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK1 HGNC ENSG00000176170 69 0 0 74 13 14.9425 UBE2O 0 genome.wustl.edu 37 17 74387043 74387043 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74387043 74387043 T C SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.3860 p.E1287G 0.980 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 103 0 0 121 10 7.63359 UBE2O 0 genome.wustl.edu 37 17 74394418 74394418 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74394418 74394418 T C SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.1943 p.H648R 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 318 1 0.31348 289 37 11.3497 UBE2O 0 genome.wustl.edu 37 17 74395720 74395720 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74395720 74395720 C T SNP UBE2O ENST00000319380 human ensembl 74_37 -1 known missense c.1438 p.A480T 0.973 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 85 0 0 81 19 19 SENP3 0 genome.wustl.edu 37 17 7468286 7468286 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7468286 7468286 C T SNP SENP3 ENST00000429205 human ensembl 74_37 +1 known silent c.966 p.D322 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP3 HGNC ENSG00000161956 44 0 0 35 11 23.913 SEC14L1 0 genome.wustl.edu 37 17 75209491 75209491 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 75209491 75209491 C T SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.1959 p.D653 1.000 superfamily_GOLD,pfscan_GOLD pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 41 0 0 43 4 8.51064 SEC14L1 0 genome.wustl.edu 37 17 75210055 75210055 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 75210055 75210055 G A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.2098 p.A700T 1.000 NULL pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 76 0 0 53 9 14.5161 SEPT9 0 genome.wustl.edu 37 17 75478396 75478396 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 75478396 75478396 G A SNP SEPT9 ENST00000427177 human ensembl 74_37 +1 known missense c.892 p.E298K 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 44 0 0 29 6 17.1429 TNRC6C 0 genome.wustl.edu 37 17 76046762 76046762 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 76046762 76046762 C T SNP TNRC6C ENST00000335749 human ensembl 74_37 +1 known missense c.1619 p.S540L 0.950 NULL pfam_Argonaute_hook_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 117 0 0 89 23 20.5357 WRAP53 0 genome.wustl.edu 37 17 7604986 7604986 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7604986 7604986 G A SNP WRAP53 ENST00000316024 human ensembl 74_37 +1 known silent c.834 p.T278 0.894 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WRAP53 HGNC ENSG00000141499 93 0 0 93 9 8.82353 TMC8 0 genome.wustl.edu 37 17 76128901 76128901 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 76128901 76128901 C T SNP TMC8 ENST00000318430 human ensembl 74_37 +1 known missense c.481 p.P161S 0.003 NULL pfam_TMC - no_errors TMC8 HGNC ENSG00000167895 95 0 0 118 8 6.34921 DNAH17 0 genome.wustl.edu 37 17 76471424 76471424 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 76471424 76471424 T C SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known missense c.8405 p.Y2802C 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 96 0 0 94 8 7.84314 LGALS3BP 0 genome.wustl.edu 37 17 76968044 76968044 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 76968044 76968044 A G SNP LGALS3BP ENST00000262776 human ensembl 74_37 -1 known missense c.1372 p.Y458H 0.000 NULL pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR - no_errors LGALS3BP HGNC ENSG00000108679 54 0 0 46 5 9.80392 DNAH2 0 genome.wustl.edu 37 17 7710589 7710589 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7710589 7710589 C T SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.9564 p.R3188 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 138 0 0 116 10 7.93651 DNAH2 0 genome.wustl.edu 37 17 7727218 7727218 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7727218 7727218 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.11396 p.R3799H 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 60 0 0 55 11 16.6667 DNAH2 0 genome.wustl.edu 37 17 7727556 7727556 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7727556 7727556 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.11596 p.A3866T 0.998 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 49 0 0 37 7 15.9091 CBX8 0 genome.wustl.edu 37 17 77770303 77770303 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 77770303 77770303 A G SNP CBX8 ENST00000269385 human ensembl 74_37 -1 known missense c.106 p.S36P 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CBX8 HGNC ENSG00000141570 108 0 0 82 19 18.8119 CBX4 0 genome.wustl.edu 37 17 77807929 77807929 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 77807929 77807929 C T SNP CBX4 ENST00000269397 human ensembl 74_37 -1 known silent c.1512 p.A504 0.041 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow - no_errors CBX4 HGNC ENSG00000141582 62 0 0 52 8 13.3333 CCDC40 0 genome.wustl.edu 37 17 78069165 78069165 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78069165 78069165 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.2936 p.R979H 0.871 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 63 0 0 62 5 7.46269 CHD3 0 genome.wustl.edu 37 17 7814196 7814196 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7814196 7814196 C T SNP CHD3 ENST00000330494 human ensembl 74_37 +1 known missense c.5786 p.P1929L 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 140 0 0 153 37 19.4737 SLC26A11 0 genome.wustl.edu 37 17 78195462 78195462 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78195462 78195462 C T SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known missense c.103 p.P35S 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 36 0 0 38 3 7.31707 SLC26A11 0 genome.wustl.edu 37 17 78210898 78210898 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78210898 78210898 T C SNP SLC26A11 ENST00000361193 human ensembl 74_37 +1 known missense c.908 p.V303A 0.992 pfam_Sulph_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A11 HGNC ENSG00000181045 45 0 0 54 4 6.89655 RNF213 0 genome.wustl.edu 37 17 78280153 78280153 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78280153 78280153 T C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.2312 p.V771A 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 134 0 0 117 9 7.14286 RNF213 0 genome.wustl.edu 37 17 78314040 78314040 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78314040 78314040 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.5873 p.A1958V 0.005 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 34 0 0 34 4 10.5263 RNF213 0 genome.wustl.edu 37 17 78318781 78318781 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78318781 78318781 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.6646 p.R2216W 0.001 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 153 0 0 98 37 27.4074 RNF213 0 genome.wustl.edu 37 17 78321547 78321547 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78321547 78321547 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.9412 p.V3138I 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 51 0 0 52 20 27.7778 RNF213 0 genome.wustl.edu 37 17 78321938 78321938 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78321938 78321938 T C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.9803 p.V3268A 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 63 0 0 68 9 11.6883 RNF213 0 genome.wustl.edu 37 17 78343340 78343340 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78343340 78343340 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.12194 p.C4065Y 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 159 0 0 128 9 6.56934 RNF213 0 genome.wustl.edu 37 17 78360533 78360533 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 78360533 78360533 A C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.14764 p.S4922R 1.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 100 0 0 99 7 6.60377 CNTROB 0 genome.wustl.edu 37 17 7842846 7842846 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7842846 7842846 G T SNP CNTROB ENST00000380262 human ensembl 74_37 +1 known missense c.943 p.A315S 0.999 NULL NULL - no_errors CNTROB HGNC ENSG00000170037 161 0 0 146 13 8.1761 GUCY2D 0 genome.wustl.edu 37 17 7906918 7906918 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7906918 7906918 G A SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.553 p.A185T 0.995 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,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 11 0 0 15 3 16.6667 AZI1 0 genome.wustl.edu 37 17 79177336 79177336 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79177336 79177336 G A SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.587 p.A196V 0.000 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 16 0 0 14 3 17.6471 SLC38A10 0 genome.wustl.edu 37 17 79226324 79226324 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79226324 79226324 G A SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.1616 p.A539V 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 82 0 0 63 21 25 SLC38A10 0 genome.wustl.edu 37 17 79254484 79254484 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79254484 79254484 C A SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.551 p.R184L 0.993 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 24 0 0 27 3 10 ALOX15B 0 genome.wustl.edu 37 17 7951813 7951813 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7951813 7951813 G A SNP ALOX15B ENST00000380183 human ensembl 74_37 +1 known missense c.1961 p.R654Q 0.972 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX15B HGNC ENSG00000179593 61 0 0 45 14 23.7288 SLC25A10 0 genome.wustl.edu 37 17 79687071 79687071 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79687071 79687071 G T SNP SLC25A10 ENST00000541223 human ensembl 74_37 +1 known missense c.1293 p.Q431H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors SLC25A10 HGNC ENSG00000183048 81 0 0 71 6 7.79221 P4HB 0 genome.wustl.edu 37 17 79804462 79804462 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79804462 79804462 C T SNP P4HB ENST00000331483 human ensembl 74_37 -1 known missense c.899 p.R300H 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 52 0 0 45 7 13.4615 ARHGDIA 0 genome.wustl.edu 37 17 79826767 79826767 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79826767 79826767 C A SNP ARHGDIA ENST00000269321 human ensembl 74_37 -1 known missense c.600 p.K200N 1.000 pfam_Rho_GDI,superfamily_Ig_E-set pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIA HGNC ENSG00000141522 65 0 0 62 8 11.4286 SIRT7 0 genome.wustl.edu 37 17 79873553 79873553 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79873553 79873553 G A SNP SIRT7 ENST00000328666 human ensembl 74_37 -1 known missense c.341 p.A114V 1.000 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT7 HGNC ENSG00000187531 26 0 0 18 3 14.2857 RAC3 0 genome.wustl.edu 37 17 79990609 79990609 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79990609 79990609 G A SNP RAC3 ENST00000306897 human ensembl 74_37 +1 known missense c.130 p.V44M 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC3 HGNC ENSG00000169750 75 0 0 56 27 32.5301 GPS1 0 genome.wustl.edu 37 17 80011878 80011878 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 80011878 80011878 C T SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known silent c.381 p.N127 0.783 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 17 0 0 20 9 31.0345 GPS1 0 genome.wustl.edu 37 17 80014394 80014394 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 80014394 80014394 T C SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.1204 p.Y402H 1.000 pfam_PCI_dom,smart_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 33 0 0 29 3 9.375 CCDC57 0 genome.wustl.edu 37 17 80136446 80136446 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 80136446 80136446 T C SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known silent c.1410 p.L470 0.064 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 27 0 0 30 8 21.0526 CCDC57 0 genome.wustl.edu 37 17 80159603 80159603 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 80159603 80159603 C T SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.218 p.R73H 0.997 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 71 0 0 57 21 26.9231 C17orf62 0 genome.wustl.edu 37 17 80402405 80402405 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 80402405 80402405 C T SNP C17orf62 ENST00000306645 human ensembl 74_37 -1 known missense c.361 p.G121R 1.000 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 87 0 0 77 6 7.22892 TBCD 0 genome.wustl.edu 37 17 80861301 80861301 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 80861301 80861301 C T SNP TBCD ENST00000355528 human ensembl 74_37 +1 known missense c.1751 p.A584V 0.030 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 12 0 0 21 4 16 PFAS 0 genome.wustl.edu 37 17 8167098 8167098 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 8167098 8167098 G A SNP PFAS ENST00000314666 human ensembl 74_37 +1 known silent c.1635 p.G545 0.957 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 62 0 0 65 7 9.72222 PFAS 0 genome.wustl.edu 37 17 8168393 8168393 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 8168393 8168393 G A SNP PFAS ENST00000314666 human ensembl 74_37 +1 known missense c.2230 p.V744M 1.000 superfamily_PurM_N-like,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 40 0 0 27 3 10 ARHGEF15 0 genome.wustl.edu 37 17 8215626 8215626 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 8215626 8215626 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.269 p.S90F 0.696 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 118 0 0 128 14 9.85915 MYH10 0 genome.wustl.edu 37 17 8422252 8422252 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 8422252 8422252 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.2260 p.P754S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 84 0 0 51 6 10.5263 TIMM22 0 genome.wustl.edu 37 17 902817 902817 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 902817 902817 T G SNP TIMM22 ENST00000327158 human ensembl 74_37 +1 known silent c.501 p.G167 1.000 pfam_Tim17/Tim22/Tim23/PMP24 pfam_Tim17/Tim22/Tim23/PMP24 - no_errors TIMM22 HGNC ENSG00000177370 141 0 0 106 10 8.62069 USP43 0 genome.wustl.edu 37 17 9586272 9586272 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 9586272 9586272 G A SNP USP43 ENST00000285199 human ensembl 74_37 +1 known missense c.1238 p.S413N 0.996 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP43 HGNC ENSG00000154914 108 1 0.917431 89 7 7.29167 PIEZO2 0 genome.wustl.edu 37 18 10671647 10671647 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 10671647 10671647 T G SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known silent c.2007 p.T669 0.955 pfam_Piezo pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 84 0 0 55 7 11.2903 PIEZO2 0 genome.wustl.edu 37 18 10696277 10696277 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 10696277 10696277 C T SNP PIEZO2 ENST00000538948 human ensembl 74_37 -1 known missense c.517 p.A173T 0.994 NULL pfam_Piezo - no_errors PIEZO2 HGNC ENSG00000154864 45 0 0 47 13 21.6667 CIDEA 0 genome.wustl.edu 37 18 12274124 12274124 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 12274124 12274124 G A SNP CIDEA ENST00000320477 human ensembl 74_37 +1 known silent c.363 p.P121 0.301 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEA HGNC ENSG00000176194 61 0 0 58 17 22.6667 AFG3L2 0 genome.wustl.edu 37 18 12367305 12367305 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 12367305 12367305 A G SNP AFG3L2 ENST00000269143 human ensembl 74_37 -1 known silent c.369 p.D123 0.592 NULL 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 221 0 0 154 11 6.66667 CEP76 0 genome.wustl.edu 37 18 12678171 12678171 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 12678171 12678171 G A SNP CEP76 ENST00000262127 human ensembl 74_37 -1 known silent c.1560 p.D520 0.999 NULL superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 126 0 0 92 9 8.91089 CEP76 0 genome.wustl.edu 37 18 12699092 12699092 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 12699092 12699092 A T SNP CEP76 ENST00000262127 human ensembl 74_37 -1 known missense c.406 p.F136I 1.000 superfamily_C2_dom superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 106 0 0 84 10 10.6383 PSMG2 0 genome.wustl.edu 37 18 12724555 12724555 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 12724555 12724555 C T SNP PSMG2 ENST00000317615 human ensembl 74_37 +1 known silent c.639 p.N213 1.000 pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 67 0 0 45 6 11.7647 CEP192 0 genome.wustl.edu 37 18 13087145 13087145 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13087145 13087145 C T SNP CEP192 ENST00000506447 human ensembl 74_37 +1 known missense c.5746 p.R1916C 1.000 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 127 0 0 74 24 24.4898 LDLRAD4 0 genome.wustl.edu 37 18 13438344 13438344 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13438344 13438344 C G SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.142 p.L48V 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 107 0 0 61 19 23.75 LDLRAD4 0 genome.wustl.edu 37 18 13645246 13645246 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13645246 13645246 A G SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.511 p.T171A 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 82 0 0 76 6 7.31707 FAM210A 0 genome.wustl.edu 37 18 13681828 13681828 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13681828 13681828 A T SNP FAM210A ENST00000322247 human ensembl 74_37 -1 known missense c.249 p.H83Q 0.000 NULL pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 210 0 0 193 14 6.76329 RNMT 0 genome.wustl.edu 37 18 13734595 13734595 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13734595 13734595 A G SNP RNMT ENST00000262173 human ensembl 74_37 +1 known missense c.550 p.I184V 1.000 pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 133 0 0 78 6 7.14286 RNMT 0 genome.wustl.edu 37 18 13742637 13742637 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13742637 13742637 T C SNP RNMT ENST00000262173 human ensembl 74_37 +1 known silent c.1125 p.F375 1.000 pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 115 1 0.862069 73 8 9.87654 SNRPD1 0 genome.wustl.edu 37 18 19203854 19203854 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 19203854 19203854 A G SNP SNRPD1 ENST00000579618 human ensembl 74_37 +1 putative missense c.110 p.Y37C 0.993 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom - no_errors SNRPD1 HGNC ENSG00000167088 80 0 0 54 5 8.47458 GATA6 0 genome.wustl.edu 37 18 19762796 19762796 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 19762796 19762796 A T SNP GATA6 ENST00000269216 human ensembl 74_37 +1 known missense c.1507 p.T503S 0.834 NULL pfam_GATA_N,pfam_Znf_GATA,smart_Znf_GATA,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA6 HGNC ENSG00000141448 61 0 0 49 9 15.5172 CABLES1 0 genome.wustl.edu 37 18 20814617 20814617 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 20814617 20814617 T C SNP CABLES1 ENST00000256925 human ensembl 74_37 +1 known silent c.1134 p.S378 0.995 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES1 HGNC ENSG00000134508 56 0 0 40 5 11.1111 C18orf8 0 genome.wustl.edu 37 18 21109232 21109232 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 21109232 21109232 C T SNP C18orf8 ENST00000269221 human ensembl 74_37 +1 known silent c.1386 p.T462 0.983 NULL pfam_Mic1,superfamily_WD40_repeat_dom - no_errors C18orf8 HGNC ENSG00000141452 65 0 0 64 5 7.24638 LAMA3 0 genome.wustl.edu 37 18 21413846 21413846 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 21413846 21413846 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.2878 p.V960I 0.002 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 216 0 0 171 60 25.974 LAMA3 0 genome.wustl.edu 37 18 21413908 21413908 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 21413908 21413908 G A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known silent c.2940 p.G980 0.000 NULL pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 255 0 0 231 25 9.76562 THOC1 0 genome.wustl.edu 37 18 214854 214854 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 214854 214854 A C SNP THOC1 ENST00000261600 human ensembl 74_37 -1 known silent c.1746 p.G582 0.933 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 189 0 0 133 13 8.90411 LAMA3 0 genome.wustl.edu 37 18 21496586 21496586 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 21496586 21496586 C T SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.7850 p.A2617V 0.002 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 125 0 0 101 8 7.33945 LAMA3 0 genome.wustl.edu 37 18 21508129 21508129 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 21508129 21508129 T A SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.8220 p.N2740K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 99 0 0 90 5 5.26316 CABYR 0 genome.wustl.edu 37 18 21739458 21739458 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 21739458 21739458 A T SNP CABYR ENST00000399496 human ensembl 74_37 +1 known silent c.564 p.G188 1.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 84 0 0 67 5 6.94444 OSBPL1A 0 genome.wustl.edu 37 18 21819305 21819305 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 21819305 21819305 T C SNP OSBPL1A ENST00000319481 human ensembl 74_37 -1 known silent c.1323 p.K441 1.000 NULL 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 52 0 0 43 3 6.52174 HRH4 0 genome.wustl.edu 37 18 22057338 22057338 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 22057338 22057338 T C SNP HRH4 ENST00000256906 human ensembl 74_37 +1 known missense c.985 p.Y329H 0.016 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 295 0 0 251 23 8.39416 SS18 0 genome.wustl.edu 37 18 23632767 23632767 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 23632767 23632767 A T SNP SS18 ENST00000415083 human ensembl 74_37 -1 known missense c.428 p.L143H 0.991 NULL pfam_SS18_fam - no_errors SS18 HGNC ENSG00000141380 177 0 0 152 14 8.43373 PSMA8 0 genome.wustl.edu 37 18 23713955 23713955 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 23713955 23713955 T A SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.26 p.I9N 1.000 pfam_Proteasome_asu_N,smart_Proteasome_asu_N pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 86 0 0 81 5 5.81395 PSMA8 0 genome.wustl.edu 37 18 23738101 23738101 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 23738101 23738101 A G SNP PSMA8 ENST00000308268 human ensembl 74_37 +1 known missense c.388 p.N130D 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA8 HGNC ENSG00000154611 176 0 0 116 15 11.4504 KCTD1 0 genome.wustl.edu 37 18 24035751 24035751 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 24035751 24035751 G A SNP KCTD1 ENST00000417602 human ensembl 74_37 -1 known missense c.2554 p.R852C 1.000 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 100 0 0 75 23 23.4694 DSC2 0 genome.wustl.edu 37 18 28659862 28659862 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 28659862 28659862 C A SNP DSC2 ENST00000280904 human ensembl 74_37 -1 known missense c.1614 p.E538D 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC2 HGNC ENSG00000134755 233 2 0.851064 158 17 9.71429 EMILIN2 0 genome.wustl.edu 37 18 2885039 2885039 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 2885039 2885039 G T SNP EMILIN2 ENST00000254528 human ensembl 74_37 +1 known missense c.335 p.G112V 1.000 pfam_EMI_domain,pfscan_EMI_domain pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 84 0 0 93 10 9.70874 DSG4 0 genome.wustl.edu 37 18 28986263 28986263 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 28986263 28986263 A G SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known silent c.1860 p.Q620 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 104 0 0 113 6 5.04202 TRAPPC8 0 genome.wustl.edu 37 18 29410886 29410886 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 29410886 29410886 A G SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known silent c.4140 p.L1380 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 110 0 0 62 20 24.3902 TRAPPC8 0 genome.wustl.edu 37 18 29432581 29432581 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 29432581 29432581 G A SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known missense c.3479 p.A1160V 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 320 1 0.311526 232 19 7.56972 RNF125 0 genome.wustl.edu 37 18 29617122 29617122 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 29617122 29617122 T C SNP RNF125 ENST00000217740 human ensembl 74_37 +1 known missense c.208 p.W70R 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 265 0 0 222 25 10.1215 RNF125 0 genome.wustl.edu 37 18 29645945 29645945 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 29645945 29645945 T C SNP RNF125 ENST00000217740 human ensembl 74_37 +1 known silent c.585 p.S195 0.848 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF125 HGNC ENSG00000101695 153 0 0 86 9 9.47368 KLHL14 0 genome.wustl.edu 37 18 30350377 30350377 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 30350377 30350377 A T SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known missense c.178 p.S60T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 36 0 0 30 6 16.6667 ASXL3 0 genome.wustl.edu 37 18 31319679 31319679 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 31319679 31319679 T A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.2311 p.S771T 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 115 0 0 88 12 12 ASXL3 0 genome.wustl.edu 37 18 31323514 31323514 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 31323514 31323514 T A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.3702 p.N1234K 0.993 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 96 0 0 60 6 9.09091 MYOM1 0 genome.wustl.edu 37 18 3142042 3142042 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 3142042 3142042 G A SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known silent c.1920 p.P640 0.590 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 100 0 0 93 10 9.70874 NOL4 0 genome.wustl.edu 37 18 31599387 31599387 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 31599387 31599387 C T SNP NOL4 ENST00000261592 human ensembl 74_37 -1 known silent c.951 p.S317 0.426 NULL NULL - no_errors NOL4 HGNC ENSG00000101746 116 0 0 80 7 8.04598 ZSCAN30 0 genome.wustl.edu 37 18 32844000 32844000 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 32844000 32844000 G A SNP ZSCAN30 ENST00000333206 human ensembl 74_37 -1 known missense c.317 p.A106V 0.998 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZSCAN30 HGNC ENSG00000186814 59 0 0 58 4 6.45161 ZNF396 0 genome.wustl.edu 37 18 32948335 32948335 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 32948335 32948335 A T SNP ZNF396 ENST00000306346 human ensembl 74_37 -1 known missense c.982 p.S328T 0.018 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 ZNF396 HGNC ENSG00000186496 136 0 0 76 8 9.52381 RPRD1A 0 genome.wustl.edu 37 18 33607161 33607161 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 33607161 33607161 A G SNP RPRD1A ENST00000357384 human ensembl 74_37 -1 known missense c.599 p.L200S 0.974 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1A HGNC ENSG00000141425 158 0 0 116 11 8.66142 SLC39A6 0 genome.wustl.edu 37 18 33689669 33689669 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 33689669 33689669 A G SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.2155 p.C719R 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 203 0 0 133 15 10.1351 SLC39A6 0 genome.wustl.edu 37 18 33702206 33702206 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 33702206 33702206 T C SNP SLC39A6 ENST00000269187 human ensembl 74_37 -1 known missense c.1168 p.S390G 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A6 HGNC ENSG00000141424 202 0 0 150 14 8.53659 ELP2 0 genome.wustl.edu 37 18 33726313 33726313 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 33726313 33726313 T C SNP ELP2 ENST00000358232 human ensembl 74_37 +1 known missense c.1094 p.L365S 0.962 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 - no_errors ELP2 HGNC ENSG00000134759 136 0 0 107 7 6.14035 MOCOS 0 genome.wustl.edu 37 18 33779754 33779754 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 33779754 33779754 G T SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.408 p.Q136H 0.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 58 0 0 56 3 5.08475 MOCOS 0 genome.wustl.edu 37 18 33795548 33795548 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 33795548 33795548 T G SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.1405 p.F469V 0.997 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 59 0 0 52 3 5.45455 MOCOS 0 genome.wustl.edu 37 18 33795876 33795876 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 33795876 33795876 C G SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known missense c.1733 p.A578G 0.000 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 50 0 0 64 7 9.85915 FHOD3 0 genome.wustl.edu 37 18 34205603 34205603 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 34205603 34205603 C T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.1087 p.R363C 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 59 0 0 51 25 32.8947 TPGS2 0 genome.wustl.edu 37 18 34398915 34398915 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 34398915 34398915 T C SNP TPGS2 ENST00000334295 human ensembl 74_37 -1 known missense c.107 p.E36G 0.957 NULL smart_SMI1/KNR4_like_dom - no_errors TPGS2 HGNC ENSG00000134779 153 0 0 102 8 7.27273 DLGAP1 0 genome.wustl.edu 37 18 3879483 3879483 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 3879483 3879483 T C SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.586 p.S196G 0.747 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 134 0 0 128 9 6.56934 SETBP1 0 genome.wustl.edu 37 18 42530292 42530292 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 42530292 42530292 T C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.987 p.P329 0.002 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 87 0 0 78 7 8.23529 SETBP1 0 genome.wustl.edu 37 18 42533228 42533228 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 42533228 42533228 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.3923 p.T1308M 0.996 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 82 0 0 52 16 23.5294 SLC14A2 0 genome.wustl.edu 37 18 43219786 43219786 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 43219786 43219786 G A SNP SLC14A2 ENST00000255226 human ensembl 74_37 +1 known missense c.919 p.V307M 1.000 pfam_Urea_transporter pfam_Urea_transporter - no_errors SLC14A2 HGNC ENSG00000132874 74 0 0 86 9 9.47368 EPG5 0 genome.wustl.edu 37 18 43510722 43510722 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 43510722 43510722 T C SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.2332 p.T778A 0.941 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 73 0 0 51 7 12.069 EPG5 0 genome.wustl.edu 37 18 43532382 43532382 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 43532382 43532382 A G SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known silent c.1236 p.I412 0.892 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 91 0 0 64 8 11.1111 PSTPIP2 0 genome.wustl.edu 37 18 43577772 43577772 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 43577772 43577772 G A SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known silent c.585 p.I195 0.715 NULL pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP2 HGNC ENSG00000152229 170 0 0 109 35 24.3056 PSTPIP2 0 genome.wustl.edu 37 18 43578806 43578806 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 43578806 43578806 C T SNP PSTPIP2 ENST00000409746 human ensembl 74_37 -1 known splice_site c.517-1 e8-1 1.000 - - - no_errors PSTPIP2 HGNC ENSG00000152229 82 0 0 81 6 6.89655 ATP5A1 0 genome.wustl.edu 37 18 43664567 43664567 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 43664567 43664567 A G SNP ATP5A1 ENST00000282050 human ensembl 74_37 -1 known missense c.1483 p.Y495H 0.989 pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_F1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_F1-cplx_asu - no_errors ATP5A1 HGNC ENSG00000152234 58 0 0 39 6 13.3333 HAUS1 0 genome.wustl.edu 37 18 43705714 43705714 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 43705714 43705714 C T SNP HAUS1 ENST00000282058 human ensembl 74_37 +1 known missense c.743 p.P248L 1.000 NULL NULL - no_errors HAUS1 HGNC ENSG00000152240 39 0 0 25 5 16.6667 PIAS2 0 genome.wustl.edu 37 18 44392485 44392485 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 44392485 44392485 T C SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.1777 p.T593A 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 64 0 0 56 3 5.08475 PIAS2 0 genome.wustl.edu 37 18 44470945 44470945 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 44470945 44470945 G A SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.97 p.R33C 1.000 smart_SAP_dom,pfscan_SAP_dom pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 117 0 0 76 22 22.449 TCEB3B 0 genome.wustl.edu 37 18 44559507 44559507 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 44559507 44559507 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.2129 p.A710V 0.012 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 66 0 0 63 21 25 TCEB3B 0 genome.wustl.edu 37 18 44560674 44560674 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 44560674 44560674 T C SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.962 p.D321G 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 135 1 0.735294 131 15 10.274 TCEB3B 0 genome.wustl.edu 37 18 44560714 44560714 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 44560714 44560714 G A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.922 p.P308S 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 172 0 0 167 18 9.72973 TCEB3B 0 genome.wustl.edu 37 18 44561192 44561192 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 44561192 44561192 A G SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known silent c.444 p.S148 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 107 0 0 103 13 11.2069 TCEB3B 0 genome.wustl.edu 37 18 44561608 44561608 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 44561608 44561608 C T SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known missense c.28 p.A10T 0.000 superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 72 0 0 57 13 18.5714 SMAD2 0 genome.wustl.edu 37 18 45374882 45374882 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 45374882 45374882 G A SNP SMAD2 ENST00000262160 human ensembl 74_37 -1 known nonsense c.961 p.R321* 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD2 HGNC ENSG00000175387 114 0 0 91 6 6.18557 ZBTB7C 0 genome.wustl.edu 37 18 45567392 45567392 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 45567392 45567392 G A SNP ZBTB7C ENST00000332053 human ensembl 74_37 -1 known silent c.87 p.H29 0.692 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 55 0 0 48 13 21.3115 DYM 0 genome.wustl.edu 37 18 46645179 46645179 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 46645179 46645179 G A SNP DYM ENST00000269445 human ensembl 74_37 -1 known missense c.1681 p.R561C 1.000 pfam_Dymeclin,superfamily_ARM-type_fold pfam_Dymeclin,superfamily_ARM-type_fold - no_errors DYM HGNC ENSG00000141627 85 0 0 55 8 12.6984 ACAA2 0 genome.wustl.edu 37 18 47320717 47320717 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 47320717 47320717 T C SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known silent c.510 p.V170 0.003 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 71 0 0 56 5 8.19672 MYO5B 0 genome.wustl.edu 37 18 47406824 47406824 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 47406824 47406824 C T SNP MYO5B ENST00000285039 human ensembl 74_37 -1 known missense c.3047 p.R1016Q 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 320 2 0.621118 235 20 7.84314 SKA1 0 genome.wustl.edu 37 18 47917530 47917530 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 47917530 47917530 T C SNP SKA1 ENST00000285116 human ensembl 74_37 +1 known silent c.486 p.N162 1.000 pfam_DUF1395 pfam_DUF1395 - no_errors SKA1 HGNC ENSG00000154839 66 0 0 38 9 19.1489 COLEC12 0 genome.wustl.edu 37 18 480755 480755 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 480755 480755 C T SNP COLEC12 ENST00000400256 human ensembl 74_37 -1 known missense c.10 p.D4N 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors COLEC12 HGNC ENSG00000158270 93 0 0 84 8 8.69565 MAPK4 0 genome.wustl.edu 37 18 48255702 48255702 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 48255702 48255702 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known silent c.1242 p.S414 0.993 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 11 0 0 9 7 43.75 SMAD4 0 genome.wustl.edu 37 18 48603091 48603091 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 48603091 48603091 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known silent c.1392 p.A464 0.961 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 49 0 0 32 9 21.9512 SMAD4 0 genome.wustl.edu 37 18 48604854 48604854 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 48604854 48604854 G A SNP SMAD4 ENST00000586253 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SMAD4 HGNC ENSG00000141646 83 0 0 71 8 10.1266 MBD2 0 genome.wustl.edu 37 18 51731394 51731394 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 51731394 51731394 G A SNP MBD2 ENST00000256429 human ensembl 74_37 -1 known nonsense c.676 p.R226* 0.947 superfamily_DNA-bd_dom pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 199 1 0.5 133 11 7.63889 POLI 0 genome.wustl.edu 37 18 51820609 51820609 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 51820609 51820609 G A SNP POLI ENST00000579534 human ensembl 74_37 +1 known silent c.1995 p.E665 0.949 NULL pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC ENSG00000101751 91 0 0 64 8 11.1111 C18orf54 0 genome.wustl.edu 37 18 51887090 51887090 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 51887090 51887090 C T SNP C18orf54 ENST00000300091 human ensembl 74_37 +1 known nonsense c.148 p.Q50* 0.999 NULL NULL - no_errors C18orf54 HGNC ENSG00000166845 121 0 0 94 7 6.93069 ZBTB14 0 genome.wustl.edu 37 18 5291330 5291330 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 5291330 5291330 T C SNP ZBTB14 ENST00000357006 human ensembl 74_37 -1 known missense c.877 p.R293G 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB14 HGNC ENSG00000198081 72 0 0 42 7 14.2857 TCF4 0 genome.wustl.edu 37 18 52924545 52924545 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 52924545 52924545 C T SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known splice_site c.1452+1 e15+1 1.000 - - - no_errors TCF4 HGNC ENSG00000196628 79 0 0 63 14 18.1818 EPB41L3 0 genome.wustl.edu 37 18 5395110 5395110 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 5395110 5395110 T C SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.3109 p.K1037E 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 121 0 0 93 6 6.06061 TXNL1 0 genome.wustl.edu 37 18 54281794 54281794 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 54281794 54281794 T C SNP TXNL1 ENST00000217515 human ensembl 74_37 -1 known missense c.596 p.N199S 1.000 pfam_PITH_dom,superfamily_Galactose-bd-like pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold - no_errors TXNL1 HGNC ENSG00000091164 47 0 0 33 4 10.8108 WDR7 0 genome.wustl.edu 37 18 54353252 54353252 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 54353252 54353252 A G SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.586 p.S196G 0.999 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 144 0 0 105 10 8.69565 NARS 0 genome.wustl.edu 37 18 55287875 55287875 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 55287875 55287875 A G SNP NARS ENST00000256854 human ensembl 74_37 -1 known missense c.19 p.Y7H 0.999 NULL pfam_aa-tRNA-synt_II,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pfscan_aa-tRNA-synth_II,prints_Asp/Asn-tRNA-synth_IIb,tigrfam_Asn-tRNA-ligase - no_errors NARS HGNC ENSG00000134440 133 0 0 105 11 9.48276 NEDD4L 0 genome.wustl.edu 37 18 55919283 55919283 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 55919283 55919283 A G SNP NEDD4L ENST00000400345 human ensembl 74_37 +1 known silent c.294 p.R98 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 108 0 0 71 7 8.97436 ALPK2 0 genome.wustl.edu 37 18 56202770 56202770 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 56202770 56202770 T C SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.4649 p.H1550R 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 99 0 0 90 8 8.16327 ZNF532 0 genome.wustl.edu 37 18 56587141 56587141 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 56587141 56587141 G A SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.1622 p.R541H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 48 0 0 52 4 7.14286 ZNF532 0 genome.wustl.edu 37 18 56606804 56606804 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 56606804 56606804 C T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.2656 p.H886Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 126 0 0 96 14 12.7273 ZNF532 0 genome.wustl.edu 37 18 56620892 56620892 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 56620892 56620892 A G SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.3011 p.E1004G 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 100 0 0 73 10 12.0482 GRP 0 genome.wustl.edu 37 18 56892961 56892961 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 56892961 56892961 G A SNP GRP ENST00000256857 human ensembl 74_37 +1 known missense c.377 p.G126D 0.000 NULL pfam_Bombesin - no_errors GRP HGNC ENSG00000134443 134 0 0 115 7 5.7377 LMAN1 0 genome.wustl.edu 37 18 57006142 57006142 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 57006142 57006142 T C SNP LMAN1 ENST00000251047 human ensembl 74_37 -1 known silent c.999 p.Q333 0.924 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 110 0 0 98 8 7.54717 MC4R 0 genome.wustl.edu 37 18 58038610 58038610 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 58038610 58038610 G T SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.973 p.L325I 0.194 prints_Mcort_rcpt_4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 144 0 0 116 9 7.2 CETN1 0 genome.wustl.edu 37 18 580531 580531 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 580531 580531 C T SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known silent c.123 p.D41 0.996 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 39 0 0 28 4 12.5 CDH20 0 genome.wustl.edu 37 18 59157790 59157790 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 59157790 59157790 T C SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.4 p.W2R 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 163 0 0 112 11 8.94309 CDH20 0 genome.wustl.edu 37 18 59195450 59195450 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 59195450 59195450 T A SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.1268 p.I423N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 236 0 0 166 38 18.6275 RNF152 0 genome.wustl.edu 37 18 59483549 59483549 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 59483549 59483549 G A SNP RNF152 ENST00000312828 human ensembl 74_37 -1 known missense c.148 p.R50W 0.975 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF152 HGNC ENSG00000176641 51 0 0 44 8 15.3846 L3MBTL4 0 genome.wustl.edu 37 18 5969507 5969507 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 5969507 5969507 G A SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.1526 p.T509M 0.026 NULL pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 59 0 0 64 5 7.24638 ZCCHC2 0 genome.wustl.edu 37 18 60242648 60242648 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 60242648 60242648 C T SNP ZCCHC2 ENST00000269499 human ensembl 74_37 +1 known missense c.3334 p.P1112S 0.970 superfamily_Znf_CCHC pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 39 0 0 49 7 12.5 PHLPP1 0 genome.wustl.edu 37 18 60562361 60562361 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 60562361 60562361 A G SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.2184 p.S728 0.003 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 46 0 0 46 4 8 PHLPP1 0 genome.wustl.edu 37 18 60609078 60609078 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 60609078 60609078 C T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.3088 p.P1030S 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 88 0 0 76 4 5 KDSR 0 genome.wustl.edu 37 18 61022445 61022445 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 61022445 61022445 T A SNP KDSR ENST00000406396 human ensembl 74_37 -1 known missense c.409 p.T137S 0.062 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors KDSR HGNC ENSG00000119537 116 0 0 83 10 10.7527 SERPINB13 0 genome.wustl.edu 37 18 61261619 61261619 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 61261619 61261619 C T SNP SERPINB13 ENST00000344731 human ensembl 74_37 +1 known missense c.503 p.S168F 0.008 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC ENSG00000197641 67 0 0 55 6 9.83607 SERPINB7 0 genome.wustl.edu 37 18 61449733 61449733 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 61449733 61449733 C T SNP SERPINB7 ENST00000336429 human ensembl 74_37 +1 known missense c.127 p.R43C 0.987 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 122 0 0 87 14 13.8614 SERPINB2 0 genome.wustl.edu 37 18 61562597 61562597 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 61562597 61562597 T C SNP SERPINB2 ENST00000299502 human ensembl 74_37 +1 known missense c.268 p.Y90H 0.969 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB2 HGNC ENSG00000197632 193 0 0 158 14 8.13953 CDH7 0 genome.wustl.edu 37 18 63547677 63547677 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 63547677 63547677 A G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known silent c.1905 p.K635 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 68 0 0 56 5 8.19672 CDH19 0 genome.wustl.edu 37 18 64212087 64212087 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 64212087 64212087 T C SNP CDH19 ENST00000262150 human ensembl 74_37 -1 known missense c.829 p.T277A 0.028 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC ENSG00000071991 58 0 0 35 4 10.2564 DSEL 0 genome.wustl.edu 37 18 65180565 65180565 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 65180565 65180565 T C SNP DSEL ENST00000310045 human ensembl 74_37 -1 known silent c.1311 p.T437 0.956 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 64 0 0 52 5 8.77193 TYMS 0 genome.wustl.edu 37 18 659673 659673 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 659673 659673 T C SNP TYMS ENST00000323274 human ensembl 74_37 +1 known missense c.238 p.F80L 0.999 pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase pfam_Thymidylate_synthase,superfamily_Thymidate_synth/dCMP_Mease,prints_Thymidylate_synthase,tigrfam_Thymidylate_synthase - no_errors TYMS HGNC ENSG00000176890 200 0 0 133 12 8.27586 TMX3 0 genome.wustl.edu 37 18 66346763 66346763 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 66346763 66346763 T C SNP TMX3 ENST00000299608 human ensembl 74_37 -1 known silent c.1041 p.Q347 1.000 pfam_Calsequestrin pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors TMX3 HGNC ENSG00000166479 80 0 0 45 4 8.16327 RTTN 0 genome.wustl.edu 37 18 67688033 67688033 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67688033 67688033 A G SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.5971 p.S1991P 0.749 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 129 0 0 119 8 6.29921 RTTN 0 genome.wustl.edu 37 18 67692051 67692051 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67692051 67692051 A C SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.5857 p.L1953V 0.001 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 80 0 0 55 5 8.33333 RTTN 0 genome.wustl.edu 37 18 67695984 67695984 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67695984 67695984 A G SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.5799 p.C1933 0.995 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 87 0 0 58 6 9.375 RTTN 0 genome.wustl.edu 37 18 67794748 67794748 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67794748 67794748 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.3373 p.A1125T 0.002 NULL superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 56 0 0 52 10 16.129 RTTN 0 genome.wustl.edu 37 18 67802453 67802453 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67802453 67802453 A C SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.2852 p.L951R 0.990 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 132 0 0 79 7 8.13953 RTTN 0 genome.wustl.edu 37 18 67813010 67813010 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67813010 67813010 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.2319 p.S773 0.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 146 0 0 120 9 6.97674 RTTN 0 genome.wustl.edu 37 18 67816137 67816137 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67816137 67816137 G A SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.2309 p.S770L 0.646 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 107 0 0 82 22 21.1538 RTTN 0 genome.wustl.edu 37 18 67860532 67860532 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67860532 67860532 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known silent c.999 p.A333 0.983 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 60 0 0 38 14 26.9231 SOCS6 0 genome.wustl.edu 37 18 67993122 67993122 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67993122 67993122 T C SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known silent c.1218 p.F406 0.991 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 97 0 0 89 8 8.24742 SOCS6 0 genome.wustl.edu 37 18 67993331 67993331 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67993331 67993331 G A SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known missense c.1427 p.R476Q 1.000 pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 86 0 0 87 9 9.375 LAMA1 0 genome.wustl.edu 37 18 6943249 6943249 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 6943249 6943249 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.8997 p.G2999 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 127 1 0.78125 134 14 9.45946 LAMA1 0 genome.wustl.edu 37 18 6949194 6949194 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 6949194 6949194 A G SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8462 p.V2821A 0.656 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 53 0 0 38 4 9.52381 LAMA1 0 genome.wustl.edu 37 18 7049169 7049169 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 7049169 7049169 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.676 p.L226F 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 147 0 0 118 9 7.08661 TIMM21 0 genome.wustl.edu 37 18 71822396 71822396 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 71822396 71822396 A C SNP TIMM21 ENST00000169551 human ensembl 74_37 +1 known missense c.318 p.R106S 1.000 pfam_Tim21 pfam_Tim21 - no_errors TIMM21 HGNC ENSG00000075336 120 0 0 89 7 7.29167 CNDP2 0 genome.wustl.edu 37 18 72186224 72186224 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 72186224 72186224 T C SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known silent c.1251 p.S417 0.959 pfam_Peptidase_M20,pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 98 0 0 91 14 13.3333 ZNF407 0 genome.wustl.edu 37 18 72353051 72353051 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 72353051 72353051 T C SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.4775 p.M1592T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 191 0 0 148 14 8.64198 ZNF407 0 genome.wustl.edu 37 18 72632493 72632493 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 72632493 72632493 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5273 p.R1758H 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 61 0 0 48 12 20 TSHZ1 0 genome.wustl.edu 37 18 72998127 72998127 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 72998127 72998127 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.765 p.Y255 1.000 smart_Znf_C2H2-like superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 26 0 0 19 3 13.6364 TSHZ1 0 genome.wustl.edu 37 18 72998294 72998294 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 72998294 72998294 A T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known missense c.932 p.Y311F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 73 0 0 51 7 12.069 TSHZ1 0 genome.wustl.edu 37 18 72999306 72999306 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 72999306 72999306 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known silent c.1944 p.G648 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 35 0 0 47 5 9.61538 ZNF516 0 genome.wustl.edu 37 18 74091371 74091371 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 74091371 74091371 G T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.2699 p.A900D 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 59 0 0 71 4 5.33333 ZNF516 0 genome.wustl.edu 37 18 74154214 74154214 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 74154214 74154214 T A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.797 p.H266L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 48 0 0 50 7 12.2807 ZNF236 0 genome.wustl.edu 37 18 74583682 74583682 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 74583682 74583682 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.562 p.R188W 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 107 0 0 96 6 5.88235 ZNF236 0 genome.wustl.edu 37 18 74635026 74635026 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 74635026 74635026 G T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known splice_site c.3552-1 e21-1 1.000 - - - no_errors ZNF236 HGNC ENSG00000130856 49 0 0 33 4 10.8108 MBP 0 genome.wustl.edu 37 18 74729219 74729219 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 74729219 74729219 C T SNP MBP ENST00000355994 human ensembl 74_37 -1 known missense c.145 p.A49T 1.000 NULL pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 60 0 0 46 5 9.80392 ATP9B 0 genome.wustl.edu 37 18 77067105 77067105 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77067105 77067105 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known silent c.1644 p.I548 0.098 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 88 0 0 54 19 26.0274 ATP9B 0 genome.wustl.edu 37 18 77089273 77089273 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77089273 77089273 G T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known nonsense c.1906 p.E636* 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 98 0 0 92 9 8.91089 NFATC1 0 genome.wustl.edu 37 18 77170667 77170667 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77170667 77170667 A G SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.392 p.N131S 0.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 52 0 0 44 4 8.33333 NFATC1 0 genome.wustl.edu 37 18 77208854 77208854 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77208854 77208854 C T SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.1459 p.R487C 0.998 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 57 0 0 58 9 13.4328 CTDP1 0 genome.wustl.edu 37 18 77475101 77475101 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77475101 77475101 C T SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known silent c.1641 p.G547 0.979 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 42 0 0 37 2 5.12821 KCNG2 0 genome.wustl.edu 37 18 77659249 77659249 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77659249 77659249 G T SNP KCNG2 ENST00000316249 human ensembl 74_37 +1 known missense c.834 p.K278N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 18 0 0 26 3 10.3448 ADNP2 0 genome.wustl.edu 37 18 77894427 77894427 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77894427 77894427 A G SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.1131 p.P377 0.018 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 95 0 0 88 33 27.2727 ADNP2 0 genome.wustl.edu 37 18 77894960 77894960 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77894960 77894960 C A SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.1664 p.P555H 0.739 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 98 0 0 94 5 5.05051 ADNP2 0 genome.wustl.edu 37 18 77895701 77895701 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 77895701 77895701 A T SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.2405 p.D802V 0.997 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 133 0 0 126 14 10 PTPRM 0 genome.wustl.edu 37 18 8069784 8069784 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 8069784 8069784 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known silent c.1233 p.H411 0.999 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 40 0 0 24 4 14.2857 PTPRM 0 genome.wustl.edu 37 18 8370924 8370924 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 8370924 8370924 A T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3094 p.I1032L 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 96 0 0 73 5 6.41026 PTPRM 0 genome.wustl.edu 37 18 8376167 8376167 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 8376167 8376167 C T SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.3298 p.P1100S 0.999 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,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 43 0 0 36 9 20 ANKRD12 0 genome.wustl.edu 37 18 9211676 9211676 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 9211676 9211676 T C SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known silent c.546 p.N182 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 84 0 0 50 4 7.40741 RALBP1 0 genome.wustl.edu 37 18 9522203 9522203 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 9522203 9522203 A G SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.749 p.E250G 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 81 0 0 59 7 10.6061 RALBP1 0 genome.wustl.edu 37 18 9530884 9530884 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 9530884 9530884 T A SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.1400 p.V467D 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 70 0 0 35 3 7.89474 RALBP1 0 genome.wustl.edu 37 18 9535901 9535901 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 9535901 9535901 C T SNP RALBP1 ENST00000019317 human ensembl 74_37 +1 known missense c.1934 p.S645L 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors RALBP1 HGNC ENSG00000017797 27 0 0 19 8 29.6296 COL5A3 0 genome.wustl.edu 37 19 10108053 10108053 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 10108053 10108053 A C SNP COL5A3 ENST00000264828 human ensembl 74_37 -1 known silent c.1257 p.G419 0.016 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A3 HGNC ENSG00000080573 35 0 0 18 4 18.1818 DNMT1 0 genome.wustl.edu 37 19 10247916 10247916 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 10247916 10247916 G T SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.4334 p.P1445H 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 16 0 0 15 3 16.6667 DNMT1 0 genome.wustl.edu 37 19 10250789 10250789 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 10250789 10250789 C A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.3739 p.G1247C 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 55 0 0 68 5 6.84932 RAVER1 0 genome.wustl.edu 37 19 10428998 10428998 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 10428998 10428998 G A SNP RAVER1 ENST00000293677 human ensembl 74_37 -1 known silent c.1947 p.G649 0.002 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER1 HGNC ENSG00000161847 16 0 0 15 7 31.8182 KEAP1 0 genome.wustl.edu 37 19 10610576 10610576 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 10610576 10610576 G A SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.134 p.S45F 1.000 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KEAP1 HGNC ENSG00000079999 121 0 0 101 12 10.6195 POLR2E 0 genome.wustl.edu 37 19 1094045 1094045 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1094045 1094045 C T SNP POLR2E ENST00000215587 human ensembl 74_37 -1 known silent c.90 p.Q30 1.000 pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,pirsf_DNA_RNA_pol_RPB5_euk/virus pfam_RNA_pol_subH/Rpb5_C,pfam_RNA_pol_Rpb5_N,superfamily_RNA_pol_Rpb5_N,superfamily_RNA_pol_subH/Rpb5_C,pirsf_DNA_RNA_pol_RPB5_euk/virus - no_errors POLR2E HGNC ENSG00000099817 33 0 0 28 4 12.5 SMARCA4 0 genome.wustl.edu 37 19 11113781 11113781 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 11113781 11113781 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.1889 p.G630D 1.000 pfam_BRK_domain,smart_BRK_domain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 77 0 0 82 9 9.89011 SMARCA4 0 genome.wustl.edu 37 19 11121158 11121158 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 11121158 11121158 T C SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2225 p.V742A 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 104 0 0 99 10 9.17431 SMARCA4 0 genome.wustl.edu 37 19 11135038 11135038 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 11135038 11135038 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3005 p.A1002V 0.982 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 46 0 0 40 9 18.3673 DOCK6 0 genome.wustl.edu 37 19 11311643 11311643 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 11311643 11311643 G A SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.5774 p.P1925L 0.985 pfam_DOCK_C pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 56 0 0 50 7 12.2807 LPPR2 0 genome.wustl.edu 37 19 11473321 11473321 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 11473321 11473321 G A SNP LPPR2 ENST00000591608 human ensembl 74_37 +1 known missense c.721 p.V241M 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DKFZP761J1410 Uniprot_gn ENSG00000105520 50 0 0 44 8 15.3846 ZNF823 0 genome.wustl.edu 37 19 11832634 11832634 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 11832634 11832634 C A SNP ZNF823 ENST00000341191 human ensembl 74_37 -1 known missense c.1715 p.G572V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF823 HGNC ENSG00000197933 98 0 0 73 7 8.75 ZNF441 0 genome.wustl.edu 37 19 11891793 11891793 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 11891793 11891793 C G SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1154 p.T385S 0.999 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 ZNF441 HGNC ENSG00000197044 103 0 0 78 7 8.23529 ZNF700 0 genome.wustl.edu 37 19 12059503 12059503 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12059503 12059503 T C SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.664 p.Y222H 0.146 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 ZNF700 HGNC ENSG00000196757 109 0 0 76 7 8.43373 ZNF700 0 genome.wustl.edu 37 19 12060238 12060238 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12060238 12060238 A G SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1399 p.T467A 0.983 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 ZNF700 HGNC ENSG00000196757 78 0 0 50 6 10.7143 ZNF700 0 genome.wustl.edu 37 19 12060550 12060550 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12060550 12060550 A G SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1711 p.K571E 0.999 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 ZNF700 HGNC ENSG00000196757 101 0 0 74 6 7.5 ZNF700 0 genome.wustl.edu 37 19 12060661 12060661 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12060661 12060661 C T SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known nonsense c.1822 p.R608* 0.002 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 ZNF700 HGNC ENSG00000196757 98 0 0 71 6 7.79221 ZNF763 0 genome.wustl.edu 37 19 12087930 12087930 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12087930 12087930 A C SNP ZNF763 ENST00000538752 human ensembl 74_37 +1 known missense c.141 p.K47N 0.035 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 ZNF763 HGNC ENSG00000197054 170 0 0 157 16 9.24855 ZNF433 0 genome.wustl.edu 37 19 12126679 12126679 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12126679 12126679 T C SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known missense c.1003 p.K335E 1.000 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 ZNF433 HGNC ENSG00000197647 57 0 0 47 8 14.5455 ZNF433 0 genome.wustl.edu 37 19 12129088 12129088 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12129088 12129088 T C SNP ZNF433 ENST00000344980 human ensembl 74_37 -1 known missense c.32 p.D11G 0.995 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF433 HGNC ENSG00000197647 92 0 0 69 9 11.5385 ZNF20 0 genome.wustl.edu 37 19 12244607 12244607 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12244607 12244607 A T SNP ZNF20 ENST00000334213 human ensembl 74_37 -1 known missense c.394 p.S132T 0.002 pfscan_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 ZNF20 HGNC ENSG00000132010 361 0 0 290 22 7.05128 C19orf26 0 genome.wustl.edu 37 19 1231118 1231118 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1231118 1231118 G A SNP C19orf26 ENST00000382477 human ensembl 74_37 -1 known missense c.1196 p.P399L 1.000 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 37 0 0 36 7 16.2791 ZNF563 0 genome.wustl.edu 37 19 12430623 12430623 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12430623 12430623 A G SNP ZNF563 ENST00000293725 human ensembl 74_37 -1 known silent c.216 p.S72 0.663 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF563 HGNC ENSG00000188868 140 0 0 102 7 6.42202 ZNF442 0 genome.wustl.edu 37 19 12461945 12461945 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12461945 12461945 G A SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known missense c.454 p.P152S 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 160 0 0 116 15 11.4504 ZNF799 0 genome.wustl.edu 37 19 12502889 12502889 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12502889 12502889 C T SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.323 p.S108N 0.152 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF799 HGNC ENSG00000196466 99 0 0 103 8 7.20721 ZNF490 0 genome.wustl.edu 37 19 12692186 12692186 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12692186 12692186 A C SNP ZNF490 ENST00000311437 human ensembl 74_37 -1 known missense c.703 p.F235V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF490 HGNC ENSG00000188033 70 0 0 70 4 5.40541 C19orf24 0 genome.wustl.edu 37 19 1278978 1278978 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1278978 1278978 C T SNP C19orf24 ENST00000469144 human ensembl 74_37 +1 putative missense c.169 p.P57S 0.002 NULL NULL - no_errors C19orf24 HGNC ENSG00000228300 77 0 0 71 4 5.33333 ASNA1 0 genome.wustl.edu 37 19 12856292 12856292 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12856292 12856292 C T SNP ASNA1 ENST00000357332 human ensembl 74_37 +1 known silent c.411 p.S137 1.000 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 pfam_Anion-transp_ATPase-like_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,tigrfam_ATPase_ArsA/GET3 - no_errors ASNA1 HGNC ENSG00000198356 71 0 0 69 6 8 RNASEH2A 0 genome.wustl.edu 37 19 12918104 12918104 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12918104 12918104 T C SNP RNASEH2A ENST00000221486 human ensembl 74_37 +1 known missense c.284 p.V95A 0.997 pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 190 0 0 176 16 8.33333 MAST1 0 genome.wustl.edu 37 19 12984255 12984255 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12984255 12984255 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known silent c.3381 p.S1127 0.930 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST1 HGNC ENSG00000105613 48 0 0 37 16 30.1887 GCDH 0 genome.wustl.edu 37 19 13006890 13006890 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 13006890 13006890 A G SNP GCDH ENST00000222214 human ensembl 74_37 +1 known missense c.590 p.Y197C 1.000 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors GCDH HGNC ENSG00000105607 75 0 0 96 7 6.79612 TRMT1 0 genome.wustl.edu 37 19 13226211 13226211 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 13226211 13226211 G A SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known missense c.523 p.P175S 1.000 pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 47 0 0 43 5 10.4167 STX10 0 genome.wustl.edu 37 19 13255675 13255675 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 13255675 13255675 C T SNP STX10 ENST00000587230 human ensembl 74_37 -1 known missense c.481 p.D161N 1.000 smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX10 HGNC ENSG00000104915 27 0 0 15 3 16.6667 STX10 0 genome.wustl.edu 37 19 13256151 13256151 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 13256151 13256151 G A SNP STX10 ENST00000587230 human ensembl 74_37 -1 known missense c.422 p.A141V 0.006 NULL pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX10 HGNC ENSG00000104915 43 0 0 38 5 11.6279 MUM1 0 genome.wustl.edu 37 19 1360474 1360474 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1360474 1360474 A C SNP MUM1 ENST00000344663 human ensembl 74_37 +1 known missense c.557 p.N186T 0.000 NULL pfam_PWWP_dom - no_errors MUM1 HGNC ENSG00000160953 46 0 0 36 2 5.26316 CC2D1A 0 genome.wustl.edu 37 19 14031712 14031712 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14031712 14031712 G T SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.1618 p.G540W 1.000 smart_DM14 pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 72 0 0 65 4 5.7971 CC2D1A 0 genome.wustl.edu 37 19 14040966 14040966 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14040966 14040966 G T SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.2786 p.R929M 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 83 0 0 64 7 9.85915 PODNL1 0 genome.wustl.edu 37 19 14043557 14043557 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14043557 14043557 G A SNP PODNL1 ENST00000339560 human ensembl 74_37 -1 known silent c.1500 p.C500 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors PODNL1 HGNC ENSG00000132000 106 0 0 96 11 10.2804 PRKACA 0 genome.wustl.edu 37 19 14208462 14208462 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14208462 14208462 G A SNP PRKACA ENST00000308677 human ensembl 74_37 -1 known missense c.571 p.R191C 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,smart_AGC-kinase_C,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKACA HGNC ENSG00000072062 60 0 0 58 12 17.1429 LPHN1 0 genome.wustl.edu 37 19 14266323 14266323 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14266323 14266323 C T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.3157 p.A1053T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 52 0 0 55 6 9.83607 LPHN1 0 genome.wustl.edu 37 19 14273431 14273431 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14273431 14273431 G A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.1197 p.P399 0.972 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 120 0 0 82 23 21.9048 LPHN1 0 genome.wustl.edu 37 19 14273951 14273951 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14273951 14273951 T A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.677 p.N226I 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like,prints_GPCR_2_latrophilin pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 64 0 0 56 3 5.08475 LPHN1 0 genome.wustl.edu 37 19 14288424 14288424 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14288424 14288424 T A SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.203 p.D68V 1.000 pfam_Lectin_gal-bd_dom,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 121 0 0 104 10 8.77193 CD97 0 genome.wustl.edu 37 19 14517536 14517536 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14517536 14517536 C T SNP CD97 ENST00000242786 human ensembl 74_37 +1 known silent c.2073 p.G691 0.977 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 173 0 0 194 22 10.1852 PKN1 0 genome.wustl.edu 37 19 14554388 14554388 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14554388 14554388 G A SNP PKN1 ENST00000342216 human ensembl 74_37 +1 known silent c.447 p.Q149 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 41 0 0 47 4 7.84314 APC2 0 genome.wustl.edu 37 19 1462161 1462161 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1462161 1462161 C T SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.1838 p.T613I 1.000 superfamily_ARM-type_fold pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 9 0 0 7 4 36.3636 EMR2 0 genome.wustl.edu 37 19 14877148 14877148 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 14877148 14877148 G T SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known missense c.533 p.T178N 0.961 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 113 0 0 114 28 19.7183 CCDC105 0 genome.wustl.edu 37 19 15133853 15133853 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15133853 15133853 C T SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known silent c.1422 p.Y474 0.907 NULL pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 36 0 0 18 3 14.2857 SYDE1 0 genome.wustl.edu 37 19 15224405 15224405 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15224405 15224405 G A SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known silent c.1839 p.A613 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 193 0 0 153 28 15.4696 NOTCH3 0 genome.wustl.edu 37 19 15281259 15281259 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15281259 15281259 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.4997 p.R1666Q 0.994 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 33 0 0 38 3 7.31707 NOTCH3 0 genome.wustl.edu 37 19 15298066 15298066 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15298066 15298066 C T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.1690 p.A564T 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 48 0 0 40 12 23.0769 EPHX3 0 genome.wustl.edu 37 19 15342831 15342831 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15342831 15342831 G A SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known silent c.192 p.P64 0.087 NULL pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 19 0 0 11 7 38.8889 BRD4 0 genome.wustl.edu 37 19 15366170 15366170 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15366170 15366170 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.1985 p.S662F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 66 0 0 57 5 8.06452 AKAP8L 0 genome.wustl.edu 37 19 15512058 15512058 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15512058 15512058 C T SNP AKAP8L ENST00000397410 human ensembl 74_37 -1 known missense c.719 p.G240D 0.994 NULL pfam_AKAP95 - no_errors AKAP8L HGNC ENSG00000011243 203 1 0.490196 217 16 6.86695 WIZ 0 genome.wustl.edu 37 19 15535436 15535436 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15535436 15535436 G C SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.4588 p.Q1530E 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 24 0 0 16 3 15.7895 RASAL3 0 genome.wustl.edu 37 19 15562668 15562668 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15562668 15562668 G A SNP RASAL3 ENST00000343625 human ensembl 74_37 -1 known missense c.2974 p.R992W 0.000 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 75 0 0 59 12 16.9014 RASAL3 0 genome.wustl.edu 37 19 15562916 15562916 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15562916 15562916 G T SNP RASAL3 ENST00000343625 human ensembl 74_37 -1 known missense c.2832 p.S944R 0.006 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 100 0 0 86 21 19.6262 RASAL3 0 genome.wustl.edu 37 19 15566970 15566970 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15566970 15566970 C T SNP RASAL3 ENST00000343625 human ensembl 74_37 -1 known missense c.1666 p.A556T 0.871 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 73 0 0 44 17 27.8689 PGLYRP2 0 genome.wustl.edu 37 19 15587373 15587373 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15587373 15587373 C T SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known silent c.108 p.E36 0.000 NULL pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 26 0 0 23 4 14.8148 MBD3 0 genome.wustl.edu 37 19 1578436 1578436 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1578436 1578436 G A SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.779 p.A260V 0.971 superfamily_ARM-type_fold pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 40 0 0 50 3 5.66038 MBD3 0 genome.wustl.edu 37 19 1585094 1585094 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1585094 1585094 C T SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.230 p.S77N 1.000 superfamily_DNA-bd_dom pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 32 0 0 29 5 14.7059 OR10H3 0 genome.wustl.edu 37 19 15852497 15852497 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 15852497 15852497 G A SNP OR10H3 ENST00000305892 human ensembl 74_37 +1 known missense c.295 p.A99T 0.018 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 OR10H3 HGNC ENSG00000171936 301 1 0.331126 262 29 9.96564 MED26 0 genome.wustl.edu 37 19 16686957 16686957 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 16686957 16686957 C T SNP MED26 ENST00000263390 human ensembl 74_37 -1 known missense c.1684 p.G562R 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 72 0 0 70 7 9.09091 TMEM38A 0 genome.wustl.edu 37 19 16790815 16790815 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 16790815 16790815 C T SNP TMEM38A ENST00000187762 human ensembl 74_37 +1 known missense c.145 p.R49C 0.998 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 26 0 0 24 9 27.2727 NWD1 0 genome.wustl.edu 37 19 16910714 16910714 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 16910714 16910714 A T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3477 p.E1159D 0.210 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 67 0 0 80 6 6.97674 NWD1 0 genome.wustl.edu 37 19 16910875 16910875 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 16910875 16910875 A G SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.3638 p.D1213G 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 55 0 0 58 5 7.93651 SIN3B 0 genome.wustl.edu 37 19 16982177 16982177 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 16982177 16982177 A G SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.2656 p.M886V 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 49 0 0 46 3 6.12245 SIN3B 0 genome.wustl.edu 37 19 16989146 16989146 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 16989146 16989146 T C SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.3203 p.I1068T 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 27 0 0 23 3 11.5385 CPAMD8 0 genome.wustl.edu 37 19 17007077 17007077 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17007077 17007077 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.5477 p.P1826L 0.001 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 33 0 0 32 7 17.9487 CPAMD8 0 genome.wustl.edu 37 19 17088263 17088263 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17088263 17088263 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1814 p.R605H 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 75 0 0 71 10 12.3457 GTPBP3 0 genome.wustl.edu 37 19 17449437 17449437 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17449437 17449437 G T SNP GTPBP3 ENST00000358792 human ensembl 74_37 +1 known missense c.478 p.G160W 1.000 superfamily_P-loop_NTPase pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 69 0 0 61 4 6.15385 PLVAP 0 genome.wustl.edu 37 19 17487970 17487970 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17487970 17487970 A G SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known missense c.128 p.L43P 0.994 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 52 0 0 62 6 8.82353 COLGALT1 0 genome.wustl.edu 37 19 17679355 17679355 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17679355 17679355 G A SNP COLGALT1 ENST00000252599 human ensembl 74_37 +1 known missense c.662 p.R221H 1.000 NULL pfam_Glyco_trans_25 - no_errors COLGALT1 HGNC ENSG00000130309 62 0 0 55 4 6.77966 UNC13A 0 genome.wustl.edu 37 19 17743650 17743650 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17743650 17743650 G T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.3633 p.L1211 0.783 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 76 0 0 82 5 5.74713 UNC13A 0 genome.wustl.edu 37 19 17759367 17759367 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17759367 17759367 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known silent c.1953 p.T651 0.611 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 50 0 0 53 6 10.1695 UNC13A 0 genome.wustl.edu 37 19 17774358 17774358 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17774358 17774358 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.806 p.G269D 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 25 0 0 19 4 17.3913 UNC13A 0 genome.wustl.edu 37 19 17780379 17780379 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17780379 17780379 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.641 p.R214H 1.000 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 31 0 0 22 15 40.5405 MAP1S 0 genome.wustl.edu 37 19 17845130 17845130 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17845130 17845130 G A SNP MAP1S ENST00000324096 human ensembl 74_37 +1 known missense c.3073 p.A1025T 1.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 37 0 0 22 13 37.1429 JAK3 0 genome.wustl.edu 37 19 17943652 17943652 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17943652 17943652 C T SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.2437 p.D813N 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 85 0 0 89 20 18.3486 SLC5A5 0 genome.wustl.edu 37 19 17988883 17988883 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17988883 17988883 G T SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known missense c.950 p.R317L 0.361 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 SLC5A5 HGNC ENSG00000105641 60 0 0 43 5 10.4167 REXO1 0 genome.wustl.edu 37 19 1827534 1827534 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1827534 1827534 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.1254 p.P418 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 37 0 0 36 6 14.2857 REXO1 0 genome.wustl.edu 37 19 1827735 1827735 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1827735 1827735 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known silent c.1053 p.P351 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 19 0 0 15 4 21.0526 PDE4C 0 genome.wustl.edu 37 19 18329232 18329232 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 18329232 18329232 T C SNP PDE4C ENST00000355502 human ensembl 74_37 -1 known missense c.1142 p.Y381C 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4C HGNC ENSG00000105650 119 0 0 141 12 7.84314 ISYNA1 0 genome.wustl.edu 37 19 18547813 18547813 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 18547813 18547813 T G SNP ISYNA1 ENST00000338128 human ensembl 74_37 -1 known missense c.385 p.M129L 1.000 pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 28 0 0 35 3 7.89474 CRLF1 0 genome.wustl.edu 37 19 18707568 18707568 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 18707568 18707568 G T SNP CRLF1 ENST00000392386 human ensembl 74_37 -1 known nonsense c.888 p.C296* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Growth/epo_recpt_lig-bind,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF1 HGNC ENSG00000006016 33 0 0 35 5 12.5 CRTC1 0 genome.wustl.edu 37 19 18876229 18876229 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 18876229 18876229 G A SNP CRTC1 ENST00000338797 human ensembl 74_37 +1 known missense c.950 p.G317D 0.711 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 164 0 0 165 21 11.2903 UPF1 0 genome.wustl.edu 37 19 18965708 18965708 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 18965708 18965708 C T SNP UPF1 ENST00000599848 human ensembl 74_37 +1 known missense c.1319 p.T440M 0.997 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase - no_errors UPF1 HGNC ENSG00000005007 32 0 0 32 7 17.9487 GDF1 0 genome.wustl.edu 37 19 18981026 18981026 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 18981026 18981026 C T SNP GDF1 ENST00000247005 human ensembl 74_37 -1 known missense c.91 p.V31M 0.003 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF1 HGNC ENSG00000130283 11 0 0 7 3 30 HOMER3 0 genome.wustl.edu 37 19 19040352 19040352 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19040352 19040352 C T SNP HOMER3 ENST00000392351 human ensembl 74_37 -1 known missense c.986 p.R329Q 0.005 NULL pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors HOMER3 HGNC ENSG00000051128 8 0 0 4 5 55.5556 SUGP2 0 genome.wustl.edu 37 19 19120711 19120711 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19120711 19120711 T C SNP SUGP2 ENST00000337018 human ensembl 74_37 -1 known missense c.2291 p.D764G 0.009 superfamily_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC ENSG00000064607 118 0 0 127 9 6.61765 RFXANK 0 genome.wustl.edu 37 19 19308333 19308333 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19308333 19308333 A G SNP RFXANK ENST00000303088 human ensembl 74_37 +1 known missense c.341 p.D114G 0.983 superfamily_Ankyrin_rpt-contain_dom,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_DNA-bd_RFXANK,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors RFXANK HGNC ENSG00000064490 33 0 0 34 5 12.8205 HAPLN4 0 genome.wustl.edu 37 19 19371751 19371751 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19371751 19371751 G A SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known nonsense c.355 p.Q119* 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 51 0 0 46 15 24.5902 HAPLN4 0 genome.wustl.edu 37 19 19371882 19371882 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19371882 19371882 G A SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known missense c.224 p.A75V 0.068 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 39 0 0 30 6 16.6667 CILP2 0 genome.wustl.edu 37 19 19655293 19655293 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19655293 19655293 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.1939 p.L647F 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 54 0 0 55 5 8.33333 GMIP 0 genome.wustl.edu 37 19 19745618 19745618 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19745618 19745618 T C SNP GMIP ENST00000203556 human ensembl 74_37 -1 known missense c.1870 p.K624E 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 82 0 0 67 19 22.093 ATP13A1 0 genome.wustl.edu 37 19 19758026 19758026 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19758026 19758026 T C SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.3017 p.Y1006C 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 87 0 0 91 11 10.7843 ATP13A1 0 genome.wustl.edu 37 19 19766929 19766929 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19766929 19766929 C T SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known missense c.1147 p.V383I 0.977 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 73 0 0 41 22 34.9206 ZNF253 0 genome.wustl.edu 37 19 20003500 20003500 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 20003500 20003500 G A SNP ZNF253 ENST00000589717 human ensembl 74_37 +1 known missense c.1444 p.V482M 0.361 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF253 HGNC ENSG00000256771 102 0 0 59 6 9.23077 ZNF682 0 genome.wustl.edu 37 19 20117228 20117228 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 20117228 20117228 T C SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known silent c.1083 p.V361 0.976 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 ZNF682 HGNC ENSG00000197124 74 0 0 55 6 9.83607 ZNF682 0 genome.wustl.edu 37 19 20117540 20117540 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 20117540 20117540 G A SNP ZNF682 ENST00000397165 human ensembl 74_37 -1 known silent c.771 p.Y257 0.737 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 ZNF682 HGNC ENSG00000197124 76 0 0 63 6 8.69565 ZNF66 0 genome.wustl.edu 37 19 20975374 20975374 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 20975374 20975374 C T SNP ZNF66 ENST00000344519 human ensembl 74_37 +1 known silent c.60 p.C20 0.071 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF66 HGNC ENSG00000160229 114 0 0 61 4 6.15385 AP3D1 0 genome.wustl.edu 37 19 2102260 2102260 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2102260 2102260 T C SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.3560 p.N1187S 0.968 pfam_BLV_receptor pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 132 0 0 125 8 6.01504 ZNF85 0 genome.wustl.edu 37 19 21131805 21131805 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21131805 21131805 A G SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.485 p.N162S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 121 0 0 76 8 9.52381 ZNF430 0 genome.wustl.edu 37 19 21240721 21240721 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21240721 21240721 C G SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known missense c.1607 p.T536S 1.000 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 ZNF430 HGNC ENSG00000118620 33 0 0 34 3 8.10811 AP3D1 0 genome.wustl.edu 37 19 2129320 2129320 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2129320 2129320 C T SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known silent c.729 p.K243 0.972 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 36 0 0 38 4 9.52381 AP3D1 0 genome.wustl.edu 37 19 2129360 2129360 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2129360 2129360 G A SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.689 p.T230M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 50 0 0 52 5 8.77193 ZNF714 0 genome.wustl.edu 37 19 21300886 21300886 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21300886 21300886 A G SNP ZNF714 ENST00000596143 human ensembl 74_37 +1 known missense c.1416 p.I472M 0.937 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 42 0 0 30 3 9.09091 ZNF708 0 genome.wustl.edu 37 19 21477270 21477270 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21477270 21477270 A T SNP ZNF708 ENST00000356929 human ensembl 74_37 -1 known missense c.498 p.N166K 0.028 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 ZNF708 HGNC ENSG00000182141 71 0 0 52 7 11.8644 ZNF493 0 genome.wustl.edu 37 19 21607090 21607090 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21607090 21607090 A C SNP ZNF493 ENST00000355504 human ensembl 74_37 +1 known missense c.1245 p.K415N 0.929 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 50 0 0 28 4 12.5 ZNF429 0 genome.wustl.edu 37 19 21720176 21720176 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21720176 21720176 A G SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel missense c.1321 p.T441A 0.003 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 ZNF429 HGNC ENSG00000197013 38 0 0 26 5 16.129 ZNF100 0 genome.wustl.edu 37 19 21909534 21909534 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21909534 21909534 C A SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.1580 p.S527I 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF100 HGNC ENSG00000197020 76 0 0 55 6 9.83607 ZNF100 0 genome.wustl.edu 37 19 21910359 21910359 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21910359 21910359 C T SNP ZNF100 ENST00000358296 human ensembl 74_37 -1 known missense c.755 p.R252K 0.163 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 ZNF100 HGNC ENSG00000197020 70 0 0 44 7 13.7255 ZNF43 0 genome.wustl.edu 37 19 21991813 21991813 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21991813 21991813 G A SNP ZNF43 ENST00000354959 human ensembl 74_37 -1 known silent c.1026 p.Y342 0.001 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 ENSG00000198521 70 0 0 57 4 6.55738 ZNF676 0 genome.wustl.edu 37 19 22364184 22364184 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 22364184 22364184 A G SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.335 p.V112A 0.072 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 163 1 0.609756 115 13 10.1562 ZNF99 0 genome.wustl.edu 37 19 22941684 22941684 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 22941684 22941684 A G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.754 p.C252R 0.887 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 ZNF99 HGNC ENSG00000213973 81 0 0 51 6 10.5263 ZNF730 0 genome.wustl.edu 37 19 23316907 23316907 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 23316907 23316907 C T SNP ZNF730 ENST00000597761 human ensembl 74_37 +1 known missense c.29 p.A10V 0.095 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF730 HGNC ENSG00000183850 75 0 0 39 10 20.4082 LMNB2 0 genome.wustl.edu 37 19 2435063 2435063 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2435063 2435063 C T SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.791 p.R264Q 0.996 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 58 0 0 52 8 13.3333 GNG7 0 genome.wustl.edu 37 19 2515092 2515092 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2515092 2515092 G T SNP GNG7 ENST00000382159 human ensembl 74_37 -1 known missense c.135 p.N45K 0.983 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG7 HGNC ENSG00000176533 110 0 0 93 9 8.82353 THOP1 0 genome.wustl.edu 37 19 2807736 2807736 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2807736 2807736 C T SNP THOP1 ENST00000307741 human ensembl 74_37 +1 known missense c.1183 p.R395W 0.001 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors THOP1 HGNC ENSG00000172009 24 0 0 21 5 19.2308 TLE2 0 genome.wustl.edu 37 19 3005923 3005923 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3005923 3005923 C T SNP TLE2 ENST00000262953 human ensembl 74_37 -1 known missense c.1544 p.G515D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Groucho_enhance,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TLE2 HGNC ENSG00000065717 66 0 0 70 7 9.09091 CCNE1 0 genome.wustl.edu 37 19 30308410 30308410 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 30308410 30308410 C T SNP CCNE1 ENST00000262643 human ensembl 74_37 +1 known missense c.424 p.P142S 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNE1 HGNC ENSG00000105173 207 0 0 167 16 8.74317 URI1 0 genome.wustl.edu 37 19 30503413 30503413 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 30503413 30503413 T G SNP URI1 ENST00000542441 human ensembl 74_37 +1 known missense c.1400 p.L467R 0.020 NULL pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin - no_errors URI1 HGNC ENSG00000105176 121 0 0 86 5 5.49451 ZNF536 0 genome.wustl.edu 37 19 31039501 31039501 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 31039501 31039501 T C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2975 p.V992A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 104 0 0 74 16 17.7778 GNA15 0 genome.wustl.edu 37 19 3150136 3150136 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3150136 3150136 C T SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known missense c.338 p.A113V 0.982 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 52 0 0 49 7 12.5 GNA15 0 genome.wustl.edu 37 19 3155864 3155864 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3155864 3155864 A T SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known missense c.658 p.I220F 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 65 0 0 31 4 11.4286 TSHZ3 0 genome.wustl.edu 37 19 31769837 31769837 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 31769837 31769837 G A SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known nonsense c.862 p.Q288* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 132 0 0 126 8 5.97015 TSHZ3 0 genome.wustl.edu 37 19 31769888 31769888 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 31769888 31769888 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.811 p.A271T 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 162 0 0 153 23 13.0682 S1PR4 0 genome.wustl.edu 37 19 3179649 3179649 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3179649 3179649 C T SNP S1PR4 ENST00000246115 human ensembl 74_37 +1 known missense c.859 p.R287W 0.956 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG6_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR4 HGNC ENSG00000125910 116 0 0 92 21 18.5841 CELF5 0 genome.wustl.edu 37 19 3281228 3281228 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3281228 3281228 C T SNP CELF5 ENST00000292672 human ensembl 74_37 +1 known missense c.635 p.A212V 0.995 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF5 HGNC ENSG00000161082 83 0 0 101 6 5.60748 ZNF507 0 genome.wustl.edu 37 19 32844939 32844939 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 32844939 32844939 A G SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known silent c.1203 p.R401 0.911 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 58 0 0 55 3 5.17241 ANKRD27 0 genome.wustl.edu 37 19 33117683 33117683 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 33117683 33117683 C T SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.1471 p.A491T 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 17 0 0 18 3 14.2857 GPATCH1 0 genome.wustl.edu 37 19 33585162 33585162 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 33585162 33585162 C T SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known silent c.540 p.R180 0.975 superfamily_C-type_lectin_fold pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 137 0 0 86 8 8.51064 GPATCH1 0 genome.wustl.edu 37 19 33602641 33602641 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 33602641 33602641 C T SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known missense c.1597 p.R533C 0.011 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 120 0 0 129 7 5.14706 WDR88 0 genome.wustl.edu 37 19 33623191 33623191 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 33623191 33623191 C T SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.116 p.A39V 0.000 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 75 0 0 61 20 24.6914 WDR88 0 genome.wustl.edu 37 19 33666372 33666372 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 33666372 33666372 T C SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.1313 p.V438A 0.975 NULL pfam_WD40_repeat,pfam_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 195 0 0 175 14 7.40741 KCTD15 0 genome.wustl.edu 37 19 34292139 34292139 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 34292139 34292139 T C SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known missense c.134 p.I45T 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 68 0 0 71 7 8.97436 KCTD15 0 genome.wustl.edu 37 19 34302406 34302406 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 34302406 34302406 G A SNP KCTD15 ENST00000430256 human ensembl 74_37 +1 known silent c.642 p.T214 0.996 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD15 HGNC ENSG00000153885 42 0 0 22 4 15.3846 GPI 0 genome.wustl.edu 37 19 34887230 34887230 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 34887230 34887230 T C SNP GPI ENST00000415930 human ensembl 74_37 +1 known missense c.1120 p.Y374H 1.000 pfam_G6P_Isomerase pfam_G6P_Isomerase,prints_G6P_Isomerase - no_errors GPI HGNC ENSG00000105220 81 0 0 95 10 9.52381 UBA2 0 genome.wustl.edu 37 19 34929585 34929585 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 34929585 34929585 G A SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known silent c.495 p.P165 0.979 pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 166 0 0 107 28 20.7407 UBA2 0 genome.wustl.edu 37 19 34935965 34935965 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 34935965 34935965 G A SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.710 p.R237H 1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 107 0 0 52 23 30.6667 MFSD12 0 genome.wustl.edu 37 19 3551131 3551131 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3551131 3551131 C T SNP MFSD12 ENST00000585814 human ensembl 74_37 -1 known missense c.91 p.G31S 0.000 NULL NULL - no_errors MFSD12 HGNC ENSG00000161091 28 0 0 17 3 15 GRAMD1A 0 genome.wustl.edu 37 19 35512908 35512908 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 35512908 35512908 G T SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known missense c.1807 p.G603C 0.989 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 52 0 0 51 10 16.3934 HPN 0 genome.wustl.edu 37 19 35556188 35556188 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 35556188 35556188 C T SNP HPN ENST00000262626 human ensembl 74_37 +1 known silent c.846 p.G282 0.964 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 64 0 0 56 4 6.66667 FAM187B 0 genome.wustl.edu 37 19 35719391 35719391 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 35719391 35719391 T C SNP FAM187B ENST00000324675 human ensembl 74_37 -1 known missense c.193 p.S65G 0.000 NULL NULL - no_errors FAM187B HGNC ENSG00000177558 76 0 0 63 18 22.2222 ATP4A 0 genome.wustl.edu 37 19 36045887 36045887 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36045887 36045887 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.2418 p.T806 0.001 tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 72 0 0 59 11 15.7143 ATP4A 0 genome.wustl.edu 37 19 36046363 36046363 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36046363 36046363 G T SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.2136 p.I712 0.844 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 32 0 0 33 6 15.3846 HAUS5 0 genome.wustl.edu 37 19 36109909 36109909 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36109909 36109909 A G SNP HAUS5 ENST00000203166 human ensembl 74_37 +1 known silent c.1137 p.L379 0.528 NULL NULL - no_errors HAUS5 HGNC ENSG00000249115 42 0 0 36 6 14.2857 RBM42 0 genome.wustl.edu 37 19 36128350 36128350 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36128350 36128350 A T SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.1337 p.Y446F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 49 0 0 49 6 10.9091 UPK1A 0 genome.wustl.edu 37 19 36157788 36157788 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36157788 36157788 T A SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known missense c.74 p.I25N 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 84 0 0 77 8 9.41176 UPK1A 0 genome.wustl.edu 37 19 36159405 36159405 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36159405 36159405 A G SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known missense c.134 p.Q45R 1.000 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 48 0 0 53 3 5.35714 CACTIN 0 genome.wustl.edu 37 19 3620185 3620185 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3620185 3620185 T C SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.620 p.E207G 1.000 pfam_Cactin_dom pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 26 0 0 16 9 36 KMT2B 0 genome.wustl.edu 37 19 36224532 36224532 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36224532 36224532 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.6994 p.R2332C 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 12 0 0 6 3 33.3333 KMT2B 0 genome.wustl.edu 37 19 36229256 36229256 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36229256 36229256 G A SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known missense c.7946 p.R2649H 1.000 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 33 0 0 20 3 13.0435 IGFLR1 0 genome.wustl.edu 37 19 36230664 36230664 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36230664 36230664 A G SNP IGFLR1 ENST00000246532 human ensembl 74_37 -1 known missense c.668 p.L223P 0.000 NULL superfamily_DEATH-like_dom - no_errors IGFLR1 HGNC ENSG00000126246 129 0 0 136 13 8.72483 NFKBID 0 genome.wustl.edu 37 19 36387924 36387924 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36387924 36387924 G A SNP NFKBID ENST00000352614 human ensembl 74_37 -1 known missense c.499 p.P167S 0.828 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 61 0 0 71 4 5.33333 LRFN3 0 genome.wustl.edu 37 19 36430758 36430758 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36430758 36430758 C T SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.431 p.A144V 0.202 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,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 LRFN3 HGNC ENSG00000126243 57 0 0 50 3 5.66038 PIP5K1C 0 genome.wustl.edu 37 19 3656486 3656486 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3656486 3656486 T C SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.538 p.T180A 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 86 0 0 101 7 6.48148 WDR62 0 genome.wustl.edu 37 19 36575648 36575648 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36575648 36575648 T C SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known splice_site c.1642+2 e12+2 1.000 - - - no_errors WDR62 HGNC ENSG00000075702 57 0 0 64 12 15.7895 WDR62 0 genome.wustl.edu 37 19 36593712 36593712 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36593712 36593712 T C SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known silent c.3294 p.S1098 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 40 0 0 40 3 6.97674 POLR2I 0 genome.wustl.edu 37 19 36604659 36604659 + Nonstop_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36604659 36604659 A G SNP POLR2I ENST00000221859 human ensembl 74_37 -1 known nonstop c.376 p.*126R 1.000 NULL pfam_DNA-dir_RNA_pol_M/15kDasu,pfam_Znf_TFIIS,smart_DNA-dir_RNA_pol_M/15kDasu,smart_Znf_TFIIS,pfscan_Znf_TFIIS - no_errors POLR2I HGNC ENSG00000105258 28 0 0 24 5 17.2414 CAPNS1 0 genome.wustl.edu 37 19 36640666 36640666 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36640666 36640666 T C SNP CAPNS1 ENST00000587718 human ensembl 74_37 +1 novel missense c.908 p.L303P 0.029 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 60 0 0 68 7 9.33333 COX7A1 0 genome.wustl.edu 37 19 36642422 36642422 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36642422 36642422 C T SNP COX7A1 ENST00000292907 human ensembl 74_37 -1 known silent c.129 p.L43 1.000 pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a pfam_Cyt_c_oxidase_su7a,superfamily_Cyt_c_oxidase_su7a - no_errors COX7A1 HGNC ENSG00000161281 95 0 0 84 6 6.66667 ZFP82 0 genome.wustl.edu 37 19 36883908 36883908 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36883908 36883908 A T SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.1334 p.I445N 1.000 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 ZFP82 HGNC ENSG00000181007 106 0 0 73 4 5.19481 ZFP82 0 genome.wustl.edu 37 19 36884782 36884782 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36884782 36884782 G T SNP ZFP82 ENST00000392161 human ensembl 74_37 -1 known missense c.460 p.R154S 0.017 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP82 HGNC ENSG00000181007 114 0 0 96 6 5.88235 ZNF566 0 genome.wustl.edu 37 19 36939920 36939920 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36939920 36939920 A G SNP ZNF566 ENST00000392170 human ensembl 74_37 -1 known missense c.1219 p.Y407H 0.010 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF566 HGNC ENSG00000186017 53 0 0 46 3 6.12245 ZNF529 0 genome.wustl.edu 37 19 37037873 37037873 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 37037873 37037873 A G SNP ZNF529 ENST00000591340 human ensembl 74_37 -1 known silent c.1587 p.T529 0.994 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 ZNF529 HGNC ENSG00000186020 92 0 0 58 14 19.4444 ZNF382 0 genome.wustl.edu 37 19 37100894 37100894 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 37100894 37100894 T G SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known silent c.78 p.P26 0.476 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 97 0 0 92 6 6.12245 ZNF382 0 genome.wustl.edu 37 19 37117166 37117166 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 37117166 37117166 C A SNP ZNF382 ENST00000292928 human ensembl 74_37 +1 known missense c.367 p.L123I 0.017 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF382 HGNC ENSG00000161298 106 0 0 69 10 12.6582 TJP3 0 genome.wustl.edu 37 19 3733891 3733891 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3733891 3733891 C T SNP TJP3 ENST00000262968 human ensembl 74_37 +1 known silent c.915 p.S305 0.863 NULL pfam_PDZ,pfam_SH3_2,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 48 0 0 55 6 9.83607 ZNF568 0 genome.wustl.edu 37 19 37441575 37441575 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 37441575 37441575 G A SNP ZNF568 ENST00000333987 human ensembl 74_37 +1 known missense c.1520 p.C507Y 1.000 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 ZNF568 HGNC ENSG00000198453 116 0 0 95 6 5.94059 ZNF569 0 genome.wustl.edu 37 19 37903927 37903927 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 37903927 37903927 T C SNP ZNF569 ENST00000316950 human ensembl 74_37 -1 known missense c.1633 p.T545A 1.000 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 ZNF569 HGNC ENSG00000196437 132 0 0 73 10 12.0482 ZFP30 0 genome.wustl.edu 37 19 38127031 38127031 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38127031 38127031 A G SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known silent c.411 p.P137 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP30 HGNC ENSG00000120784 134 0 0 101 7 6.48148 ZFP30 0 genome.wustl.edu 37 19 38127206 38127206 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38127206 38127206 T A SNP ZFP30 ENST00000351218 human ensembl 74_37 -1 known missense c.236 p.D79V 0.992 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP30 HGNC ENSG00000120784 50 0 0 50 6 10.7143 ZNF607 0 genome.wustl.edu 37 19 38190323 38190323 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38190323 38190323 A G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.709 p.Y237H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 65 0 0 57 4 6.55738 ZNF607 0 genome.wustl.edu 37 19 38190374 38190374 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38190374 38190374 A G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.658 p.Y220H 0.283 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 ZNF607 HGNC ENSG00000198182 101 0 0 85 6 6.59341 ZNF607 0 genome.wustl.edu 37 19 38190740 38190740 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38190740 38190740 G A SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.292 p.H98Y 0.265 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 129 0 0 85 6 6.59341 ZFR2 0 genome.wustl.edu 37 19 3834970 3834970 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3834970 3834970 G A SNP ZFR2 ENST00000262961 human ensembl 74_37 -1 known missense c.65 p.P22L 0.031 NULL pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR2 HGNC ENSG00000105278 18 0 0 18 8 30.7692 SIPA1L3 0 genome.wustl.edu 37 19 38655202 38655202 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38655202 38655202 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known silent c.3864 p.F1288 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 53 0 0 51 3 5.55556 GGN 0 genome.wustl.edu 37 19 38877100 38877100 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38877100 38877100 G A SNP GGN ENST00000334928 human ensembl 74_37 -1 known silent c.802 p.L268 0.565 NULL NULL - no_errors GGN HGNC ENSG00000179168 54 0 0 47 10 17.5439 RASGRP4 0 genome.wustl.edu 37 19 38910772 38910772 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38910772 38910772 G T SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known missense c.508 p.L170I 0.454 superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 41 0 0 39 6 13.3333 RASGRP4 0 genome.wustl.edu 37 19 38912707 38912707 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38912707 38912707 C T SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known missense c.110 p.R37Q 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 35 0 0 31 4 11.4286 RYR1 0 genome.wustl.edu 37 19 38990633 38990633 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38990633 38990633 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.7300 p.G2434R 1.000 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 40 0 0 34 4 10.5263 RYR1 0 genome.wustl.edu 37 19 39028590 39028590 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39028590 39028590 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.11679 p.G3893 0.391 pfam_RIH_assoc-dom 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 82 0 0 67 8 10.6667 ACTN4 0 genome.wustl.edu 37 19 39207920 39207920 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39207920 39207920 G A SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known silent c.1107 p.R369 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 25 0 0 34 5 12.8205 PAPL 0 genome.wustl.edu 37 19 39597717 39597717 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39597717 39597717 A T SNP PAPL ENST00000331256 human ensembl 74_37 +1 known missense c.1244 p.D415V 0.982 NULL pfam_PEstase_dom,superfamily_Purple_acid_Pase-like_N - no_errors PAPL Uniprot_gn ENSG00000183760 41 0 0 36 4 10 PAK4 0 genome.wustl.edu 37 19 39669173 39669173 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39669173 39669173 C T SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.1730 p.P577L 0.999 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 33 0 0 26 8 23.5294 IFNL3 0 genome.wustl.edu 37 19 39734787 39734787 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39734787 39734787 C T SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known missense c.269 p.R90H 0.669 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 37 0 0 44 7 13.7255 IFNL2 0 genome.wustl.edu 37 19 39760407 39760407 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39760407 39760407 G A SNP IFNL2 ENST00000331982 human ensembl 74_37 +1 known silent c.450 p.R150 0.000 NULL NULL - no_errors IFNL2 HGNC ENSG00000183709 56 0 0 55 4 6.77966 EEF2 0 genome.wustl.edu 37 19 3976577 3976577 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3976577 3976577 A G SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known missense c.2552 p.L851P 1.000 superfamily_EFG_III-V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 15 0 0 14 2 12.5 EEF2 0 genome.wustl.edu 37 19 3976711 3976711 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 3976711 3976711 G A SNP EEF2 ENST00000309311 human ensembl 74_37 -1 known silent c.2418 p.G806 1.000 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EEF2 HGNC ENSG00000167658 18 0 0 10 2 16.6667 LRFN1 0 genome.wustl.edu 37 19 39804819 39804819 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39804819 39804819 G A SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known silent c.1158 p.C386 0.874 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 21 0 0 31 4 11.4286 MED29 0 genome.wustl.edu 37 19 39888188 39888188 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39888188 39888188 A C SNP MED29 ENST00000315588 human ensembl 74_37 +1 known missense c.515 p.Q172P 1.000 pfam_Mediator_Med29_met pfam_Mediator_Med29_met - no_errors MED29 HGNC ENSG00000063322 36 0 0 36 5 12.1951 PLEKHG2 0 genome.wustl.edu 37 19 39906037 39906037 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39906037 39906037 G A SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.437 p.G146D 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 53 0 0 49 7 12.5 DLL3 0 genome.wustl.edu 37 19 39995888 39995888 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39995888 39995888 A T SNP DLL3 ENST00000205143 human ensembl 74_37 +1 known missense c.890 p.E297V 1.000 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLL3 HGNC ENSG00000090932 55 0 0 46 6 11.5385 PIAS4 0 genome.wustl.edu 37 19 4013158 4013158 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4013158 4013158 A G SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known missense c.265 p.T89A 0.007 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 77 0 0 78 9 10.3448 LGALS14 0 genome.wustl.edu 37 19 40197239 40197239 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40197239 40197239 A G SNP LGALS14 ENST00000360675 human ensembl 74_37 +1 known silent c.105 p.V35 0.013 superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS14 HGNC ENSG00000006659 199 0 0 210 20 8.69565 CLC 0 genome.wustl.edu 37 19 40225044 40225044 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40225044 40225044 C T SNP CLC ENST00000221804 human ensembl 74_37 -1 known missense c.182 p.R61H 0.000 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 CLC HGNC ENSG00000105205 163 0 0 136 12 8.10811 DYRK1B 0 genome.wustl.edu 37 19 40316660 40316660 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40316660 40316660 G T SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.1585 p.P529T 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 DYRK1B HGNC ENSG00000105204 42 0 0 49 6 10.9091 DYRK1B 0 genome.wustl.edu 37 19 40321416 40321416 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40321416 40321416 G C SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.71 p.P24R 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 DYRK1B HGNC ENSG00000105204 37 0 0 41 3 6.81818 DYRK1B 0 genome.wustl.edu 37 19 40321423 40321423 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40321423 40321423 C T SNP DYRK1B ENST00000323039 human ensembl 74_37 -1 known missense c.64 p.V22I 0.997 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 DYRK1B HGNC ENSG00000105204 37 0 0 38 4 9.52381 FCGBP 0 genome.wustl.edu 37 19 40362933 40362933 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40362933 40362933 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.15137 p.S5046N 0.026 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 83 0 0 82 9 9.89011 FCGBP 0 genome.wustl.edu 37 19 40364395 40364395 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40364395 40364395 A G SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.14247 p.G4749 0.000 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 53 0 0 20 11 35.4839 PSMC4 0 genome.wustl.edu 37 19 40485987 40485987 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40485987 40485987 G A SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known silent c.852 p.E284 0.998 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 58 0 0 47 9 16.0714 ZNF546 0 genome.wustl.edu 37 19 40521505 40521505 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40521505 40521505 C A SNP ZNF546 ENST00000347077 human ensembl 74_37 +1 known silent c.2328 p.P776 0.972 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 ZNF546 HGNC ENSG00000187187 58 0 0 44 4 8.33333 ZNF780A 0 genome.wustl.edu 37 19 40581085 40581085 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40581085 40581085 A G SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known missense c.1267 p.C423R 0.981 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 ZNF780A HGNC ENSG00000197782 237 0 0 203 18 8.1448 PLD3 0 genome.wustl.edu 37 19 40882661 40882661 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40882661 40882661 A G SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known missense c.1165 p.T389A 1.000 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 34 0 0 34 4 10.5263 MAP2K2 0 genome.wustl.edu 37 19 4099374 4099374 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4099374 4099374 C A SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known silent c.744 p.S248 0.606 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 14 0 0 11 4 26.6667 NUMBL 0 genome.wustl.edu 37 19 41183257 41183257 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41183257 41183257 T C SNP NUMBL ENST00000252891 human ensembl 74_37 -1 known missense c.610 p.K204E 1.000 smart_PTB/PI_dom,pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 32 0 0 38 5 11.6279 CYP2A6 0 genome.wustl.edu 37 19 41355868 41355868 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41355868 41355868 G A SNP CYP2A6 ENST00000301141 human ensembl 74_37 -1 known silent c.198 p.G66 0.454 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-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A6 HGNC ENSG00000255974 64 0 0 56 4 6.66667 CYP2B6 0 genome.wustl.edu 37 19 41518216 41518216 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41518216 41518216 G A SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known silent c.978 p.R326 0.952 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 41 0 0 45 4 8.16327 CREB3L3 0 genome.wustl.edu 37 19 4157037 4157037 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4157037 4157037 C A SNP CREB3L3 ENST00000078445 human ensembl 74_37 +1 known missense c.202 p.L68M 0.999 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 53 0 0 53 7 11.6667 CYP2A13 0 genome.wustl.edu 37 19 41594537 41594537 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41594537 41594537 T A SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.161 p.M54K 0.882 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 92 0 0 97 14 12.6126 CYP2S1 0 genome.wustl.edu 37 19 41704403 41704403 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41704403 41704403 C T SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.530 p.A177V 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I 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-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 132 0 0 104 12 10.3448 CCDC97 0 genome.wustl.edu 37 19 41825542 41825542 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41825542 41825542 T A SNP CCDC97 ENST00000269967 human ensembl 74_37 +1 known missense c.566 p.I189N 0.997 pfam_DUF2052_coiled-coil pfam_DUF2052_coiled-coil - no_errors CCDC97 HGNC ENSG00000142039 90 0 0 96 6 5.88235 TMEM91 0 genome.wustl.edu 37 19 41889623 41889623 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41889623 41889623 A G SNP TMEM91 ENST00000392002 human ensembl 74_37 +1 known missense c.364 p.N122D 1.000 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors TMEM91 HGNC ENSG00000142046 89 0 0 72 8 10 B3GNT8 0 genome.wustl.edu 37 19 41931597 41931597 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41931597 41931597 T C SNP B3GNT8 ENST00000321702 human ensembl 74_37 -1 known missense c.1087 p.T363A 0.171 NULL pfam_Glyco_trans_31 - no_errors B3GNT8 HGNC ENSG00000177191 61 0 0 72 8 10 ANKRD24 0 genome.wustl.edu 37 19 4216957 4216957 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4216957 4216957 A G SNP ANKRD24 ENST00000318934 human ensembl 74_37 +1 known silent c.1800 p.K600 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD24 HGNC ENSG00000089847 20 0 0 23 3 11.5385 CEACAM3 0 genome.wustl.edu 37 19 42301727 42301727 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42301727 42301727 C A SNP CEACAM3 ENST00000357396 human ensembl 74_37 +1 known missense c.271 p.P91T 0.000 pfam_Ig_V-set pfam_Ig_V-set - no_errors CEACAM3 HGNC ENSG00000170956 223 1 0.446429 188 12 6 EBI3 0 genome.wustl.edu 37 19 4234673 4234673 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4234673 4234673 A G SNP EBI3 ENST00000221847 human ensembl 74_37 +1 known missense c.389 p.D130G 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EBI3 HGNC ENSG00000105246 125 0 0 125 10 7.40741 CD79A 0 genome.wustl.edu 37 19 42383300 42383300 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42383300 42383300 G A SNP CD79A ENST00000221972 human ensembl 74_37 +1 known missense c.320 p.R107Q 0.000 pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 58 0 0 62 5 7.46269 CD79A 0 genome.wustl.edu 37 19 42383344 42383344 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42383344 42383344 T C SNP CD79A ENST00000221972 human ensembl 74_37 +1 known missense c.364 p.Y122H 1.000 smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Phos_immunorcpt_sig_ITAM,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM,pfscan_Ig-like_dom - no_errors CD79A HGNC ENSG00000105369 34 0 0 33 6 15.3846 ARHGEF1 0 genome.wustl.edu 37 19 42396773 42396773 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42396773 42396773 A G SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.512 p.D171G 1.000 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 53 0 0 52 3 5.45455 GRIK5 0 genome.wustl.edu 37 19 42557982 42557982 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42557982 42557982 G A SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.1156 p.R386C 1.000 superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 38 0 0 40 3 6.97674 ZNF574 0 genome.wustl.edu 37 19 42584439 42584439 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42584439 42584439 A G SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.1951 p.T651A 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 78 0 0 85 6 6.59341 ERF 0 genome.wustl.edu 37 19 42753689 42753689 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42753689 42753689 C T SNP ERF ENST00000222329 human ensembl 74_37 -1 known missense c.575 p.G192D 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 66 0 0 49 18 26.8657 TMEM145 0 genome.wustl.edu 37 19 42827839 42827839 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42827839 42827839 T C SNP TMEM145 ENST00000301204 human ensembl 74_37 +1 known silent c.1299 p.A433 0.001 NULL pfam_Intimal_thickness-rel_rcpt - no_errors TMEM145 HGNC ENSG00000167619 64 0 0 64 5 7.24638 MEGF8 0 genome.wustl.edu 37 19 42861608 42861608 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42861608 42861608 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.4883 p.R1628H 1.000 superfamily_Gal_Oxase/kelch_b-propeller pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 68 0 0 68 21 23.5955 LIPE 0 genome.wustl.edu 37 19 42911548 42911548 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42911548 42911548 G A SNP LIPE ENST00000244289 human ensembl 74_37 -1 known nonsense c.1915 p.Q639* 1.000 pfam_Steryl_acetyl_hydrolase pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 52 0 0 43 10 18.8679 LIPE 0 genome.wustl.edu 37 19 42914696 42914696 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42914696 42914696 C A SNP LIPE ENST00000244289 human ensembl 74_37 -1 known silent c.1182 p.V394 1.000 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 43 0 0 45 3 6.25 CEACAM1 0 genome.wustl.edu 37 19 43015763 43015763 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 43015763 43015763 T C SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known missense c.1394 p.D465G 0.769 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 121 0 0 115 12 9.44882 PSG1 0 genome.wustl.edu 37 19 43382146 43382146 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 43382146 43382146 C T SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.349 p.A117T 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 354 1 0.28169 360 22 5.75916 PSG6 0 genome.wustl.edu 37 19 43420352 43420352 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 43420352 43420352 A T SNP PSG6 ENST00000292125 human ensembl 74_37 -1 known missense c.352 p.S118T 0.001 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG6 HGNC ENSG00000170848 340 0 0 332 37 10.0271 SH3GL1 0 genome.wustl.edu 37 19 4365591 4365591 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4365591 4365591 C A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known silent c.219 p.T73 0.504 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 97 0 0 89 7 7.29167 PSG5 0 genome.wustl.edu 37 19 43683057 43683057 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 43683057 43683057 C T SNP PSG5 ENST00000599812 human ensembl 74_37 -1 novel missense c.683 p.S228N 0.231 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG5 HGNC ENSG00000204941 354 1 0.28169 332 19 5.41311 LYPD3 0 genome.wustl.edu 37 19 43968517 43968517 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 43968517 43968517 G A SNP LYPD3 ENST00000244333 human ensembl 74_37 -1 known silent c.171 p.G57 0.477 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYPD3 HGNC ENSG00000124466 26 0 0 24 9 27.2727 IRGQ 0 genome.wustl.edu 37 19 44096782 44096782 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44096782 44096782 A G SNP IRGQ ENST00000422989 human ensembl 74_37 -1 known missense c.1268 p.V423A 1.000 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 73 0 0 59 5 7.8125 KCNN4 0 genome.wustl.edu 37 19 44278390 44278390 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44278390 44278390 G T SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known missense c.637 p.L213I 0.995 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 23 0 0 25 6 19.3548 ZNF283 0 genome.wustl.edu 37 19 44339699 44339699 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44339699 44339699 C A SNP ZNF283 ENST00000324461 human ensembl 74_37 +1 known silent c.165 p.S55 0.025 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ENSG00000167637 29 0 0 22 7 24.1379 ZNF45 0 genome.wustl.edu 37 19 44418273 44418273 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44418273 44418273 T C SNP ZNF45 ENST00000269973 human ensembl 74_37 -1 known missense c.1315 p.T439A 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF45 HGNC ENSG00000124459 97 0 0 90 9 9.09091 ZNF223 0 genome.wustl.edu 37 19 44564934 44564934 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44564934 44564934 T C SNP ZNF223 ENST00000591793 human ensembl 74_37 +1 known missense c.505 p.F169L 0.000 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 ZNF223 Uniprot_gn ENSG00000267022 295 0 0 234 29 11.0266 ZNF227 0 genome.wustl.edu 37 19 44738911 44738911 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44738911 44738911 T A SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known missense c.328 p.S110T 0.046 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 116 0 0 73 10 12.0482 ZNF227 0 genome.wustl.edu 37 19 44740625 44740625 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44740625 44740625 G A SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known missense c.2042 p.G681D 0.900 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 ZNF227 HGNC ENSG00000131115 85 0 0 73 9 10.9756 ZNF233 0 genome.wustl.edu 37 19 44777661 44777661 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44777661 44777661 A C SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known missense c.848 p.D283A 0.366 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF233 HGNC ENSG00000159915 81 0 0 63 4 5.97015 ZNF233 0 genome.wustl.edu 37 19 44778453 44778453 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44778453 44778453 A G SNP ZNF233 ENST00000391958 human ensembl 74_37 +1 known missense c.1640 p.Q547R 0.000 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 ZNF233 HGNC ENSG00000159915 103 0 0 89 5 5.31915 ZNF285 0 genome.wustl.edu 37 19 44890966 44890966 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44890966 44890966 C A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known nonsense c.1441 p.E481* 1.000 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 ZNF285 HGNC ENSG00000267508 109 0 0 74 25 25.2525 ZNF285 0 genome.wustl.edu 37 19 44892260 44892260 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 44892260 44892260 G A SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known silent c.147 p.D49 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF285 HGNC ENSG00000267508 85 0 0 67 9 11.8421 HDGFRP2 0 genome.wustl.edu 37 19 4491791 4491791 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4491791 4491791 C T SNP HDGFRP2 ENST00000301284 human ensembl 74_37 +1 known missense c.637 p.R213W 0.994 NULL pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom - no_errors HDGFRP2 Uniprot_gn ENSG00000167674 103 0 0 80 22 21.5686 PLIN4 0 genome.wustl.edu 37 19 4504480 4504480 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4504480 4504480 G A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel silent c.4065 p.G1355 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 14 0 0 8 11 57.8947 PLIN4 0 genome.wustl.edu 37 19 4511181 4511181 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4511181 4511181 C T SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2749 p.V917I 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 86 0 0 60 28 31.8182 PLIN4 0 genome.wustl.edu 37 19 4511511 4511511 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4511511 4511511 C A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2419 p.A807S 0.003 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 137 0 0 152 10 6.17284 PLIN4 0 genome.wustl.edu 37 19 4511907 4511907 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4511907 4511907 C A SNP PLIN4 ENST00000301286 human ensembl 74_37 -1 novel missense c.2023 p.A675S 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 189 1 0.526316 214 23 9.70464 CEACAM16 0 genome.wustl.edu 37 19 45209070 45209070 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45209070 45209070 A G SNP CEACAM16 ENST00000405314 human ensembl 74_37 +1 known missense c.872 p.Y291C 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM16 HGNC ENSG00000213892 84 0 0 69 14 16.8675 PVRL2 0 genome.wustl.edu 37 19 45381765 45381765 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45381765 45381765 A G SNP PVRL2 ENST00000252485 human ensembl 74_37 +1 known missense c.1328 p.E443G 0.983 NULL pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 24 0 0 30 5 14.2857 PVRL2 0 genome.wustl.edu 37 19 45391415 45391415 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45391415 45391415 C T SNP PVRL2 ENST00000252483 human ensembl 74_37 +1 known missense c.1396 p.P466S 0.933 NULL pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PVRL2 HGNC ENSG00000130202 71 0 0 67 8 10.6667 APOC2 0 genome.wustl.edu 37 19 45452442 45452442 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45452442 45452442 C A SNP APOC2 ENST00000252490 human ensembl 74_37 +1 known missense c.242 p.A81D 0.040 pfam_Apo-CII pfam_Apo-CII - no_errors APOC2 HGNC ENSG00000234906 47 0 0 41 4 8.88889 CLPTM1 0 genome.wustl.edu 37 19 45477800 45477800 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45477800 45477800 C T SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known silent c.414 p.S138 0.614 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 67 0 0 60 13 17.8082 SEMA6B 0 genome.wustl.edu 37 19 4548328 4548328 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4548328 4548328 C T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.1401 p.G467 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 51 0 0 43 6 12.2449 RELB 0 genome.wustl.edu 37 19 45540714 45540714 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45540714 45540714 G A SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.1406 p.G469D 0.005 NULL 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 118 0 0 123 17 12.1429 CLASRP 0 genome.wustl.edu 37 19 45573341 45573341 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45573341 45573341 C T SNP CLASRP ENST00000221455 human ensembl 74_37 +1 known missense c.1936 p.R646C 1.000 NULL pfam_SWAP_N_domain - no_errors CLASRP HGNC ENSG00000104859 60 0 0 63 8 11.2676 NKPD1 0 genome.wustl.edu 37 19 45656571 45656571 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45656571 45656571 C T SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.1124 p.S375N 0.000 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 11 0 0 6 3 33.3333 ERCC2 0 genome.wustl.edu 37 19 45860791 45860791 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45860791 45860791 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.1318 p.A440T 1.000 superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 47 0 0 43 9 17.3077 ERCC2 0 genome.wustl.edu 37 19 45867315 45867315 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45867315 45867315 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known missense c.878 p.R293Q 1.000 pfam_DUF1227,superfamily_P-loop_NTPase,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 8 0 0 10 3 23.0769 ERCC2 0 genome.wustl.edu 37 19 45873415 45873415 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45873415 45873415 C T SNP ERCC2 ENST00000391945 human ensembl 74_37 -1 known silent c.81 p.E27 1.000 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DUF1227,pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,prints_XPGD_DNA_repair,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors ERCC2 HGNC ENSG00000104884 31 0 0 35 3 7.89474 CD3EAP 0 genome.wustl.edu 37 19 45912637 45912637 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45912637 45912637 C T SNP CD3EAP ENST00000589804 human ensembl 74_37 +1 known missense c.1417 p.R473W 0.000 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 69 0 0 45 12 21.0526 RTN2 0 genome.wustl.edu 37 19 45998181 45998181 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45998181 45998181 C A SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.162 p.Q54H 1.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 44 0 0 48 6 11.1111 GPR4 0 genome.wustl.edu 37 19 46094232 46094232 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46094232 46094232 G A SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known missense c.893 p.A298V 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 72 0 0 67 6 8.21918 EML2 0 genome.wustl.edu 37 19 46136131 46136131 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46136131 46136131 G A SNP EML2 ENST00000586195 human ensembl 74_37 -1 known missense c.218 p.A73V 1.000 NULL NULL - no_errors EML2 HGNC ENSG00000125746 43 0 0 56 9 13.8462 SNRPD2 0 genome.wustl.edu 37 19 46191820 46191820 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46191820 46191820 G T SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known missense c.7 p.L3I 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 142 0 0 120 12 9.09091 FBXO46 0 genome.wustl.edu 37 19 46216103 46216103 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46216103 46216103 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known silent c.651 p.R217 0.885 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 37 0 0 42 5 10.6383 DMWD 0 genome.wustl.edu 37 19 46290090 46290090 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46290090 46290090 G A SNP DMWD ENST00000270223 human ensembl 74_37 -1 known silent c.664 p.L222 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMWD HGNC ENSG00000185800 36 0 0 35 4 10.2564 SYMPK 0 genome.wustl.edu 37 19 46351021 46351021 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46351021 46351021 T C SNP SYMPK ENST00000245934 human ensembl 74_37 -1 known missense c.665 p.Y222C 0.995 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 53 0 0 49 4 7.54717 FOXA3 0 genome.wustl.edu 37 19 46375928 46375928 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46375928 46375928 G A SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known missense c.665 p.G222E 0.921 NULL pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 26 0 0 21 3 12.5 NANOS2 0 genome.wustl.edu 37 19 46417579 46417579 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46417579 46417579 G A SNP NANOS2 ENST00000341294 human ensembl 74_37 -1 known missense c.373 p.R125C 1.000 NULL pfam_Znf_nanos-typ - no_errors NANOS2 HGNC ENSG00000188425 26 0 0 24 4 14.2857 HIF3A 0 genome.wustl.edu 37 19 46807198 46807198 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46807198 46807198 C A SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known missense c.70 p.R24S 0.999 superfamily_bHLH_dom,smart_bHLH_dom pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 12 0 0 13 4 23.5294 HIF3A 0 genome.wustl.edu 37 19 46832527 46832527 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46832527 46832527 C T SNP HIF3A ENST00000377670 human ensembl 74_37 +1 known missense c.1504 p.L502F 1.000 pfam_HIF_alpha_subunit pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 92 0 0 96 15 13.5135 PPP5C 0 genome.wustl.edu 37 19 46878978 46878978 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46878978 46878978 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.481 p.V161M 0.279 pfam_PPP_dom,pirsf_Ser/Thr_PPase_5 pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 14 0 0 14 2 12.5 CCDC8 0 genome.wustl.edu 37 19 46914494 46914494 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46914494 46914494 G A SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.1574 p.A525V 0.996 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 64 0 0 67 5 6.94444 PNMAL2 0 genome.wustl.edu 37 19 46996841 46996841 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 46996841 46996841 G A SNP PNMAL2 ENST00000599531 human ensembl 74_37 -1 known missense c.1882 p.R628W 0.000 NULL NULL - no_errors PNMAL2 HGNC ENSG00000204851 10 0 0 8 3 27.2727 DPP9 0 genome.wustl.edu 37 19 4705902 4705902 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 4705902 4705902 G T SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.394 p.L132M 0.957 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 70 0 0 62 7 10.1449 SLC1A5 0 genome.wustl.edu 37 19 47280550 47280550 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 47280550 47280550 C T SNP SLC1A5 ENST00000542575 human ensembl 74_37 -1 known missense c.1171 p.A391T 1.000 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A5 HGNC ENSG00000105281 43 0 0 33 5 13.1579 AP2S1 0 genome.wustl.edu 37 19 47341797 47341797 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 47341797 47341797 C T SNP AP2S1 ENST00000263270 human ensembl 74_37 -1 known silent c.336 p.T112 0.989 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP2S1 HGNC ENSG00000042753 45 0 0 40 6 13.0435 ARHGAP35 0 genome.wustl.edu 37 19 47424547 47424547 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 47424547 47424547 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.2615 p.A872V 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 181 0 0 132 17 11.4094 BBC3 0 genome.wustl.edu 37 19 47725161 47725161 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 47725161 47725161 C T SNP BBC3 ENST00000449228 human ensembl 74_37 -1 known missense c.583 p.A195T 1.000 NULL NULL - no_errors BBC3 HGNC ENSG00000105327 48 0 0 44 5 10.2041 CCDC9 0 genome.wustl.edu 37 19 47774662 47774662 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 47774662 47774662 T C SNP CCDC9 ENST00000221922 human ensembl 74_37 +1 known silent c.1323 p.G441 0.000 NULL NULL - no_errors CCDC9 HGNC ENSG00000105321 38 0 0 37 2 5.12821 NAPA 0 genome.wustl.edu 37 19 48006736 48006736 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48006736 48006736 G A SNP NAPA ENST00000263354 human ensembl 74_37 -1 known missense c.122 p.A41V 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPA HGNC ENSG00000105402 118 0 0 87 14 13.8614 EHD2 0 genome.wustl.edu 37 19 48239750 48239750 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48239750 48239750 A G SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.1040 p.H347R 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 111 0 0 71 22 23.6559 EHD2 0 genome.wustl.edu 37 19 48244520 48244520 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48244520 48244520 G A SNP EHD2 ENST00000263277 human ensembl 74_37 +1 known missense c.1463 p.R488H 1.000 smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD2 HGNC ENSG00000024422 40 0 0 39 12 23.5294 ENSG00000269656 0 genome.wustl.edu 37 19 48260324 48260324 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48260324 48260324 C T SNP ENSG00000269656 ENST00000602048 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2571L23.6 Clone_based_vega_gene ENSG00000269656 58 0 0 60 8 11.7647 ELSPBP1 0 genome.wustl.edu 37 19 48525436 48525436 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48525436 48525436 C T SNP ELSPBP1 ENST00000339841 human ensembl 74_37 +1 known missense c.524 p.A175V 0.050 superfamily_Kringle-like,smart_FN_type2_col-bd pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors ELSPBP1 HGNC ENSG00000169393 127 0 0 107 9 7.75862 LIG1 0 genome.wustl.edu 37 19 48624533 48624533 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48624533 48624533 A G SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.2279 p.V760A 1.000 superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 34 0 0 49 9 15.5172 SULT2B1 0 genome.wustl.edu 37 19 49100124 49100124 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49100124 49100124 G A SNP SULT2B1 ENST00000201586 human ensembl 74_37 +1 known silent c.774 p.T258 0.401 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT2B1 HGNC ENSG00000088002 19 0 0 22 4 15.3846 SPHK2 0 genome.wustl.edu 37 19 49132184 49132184 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49132184 49132184 C T SNP SPHK2 ENST00000443164 human ensembl 74_37 +1 known silent c.1305 p.R435 0.003 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors SPHK2 HGNC ENSG00000063176 57 0 0 58 8 12.1212 IZUMO1 0 genome.wustl.edu 37 19 49247440 49247440 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49247440 49247440 T C SNP IZUMO1 ENST00000332955 human ensembl 74_37 -1 known missense c.410 p.N137S 1.000 NULL NULL - no_errors IZUMO1 HGNC ENSG00000182264 221 0 0 203 22 9.77778 BCAT2 0 genome.wustl.edu 37 19 49310321 49310321 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49310321 49310321 C T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.35 p.R12Q 0.806 NULL pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 37 0 0 41 4 8.88889 TULP2 0 genome.wustl.edu 37 19 49398379 49398379 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49398379 49398379 C T SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known nonsense c.390 p.W130* 0.000 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 92 0 0 59 16 21.3333 KCNA7 0 genome.wustl.edu 37 19 49573589 49573589 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49573589 49573589 T C SNP KCNA7 ENST00000221444 human ensembl 74_37 -1 known missense c.1102 p.T368A 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom 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 52 0 0 53 4 7.01754 CD37 0 genome.wustl.edu 37 19 49842077 49842077 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49842077 49842077 T A SNP CD37 ENST00000323906 human ensembl 74_37 +1 known missense c.568 p.S190T 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD37 HGNC ENSG00000104894 102 0 0 81 6 6.89655 TEAD2 0 genome.wustl.edu 37 19 49862738 49862738 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49862738 49862738 G A SNP TEAD2 ENST00000311227 human ensembl 74_37 -1 known missense c.251 p.A84V 1.000 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 200 0 0 187 14 6.96517 RCN3 0 genome.wustl.edu 37 19 50042431 50042431 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50042431 50042431 A T SNP RCN3 ENST00000270645 human ensembl 74_37 +1 known missense c.674 p.Y225F 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN3 HGNC ENSG00000142552 61 0 0 57 5 8.06452 PRR12 0 genome.wustl.edu 37 19 50098300 50098300 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50098300 50098300 A G SNP PRR12 ENST00000418929 human ensembl 74_37 +1 novel silent c.708 p.P236 0.977 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 18 0 0 14 6 30 SCAF1 0 genome.wustl.edu 37 19 50154406 50154406 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50154406 50154406 A G SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.760 p.T254A 1.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 54 0 0 55 4 6.77966 CPT1C 0 genome.wustl.edu 37 19 50213650 50213650 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50213650 50213650 C A SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.1640 p.P547Q 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 93 0 0 94 6 6 AP2A1 0 genome.wustl.edu 37 19 50296315 50296315 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50296315 50296315 C T SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.671 p.T224M 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 12 0 0 15 2 11.7647 KDM4B 0 genome.wustl.edu 37 19 5040024 5040024 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 5040024 5040024 T C SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known splice_site c.317+2 e2+2 0.998 - - - no_errors KDM4B HGNC ENSG00000127663 27 0 0 24 5 17.2414 SIGLEC16 0 genome.wustl.edu 37 19 50475331 50475331 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50475331 50475331 C T SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC16 HGNC ENSG00000161643 46 0 0 47 5 9.61538 MYH14 0 genome.wustl.edu 37 19 50747562 50747562 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50747562 50747562 A G SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.1178 p.N393S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,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 MYH14 HGNC ENSG00000105357 30 0 0 38 3 7.31707 NAPSA 0 genome.wustl.edu 37 19 50861982 50861982 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50861982 50861982 G T SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.1091 p.P364H 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 30 0 0 38 4 9.52381 NR1H2 0 genome.wustl.edu 37 19 50881803 50881803 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50881803 50881803 G A SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known missense c.497 p.R166Q 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,prints_ThyrH_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 73 0 0 63 17 21.25 POLD1 0 genome.wustl.edu 37 19 50905974 50905974 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50905974 50905974 G A SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.946 p.D316N 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 30 0 0 29 4 12.1212 LRRC4B 0 genome.wustl.edu 37 19 51022237 51022237 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51022237 51022237 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.733 p.R245C 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 23 0 0 24 5 17.2414 SHANK1 0 genome.wustl.edu 37 19 51189547 51189547 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51189547 51189547 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.2548 p.G850S 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 75 0 0 66 11 14.2857 SHANK1 0 genome.wustl.edu 37 19 51219729 51219729 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51219729 51219729 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.262 p.L88F 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 46 0 0 39 6 13.3333 ACPT 0 genome.wustl.edu 37 19 51297733 51297733 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51297733 51297733 C T SNP ACPT ENST00000270594 human ensembl 74_37 +1 known missense c.602 p.A201V 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 56 0 0 48 16 25 KLK15 0 genome.wustl.edu 37 19 51329891 51329891 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51329891 51329891 C T SNP KLK15 ENST00000598239 human ensembl 74_37 -1 known missense c.604 p.A202T 0.993 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,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK15 HGNC ENSG00000174562 75 0 0 74 7 8.64198 KLK5 0 genome.wustl.edu 37 19 51452276 51452276 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51452276 51452276 C A SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known missense c.431 p.G144V 0.104 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,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK5 HGNC ENSG00000167754 81 0 0 74 5 6.32911 KLK6 0 genome.wustl.edu 37 19 51465041 51465041 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51465041 51465041 A C SNP KLK6 ENST00000310157 human ensembl 74_37 -1 known missense c.541 p.L181V 0.997 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK6 HGNC ENSG00000167755 70 0 0 57 9 13.6364 KLK10 0 genome.wustl.edu 37 19 51518083 51518083 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51518083 51518083 C T SNP KLK10 ENST00000309958 human ensembl 74_37 -1 known nonsense c.804 p.W268* 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,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK10 HGNC ENSG00000129451 119 1 0.833333 97 8 7.61905 CD33 0 genome.wustl.edu 37 19 51728581 51728581 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51728581 51728581 T C SNP CD33 ENST00000262262 human ensembl 74_37 +1 known missense c.145 p.Y49H 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD33 HGNC ENSG00000105383 133 0 0 149 8 5.09554 ETFB 0 genome.wustl.edu 37 19 51857744 51857744 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51857744 51857744 T A SNP ETFB ENST00000354232 human ensembl 74_37 -1 known missense c.149 p.D50V 0.001 NULL pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 94 0 0 82 6 6.81818 NKG7 0 genome.wustl.edu 37 19 51875747 51875747 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 51875747 51875747 C A SNP NKG7 ENST00000221978 human ensembl 74_37 -1 known missense c.43 p.G15C 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors NKG7 HGNC ENSG00000105374 56 0 0 55 4 6.77966 PTPRS 0 genome.wustl.edu 37 19 5221144 5221144 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 5221144 5221144 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.3325 p.G1109S 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 67 0 0 86 6 6.52174 HAS1 0 genome.wustl.edu 37 19 52216730 52216730 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52216730 52216730 C T SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1708 p.V570M 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 12 0 0 15 3 16.6667 HAS1 0 genome.wustl.edu 37 19 52219570 52219570 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52219570 52219570 A C SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1021 p.C341G 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 84 0 0 79 6 7.05882 PTPRS 0 genome.wustl.edu 37 19 5225736 5225736 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 5225736 5225736 A G SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known splice_site c.2497+2 e16+2 0.995 - - - no_errors PTPRS HGNC ENSG00000105426 47 0 0 40 4 9.09091 PTPRS 0 genome.wustl.edu 37 19 5225784 5225784 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 5225784 5225784 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known silent c.2451 p.G817 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 40 0 0 31 3 8.82353 ZNF649 0 genome.wustl.edu 37 19 52399760 52399760 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52399760 52399760 G A SNP ZNF649 ENST00000354957 human ensembl 74_37 -1 known missense c.203 p.T68I 0.004 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF649 HGNC ENSG00000198093 114 0 0 98 8 7.54717 ZNF613 0 genome.wustl.edu 37 19 52448122 52448122 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52448122 52448122 C G SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.986 p.S329C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 74 0 0 60 6 9.09091 ZNF613 0 genome.wustl.edu 37 19 52448840 52448840 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52448840 52448840 T C SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known silent c.1704 p.S568 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 59 0 0 55 6 9.83607 ZNF615 0 genome.wustl.edu 37 19 52496490 52496490 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52496490 52496490 T C SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.1872 p.I624M 0.002 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 ZNF615 HGNC ENSG00000197619 164 0 0 113 7 5.83333 ZNF614 0 genome.wustl.edu 37 19 52520093 52520093 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52520093 52520093 T C SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known missense c.758 p.N253S 0.062 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 108 0 0 93 10 9.70874 ZNF614 0 genome.wustl.edu 37 19 52521298 52521298 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52521298 52521298 C T SNP ZNF614 ENST00000270649 human ensembl 74_37 -1 known nonsense c.201 p.W67* 0.002 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF614 HGNC ENSG00000142556 98 0 0 57 11 16.1765 ZNF616 0 genome.wustl.edu 37 19 52619658 52619658 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52619658 52619658 A T SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.759 p.N253K 0.000 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 ZNF616 HGNC ENSG00000204611 132 0 0 95 10 9.52381 ZNF836 0 genome.wustl.edu 37 19 52658789 52658789 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52658789 52658789 G T SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known missense c.2147 p.P716H 0.962 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 ZNF836 HGNC ENSG00000196267 110 0 0 62 7 10.1449 ZNF836 0 genome.wustl.edu 37 19 52659094 52659094 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52659094 52659094 C T SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known silent c.1842 p.V614 0.124 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 ZNF836 HGNC ENSG00000196267 214 0 0 203 17 7.72727 ZNF836 0 genome.wustl.edu 37 19 52659268 52659268 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52659268 52659268 A G SNP ZNF836 ENST00000322146 human ensembl 74_37 -1 known silent c.1668 p.C556 0.162 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 ZNF836 HGNC ENSG00000196267 310 0 0 240 26 9.77444 ZNF766 0 genome.wustl.edu 37 19 52785388 52785388 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52785388 52785388 G A SNP ZNF766 ENST00000359102 human ensembl 74_37 +1 known missense c.88 p.A30T 0.999 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF766 HGNC ENSG00000196214 277 0 0 180 55 23.4043 ZNF480 0 genome.wustl.edu 37 19 52825414 52825414 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52825414 52825414 G A SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known missense c.911 p.R304Q 0.000 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 ZNF480 HGNC ENSG00000198464 107 0 0 63 10 13.6986 ZNF808 0 genome.wustl.edu 37 19 53057596 53057596 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53057596 53057596 T C SNP ZNF808 ENST00000359798 human ensembl 74_37 +1 known missense c.1427 p.I476T 0.931 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 ZNF808 HGNC ENSG00000198482 109 0 0 86 6 6.52174 ZNF83 0 genome.wustl.edu 37 19 53117122 53117122 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53117122 53117122 A C SNP ZNF83 ENST00000301096 human ensembl 74_37 -1 known silent c.696 p.P232 0.055 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF83 HGNC ENSG00000167766 95 0 0 72 7 8.86076 ZNF600 0 genome.wustl.edu 37 19 53270810 53270810 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53270810 53270810 T A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.199 p.T67S 0.137 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 280 0 0 209 23 9.91379 ZNF28 0 genome.wustl.edu 37 19 53303561 53303561 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53303561 53303561 G A SNP ZNF28 ENST00000457749 human ensembl 74_37 -1 known missense c.1537 p.H513Y 0.258 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 ZNF28 HGNC ENSG00000198538 136 0 0 117 9 7.14286 ZNF320 0 genome.wustl.edu 37 19 53384506 53384506 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53384506 53384506 A T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.873 p.H291Q 0.491 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 ZNF320 HGNC ENSG00000182986 128 0 0 106 12 10.1695 ZNF702P 0 genome.wustl.edu 37 19 53484155 53484155 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53484155 53484155 G A SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.288 - - - no_errors ZNF702P HGNC ENSG00000242779 78 0 0 63 4 5.97015 ZNF160 0 genome.wustl.edu 37 19 53572543 53572543 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53572543 53572543 T C SNP ZNF160 ENST00000418871 human ensembl 74_37 -1 known missense c.1244 p.H415R 0.836 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 ZNF160 HGNC ENSG00000170949 180 0 0 135 12 8.16327 ZNF415 0 genome.wustl.edu 37 19 53612488 53612488 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53612488 53612488 T C SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known silent c.954 p.K318 0.949 smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 92 0 0 45 9 16.6667 ZNF665 0 genome.wustl.edu 37 19 53669504 53669504 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53669504 53669504 C T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.239 p.S80N 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 364 0 0 307 25 7.53012 ZNF845 0 genome.wustl.edu 37 19 53855495 53855495 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53855495 53855495 T C SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.1567 p.Y523H 0.126 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 ZNF845 HGNC ENSG00000213799 58 0 0 52 7 11.8644 ZNF525 0 genome.wustl.edu 37 19 53884297 53884297 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53884297 53884297 G A SNP ZNF525 ENST00000474037 human ensembl 74_37 +1 putative silent c.465 p.Q155 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF525 HGNC ENSG00000203326 166 0 0 93 32 25.6 DPRX 0 genome.wustl.edu 37 19 54139969 54139969 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54139969 54139969 G A SNP DPRX ENST00000376650 human ensembl 74_37 +1 known silent c.303 p.L101 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DPRX HGNC ENSG00000204595 94 0 0 101 8 7.33945 PRKCG 0 genome.wustl.edu 37 19 54401279 54401279 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54401279 54401279 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1006 p.R336C 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 77 0 0 74 6 7.5 CACNG7 0 genome.wustl.edu 37 19 54444820 54444820 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54444820 54444820 G A SNP CACNG7 ENST00000222212 human ensembl 74_37 +1 known missense c.521 p.R174H 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu - no_errors CACNG7 HGNC ENSG00000105605 149 0 0 118 28 19.1781 ZNRF4 0 genome.wustl.edu 37 19 5455652 5455652 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 5455652 5455652 G T SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.150 p.K50N 0.027 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 46 0 0 45 6 11.7647 NDUFA3 0 genome.wustl.edu 37 19 54610152 54610152 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54610152 54610152 G A SNP NDUFA3 ENST00000419113 human ensembl 74_37 +1 known silent c.198 p.V66 0.965 NULL NULL - no_errors NDUFA3 HGNC ENSG00000170906 33 0 0 36 3 7.69231 PRPF31 0 genome.wustl.edu 37 19 54627208 54627208 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54627208 54627208 G A SNP PRPF31 ENST00000321030 human ensembl 74_37 +1 known missense c.608 p.R203H 1.000 pfam_Nop_dom pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 51 0 0 53 4 7.01754 RPS9 0 genome.wustl.edu 37 19 54710226 54710226 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54710226 54710226 G A SNP RPS9 ENST00000302907 human ensembl 74_37 +1 known silent c.303 p.K101 1.000 pfam_Ribosomal_S4/S9_N,tigrfam_Ribosomal_S4/S9_euk/arc pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 53 0 0 36 6 14.2857 LILRB2 0 genome.wustl.edu 37 19 54780709 54780709 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54780709 54780709 G A SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known missense c.1435 p.L479F 0.090 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 117 0 0 105 6 5.40541 LENG8 0 genome.wustl.edu 37 19 54966185 54966185 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54966185 54966185 T C SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.735 p.V245 0.999 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 42 0 0 41 4 8.88889 LENG8 0 genome.wustl.edu 37 19 54969365 54969365 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54969365 54969365 T C SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known silent c.1986 p.F662 0.997 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 75 0 0 61 8 11.5942 LENG8 0 genome.wustl.edu 37 19 54969555 54969555 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54969555 54969555 G A SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.2095 p.A699T 1.000 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 75 0 0 76 11 12.6437 LILRA1 0 genome.wustl.edu 37 19 55106363 55106363 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55106363 55106363 A G SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.304 p.S102G 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 95 0 0 90 8 8.16327 LILRA1 0 genome.wustl.edu 37 19 55107772 55107772 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55107772 55107772 G A SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known silent c.1077 p.K359 0.022 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 102 0 0 96 7 6.79612 KIR2DL1 0 genome.wustl.edu 37 19 55282338 55282338 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55282338 55282338 T C SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known splice_site c.70+2 e2+2 0.807 - - - no_errors KIR2DL1 HGNC ENSG00000125498 250 0 0 229 68 22.8956 NLRP7 0 genome.wustl.edu 37 19 55445028 55445028 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55445028 55445028 G T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.2635 p.L879M 0.997 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP7 HGNC ENSG00000167634 100 1 0.990099 63 10 13.6986 GP6 0 genome.wustl.edu 37 19 55539169 55539169 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55539169 55539169 G A SNP GP6 ENST00000310373 human ensembl 74_37 -1 known silent c.387 p.D129 0.001 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 221 2 0.896861 204 18 8.10811 EPS8L1 0 genome.wustl.edu 37 19 55597335 55597335 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55597335 55597335 A G SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known silent c.1512 p.V504 0.002 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 35 0 0 47 4 7.84314 TNNT1 0 genome.wustl.edu 37 19 55644293 55644293 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55644293 55644293 C T SNP TNNT1 ENST00000588981 human ensembl 74_37 -1 known missense c.827 p.R276H 1.000 NULL pfam_Troponin - no_errors TNNT1 HGNC ENSG00000105048 21 0 0 11 5 31.25 SAFB2 0 genome.wustl.edu 37 19 5592843 5592843 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 5592843 5592843 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known missense c.2263 p.R755C 0.998 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 50 0 0 36 5 12.1951 ZNF579 0 genome.wustl.edu 37 19 56089958 56089958 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56089958 56089958 C T SNP ZNF579 ENST00000325421 human ensembl 74_37 -1 known missense c.1048 p.E350K 0.166 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF579 HGNC ENSG00000218891 11 0 0 9 5 35.7143 U2AF2 0 genome.wustl.edu 37 19 56166521 56166521 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56166521 56166521 T C SNP U2AF2 ENST00000308924 human ensembl 74_37 +1 known splice_site c.49+2 e1+2 0.962 - - - no_errors U2AF2 HGNC ENSG00000063244 51 0 0 35 7 16.6667 EPN1 0 genome.wustl.edu 37 19 56203213 56203213 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56203213 56203213 G A SNP EPN1 ENST00000411543 human ensembl 74_37 +1 known missense c.1114 p.V372I 0.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 50 0 0 61 6 8.95522 NLRP9 0 genome.wustl.edu 37 19 56243849 56243849 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56243849 56243849 C A SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known nonsense c.1348 p.E450* 0.996 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 NLRP9 HGNC ENSG00000185792 183 0 0 175 12 6.41711 NLRP4 0 genome.wustl.edu 37 19 56369592 56369592 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56369592 56369592 C T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.833 p.A278V 0.183 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 NLRP4 HGNC ENSG00000160505 101 0 0 82 21 20.3883 NLRP4 0 genome.wustl.edu 37 19 56369735 56369735 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56369735 56369735 A G SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.976 p.N326D 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 NLRP4 HGNC ENSG00000160505 108 0 0 91 11 10.7843 NLRP4 0 genome.wustl.edu 37 19 56370579 56370579 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56370579 56370579 A G SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known missense c.1820 p.Q607R 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 NLRP4 HGNC ENSG00000160505 90 0 0 78 23 22.7723 NLRP13 0 genome.wustl.edu 37 19 56423337 56423337 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56423337 56423337 A C SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.1846 p.L616V 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 NLRP13 HGNC ENSG00000173572 83 0 0 65 4 5.7971 NLRP13 0 genome.wustl.edu 37 19 56443673 56443673 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56443673 56443673 T C SNP NLRP13 ENST00000342929 human ensembl 74_37 -1 known missense c.5 p.N2S 0.002 pfscan_DAPIN 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 NLRP13 HGNC ENSG00000173572 60 0 0 64 4 5.88235 NLRP5 0 genome.wustl.edu 37 19 56515301 56515301 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56515301 56515301 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.282 p.C94 0.000 pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN 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 NLRP5 HGNC ENSG00000171487 91 0 0 66 5 7.04225 NLRP5 0 genome.wustl.edu 37 19 56539246 56539246 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56539246 56539246 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.1647 p.D549 0.010 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 NLRP5 HGNC ENSG00000171487 28 0 0 26 9 25.7143 NLRP5 0 genome.wustl.edu 37 19 56565026 56565026 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56565026 56565026 G A SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.3151 p.A1051T 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ 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 NLRP5 HGNC ENSG00000171487 31 0 0 40 4 9.09091 ZSCAN5B 0 genome.wustl.edu 37 19 56701494 56701494 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56701494 56701494 T G SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known missense c.1190 p.D397A 0.230 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZSCAN5B HGNC ENSG00000197213 59 0 0 57 5 8.06452 ZSCAN5B 0 genome.wustl.edu 37 19 56702324 56702324 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56702324 56702324 G A SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known silent c.621 p.D207 0.000 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 ZSCAN5B HGNC ENSG00000197213 152 0 0 105 33 23.913 RPL36 0 genome.wustl.edu 37 19 5691598 5691598 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 5691598 5691598 C T SNP RPL36 ENST00000347512 human ensembl 74_37 +1 known missense c.284 p.A95V 0.935 pfam_Ribosomal_L36e pfam_Ribosomal_L36e - no_errors RPL36 HGNC ENSG00000130255 30 0 0 22 3 12 ZNF667 0 genome.wustl.edu 37 19 56952773 56952773 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56952773 56952773 T C SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1975 p.T659A 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 79 0 0 61 6 8.95522 ZNF471 0 genome.wustl.edu 37 19 57036632 57036632 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57036632 57036632 G A SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.1196 p.G399E 1.000 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 ZNF471 HGNC ENSG00000196263 113 0 0 76 5 6.17284 ZNF470 0 genome.wustl.edu 37 19 57089759 57089759 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57089759 57089759 T C SNP ZNF470 ENST00000330619 human ensembl 74_37 +1 known silent c.1962 p.C654 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF470 HGNC ENSG00000197016 72 0 0 49 5 9.25926 ZNF71 0 genome.wustl.edu 37 19 57133693 57133693 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57133693 57133693 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.1038 p.R346 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 73 0 0 67 4 5.6338 ZNF835 0 genome.wustl.edu 37 19 57175250 57175250 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57175250 57175250 C T SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.1317 p.T439 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 57 0 0 54 11 16.9231 ZNF835 0 genome.wustl.edu 37 19 57176405 57176405 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57176405 57176405 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.162 p.R54 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 53 0 0 48 6 11.1111 PEG3 0 genome.wustl.edu 37 19 57327048 57327048 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57327048 57327048 T G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2762 p.E921A 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 153 0 0 160 15 8.57143 PEG3 0 genome.wustl.edu 37 19 57328459 57328459 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57328459 57328459 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1351 p.P451S 0.419 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 162 0 0 143 12 7.74194 PEG3 0 genome.wustl.edu 37 19 57347438 57347438 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57347438 57347438 G A SNP PEG3 ENST00000594706 human ensembl 74_37 -1 known rna NULL NULL 0.059 - - - no_errors PEG3 HGNC ENSG00000198300 16 0 0 5 7 58.3333 USP29 0 genome.wustl.edu 37 19 57641113 57641113 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57641113 57641113 T C SNP USP29 ENST00000254181 human ensembl 74_37 +1 known missense c.1070 p.V357A 0.967 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP29 HGNC ENSG00000131864 116 0 0 102 8 7.27273 ZIM3 0 genome.wustl.edu 37 19 57647393 57647393 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57647393 57647393 G A SNP ZIM3 ENST00000269834 human ensembl 74_37 -1 known silent c.312 p.V104 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZIM3 HGNC ENSG00000141946 227 0 0 176 14 7.36842 ZNF543 0 genome.wustl.edu 37 19 57839292 57839292 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57839292 57839292 T C SNP ZNF543 ENST00000321545 human ensembl 74_37 +1 known silent c.462 p.R154 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF543 HGNC ENSG00000178229 94 0 0 93 12 11.4286 VN1R1 0 genome.wustl.edu 37 19 57967256 57967256 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57967256 57967256 C A SNP VN1R1 ENST00000321039 human ensembl 74_37 -1 known missense c.599 p.S200I 0.000 pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Vmron_rcpt_1 - no_errors VN1R1 HGNC ENSG00000178201 88 0 0 53 14 20.8955 ZNF772 0 genome.wustl.edu 37 19 57984675 57984675 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57984675 57984675 G A SNP ZNF772 ENST00000343280 human ensembl 74_37 -1 known silent c.1437 p.R479 0.000 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 ZNF772 HGNC ENSG00000197128 52 0 0 41 4 8.88889 ZNF549 0 genome.wustl.edu 37 19 58049755 58049755 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58049755 58049755 G A SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.1383 p.M461I 0.000 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 ZNF549 HGNC ENSG00000121406 57 0 0 41 9 18 ZNF551 0 genome.wustl.edu 37 19 58196633 58196633 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58196633 58196633 A G SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.85 p.M29V 0.027 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 141 0 0 100 26 20.6349 ZNF776 0 genome.wustl.edu 37 19 58264668 58264668 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58264668 58264668 A C SNP ZNF776 ENST00000317178 human ensembl 74_37 +1 known missense c.170 p.Y57S 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF776 HGNC ENSG00000152443 172 0 0 149 15 9.14634 ZNF586 0 genome.wustl.edu 37 19 58290443 58290443 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58290443 58290443 C A SNP ZNF586 ENST00000396154 human ensembl 74_37 +1 known missense c.488 p.S163Y 0.002 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 ZNF586 HGNC ENSG00000083828 114 0 0 89 5 5.31915 ZNF552 0 genome.wustl.edu 37 19 58319610 58319610 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58319610 58319610 A T SNP ZNF552 ENST00000391701 human ensembl 74_37 -1 known missense c.1022 p.V341D 0.000 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 ZNF552 HGNC ENSG00000178935 112 0 0 88 9 9.27835 ZNF417 0 genome.wustl.edu 37 19 58420088 58420088 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58420088 58420088 A G SNP ZNF417 ENST00000312026 human ensembl 74_37 -1 known missense c.1558 p.Y520H 0.170 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 ZNF417 HGNC ENSG00000173480 141 0 0 107 12 10.084 ZNF418 0 genome.wustl.edu 37 19 58437734 58437734 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58437734 58437734 C T SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known silent c.1815 p.A605 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 103 0 0 89 8 8.24742 ZNF418 0 genome.wustl.edu 37 19 58438155 58438155 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58438155 58438155 C T SNP ZNF418 ENST00000396147 human ensembl 74_37 -1 known missense c.1394 p.G465D 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF418 HGNC ENSG00000196724 207 0 0 167 12 6.70391 ZNF256 0 genome.wustl.edu 37 19 58453338 58453338 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58453338 58453338 A T SNP ZNF256 ENST00000282308 human ensembl 74_37 -1 known missense c.838 p.S280T 0.000 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 ZNF256 HGNC ENSG00000152454 137 0 0 113 14 11.0236 ZNF606 0 genome.wustl.edu 37 19 58490577 58490577 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58490577 58490577 T C SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known missense c.1471 p.K491E 1.000 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 ZNF606 HGNC ENSG00000166704 59 0 0 46 5 9.80392 ZNF135 0 genome.wustl.edu 37 19 58578557 58578557 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58578557 58578557 G A SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known silent c.777 p.T259 0.000 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 ZNF135 HGNC ENSG00000176293 114 0 0 102 8 7.27273 ZNF135 0 genome.wustl.edu 37 19 58579384 58579384 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58579384 58579384 A G SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.1604 p.K535R 0.010 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 ZNF135 HGNC ENSG00000176293 40 0 0 45 4 8.16327 ZSCAN18 0 genome.wustl.edu 37 19 58601478 58601478 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58601478 58601478 G A SNP ZSCAN18 ENST00000600404 human ensembl 74_37 -1 known missense c.325 p.R109W 0.802 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ENSG00000121413 52 0 0 47 10 17.5439 ZNF329 0 genome.wustl.edu 37 19 58640601 58640601 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58640601 58640601 A C SNP ZNF329 ENST00000358067 human ensembl 74_37 -1 known silent c.270 p.G90 0.019 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 159 0 0 129 11 7.85714 ZNF544 0 genome.wustl.edu 37 19 58773443 58773443 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58773443 58773443 C A SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known missense c.1471 p.P491T 0.989 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 ZNF544 HGNC ENSG00000198131 104 0 0 89 12 11.8812 ZNF8 0 genome.wustl.edu 37 19 58805954 58805954 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58805954 58805954 T C SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known silent c.780 p.T260 0.011 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 ZNF8 Uniprot_gn ENSG00000083842 72 0 0 48 8 14.2857 ZNF8 0 genome.wustl.edu 37 19 58806852 58806852 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58806852 58806852 G T SNP ZNF8 ENST00000196548 human ensembl 74_37 +1 known nonsense c.1678 p.E560* 1.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF8 Uniprot_gn ENSG00000083842 85 0 0 68 5 6.84932 ZNF584 0 genome.wustl.edu 37 19 58928251 58928251 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58928251 58928251 G T SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known missense c.366 p.Q122H 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF584 HGNC ENSG00000171574 63 0 0 37 11 22.9167 ZNF132 0 genome.wustl.edu 37 19 58946066 58946066 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58946066 58946066 A G SNP ZNF132 ENST00000254166 human ensembl 74_37 -1 known missense c.745 p.S249P 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF132 HGNC ENSG00000131849 165 0 0 119 12 9.16031 ZNF446 0 genome.wustl.edu 37 19 58988885 58988885 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58988885 58988885 A G SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known silent c.300 p.L100 0.997 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 54 0 0 46 10 17.8571 TRIM28 0 genome.wustl.edu 37 19 59061206 59061206 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 59061206 59061206 G T SNP TRIM28 ENST00000253024 human ensembl 74_37 +1 known missense c.2085 p.K695N 1.000 superfamily_Bromodomain pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 71 0 0 69 5 6.75676 MZF1 0 genome.wustl.edu 37 19 59074414 59074414 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 59074414 59074414 C T SNP MZF1 ENST00000215057 human ensembl 74_37 -1 known silent c.1230 p.R410 0.279 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors MZF1 HGNC ENSG00000099326 29 0 0 36 2 5.26316 ACSBG2 0 genome.wustl.edu 37 19 6187702 6187702 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6187702 6187702 C T SNP ACSBG2 ENST00000252669 human ensembl 74_37 +1 known silent c.1773 p.T591 0.004 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ENSG00000130377 47 0 0 66 4 5.71429 POLRMT 0 genome.wustl.edu 37 19 622628 622628 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 622628 622628 T C SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.1580 p.Q527R 0.143 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 22 0 0 15 2 11.7647 POLRMT 0 genome.wustl.edu 37 19 624774 624774 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 624774 624774 G A SNP POLRMT ENST00000588649 human ensembl 74_37 -1 known missense c.1085 p.P362L 0.024 NULL pfam_DNA-dir_Rpol_phage-type - no_errors POLRMT HGNC ENSG00000099821 71 0 0 70 6 7.89474 KHSRP 0 genome.wustl.edu 37 19 6418522 6418522 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6418522 6418522 C T SNP KHSRP ENST00000398148 human ensembl 74_37 -1 known missense c.851 p.R284H 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHSRP HGNC ENSG00000088247 41 0 0 28 4 12.5 C3 0 genome.wustl.edu 37 19 6697697 6697697 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6697697 6697697 A C SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2549 p.V850G 0.699 pfam_Macroglobln_a2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 36 0 0 45 3 6.25 C3 0 genome.wustl.edu 37 19 6710735 6710735 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6710735 6710735 T C SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1601 p.Y534C 0.999 pfam_A2M_N_2 pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 76 0 0 70 7 9.09091 TRIP10 0 genome.wustl.edu 37 19 6750304 6750304 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6750304 6750304 C T SNP TRIP10 ENST00000313244 human ensembl 74_37 +1 known missense c.1397 p.A466V 0.295 NULL pfam_FCH_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 84 0 0 71 4 5.33333 VAV1 0 genome.wustl.edu 37 19 6853059 6853059 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6853059 6853059 G A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known silent c.2301 p.E767 0.998 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 63 0 0 54 5 8.47458 EMR1 0 genome.wustl.edu 37 19 6921803 6921803 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6921803 6921803 G A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.1700 p.C567Y 0.993 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 114 0 0 98 14 12.5 EMR1 0 genome.wustl.edu 37 19 6937571 6937571 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6937571 6937571 A G SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.2567 p.K856R 0.235 NULL pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 110 0 0 76 11 12.6437 ZNF557 0 genome.wustl.edu 37 19 7082971 7082971 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7082971 7082971 A T SNP ZNF557 ENST00000252840 human ensembl 74_37 +1 known missense c.509 p.H170L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF557 HGNC ENSG00000130544 72 0 0 65 8 10.9589 INSR 0 genome.wustl.edu 37 19 7125522 7125522 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7125522 7125522 C T SNP INSR ENST00000302850 human ensembl 74_37 -1 known silent c.3030 p.V1010 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 68 0 0 47 11 18.9655 INSR 0 genome.wustl.edu 37 19 7166350 7166350 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7166350 7166350 A G SNP INSR ENST00000302850 human ensembl 74_37 -1 known missense c.1676 p.V559A 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSR HGNC ENSG00000171105 44 0 0 40 9 18.3673 PALM 0 genome.wustl.edu 37 19 746583 746583 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 746583 746583 G T SNP PALM ENST00000338448 human ensembl 74_37 +1 known missense c.933 p.E311D 0.996 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 44 0 0 31 3 8.82353 PALM 0 genome.wustl.edu 37 19 746586 746586 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 746586 746586 C A SNP PALM ENST00000338448 human ensembl 74_37 +1 known silent c.936 p.A312 0.003 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 44 0 0 27 8 22.8571 ARHGEF18 0 genome.wustl.edu 37 19 7509264 7509264 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7509264 7509264 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.971 p.R324H 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 58 0 0 64 5 7.24638 C19orf45 0 genome.wustl.edu 37 19 7569089 7569089 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7569089 7569089 A G SNP C19orf45 ENST00000361664 human ensembl 74_37 +1 known silent c.660 p.P220 0.959 NULL NULL - no_errors C19orf45 HGNC ENSG00000198723 40 0 0 48 9 15.7895 MISP 0 genome.wustl.edu 37 19 757580 757580 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 757580 757580 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known missense c.634 p.H212Y 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 22 0 0 36 2 5.26316 MISP 0 genome.wustl.edu 37 19 758560 758560 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 758560 758560 G A SNP MISP ENST00000215582 human ensembl 74_37 +1 known silent c.1614 p.L538 0.893 NULL NULL - no_errors MISP HGNC ENSG00000099812 55 0 0 49 16 24.6154 MCOLN1 0 genome.wustl.edu 37 19 7591654 7591654 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7591654 7591654 C T SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.413 p.A138V 0.003 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 37 0 0 33 9 21.4286 MCOLN1 0 genome.wustl.edu 37 19 7593720 7593720 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7593720 7593720 T C SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.998 p.F333S 1.000 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 33 0 0 30 3 9.09091 XAB2 0 genome.wustl.edu 37 19 7684649 7684649 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7684649 7684649 C A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.2490 p.M830I 0.997 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 121 1 0.819672 160 12 6.97674 XAB2 0 genome.wustl.edu 37 19 7692152 7692152 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7692152 7692152 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known nonsense c.499 p.R167* 1.000 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 43 0 0 27 10 27.027 PCP2 0 genome.wustl.edu 37 19 7696662 7696662 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7696662 7696662 A G SNP PCP2 ENST00000311069 human ensembl 74_37 -1 known silent c.324 p.S108 0.995 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC ENSG00000174788 46 0 0 46 6 11.5385 CLEC4G 0 genome.wustl.edu 37 19 7794289 7794289 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7794289 7794289 T G SNP CLEC4G ENST00000328853 human ensembl 74_37 -1 known missense c.845 p.K282T 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4G HGNC ENSG00000182566 55 0 0 45 5 10 EVI5L 0 genome.wustl.edu 37 19 7914150 7914150 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7914150 7914150 G A SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known silent c.561 p.S187 0.966 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors EVI5L HGNC ENSG00000142459 71 0 0 62 6 8.82353 MAP2K7 0 genome.wustl.edu 37 19 7975230 7975230 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7975230 7975230 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.545 p.R182Q 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 24 0 0 22 2 8.33333 MAP2K7 0 genome.wustl.edu 37 19 7976042 7976042 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7976042 7976042 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.979 p.A327T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 28 0 0 27 4 12.9032 MAP2K7 0 genome.wustl.edu 37 19 7977189 7977189 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7977189 7977189 G T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.1259 p.S420I 0.993 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K7 HGNC ENSG00000076984 46 0 0 44 3 6.38298 SNAPC2 0 genome.wustl.edu 37 19 7987422 7987422 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 7987422 7987422 T C SNP SNAPC2 ENST00000221573 human ensembl 74_37 +1 known missense c.778 p.Y260H 0.099 pfam_SnAPC_su2-like pfam_SnAPC_su2-like - no_errors SNAPC2 HGNC ENSG00000104976 59 0 0 55 14 20.2899 CCL25 0 genome.wustl.edu 37 19 8121288 8121288 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 8121288 8121288 A T SNP CCL25 ENST00000390669 human ensembl 74_37 +1 known missense c.230 p.N77I 0.976 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL25 HGNC ENSG00000131142 29 0 0 27 3 10 FBN3 0 genome.wustl.edu 37 19 8175763 8175763 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 8175763 8175763 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.4299 p.G1433 0.997 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 103 0 0 92 17 15.5963 PRAM1 0 genome.wustl.edu 37 19 8563997 8563997 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 8563997 8563997 T C SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.695 p.Q232R 0.008 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 45 0 0 42 8 16 MYO1F 0 genome.wustl.edu 37 19 8595214 8595214 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 8595214 8595214 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.2194 p.R732C 0.579 pfam_Myosin_tail_2,superfamily_P-loop_NTPase pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 175 0 0 177 17 8.76289 ADAMTS10 0 genome.wustl.edu 37 19 8661991 8661991 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 8661991 8661991 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.920 p.A307V 0.999 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 85 0 0 84 6 6.66667 MED16 0 genome.wustl.edu 37 19 886033 886033 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 886033 886033 G T SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.616 p.L206M 1.000 pfam_Mediator_Med16,superfamily_WD40_repeat_dom pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 21 0 0 14 2 12.5 MBD3L1 0 genome.wustl.edu 37 19 8953661 8953661 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 8953661 8953661 G A SNP MBD3L1 ENST00000305625 human ensembl 74_37 +1 known missense c.307 p.G103R 0.002 NULL NULL - no_errors MBD3L1 HGNC ENSG00000170948 78 0 0 81 10 10.989 MUC16 0 genome.wustl.edu 37 19 9003630 9003630 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9003630 9003630 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.40010 p.E13337A 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 194 0 0 178 15 7.77202 MUC16 0 genome.wustl.edu 37 19 9008180 9008180 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9008180 9008180 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.39372 p.Y13124 0.799 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 218 0 0 182 54 22.8814 MUC16 0 genome.wustl.edu 37 19 9014204 9014204 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9014204 9014204 C A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.38444 p.G12815V 0.254 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 62 0 0 49 5 9.25926 MUC16 0 genome.wustl.edu 37 19 9024831 9024831 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9024831 9024831 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.37031 p.V12344D 0.835 smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 171 0 0 161 10 5.84795 MUC16 0 genome.wustl.edu 37 19 9046516 9046516 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9046516 9046516 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.35115 p.T11705 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 141 0 0 133 14 9.52381 MUC16 0 genome.wustl.edu 37 19 9047431 9047431 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9047431 9047431 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.34200 p.V11400 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 149 0 0 138 10 6.75676 MUC16 0 genome.wustl.edu 37 19 9068197 9068197 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9068197 9068197 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.19249 p.P6417S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 153 0 0 131 9 6.42857 MUC16 0 genome.wustl.edu 37 19 9072001 9072001 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9072001 9072001 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.15445 p.K5149E 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 212 0 0 164 13 7.34463 MUC16 0 genome.wustl.edu 37 19 9076686 9076686 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9076686 9076686 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.10760 p.A3587V 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 135 0 0 114 6 5 MUC16 0 genome.wustl.edu 37 19 9091505 9091505 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9091505 9091505 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.310 p.S104P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 122 0 0 142 10 6.57895 MUC16 0 genome.wustl.edu 37 19 9091600 9091600 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9091600 9091600 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.215 p.V72A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 92 0 0 89 22 19.8198 OR1M1 0 genome.wustl.edu 37 19 9204164 9204164 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9204164 9204164 C A SNP OR1M1 ENST00000429566 human ensembl 74_37 +1 known missense c.244 p.L82M 0.849 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 OR1M1 HGNC ENSG00000170929 65 0 0 48 5 9.43396 OR7G3 0 genome.wustl.edu 37 19 9236852 9236852 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9236852 9236852 A G SNP OR7G3 ENST00000305444 human ensembl 74_37 -1 known missense c.775 p.Y259H 0.046 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G3 HGNC ENSG00000170920 102 0 0 104 15 12.605 OR7D4 0 genome.wustl.edu 37 19 9325015 9325015 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9325015 9325015 T C SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.499 p.T167A 0.577 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 OR7D4 HGNC ENSG00000174667 78 0 0 74 6 7.5 ZNF560 0 genome.wustl.edu 37 19 9578698 9578698 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9578698 9578698 C T SNP ZNF560 ENST00000301480 human ensembl 74_37 -1 known missense c.925 p.A309T 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ENSG00000198028 114 0 0 110 12 9.83607 ZNF121 0 genome.wustl.edu 37 19 9676744 9676744 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9676744 9676744 A C SNP ZNF121 ENST00000586602 human ensembl 74_37 -1 known missense c.1045 p.F349V 0.069 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF121 HGNC ENSG00000197961 76 0 0 44 10 18.5185 ARID3A 0 genome.wustl.edu 37 19 971952 971952 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 971952 971952 A G SNP ARID3A ENST00000263620 human ensembl 74_37 +1 known missense c.1669 p.S557G 0.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3A HGNC ENSG00000116017 43 0 0 50 6 10.7143 ZNF562 0 genome.wustl.edu 37 19 9764064 9764064 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9764064 9764064 G A SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.842 p.T281I 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF562 HGNC ENSG00000171466 99 0 0 68 12 15 ZNF562 0 genome.wustl.edu 37 19 9764069 9764069 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9764069 9764069 T C SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known silent c.837 p.A279 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF562 HGNC ENSG00000171466 99 0 0 71 14 16.4706 ZNF562 0 genome.wustl.edu 37 19 9764070 9764070 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9764070 9764070 G A SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known missense c.836 p.A279V 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF562 HGNC ENSG00000171466 97 0 0 71 15 17.4419 ZNF846 0 genome.wustl.edu 37 19 9868340 9868340 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9868340 9868340 C T SNP ZNF846 ENST00000397902 human ensembl 74_37 -1 known silent c.1413 p.T471 0.040 pfam_Znf_C2H2,smart_Znf_BED_prd,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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF846 HGNC ENSG00000196605 93 0 0 65 14 17.7215 FBXL12 0 genome.wustl.edu 37 19 9921713 9921713 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9921713 9921713 A G SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known silent c.840 p.T280 0.155 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 33 0 0 18 3 14.2857 FBXL12 0 genome.wustl.edu 37 19 9922090 9922090 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9922090 9922090 A G SNP FBXL12 ENST00000247977 human ensembl 74_37 -1 known missense c.463 p.C155R 0.063 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXL12 HGNC ENSG00000127452 65 0 0 71 4 5.33333 PIN1 0 genome.wustl.edu 37 19 9949266 9949266 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9949266 9949266 G A SNP PIN1 ENST00000247970 human ensembl 74_37 +1 known silent c.213 p.S71 0.577 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom,pfscan_PPIase_PpiC - no_errors PIN1 HGNC ENSG00000127445 8 0 0 10 3 23.0769 PIN1 0 genome.wustl.edu 37 19 9960268 9960268 + RNA SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9960268 9960268 G C SNP PIN1 ENST00000380889 human ensembl 74_37 +1 known rna NULL NULL 0.770 - - - no_errors PIN1 HGNC ENSG00000127445 60 0 0 63 9 12.5 GRHL1 0 genome.wustl.edu 37 2 10095208 10095208 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 10095208 10095208 G A SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.185 p.G62D 1.000 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 32 0 0 25 4 13.7931 GRHL1 0 genome.wustl.edu 37 2 10130832 10130832 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 10130832 10130832 G A SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known silent c.1278 p.E426 0.994 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 27 0 0 17 5 22.7273 GRHL1 0 genome.wustl.edu 37 2 10130874 10130874 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 10130874 10130874 A G SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known silent c.1320 p.K440 1.000 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 42 0 0 25 4 13.7931 NPAS2 0 genome.wustl.edu 37 2 101584868 101584868 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 101584868 101584868 G A SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.1228 p.V410M 1.000 pfam_PAS_fold_3,superfamily_PAS,smart_PAC pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 86 0 0 55 23 29.4872 TBC1D8 0 genome.wustl.edu 37 2 101656725 101656725 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 101656725 101656725 G A SNP TBC1D8 ENST00000409318 human ensembl 74_37 -1 known missense c.995 p.T332M 0.000 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 62 0 0 67 4 5.6338 MAP4K4 0 genome.wustl.edu 37 2 102490623 102490623 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 102490623 102490623 T A SNP MAP4K4 ENST00000324219 human ensembl 74_37 +1 known missense c.2958 p.N986K 0.990 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K4 HGNC ENSG00000071054 35 0 0 33 8 19.5122 IL1R1 0 genome.wustl.edu 37 2 102781461 102781461 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 102781461 102781461 G A SNP IL1R1 ENST00000233946 human ensembl 74_37 +1 known missense c.289 p.V97M 0.003 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R1 HGNC ENSG00000115594 73 0 0 63 4 5.97015 IL1RL2 0 genome.wustl.edu 37 2 102842390 102842390 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 102842390 102842390 C A SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known missense c.1024 p.L342I 0.283 prints_IL-1_rcpt_I-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 41 0 0 25 7 21.875 IL1RL2 0 genome.wustl.edu 37 2 102851656 102851656 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 102851656 102851656 A G SNP IL1RL2 ENST00000264257 human ensembl 74_37 +1 known missense c.1597 p.R533G 0.995 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ,prints_IL-1_rcpt_I-typ - no_errors IL1RL2 HGNC ENSG00000115598 84 0 0 69 5 6.75676 IL1RL1 0 genome.wustl.edu 37 2 102955465 102955465 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 102955465 102955465 C T SNP IL1RL1 ENST00000233954 human ensembl 74_37 +1 known missense c.230 p.A77V 0.151 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,prints_IL-1_rcpt_I/II-typ,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 222 0 0 187 10 5.07614 IL1RL1 0 genome.wustl.edu 37 2 102968241 102968241 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 102968241 102968241 A G SNP IL1RL1 ENST00000233954 human ensembl 74_37 +1 known missense c.1531 p.K511E 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,prints_IL-1_rcpt_I/II-typ,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RL1 HGNC ENSG00000115602 53 0 0 47 4 7.84314 IL18R1 0 genome.wustl.edu 37 2 103010928 103010928 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 103010928 103010928 G A SNP IL18R1 ENST00000233957 human ensembl 74_37 +1 known splice_site c.1112-1 e9-1 1.000 - - - no_errors IL18R1 HGNC ENSG00000115604 84 0 0 60 4 6.25 IL18RAP 0 genome.wustl.edu 37 2 103040692 103040692 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 103040692 103040692 A C SNP IL18RAP ENST00000264260 human ensembl 74_37 +1 known missense c.397 p.S133R 0.722 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL18RAP HGNC ENSG00000115607 89 0 0 59 14 19.1781 SLC9A4 0 genome.wustl.edu 37 2 103090419 103090419 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 103090419 103090419 G A SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known silent c.201 p.V67 0.987 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 148 0 0 113 12 9.6 SLC9A4 0 genome.wustl.edu 37 2 103121821 103121821 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 103121821 103121821 G C SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1089 p.E363D 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 81 0 0 52 18 25.7143 SLC9A4 0 genome.wustl.edu 37 2 103130670 103130670 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 103130670 103130670 A G SNP SLC9A4 ENST00000295269 human ensembl 74_37 +1 known missense c.1681 p.T561A 0.231 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 145 0 0 101 10 9.00901 HPCAL1 0 genome.wustl.edu 37 2 10559932 10559932 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 10559932 10559932 C T SNP HPCAL1 ENST00000307845 human ensembl 74_37 +1 known missense c.49 p.R17W 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 HPCAL1 HGNC ENSG00000115756 37 0 0 34 9 20.9302 C2orf40 0 genome.wustl.edu 37 2 106690348 106690348 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 106690348 106690348 T C SNP C2orf40 ENST00000238044 human ensembl 74_37 +1 known missense c.134 p.V45A 0.820 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 239 0 0 181 20 9.95025 C2orf40 0 genome.wustl.edu 37 2 106694242 106694242 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 106694242 106694242 T G SNP C2orf40 ENST00000238044 human ensembl 74_37 +1 known missense c.307 p.Y103D 0.991 NULL NULL - no_errors C2orf40 HGNC ENSG00000119147 109 0 0 102 7 6.42202 NOL10 0 genome.wustl.edu 37 2 10729375 10729375 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 10729375 10729375 T C SNP NOL10 ENST00000381685 human ensembl 74_37 -1 known silent c.1638 p.E546 1.000 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 93 0 0 76 8 9.52381 SNTG2 0 genome.wustl.edu 37 2 1079240 1079240 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 1079240 1079240 T A SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.109 p.S37T 0.760 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 115 1 0.862069 81 8 8.98876 RGPD4 0 genome.wustl.edu 37 2 108487789 108487789 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 108487789 108487789 C T SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known missense c.3329 p.A1110V 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 227 0 0 141 44 23.7838 RANBP2 0 genome.wustl.edu 37 2 109371632 109371632 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109371632 109371632 T A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2383 p.Y795N 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 325 0 0 276 25 8.30565 RANBP2 0 genome.wustl.edu 37 2 109371681 109371681 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109371681 109371681 T G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2432 p.L811R 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 356 1 0.280112 285 23 7.46753 RANBP2 0 genome.wustl.edu 37 2 109371714 109371714 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109371714 109371714 A C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.2465 p.K822T 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 294 0 0 219 15 6.41026 RANBP2 0 genome.wustl.edu 37 2 109380767 109380767 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109380767 109380767 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.3772 p.A1258T 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 96 0 0 64 14 17.9487 RANBP2 0 genome.wustl.edu 37 2 109380996 109380996 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109380996 109380996 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.4001 p.I1334T 0.057 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 91 0 0 53 7 11.6667 SOWAHC 0 genome.wustl.edu 37 2 110373498 110373498 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 110373498 110373498 A G SNP SOWAHC ENST00000356454 human ensembl 74_37 +1 known missense c.1432 p.R478G 0.942 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHC HGNC ENSG00000198142 86 0 0 67 8 10.6667 ZC3H6 0 genome.wustl.edu 37 2 113089388 113089388 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 113089388 113089388 C G SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known missense c.2893 p.L965V 0.996 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 83 0 0 74 6 7.5 ZC3H6 0 genome.wustl.edu 37 2 113090015 113090015 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 113090015 113090015 C T SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known silent c.3520 p.L1174 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 196 0 0 141 18 11.3208 POLR1B 0 genome.wustl.edu 37 2 113315607 113315607 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 113315607 113315607 A G SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known missense c.1393 p.T465A 1.000 NULL pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 73 0 0 51 3 5.55556 POLR1B 0 genome.wustl.edu 37 2 113332742 113332742 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 113332742 113332742 A G SNP POLR1B ENST00000541869 human ensembl 74_37 +1 known silent c.2958 p.T986 0.813 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC ENSG00000125630 128 0 0 116 12 9.375 CKAP2L 0 genome.wustl.edu 37 2 113498582 113498582 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 113498582 113498582 T A SNP CKAP2L ENST00000302450 human ensembl 74_37 -1 known missense c.1825 p.I609F 0.001 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 139 0 0 114 9 7.31707 CKAP2L 0 genome.wustl.edu 37 2 113513703 113513703 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 113513703 113513703 T C SNP CKAP2L ENST00000435431 human ensembl 74_37 -1 known missense c.487 p.T163A 0.072 NULL NULL - no_errors CKAP2L HGNC ENSG00000169607 222 0 0 181 10 5.2356 CBWD2 0 genome.wustl.edu 37 2 114195463 114195463 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 114195463 114195463 A T SNP CBWD2 ENST00000259199 human ensembl 74_37 +1 known silent c.18 p.G6 0.000 NULL pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD2 HGNC ENSG00000136682 118 0 0 68 7 9.33333 FOXD4L1 0 genome.wustl.edu 37 2 114257141 114257141 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 114257141 114257141 G A SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.308 p.R103Q 0.247 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 155 0 0 132 43 24.5714 FOXD4L1 0 genome.wustl.edu 37 2 114257269 114257269 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 114257269 114257269 C T SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known missense c.436 p.R146C 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 240 0 0 269 23 7.87671 FOXD4L1 0 genome.wustl.edu 37 2 114257505 114257505 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 114257505 114257505 C T SNP FOXD4L1 ENST00000306507 human ensembl 74_37 +1 known silent c.672 p.H224 0.430 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L1 HGNC ENSG00000184492 77 0 0 90 20 18.1818 GREB1 0 genome.wustl.edu 37 2 11765302 11765302 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 11765302 11765302 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known nonsense c.4170 p.W1390* 0.943 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 228 0 0 192 17 8.13397 DDX18 0 genome.wustl.edu 37 2 118586952 118586952 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 118586952 118586952 T A SNP DDX18 ENST00000263239 human ensembl 74_37 +1 known missense c.1780 p.S594T 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX18 HGNC ENSG00000088205 180 0 0 127 9 6.61765 CCDC93 0 genome.wustl.edu 37 2 118766233 118766233 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 118766233 118766233 A G SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.44 p.V15A 1.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 104 0 0 75 7 8.53659 INSIG2 0 genome.wustl.edu 37 2 118854319 118854319 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 118854319 118854319 A T SNP INSIG2 ENST00000245787 human ensembl 74_37 +1 known missense c.187 p.I63F 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG2 HGNC ENSG00000125629 132 0 0 106 17 13.8211 LPIN1 0 genome.wustl.edu 37 2 11911703 11911703 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 11911703 11911703 A G SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.641 p.D214G 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 33 0 0 21 3 12.5 STEAP3 0 genome.wustl.edu 37 2 120012365 120012365 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 120012365 120012365 G A SNP STEAP3 ENST00000393110 human ensembl 74_37 +1 known missense c.1156 p.V386M 0.905 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP3 HGNC ENSG00000115107 44 0 0 40 5 11.1111 TMEM37 0 genome.wustl.edu 37 2 120194588 120194588 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 120194588 120194588 C T SNP TMEM37 ENST00000306406 human ensembl 74_37 +1 known missense c.145 p.H49Y 0.994 NULL NULL - no_errors TMEM37 HGNC ENSG00000171227 110 0 0 112 8 6.66667 INHBB 0 genome.wustl.edu 37 2 121104185 121104185 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 121104185 121104185 T C SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.421 p.S141P 1.000 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 19 0 0 11 5 31.25 INHBB 0 genome.wustl.edu 37 2 121106966 121106966 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 121106966 121106966 A G SNP INHBB ENST00000295228 human ensembl 74_37 +1 known missense c.740 p.N247S 0.997 pfam_TGF-b_N,prints_Inhibin_betaB pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 104 0 0 110 11 9.09091 GLI2 0 genome.wustl.edu 37 2 121712859 121712859 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 121712859 121712859 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.496 p.L166F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 66 0 0 64 6 8.57143 CLASP1 0 genome.wustl.edu 37 2 122215273 122215273 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 122215273 122215273 C T SNP CLASP1 ENST00000263710 human ensembl 74_37 -1 known missense c.1375 p.A459T 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP1 HGNC ENSG00000074054 91 0 0 68 4 5.55556 CNTNAP5 0 genome.wustl.edu 37 2 125367380 125367380 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 125367380 125367380 A T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1756 p.I586F 0.990 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 60 0 0 64 4 5.88235 CNTNAP5 0 genome.wustl.edu 37 2 125367427 125367427 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 125367427 125367427 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known silent c.1803 p.A601 0.863 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 79 0 0 68 5 6.84932 CNTNAP5 0 genome.wustl.edu 37 2 125530570 125530570 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 125530570 125530570 C T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known nonsense c.2725 p.Q909* 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 164 0 0 99 24 19.5122 IWS1 0 genome.wustl.edu 37 2 128253655 128253655 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 128253655 128253655 C G SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known silent c.1635 p.R545 0.010 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 303 0 0 254 26 9.28571 IWS1 0 genome.wustl.edu 37 2 128263102 128263102 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 128263102 128263102 C A SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.377 p.R126M 0.952 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 153 1 0.649351 146 14 8.75 MYO7B 0 genome.wustl.edu 37 2 128366286 128366286 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 128366286 128366286 C T SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.2647 p.P883S 0.017 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 27 0 0 30 3 9.09091 LIMS2 0 genome.wustl.edu 37 2 128412420 128412420 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 128412420 128412420 C T SNP LIMS2 ENST00000324938 human ensembl 74_37 -1 known silent c.294 p.P98 0.186 pirsf_PINCH,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS2 HGNC ENSG00000072163 31 0 0 30 11 26.8293 WDR33 0 genome.wustl.edu 37 2 128471327 128471327 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 128471327 128471327 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known silent c.3138 p.R1046 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 107 0 0 125 7 5.30303 TRIB2 0 genome.wustl.edu 37 2 12863637 12863637 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 12863637 12863637 G A SNP TRIB2 ENST00000155926 human ensembl 74_37 +1 known silent c.522 p.R174 0.826 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 TRIB2 HGNC ENSG00000071575 85 0 0 80 8 9.09091 SAP130 0 genome.wustl.edu 37 2 128767876 128767876 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 128767876 128767876 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.914 p.T305M 0.995 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 65 0 0 54 7 11.4754 UGGT1 0 genome.wustl.edu 37 2 128930248 128930248 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 128930248 128930248 T C SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.3206 p.L1069P 0.380 pfam_UDP-g_GGtrans pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 113 0 0 89 6 6.31579 SMPD4 0 genome.wustl.edu 37 2 130918776 130918776 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 130918776 130918776 C T SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.1051 p.A351T 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 97 0 0 65 5 7.14286 AMER3 0 genome.wustl.edu 37 2 131520350 131520350 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 131520350 131520350 T G SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.705 p.C235W 0.925 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 89 0 0 80 16 16.6667 GPR39 0 genome.wustl.edu 37 2 133174728 133174728 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 133174728 133174728 T C SNP GPR39 ENST00000329321 human ensembl 74_37 +1 known missense c.113 p.L38P 0.683 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR39 HGNC ENSG00000183840 84 0 0 68 8 10.5263 MGAT5 0 genome.wustl.edu 37 2 135095865 135095865 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 135095865 135095865 T C SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known silent c.681 p.S227 0.989 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 112 0 0 66 6 8.33333 CCNT2 0 genome.wustl.edu 37 2 135711759 135711759 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 135711759 135711759 G A SNP CCNT2 ENST00000264157 human ensembl 74_37 +1 known silent c.1734 p.S578 0.018 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT2 HGNC ENSG00000082258 69 0 0 62 9 12.6761 R3HDM1 0 genome.wustl.edu 37 2 136389319 136389319 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 136389319 136389319 G T SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known nonsense c.529 p.E177* 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 62 0 0 41 8 16.3265 R3HDM1 0 genome.wustl.edu 37 2 136437848 136437848 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 136437848 136437848 C T SNP R3HDM1 ENST00000264160 human ensembl 74_37 +1 known missense c.2308 p.P770S 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC ENSG00000048991 116 0 0 99 10 9.17431 SPOPL 0 genome.wustl.edu 37 2 139308136 139308136 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 139308136 139308136 T C SNP SPOPL ENST00000280098 human ensembl 74_37 +1 known silent c.162 p.S54 1.000 pfam_MATH,superfamily_TRAF-like,smart_MATH,pfscan_MATH pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOPL HGNC ENSG00000144228 175 0 0 88 35 28.4553 NXPH2 0 genome.wustl.edu 37 2 139429149 139429149 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 139429149 139429149 G A SNP NXPH2 ENST00000272641 human ensembl 74_37 -1 known silent c.138 p.N46 0.975 pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC ENSG00000144227 124 0 0 120 11 8.39695 LRP1B 0 genome.wustl.edu 37 2 140990805 140990805 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 140990805 140990805 C A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known nonsense c.13750 p.E4584* 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 71 0 0 48 8 14.2857 LRP1B 0 genome.wustl.edu 37 2 141665468 141665468 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 141665468 141665468 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.3498 p.G1166 0.997 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 235 0 0 171 15 8.06452 TPO 0 genome.wustl.edu 37 2 1437321 1437321 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 1437321 1437321 A G SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.291 p.S97 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 86 0 0 47 15 24.1935 ARHGAP15 0 genome.wustl.edu 37 2 144244959 144244959 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 144244959 144244959 A T SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.721 p.S241C 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 191 0 0 121 11 8.33333 ZEB2 0 genome.wustl.edu 37 2 145156756 145156756 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 145156756 145156756 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known silent c.1998 p.N666 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 148 0 0 98 30 23.4375 ZEB2 0 genome.wustl.edu 37 2 145157213 145157213 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 145157213 145157213 G A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.1541 p.P514L 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 89 0 0 62 23 27.0588 MBD5 0 genome.wustl.edu 37 2 149247137 149247137 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 149247137 149247137 C T SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known silent c.3237 p.G1079 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 95 0 0 70 7 9.09091 MBD5 0 genome.wustl.edu 37 2 149247533 149247533 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 149247533 149247533 G A SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known silent c.3633 p.K1211 0.172 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 144 0 0 113 9 7.37705 RND3 0 genome.wustl.edu 37 2 151326555 151326555 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 151326555 151326555 C T SNP RND3 ENST00000263895 human ensembl 74_37 -1 known silent c.681 p.S227 0.004 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 123 0 0 80 7 8.04598 RIF1 0 genome.wustl.edu 37 2 152330503 152330503 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152330503 152330503 T C SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.7121 p.I2374T 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 140 0 0 86 8 8.51064 NEB 0 genome.wustl.edu 37 2 152382735 152382735 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152382735 152382735 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.21987 p.C7329 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 36 0 0 28 4 12.5 NEB 0 genome.wustl.edu 37 2 152410411 152410411 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152410411 152410411 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.19557 p.H6519 0.991 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 124 0 0 72 19 20.8791 NEB 0 genome.wustl.edu 37 2 152472522 152472522 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152472522 152472522 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.11283 p.A3761 0.978 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 50 0 0 29 5 14.7059 NEB 0 genome.wustl.edu 37 2 152483715 152483715 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152483715 152483715 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.10148 p.I3383T 0.031 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 81 0 0 49 3 5.76923 NEB 0 genome.wustl.edu 37 2 152496962 152496962 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152496962 152496962 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.8592 p.D2864 0.007 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 282 0 0 225 26 10.3586 NEB 0 genome.wustl.edu 37 2 152496986 152496986 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152496986 152496986 C G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.8568 p.K2856N 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 318 0 0 264 23 8.01394 NEB 0 genome.wustl.edu 37 2 152496994 152496994 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152496994 152496994 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.8560 p.L2854 0.989 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 324 0 0 263 23 8.04196 NEB 0 genome.wustl.edu 37 2 152497096 152497096 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152497096 152497096 A T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.8458 p.S2820T 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 265 0 0 234 25 9.65251 NEB 0 genome.wustl.edu 37 2 152506866 152506866 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152506866 152506866 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.7255 p.L2419M 1.000 pfam_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 113 0 0 75 6 7.40741 NEB 0 genome.wustl.edu 37 2 152522861 152522861 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152522861 152522861 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.4774 p.S1592G 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 130 0 0 119 9 7.03125 NEB 0 genome.wustl.edu 37 2 152536326 152536326 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152536326 152536326 T C SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.3164 p.D1055G 1.000 superfamily_Adhesion_dom,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 115 0 0 73 8 9.87654 FMNL2 0 genome.wustl.edu 37 2 153378496 153378496 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 153378496 153378496 C T SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.157 p.R53W 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 99 0 0 67 14 17.284 FMNL2 0 genome.wustl.edu 37 2 153475388 153475388 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 153475388 153475388 T C SNP FMNL2 ENST00000288670 human ensembl 74_37 +1 known missense c.1343 p.V448A 1.000 pfam_FH3_dom,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour - no_errors FMNL2 HGNC ENSG00000157827 70 0 0 58 7 10.7692 RPRM 0 genome.wustl.edu 37 2 154334890 154334890 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 154334890 154334890 C T SNP RPRM ENST00000325926 human ensembl 74_37 -1 known missense c.190 p.V64M 1.000 NULL NULL - no_errors RPRM HGNC ENSG00000177519 33 0 0 19 4 17.3913 GALNT13 0 genome.wustl.edu 37 2 155098640 155098640 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 155098640 155098640 A G SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.409 p.S137G 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 84 0 0 58 4 6.45161 NR4A2 0 genome.wustl.edu 37 2 157186496 157186496 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 157186496 157186496 C A SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.236 p.S79I 1.000 prints_NURR_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 113 0 0 74 25 25.2525 GPD2 0 genome.wustl.edu 37 2 157369851 157369851 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 157369851 157369851 G A SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known nonsense c.504 p.W168* 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 113 0 0 106 11 9.40171 GPD2 0 genome.wustl.edu 37 2 157425912 157425912 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 157425912 157425912 T A SNP GPD2 ENST00000310454 human ensembl 74_37 +1 known missense c.1338 p.D446E 0.977 NULL pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_G3P_DH_FAD-dep - no_errors GPD2 HGNC ENSG00000115159 75 0 0 60 7 10.4478 DDX1 0 genome.wustl.edu 37 2 15769774 15769774 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 15769774 15769774 A G SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.1924 p.R642G 0.996 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 66 0 0 62 4 6.06061 ACVR1C 0 genome.wustl.edu 37 2 158406865 158406865 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 158406865 158406865 A G SNP ACVR1C ENST00000243349 human ensembl 74_37 -1 known missense c.584 p.I195T 1.000 superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1C HGNC ENSG00000123612 141 0 0 117 17 12.6866 UPP2 0 genome.wustl.edu 37 2 158971666 158971666 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 158971666 158971666 G A SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known missense c.405 p.M135I 0.997 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 123 0 0 105 8 7.07965 PKP4 0 genome.wustl.edu 37 2 159517928 159517928 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 159517928 159517928 A G SNP PKP4 ENST00000389759 human ensembl 74_37 +1 known missense c.2177 p.H726R 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP4 HGNC ENSG00000144283 59 0 0 54 5 8.47458 TANC1 0 genome.wustl.edu 37 2 160050845 160050845 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 160050845 160050845 C T SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known silent c.2820 p.C940 0.696 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 65 0 0 59 18 23.3766 TANC1 0 genome.wustl.edu 37 2 160050927 160050927 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 160050927 160050927 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.2902 p.G968S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 59 0 0 46 4 8 BAZ2B 0 genome.wustl.edu 37 2 160289417 160289417 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 160289417 160289417 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.1751 p.A584V 0.996 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 155 0 0 132 16 10.8108 TANK 0 genome.wustl.edu 37 2 162087958 162087958 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 162087958 162087958 G A SNP TANK ENST00000259075 human ensembl 74_37 +1 known missense c.997 p.D333N 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 124 0 0 89 9 9.18367 TBR1 0 genome.wustl.edu 37 2 162279997 162279997 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 162279997 162279997 C T SNP TBR1 ENST00000389554 human ensembl 74_37 +1 known silent c.1308 p.F436 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 18 0 0 19 3 13.6364 DPP4 0 genome.wustl.edu 37 2 162875293 162875293 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 162875293 162875293 A G SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.1366 p.Y456H 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 133 0 0 100 6 5.66038 FIGN 0 genome.wustl.edu 37 2 164466724 164466724 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 164466724 164466724 C T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1618 p.A540T 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 66 0 0 71 14 16.4706 PXDN 0 genome.wustl.edu 37 2 1652818 1652818 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 1652818 1652818 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.2734 p.A912T 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 39 0 0 38 3 7.31707 COBLL1 0 genome.wustl.edu 37 2 165551250 165551250 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 165551250 165551250 A G SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known silent c.2967 p.A989 1.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 79 0 0 48 6 11.1111 SLC38A11 0 genome.wustl.edu 37 2 165768194 165768194 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 165768194 165768194 A G SNP SLC38A11 ENST00000409149 human ensembl 74_37 -1 known silent c.747 p.G249 0.010 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A11 HGNC ENSG00000169507 43 0 0 24 6 20 SCN3A 0 genome.wustl.edu 37 2 165997314 165997314 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 165997314 165997314 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known silent c.1866 p.N622 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 70 0 0 63 9 12.5 SCN2A 0 genome.wustl.edu 37 2 166152539 166152539 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166152539 166152539 T C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.206 p.I69T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 72 0 0 63 4 5.97015 SCN2A 0 genome.wustl.edu 37 2 166168564 166168564 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166168564 166168564 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1000 p.D334N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 54 0 0 27 5 15.625 SCN2A 0 genome.wustl.edu 37 2 166179742 166179742 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166179742 166179742 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.1748 p.R583Q 0.997 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 94 0 0 70 5 6.66667 SCN2A 0 genome.wustl.edu 37 2 166231207 166231207 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166231207 166231207 G A SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.3985 p.A1329T 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 161 0 0 106 14 11.6667 TTC21B 0 genome.wustl.edu 37 2 166786211 166786211 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166786211 166786211 A T SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.1134 p.D378E 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 73 0 0 57 5 8.06452 TTC21B 0 genome.wustl.edu 37 2 166802129 166802129 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166802129 166802129 A C SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.334 p.Y112D 1.000 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 73 0 0 74 4 5.12821 SCN1A 0 genome.wustl.edu 37 2 166848920 166848920 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166848920 166848920 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.4865 p.A1622V 1.000 pfam_Ion_trans_dom,prints_PKD_2 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 96 0 0 63 11 14.8649 SCN9A 0 genome.wustl.edu 37 2 167133605 167133605 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 167133605 167133605 A T SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.2765 p.F922Y 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 210 0 0 161 16 9.03955 XIRP2 0 genome.wustl.edu 37 2 168104512 168104512 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 168104512 168104512 A G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.6610 p.I2204V 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 62 0 0 50 6 10.7143 CERS6 0 genome.wustl.edu 37 2 169313062 169313062 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 169313062 169313062 C T SNP CERS6 ENST00000392687 human ensembl 74_37 +1 known missense c.104 p.A35V 1.000 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS6 HGNC ENSG00000172292 61 0 0 56 6 9.67742 ABCB11 0 genome.wustl.edu 37 2 169792759 169792759 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 169792759 169792759 G A SNP ABCB11 ENST00000263817 human ensembl 74_37 -1 known missense c.2795 p.A932V 0.686 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB11 HGNC ENSG00000073734 56 0 0 29 5 14.7059 DHRS9 0 genome.wustl.edu 37 2 169939959 169939959 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 169939959 169939959 C G SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known missense c.614 p.T205R 1.000 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 110 0 0 90 11 10.8911 DHRS9 0 genome.wustl.edu 37 2 169940033 169940033 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 169940033 169940033 G A SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known missense c.688 p.A230T 0.928 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 76 0 0 60 4 6.25 LRP2 0 genome.wustl.edu 37 2 170012784 170012784 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 170012784 170012784 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.12151 p.G4051C 1.000 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 114 1 0.869565 109 12 9.91736 LRP2 0 genome.wustl.edu 37 2 170034315 170034315 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 170034315 170034315 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.10391 p.I3464T 0.192 superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 262 0 0 231 22 8.69565 LRP2 0 genome.wustl.edu 37 2 170066149 170066149 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 170066149 170066149 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known nonsense c.6283 p.R2095* 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 39 0 0 31 5 13.8889 LRP2 0 genome.wustl.edu 37 2 170097855 170097855 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 170097855 170097855 A G SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.3688 p.C1230R 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 150 0 0 159 12 7.01754 LRP2 0 genome.wustl.edu 37 2 170115570 170115570 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 170115570 170115570 A C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.2478 p.N826K 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 139 0 0 99 7 6.60377 LRP2 0 genome.wustl.edu 37 2 170135946 170135946 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 170135946 170135946 G A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.1501 p.R501W 0.559 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 170 0 0 129 30 18.8679 PPIG 0 genome.wustl.edu 37 2 170489776 170489776 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 170489776 170489776 A G SNP PPIG ENST00000462903 human ensembl 74_37 +1 putative missense c.1036 p.R346G 0.052 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 54 0 0 31 4 11.4286 MYO3B 0 genome.wustl.edu 37 2 171256774 171256774 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 171256774 171256774 A G SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.1895 p.Q632R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 170 0 0 125 41 24.6988 GAD1 0 genome.wustl.edu 37 2 171702573 171702573 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 171702573 171702573 G T SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known missense c.1002 p.K334N 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 98 0 0 64 7 9.85915 DCAF17 0 genome.wustl.edu 37 2 172330389 172330389 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 172330389 172330389 T A SNP DCAF17 ENST00000375255 human ensembl 74_37 +1 known missense c.995 p.I332N 1.000 NULL NULL - no_errors DCAF17 HGNC ENSG00000115827 47 0 0 33 5 13.1579 PDK1 0 genome.wustl.edu 37 2 173457701 173457701 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 173457701 173457701 C T SNP PDK1 ENST00000282077 human ensembl 74_37 +1 known silent c.1095 p.Y365 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core 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 PDK1 HGNC ENSG00000152256 152 0 0 96 28 22.5806 RAPGEF4 0 genome.wustl.edu 37 2 173891823 173891823 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 173891823 173891823 T A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known nonsense c.2394 p.Y798* 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 118 0 0 79 10 11.236 ZAK 0 genome.wustl.edu 37 2 174130855 174130855 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 174130855 174130855 A G SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.1780 p.N594D 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 23 0 0 18 5 21.7391 ZAK 0 genome.wustl.edu 37 2 174131092 174131092 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 174131092 174131092 T A SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.2017 p.Y673N 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 110 0 0 99 11 10 CDCA7 0 genome.wustl.edu 37 2 174229673 174229673 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 174229673 174229673 T C SNP CDCA7 ENST00000306721 human ensembl 74_37 +1 known missense c.850 p.Y284H 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7 HGNC ENSG00000144354 68 0 0 46 8 14.8148 CIR1 0 genome.wustl.edu 37 2 175246441 175246441 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 175246441 175246441 C A SNP CIR1 ENST00000342016 human ensembl 74_37 -1 known missense c.232 p.A78S 1.000 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 455 0 0 307 18 5.53846 CHN1 0 genome.wustl.edu 37 2 175676303 175676303 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 175676303 175676303 T C SNP CHN1 ENST00000409900 human ensembl 74_37 -1 known silent c.900 p.E300 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC ENSG00000128656 52 0 0 31 3 8.82353 ATP5G3 0 genome.wustl.edu 37 2 176046086 176046086 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 176046086 176046086 A T SNP ATP5G3 ENST00000284727 human ensembl 74_37 -1 known silent c.36 p.S12 0.998 NULL pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_F0-cplx_csu - no_errors ATP5G3 HGNC ENSG00000154518 31 0 0 29 8 21.6216 RAD51AP2 0 genome.wustl.edu 37 2 17697217 17697217 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 17697217 17697217 A G SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known silent c.2466 p.S822 0.759 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 96 0 0 76 7 8.43373 HOXD8 0 genome.wustl.edu 37 2 176995452 176995452 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 176995452 176995452 C G SNP HOXD8 ENST00000313173 human ensembl 74_37 +1 known missense c.358 p.P120A 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 141 0 0 116 11 8.66142 MTX2 0 genome.wustl.edu 37 2 177202275 177202275 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 177202275 177202275 A G SNP MTX2 ENST00000249442 human ensembl 74_37 +1 known silent c.675 p.T225 0.716 superfamily_Glutathione-S-Trfase_C-like pfam_Sam37/metaxin,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors MTX2 HGNC ENSG00000128654 222 0 0 157 13 7.64706 TTC30B 0 genome.wustl.edu 37 2 178415951 178415951 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 178415951 178415951 T C SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.1541 p.N514S 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 241 0 0 174 17 8.90052 TTC30B 0 genome.wustl.edu 37 2 178416839 178416839 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 178416839 178416839 C T SNP TTC30B ENST00000408939 human ensembl 74_37 -1 known missense c.653 p.G218D 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC30B HGNC ENSG00000196659 68 0 0 58 5 7.93651 SMC6 0 genome.wustl.edu 37 2 17898096 17898096 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 17898096 17898096 A G SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.1336 p.F446L 0.105 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 136 0 0 90 8 8.16327 OSBPL6 0 genome.wustl.edu 37 2 179201135 179201135 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179201135 179201135 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known silent c.702 p.S234 0.020 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 190 0 0 159 18 10.1695 DFNB59 0 genome.wustl.edu 37 2 179325710 179325710 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179325710 179325710 T C SNP DFNB59 ENST00000375129 human ensembl 74_37 +1 known silent c.768 p.N256 0.887 NULL pfam_Gasdermin - no_errors DFNB59 HGNC ENSG00000204311 170 0 0 123 11 8.20896 FKBP7 0 genome.wustl.edu 37 2 179334426 179334426 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179334426 179334426 A T SNP FKBP7 ENST00000424785 human ensembl 74_37 -1 known missense c.460 p.F154I 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC ENSG00000079150 191 0 0 133 13 8.90411 TTN 0 genome.wustl.edu 37 2 179393421 179393421 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179393421 179393421 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.99353 p.V33118A 0.993 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 45 0 0 26 3 10.3448 TTN 0 genome.wustl.edu 37 2 179395728 179395728 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179395728 179395728 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.97910 p.N32637S 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 375 0 0 320 18 5.32544 TTN 0 genome.wustl.edu 37 2 179402473 179402473 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179402473 179402473 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.91757 p.R30586H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 86 0 0 69 6 8 TTN 0 genome.wustl.edu 37 2 179412969 179412969 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179412969 179412969 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.85680 p.S28560 1.000 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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 224 1 0.444444 178 18 9.18367 TTN 0 genome.wustl.edu 37 2 179414486 179414486 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179414486 179414486 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.84259 p.Y28087H 1.000 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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 96 0 0 71 24 25.2632 TTN 0 genome.wustl.edu 37 2 179414849 179414849 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179414849 179414849 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.84012 p.N28004 0.991 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 284 0 0 193 24 11.0599 TTN 0 genome.wustl.edu 37 2 179414978 179414978 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179414978 179414978 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.83883 p.G27961 0.987 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 132 0 0 110 13 10.5691 TTN 0 genome.wustl.edu 37 2 179415883 179415883 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179415883 179415883 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.83671 p.I27891V 1.000 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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 72 0 0 49 10 16.9492 TTN 0 genome.wustl.edu 37 2 179417047 179417047 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179417047 179417047 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.82876 p.A27626T 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 116 0 0 96 7 6.79612 TTN 0 genome.wustl.edu 37 2 179418786 179418786 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179418786 179418786 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.81348 p.L27116 0.005 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 230 0 0 194 14 6.73077 TTN 0 genome.wustl.edu 37 2 179425685 179425685 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179425685 179425685 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.77470 p.A25824T 0.998 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 136 0 0 108 10 8.47458 TTN 0 genome.wustl.edu 37 2 179429031 179429031 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179429031 179429031 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.74124 p.S24708 0.195 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 167 0 0 133 15 10.1351 TTN 0 genome.wustl.edu 37 2 179432851 179432851 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179432851 179432851 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.70304 p.S23435F 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 119 0 0 132 7 5.03597 TTN 0 genome.wustl.edu 37 2 179437140 179437140 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179437140 179437140 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.66015 p.C22005 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 83 0 0 76 8 9.52381 TTN 0 genome.wustl.edu 37 2 179437289 179437289 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179437289 179437289 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.65866 p.Q21956* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 103 0 0 98 9 8.41121 TTN 0 genome.wustl.edu 37 2 179442036 179442036 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179442036 179442036 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.61322 p.Y20441C 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 91 0 0 66 9 12 TTN 0 genome.wustl.edu 37 2 179447037 179447037 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179447037 179447037 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.58442 p.A19481D 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 80 0 0 56 5 8.19672 TTN 0 genome.wustl.edu 37 2 179456053 179456053 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179456053 179456053 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.52695 p.S17565 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 499 0 0 361 43 10.6436 TTN 0 genome.wustl.edu 37 2 179456447 179456447 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179456447 179456447 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.52395 p.L17465 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 223 0 0 188 10 5.05051 TTN 0 genome.wustl.edu 37 2 179457902 179457902 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179457902 179457902 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.51329 p.I17110T 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 138 0 0 109 12 9.91736 TTN 0 genome.wustl.edu 37 2 179462392 179462392 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179462392 179462392 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.49713 p.I16571 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 140 0 0 92 12 11.5385 TTN 0 genome.wustl.edu 37 2 179463262 179463262 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179463262 179463262 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.49378 p.K16460E 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 82 0 0 61 13 17.5676 TTN 0 genome.wustl.edu 37 2 179463329 179463329 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179463329 179463329 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.49311 p.A16437 0.688 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 59 0 0 50 5 9.09091 TTN 0 genome.wustl.edu 37 2 179464134 179464134 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179464134 179464134 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.48682 p.S16228P 1.000 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_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 78 0 0 63 13 17.1053 TTN-AS1 0 genome.wustl.edu 37 2 179469685 179469685 + RNA SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179469685 179469685 T G SNP TTN-AS1 ENST00000419746 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 164 0 0 113 35 23.6486 TTN 0 genome.wustl.edu 37 2 179495630 179495630 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179495630 179495630 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.36351 p.E12117D 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 115 1 0.862069 89 7 7.29167 TTN 0 genome.wustl.edu 37 2 179495656 179495656 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179495656 179495656 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.36325 p.L12109 0.997 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 84 0 0 61 24 28.2353 TTN 0 genome.wustl.edu 37 2 179517022 179517022 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179517022 179517022 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.31878 p.P10626 0.431 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 419 0 0 310 23 6.90691 TTN 0 genome.wustl.edu 37 2 179542934 179542934 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179542934 179542934 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.30180 p.V10060 0.998 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 178 0 0 113 8 6.61157 TTN 0 genome.wustl.edu 37 2 179544994 179544994 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179544994 179544994 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.29673 p.A9891 0.366 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 248 0 0 185 14 7.03518 TTN 0 genome.wustl.edu 37 2 179547450 179547450 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179547450 179547450 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29336 p.Y9779S 0.256 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 266 0 0 211 16 7.04846 TTN 0 genome.wustl.edu 37 2 179554557 179554557 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179554557 179554557 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28097 p.E9366G 0.981 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 259 0 0 185 12 6.09137 TTN 0 genome.wustl.edu 37 2 179571293 179571293 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179571293 179571293 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.25576 p.R8526* 0.949 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 221 0 0 138 41 22.905 TTN 0 genome.wustl.edu 37 2 179577959 179577959 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179577959 179577959 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.23170 p.S7724G 0.994 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 42 0 0 35 3 7.89474 TTN 0 genome.wustl.edu 37 2 179578862 179578862 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179578862 179578862 A T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.22791 p.V7597 0.985 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 68 0 0 59 7 10.6061 TTN 0 genome.wustl.edu 37 2 179578874 179578874 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179578874 179578874 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.22779 p.E7593 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 80 0 0 51 20 28.169 TTN 0 genome.wustl.edu 37 2 179589031 179589031 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179589031 179589031 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.17339 p.N5780T 1.000 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 69 0 0 56 9 13.8462 TTN 0 genome.wustl.edu 37 2 179592343 179592343 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179592343 179592343 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.16230 p.S5410 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 308 0 0 222 15 6.32911 TTN 0 genome.wustl.edu 37 2 179594254 179594254 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179594254 179594254 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14897 p.V4966A 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 118 0 0 92 18 16.3636 TTN 0 genome.wustl.edu 37 2 179594596 179594596 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179594596 179594596 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.14652 p.Q4884 0.963 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 66 0 0 57 3 5 TTN 0 genome.wustl.edu 37 2 179595492 179595492 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179595492 179595492 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.14036 p.K4679R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 146 0 0 93 6 6.06061 TTN-AS1 0 genome.wustl.edu 37 2 179597786 179597786 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179597786 179597786 T C SNP TTN-AS1 ENST00000582847 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 55 0 0 38 7 15.5556 TTN 0 genome.wustl.edu 37 2 179600589 179600589 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179600589 179600589 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10852 p.R3618G 0.996 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 100 1 0.990099 82 9 9.89011 TTN 0 genome.wustl.edu 37 2 179610654 179610654 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179610654 179610654 C A SNP TTN ENST00000360870 human ensembl 74_37 -1 known missense c.16473 p.M5491I 0.133 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 121 0 0 103 6 5.50459 TTN 0 genome.wustl.edu 37 2 179616245 179616245 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179616245 179616245 C A SNP TTN ENST00000360870 human ensembl 74_37 -1 known nonsense c.10882 p.E3628* 0.780 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 212 0 0 171 11 6.04396 TTN 0 genome.wustl.edu 37 2 179621295 179621295 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179621295 179621295 T C SNP TTN ENST00000342175 human ensembl 74_37 -1 known silent c.10395 p.A3465 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 108 0 0 79 8 9.1954 GEN1 0 genome.wustl.edu 37 2 17962934 17962934 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 17962934 17962934 A G SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.2455 p.R819G 0.007 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 69 0 0 45 14 23.7288 GEN1 0 genome.wustl.edu 37 2 17962986 17962986 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 17962986 17962986 G T SNP GEN1 ENST00000317402 human ensembl 74_37 +1 known missense c.2507 p.G836V 0.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors GEN1 HGNC ENSG00000178295 71 0 0 32 5 13.5135 TTN 0 genome.wustl.edu 37 2 179642221 179642221 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179642221 179642221 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.4571 p.D1524V 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 63 0 0 51 6 10.5263 CCDC141 0 genome.wustl.edu 37 2 179710393 179710393 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179710393 179710393 G C SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.3434 p.A1145G 0.001 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 49 0 0 23 6 20.6897 CCDC141 0 genome.wustl.edu 37 2 179730575 179730575 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179730575 179730575 C T SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known silent c.2643 p.K881 0.167 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 356 0 0 303 28 8.45921 SESTD1 0 genome.wustl.edu 37 2 179982318 179982318 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179982318 179982318 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known nonsense c.1465 p.R489* 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 115 0 0 66 15 18.5185 CWC22 0 genome.wustl.edu 37 2 180815294 180815294 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 180815294 180815294 C A SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.2085 p.E695D 0.355 NULL 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 58 0 0 49 5 9.25926 KCNS3 0 genome.wustl.edu 37 2 18112978 18112978 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 18112978 18112978 G A SNP KCNS3 ENST00000304101 human ensembl 74_37 +1 known missense c.703 p.G235R 0.043 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS3 HGNC ENSG00000170745 129 0 0 85 30 26.087 ITGA4 0 genome.wustl.edu 37 2 182394352 182394352 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 182394352 182394352 C T SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known silent c.2515 p.L839 0.899 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 100 0 0 65 11 14.4737 CERKL 0 genome.wustl.edu 37 2 182412405 182412405 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 182412405 182412405 C T SNP CERKL ENST00000339098 human ensembl 74_37 -1 known missense c.1286 p.S429N 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom - no_errors CERKL HGNC ENSG00000188452 132 0 0 115 15 11.5385 NEUROD1 0 genome.wustl.edu 37 2 182543447 182543447 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 182543447 182543447 G A SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.141 p.N47 0.008 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 17 0 0 19 6 24 PDE1A 0 genome.wustl.edu 37 2 183094743 183094743 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 183094743 183094743 G A SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.713 p.T238I 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 130 0 0 74 19 20.4301 NCKAP1 0 genome.wustl.edu 37 2 183848065 183848065 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 183848065 183848065 C T SNP NCKAP1 ENST00000360982 human ensembl 74_37 -1 known silent c.1068 p.L356 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 90 0 0 58 6 9.375 ZNF804A 0 genome.wustl.edu 37 2 185463792 185463792 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 185463792 185463792 A G SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.106 p.T36A 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 54 0 0 53 3 5.35714 ZNF804A 0 genome.wustl.edu 37 2 185800760 185800760 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 185800760 185800760 G A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.637 p.G213S 0.999 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 105 0 0 78 8 9.30233 FSIP2 0 genome.wustl.edu 37 2 186670650 186670650 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 186670650 186670650 T A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.16884 p.V5628 0.001 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 106 0 0 68 7 9.33333 FSIP2 0 genome.wustl.edu 37 2 186671431 186671431 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 186671431 186671431 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.17665 p.F5889L 0.922 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 68 0 0 49 5 9.25926 FAM171B 0 genome.wustl.edu 37 2 187604970 187604970 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 187604970 187604970 T C SNP FAM171B ENST00000304698 human ensembl 74_37 +1 known missense c.254 p.L85S 1.000 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 50 0 0 51 3 5.55556 ZSWIM2 0 genome.wustl.edu 37 2 187693278 187693278 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 187693278 187693278 A G SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known silent c.1335 p.P445 0.018 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 96 0 0 61 7 10.2941 COL5A2 0 genome.wustl.edu 37 2 189933518 189933518 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 189933518 189933518 A G SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known silent c.1251 p.G417 0.923 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 62 0 0 47 6 11.3208 COL5A2 0 genome.wustl.edu 37 2 189948739 189948739 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 189948739 189948739 G A SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.823 p.P275S 0.997 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL5A2 HGNC ENSG00000204262 78 0 0 57 6 9.52381 ORMDL1 0 genome.wustl.edu 37 2 190647275 190647275 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 190647275 190647275 A G SNP ORMDL1 ENST00000325795 human ensembl 74_37 -1 known missense c.47 p.V16A 1.000 pfam_ORMDL,pirsf_ORMDL pfam_ORMDL,pirsf_ORMDL - no_errors ORMDL1 HGNC ENSG00000128699 114 0 0 87 5 5.43478 MSTN 0 genome.wustl.edu 37 2 190927276 190927276 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 190927276 190927276 A G SNP MSTN ENST00000260950 human ensembl 74_37 -1 known missense c.47 p.I16T 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors MSTN HGNC ENSG00000138379 134 0 0 94 8 7.84314 NAB1 0 genome.wustl.edu 37 2 191524184 191524184 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 191524184 191524184 A G SNP NAB1 ENST00000337386 human ensembl 74_37 +1 known missense c.282 p.I94M 0.995 NULL pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB1 HGNC ENSG00000138386 70 0 0 57 5 8.06452 NAB1 0 genome.wustl.edu 37 2 191524446 191524446 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 191524446 191524446 G A SNP NAB1 ENST00000337386 human ensembl 74_37 +1 known missense c.544 p.A182T 0.975 pfam_NAB_co-repressor_dom pfam_Nab1_C,pfam_NAB_co-repressor_dom,pfam_Nab_N,superfamily_SAM/pointed - no_errors NAB1 HGNC ENSG00000138386 25 0 0 26 2 7.14286 GLS 0 genome.wustl.edu 37 2 191792056 191792056 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 191792056 191792056 G A SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.1273 p.E425K 1.000 pfam_Glutaminase,superfamily_Beta-lactam/transpept-like,tigrfam_Glutaminase pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 101 0 0 68 5 6.84932 GLS 0 genome.wustl.edu 37 2 191796330 191796330 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 191796330 191796330 A T SNP GLS ENST00000320717 human ensembl 74_37 +1 known missense c.1617 p.K539N 1.000 NULL pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase - no_errors GLS HGNC ENSG00000115419 96 0 0 52 5 8.77193 GLS 0 genome.wustl.edu 37 2 191819388 191819388 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 191819388 191819388 T C SNP GLS ENST00000320717 human ensembl 74_37 +1 known splice_site c.1789+2 e16+2 1.000 - - - no_errors GLS HGNC ENSG00000115419 77 0 0 63 8 11.2676 STAT1 0 genome.wustl.edu 37 2 191863025 191863025 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 191863025 191863025 G A SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.551 p.T184I 0.919 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 134 0 0 83 19 18.6275 STAT4 0 genome.wustl.edu 37 2 191937856 191937856 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 191937856 191937856 G A SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.433 p.H145Y 0.991 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 313 0 0 221 28 11.245 STAT4 0 genome.wustl.edu 37 2 192011389 192011389 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 192011389 192011389 T C SNP STAT4 ENST00000358470 human ensembl 74_37 -1 known missense c.223 p.K75E 1.000 pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC ENSG00000138378 62 0 0 43 4 8.51064 MYO1B 0 genome.wustl.edu 37 2 192255027 192255027 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 192255027 192255027 A C SNP MYO1B ENST00000304164 human ensembl 74_37 +1 known missense c.1791 p.K597N 0.993 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1B HGNC ENSG00000128641 82 0 0 70 6 7.89474 SDPR 0 genome.wustl.edu 37 2 192700777 192700777 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 192700777 192700777 A T SNP SDPR ENST00000304141 human ensembl 74_37 -1 known missense c.1150 p.S384T 0.004 NULL NULL - no_errors SDPR HGNC ENSG00000168497 136 0 0 112 12 9.67742 SLC39A10 0 genome.wustl.edu 37 2 196573391 196573391 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 196573391 196573391 A G SNP SLC39A10 ENST00000359634 human ensembl 74_37 +1 known silent c.1398 p.G466 0.995 pfam_ZIP pfam_ZIP - no_errors SLC39A10 HGNC ENSG00000196950 62 0 0 41 3 6.81818 DNAH7 0 genome.wustl.edu 37 2 196671554 196671554 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 196671554 196671554 T C SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.10086 p.E3362 0.269 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 53 0 0 51 3 5.55556 DNAH7 0 genome.wustl.edu 37 2 196759893 196759893 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 196759893 196759893 T A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.4703 p.D1568V 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 77 0 0 44 5 10.2041 DNAH7 0 genome.wustl.edu 37 2 196883924 196883924 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 196883924 196883924 G A SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.839 p.A280V 0.974 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 138 0 0 95 9 8.65385 STK17B 0 genome.wustl.edu 37 2 197004488 197004488 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197004488 197004488 T C SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.692 p.H231R 0.995 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 STK17B HGNC ENSG00000081320 191 0 0 108 8 6.89655 STK17B 0 genome.wustl.edu 37 2 197010665 197010665 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197010665 197010665 A C SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.450 p.H150Q 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 STK17B HGNC ENSG00000081320 43 0 0 33 5 13.1579 HECW2 0 genome.wustl.edu 37 2 197080627 197080627 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197080627 197080627 G A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known silent c.4569 p.F1523 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 104 0 0 87 8 8.42105 HECW2 0 genome.wustl.edu 37 2 197183892 197183892 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197183892 197183892 A T SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known missense c.1722 p.D574E 0.917 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 58 0 0 60 6 9.09091 CCDC150 0 genome.wustl.edu 37 2 197584353 197584353 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197584353 197584353 C T SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known missense c.2128 p.R710W 0.998 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 47 0 0 32 12 27.2727 GTF3C3 0 genome.wustl.edu 37 2 197634713 197634713 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197634713 197634713 A C SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.2311 p.F771V 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 106 0 0 57 8 12.3077 GTF3C3 0 genome.wustl.edu 37 2 197634743 197634743 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197634743 197634743 G A SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known missense c.2281 p.R761C 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 109 0 0 51 11 17.7419 PGAP1 0 genome.wustl.edu 37 2 197767343 197767343 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197767343 197767343 T C SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.773 p.K258R 0.977 pfam_PGAP1-like pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 102 0 0 65 8 10.9589 ANKRD44 0 genome.wustl.edu 37 2 197878384 197878384 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197878384 197878384 T C SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known missense c.1700 p.D567G 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 221 2 0.896861 181 13 6.70103 SF3B1 0 genome.wustl.edu 37 2 198273121 198273121 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 198273121 198273121 T C SNP SF3B1 ENST00000335508 human ensembl 74_37 -1 known silent c.1089 p.P363 1.000 pfam_SF3b_su1 pfam_SF3b_su1,superfamily_ARM-type_fold - no_errors SF3B1 HGNC ENSG00000115524 131 0 0 116 7 5.69106 HSPD1 0 genome.wustl.edu 37 2 198361971 198361971 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 198361971 198361971 T G SNP HSPD1 ENST00000345042 human ensembl 74_37 -1 known missense c.320 p.E107A 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 pfam_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,prints_Chaperone_TCP-1,tigrfam_Chaprnin_Cpn60 - no_errors HSPD1 HGNC ENSG00000144381 116 0 0 102 8 7.27273 SPATS2L 0 genome.wustl.edu 37 2 201337675 201337675 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 201337675 201337675 A G SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.1271 p.H424R 0.996 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 68 0 0 52 4 7.14286 BZW1 0 genome.wustl.edu 37 2 201685984 201685984 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 201685984 201685984 A C SNP BZW1 ENST00000409600 human ensembl 74_37 +1 known missense c.1184 p.E395A 1.000 pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain - no_errors BZW1 HGNC ENSG00000082153 156 0 0 103 16 13.4454 CLK1 0 genome.wustl.edu 37 2 201726528 201726528 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 201726528 201726528 C A SNP CLK1 ENST00000321356 human ensembl 74_37 -1 known nonsense c.58 p.G20* 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 CLK1 HGNC ENSG00000013441 139 1 0.714286 132 8 5.71429 PPIL3 0 genome.wustl.edu 37 2 201736019 201736019 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 201736019 201736019 G T SNP PPIL3 ENST00000465823 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors PPIL3 HGNC ENSG00000240344 47 0 0 19 6 24 CASP10 0 genome.wustl.edu 37 2 202050789 202050789 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 202050789 202050789 T C SNP CASP10 ENST00000286186 human ensembl 74_37 +1 known missense c.289 p.C97R 0.008 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_Pept_C14_caspase,pfam_DED,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,prints_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP10 HGNC ENSG00000003400 78 0 0 60 8 11.7647 CASP8 0 genome.wustl.edu 37 2 202136301 202136301 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 202136301 202136301 T C SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.545 p.L182P 0.000 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 81 0 0 63 4 5.97015 ALS2CR11 0 genome.wustl.edu 37 2 202483730 202483730 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 202483730 202483730 G A SNP ALS2CR11 ENST00000286195 human ensembl 74_37 -1 known missense c.124 p.H42Y 0.000 NULL superfamily_C2_dom - no_errors ALS2CR11 HGNC ENSG00000155754 82 0 0 78 6 7.14286 MPP4 0 genome.wustl.edu 37 2 202510022 202510022 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 202510022 202510022 C T SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.1825 p.A609T 0.990 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 87 0 0 74 6 7.5 ALS2 0 genome.wustl.edu 37 2 202588154 202588154 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 202588154 202588154 A G SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known missense c.3523 p.Y1175H 1.000 pfam_MORN,smart_MORN pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 170 0 0 119 9 7.03125 NOP58 0 genome.wustl.edu 37 2 203160406 203160406 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 203160406 203160406 T C SNP NOP58 ENST00000264279 human ensembl 74_37 +1 known missense c.917 p.L306S 1.000 pfam_Nop_dom pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 191 0 0 155 11 6.62651 FAM117B 0 genome.wustl.edu 37 2 203630429 203630429 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 203630429 203630429 T C SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known missense c.1712 p.V571A 0.467 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 91 0 0 70 4 5.40541 ICA1L 0 genome.wustl.edu 37 2 203693595 203693595 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 203693595 203693595 A G SNP ICA1L ENST00000358299 human ensembl 74_37 -1 known silent c.138 p.D46 1.000 pfam_AH_dom,pfscan_AH_dom pfam_Islet_autoAg_Ica1_C,pfam_AH_dom,pfscan_AH_dom - no_errors ICA1L HGNC ENSG00000163596 151 1 0.657895 113 12 9.6 SDC1 0 genome.wustl.edu 37 2 20403763 20403763 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 20403763 20403763 C A SNP SDC1 ENST00000254351 human ensembl 74_37 -1 known missense c.438 p.Q146H 0.985 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC1 HGNC ENSG00000115884 94 0 0 98 6 5.76923 RAPH1 0 genome.wustl.edu 37 2 204305854 204305854 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 204305854 204305854 G A SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.2215 p.P739S 0.180 superfamily_Kinase-like_dom pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 67 0 0 71 9 11.25 RAPH1 0 genome.wustl.edu 37 2 204309652 204309652 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 204309652 204309652 A C SNP RAPH1 ENST00000374493 human ensembl 74_37 -1 known missense c.1871 p.I624S 0.533 superfamily_Kinase-like_dom pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 135 0 0 114 9 7.31707 PUM2 0 genome.wustl.edu 37 2 20451433 20451433 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 20451433 20451433 C T SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known silent c.3114 p.K1038 1.000 superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 188 0 0 132 11 7.69231 PUM2 0 genome.wustl.edu 37 2 20483138 20483138 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 20483138 20483138 T C SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known silent c.1401 p.T467 0.813 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 90 0 0 66 5 7.04225 NDUFS1 0 genome.wustl.edu 37 2 207011675 207011675 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 207011675 207011675 G A SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known missense c.731 p.A244V 1.000 tigrfam_NADH_UbQ_OxRdtase_Gsu pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 108 0 0 67 9 11.8421 ZDBF2 0 genome.wustl.edu 37 2 207173626 207173626 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 207173626 207173626 T G SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known silent c.4374 p.S1458 0.747 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 43 0 0 46 4 8 ZDBF2 0 genome.wustl.edu 37 2 207174279 207174279 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 207174279 207174279 C T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.5027 p.T1676M 0.002 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 118 0 0 60 11 15.493 ADAM23 0 genome.wustl.edu 37 2 207429771 207429771 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 207429771 207429771 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.1373 p.G458D 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 107 0 0 80 5 5.88235 DYTN 0 genome.wustl.edu 37 2 207530748 207530748 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 207530748 207530748 A C SNP DYTN ENST00000452335 human ensembl 74_37 -1 known missense c.986 p.L329R 0.947 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 105 0 0 76 6 7.31707 CPO 0 genome.wustl.edu 37 2 207825666 207825666 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 207825666 207825666 A G SNP CPO ENST00000272852 human ensembl 74_37 +1 known missense c.574 p.S192G 0.994 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC ENSG00000144410 158 0 0 130 9 6.47482 CREB1 0 genome.wustl.edu 37 2 208432253 208432253 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 208432253 208432253 C T SNP CREB1 ENST00000432329 human ensembl 74_37 +1 known nonsense c.370 p.R124* 1.000 pfam_Coactivator_CBP_pKID,pfscan_Coactivator_CBP_pKID,prints_Leuzip_CREB pfam_Coactivator_CBP_pKID,pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_Coactivator_CBP_pKID,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB1 HGNC ENSG00000118260 66 0 0 33 8 19.5122 CRYGC 0 genome.wustl.edu 37 2 208993087 208993087 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 208993087 208993087 C T SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known missense c.365 p.R122H 0.997 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 53 0 0 62 8 11.4286 IDH1 0 genome.wustl.edu 37 2 209113132 209113132 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 209113132 209113132 T C SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known silent c.375 p.V125 0.847 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 95 0 0 87 6 6.45161 PIKFYVE 0 genome.wustl.edu 37 2 209165682 209165682 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 209165682 209165682 C A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.1072 p.L358M 0.962 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 99 0 0 71 5 6.57895 PTH2R 0 genome.wustl.edu 37 2 209271804 209271804 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 209271804 209271804 T C SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known silent c.36 p.G12 0.547 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 136 0 0 117 8 6.4 PTH2R 0 genome.wustl.edu 37 2 209307125 209307125 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 209307125 209307125 G A SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.448 p.V150I 0.001 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 251 1 0.396825 189 19 9.13462 PTH2R 0 genome.wustl.edu 37 2 209353840 209353840 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 209353840 209353840 C T SNP PTH2R ENST00000272847 human ensembl 74_37 +1 known missense c.1180 p.R394C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors PTH2R HGNC ENSG00000144407 82 0 0 57 6 9.52381 MAP2 0 genome.wustl.edu 37 2 210560092 210560092 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 210560092 210560092 G T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.3198 p.R1066S 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 109 1 0.909091 78 18 18.75 MAP2 0 genome.wustl.edu 37 2 210588382 210588382 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 210588382 210588382 A T SNP MAP2 ENST00000199940 human ensembl 74_37 +1 known missense c.1240 p.N414Y 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 69 0 0 52 5 8.77193 KANSL1L 0 genome.wustl.edu 37 2 210887769 210887769 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 210887769 210887769 T C SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known silent c.2868 p.V956 0.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 102 0 0 92 5 5.15464 KANSL1L 0 genome.wustl.edu 37 2 210892042 210892042 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 210892042 210892042 T C SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.2429 p.E810G 0.168 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 116 0 0 89 9 9.18367 LANCL1 0 genome.wustl.edu 37 2 211319880 211319880 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 211319880 211319880 G A SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known silent c.358 p.L120 1.000 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 117 1 0.847458 97 14 12.6126 CPS1 0 genome.wustl.edu 37 2 211465360 211465360 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 211465360 211465360 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1649 p.T550M 1.000 superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 133 0 0 113 6 5.04202 ERBB4 0 genome.wustl.edu 37 2 212293210 212293210 + Splice_Site SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 212293210 212293210 T A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known splice_site c.2644-2 e22-2 1.000 - - - no_errors ERBB4 HGNC ENSG00000178568 145 1 0.684932 96 11 10.2804 APOB 0 genome.wustl.edu 37 2 21230586 21230586 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 21230586 21230586 T G SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.9154 p.N3052H 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 103 0 0 76 5 6.17284 APOB 0 genome.wustl.edu 37 2 21230676 21230676 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 21230676 21230676 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.9064 p.D3022Y 0.417 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 80 0 0 60 4 6.25 APOB 0 genome.wustl.edu 37 2 21231305 21231305 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 21231305 21231305 G T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.8435 p.A2812E 0.924 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 136 0 0 120 8 6.25 APOB 0 genome.wustl.edu 37 2 21237364 21237364 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 21237364 21237364 C A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.3798 p.M1266I 0.024 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 96 0 0 78 11 12.3596 APOB 0 genome.wustl.edu 37 2 21238370 21238370 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 21238370 21238370 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.3380 p.P1127L 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 71 0 0 52 6 10.3448 APOB 0 genome.wustl.edu 37 2 21252548 21252548 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 21252548 21252548 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.1580 p.A527V 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 181 0 0 118 29 19.7279 ERBB4 0 genome.wustl.edu 37 2 212543788 212543788 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 212543788 212543788 G T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1611 p.N537K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 49 0 0 21 6 22.2222 ERBB4 0 genome.wustl.edu 37 2 212570080 212570080 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 212570080 212570080 C A SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.1161 p.E387D 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 181 1 0.549451 120 8 6.25 IKZF2 0 genome.wustl.edu 37 2 213914553 213914553 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 213914553 213914553 C T SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.458 p.G153D 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 46 0 0 31 7 18.4211 SPAG16 0 genome.wustl.edu 37 2 215275016 215275016 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215275016 215275016 G A SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1873 p.G625S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 SPAG16 HGNC ENSG00000144451 103 0 0 106 8 7.01754 ABCA12 0 genome.wustl.edu 37 2 215833442 215833442 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215833442 215833442 A G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known splice_site c.5778+2 e38+2 1.000 - - - no_errors ABCA12 HGNC ENSG00000144452 193 1 0.515464 151 11 6.79012 ABCA12 0 genome.wustl.edu 37 2 215847077 215847077 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215847077 215847077 A T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.4413 p.H1471Q 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 114 0 0 92 8 8 ABCA12 0 genome.wustl.edu 37 2 215851381 215851381 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215851381 215851381 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.4048 p.G1350R 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 107 0 0 80 6 6.97674 ABCA12 0 genome.wustl.edu 37 2 215855563 215855563 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215855563 215855563 A G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.3487 p.Y1163H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 92 0 0 63 6 8.69565 ABCA12 0 genome.wustl.edu 37 2 215901775 215901775 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215901775 215901775 A G SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.887 p.V296A 0.856 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 81 0 0 69 7 9.21053 ABCA12 0 genome.wustl.edu 37 2 215928846 215928846 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215928846 215928846 T C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.260 p.Y87C 0.995 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 137 0 0 101 10 9.00901 ATIC 0 genome.wustl.edu 37 2 216184396 216184396 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216184396 216184396 G T SNP ATIC ENST00000236959 human ensembl 74_37 +1 known missense c.232 p.A78S 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 89 0 0 56 4 6.66667 ATIC 0 genome.wustl.edu 37 2 216211630 216211630 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216211630 216211630 C T SNP ATIC ENST00000236959 human ensembl 74_37 +1 known missense c.1469 p.A490V 1.000 superfamily_Cytidine_deaminase-like,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 86 0 0 69 10 12.6582 FN1 0 genome.wustl.edu 37 2 216241350 216241350 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216241350 216241350 T C SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5758 p.T1920A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 86 0 0 86 5 5.49451 FN1 0 genome.wustl.edu 37 2 216269191 216269191 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216269191 216269191 A G SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.3174 p.P1058 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 101 1 0.980392 98 9 8.41121 FN1 0 genome.wustl.edu 37 2 216272839 216272839 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216272839 216272839 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.2510 p.P837L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 113 0 0 87 21 19.4444 FN1 0 genome.wustl.edu 37 2 216273076 216273076 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216273076 216273076 A T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known nonsense c.2373 p.Y791* 0.675 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 81 0 0 66 5 7.04225 FN1 0 genome.wustl.edu 37 2 216300512 216300512 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216300512 216300512 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.14 p.P5L 1.000 NULL pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 9 0 0 6 3 33.3333 MREG 0 genome.wustl.edu 37 2 216810365 216810365 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216810365 216810365 A G SNP MREG ENST00000263268 human ensembl 74_37 -1 known silent c.439 p.L147 0.998 NULL NULL - no_errors MREG HGNC ENSG00000118242 108 0 0 88 7 7.36842 XRCC5 0 genome.wustl.edu 37 2 216981555 216981555 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 216981555 216981555 A G SNP XRCC5 ENST00000392132 human ensembl 74_37 +1 known silent c.309 p.Q103 0.829 pfam_Ku_N,smart_VWF_A pfam_Ku_N,pfam_Ku_PK_bind,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,superfamily_SPOC_like_C_dom,superfamily_Ku_PK_bind,smart_VWF_A,smart_Ku70/Ku80_beta-barrel_dom - no_errors XRCC5 HGNC ENSG00000079246 110 0 0 85 26 23.4234 SMARCAL1 0 genome.wustl.edu 37 2 217280157 217280157 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 217280157 217280157 A G SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known missense c.730 p.N244D 0.000 NULL pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 180 0 0 151 13 7.92683 TNS1 0 genome.wustl.edu 37 2 218669296 218669296 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 218669296 218669296 G A SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.5094 p.G1698 1.000 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 64 0 0 57 17 22.973 TNS1 0 genome.wustl.edu 37 2 218712549 218712549 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 218712549 218712549 C T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.2316 p.S772 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 39 0 0 27 11 28.9474 CXCR2 0 genome.wustl.edu 37 2 218999581 218999581 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 218999581 218999581 T A SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known missense c.57 p.D19E 0.000 prints_Chemokine_CXCR2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 150 0 0 122 24 16.4384 CXCR2 0 genome.wustl.edu 37 2 219000013 219000013 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219000013 219000013 A C SNP CXCR2 ENST00000318507 human ensembl 74_37 +1 known missense c.489 p.K163N 0.845 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR2,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR2 HGNC ENSG00000180871 71 0 0 56 5 8.19672 CXCR1 0 genome.wustl.edu 37 2 219029676 219029676 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219029676 219029676 G T SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known missense c.259 p.L87I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 101 0 0 112 10 8.19672 CTDSP1 0 genome.wustl.edu 37 2 219267084 219267084 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219267084 219267084 G A SNP CTDSP1 ENST00000273062 human ensembl 74_37 +1 known missense c.334 p.A112T 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSP1 HGNC ENSG00000144579 69 0 0 63 7 10 CTDSP1 0 genome.wustl.edu 37 2 219269251 219269251 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219269251 219269251 A G SNP CTDSP1 ENST00000464255 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTDSP1 HGNC ENSG00000144579 16 0 0 20 3 13.0435 USP37 0 genome.wustl.edu 37 2 219350422 219350422 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219350422 219350422 A T SNP USP37 ENST00000258399 human ensembl 74_37 -1 known nonsense c.1635 p.C545* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 148 0 0 66 24 26.6667 USP37 0 genome.wustl.edu 37 2 219411702 219411702 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219411702 219411702 C T SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.542 p.R181Q 0.233 NULL pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 143 0 0 83 9 9.78261 PLCD4 0 genome.wustl.edu 37 2 219487417 219487417 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219487417 219487417 A G SNP PLCD4 ENST00000417849 human ensembl 74_37 +1 known silent c.588 p.V196 0.340 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 53 0 0 58 7 10.7692 ZNF142 0 genome.wustl.edu 37 2 219508288 219508288 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219508288 219508288 A T SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.2951 p.V984D 0.035 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 105 0 0 141 11 7.23684 RNF25 0 genome.wustl.edu 37 2 219528796 219528796 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219528796 219528796 G T SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known missense c.1264 p.R422S 0.992 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 153 0 0 154 24 13.4831 RNF25 0 genome.wustl.edu 37 2 219528942 219528942 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219528942 219528942 G A SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known missense c.1118 p.P373L 0.927 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 131 0 0 133 27 16.875 STK36 0 genome.wustl.edu 37 2 219558684 219558684 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219558684 219558684 C T SNP STK36 ENST00000295709 human ensembl 74_37 +1 known missense c.2314 p.R772W 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK36 HGNC ENSG00000163482 77 0 0 67 5 6.94444 TTLL4 0 genome.wustl.edu 37 2 219603528 219603528 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219603528 219603528 A G SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.1129 p.R377G 0.005 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 97 0 0 83 24 22.4299 WNT6 0 genome.wustl.edu 37 2 219736234 219736234 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219736234 219736234 C T SNP WNT6 ENST00000233948 human ensembl 74_37 +1 known missense c.329 p.A110V 1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt6 - no_errors WNT6 HGNC ENSG00000115596 31 0 0 19 3 13.6364 CCDC108 0 genome.wustl.edu 37 2 219869020 219869020 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 219869020 219869020 T C SNP CCDC108 ENST00000341552 human ensembl 74_37 -1 known missense c.5209 p.S1737G 0.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 185 0 0 154 14 8.33333 SLC23A3 0 genome.wustl.edu 37 2 220033490 220033490 + Silent SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220033490 220033490 G C SNP SLC23A3 ENST00000455516 human ensembl 74_37 -1 known silent c.582 p.G194 0.138 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 36 0 0 27 3 10 FAM134A 0 genome.wustl.edu 37 2 220046854 220046854 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220046854 220046854 T C SNP FAM134A ENST00000430297 human ensembl 74_37 +1 known missense c.1135 p.S379P 0.181 NULL pfam_Reticulon - no_errors FAM134A HGNC ENSG00000144567 128 0 0 123 17 12.1429 DNAJB2 0 genome.wustl.edu 37 2 220149476 220149476 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220149476 220149476 G A SNP DNAJB2 ENST00000336576 human ensembl 74_37 +1 known missense c.742 p.D248N 0.376 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB2 HGNC ENSG00000135924 31 0 0 28 9 24.3243 SPEG 0 genome.wustl.edu 37 2 220349088 220349088 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220349088 220349088 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.6903 p.P2301 0.625 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 17 0 0 20 6 23.0769 SPEG 0 genome.wustl.edu 37 2 220354263 220354263 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220354263 220354263 A G SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.8523 p.P2841 0.139 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 63 0 0 66 10 13.1579 SPEG 0 genome.wustl.edu 37 2 220357350 220357350 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220357350 220357350 C A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.9646 p.P3216T 0.996 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 104 0 0 92 10 9.80392 GMPPA 0 genome.wustl.edu 37 2 220366625 220366625 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220366625 220366625 C T SNP GMPPA ENST00000313597 human ensembl 74_37 +1 known nonsense c.295 p.R99* 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors GMPPA HGNC ENSG00000144591 80 0 0 90 24 21.0526 EPHA4 0 genome.wustl.edu 37 2 222310897 222310897 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 222310897 222310897 T C SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.1720 p.S574G 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA4 HGNC ENSG00000116106 104 0 0 54 7 11.4754 EPHA4 0 genome.wustl.edu 37 2 222321482 222321482 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 222321482 222321482 T C SNP EPHA4 ENST00000281821 human ensembl 74_37 -1 known missense c.1454 p.E485G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,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 EPHA4 HGNC ENSG00000116106 84 0 0 90 5 5.26316 FARSB 0 genome.wustl.edu 37 2 223499245 223499245 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 223499245 223499245 A G SNP FARSB ENST00000281828 human ensembl 74_37 -1 known silent c.471 p.V157 1.000 pfam_B3/B4_tRNA-bd,smart_B3/B4_tRNA-bd,tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 79 0 0 61 5 7.57576 SCG2 0 genome.wustl.edu 37 2 224462954 224462954 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 224462954 224462954 A T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known nonsense c.1047 p.Y349* 0.997 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 146 0 0 124 7 5.34351 DOCK10 0 genome.wustl.edu 37 2 225630541 225630541 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 225630541 225630541 T C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.6458 p.D2153G 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 40 0 0 21 4 16 NYAP2 0 genome.wustl.edu 37 2 226446929 226446929 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 226446929 226446929 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.796 p.A266T 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 112 0 0 112 8 6.66667 NYAP2 0 genome.wustl.edu 37 2 226447576 226447576 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 226447576 226447576 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known silent c.1443 p.S481 0.821 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 38 0 0 36 16 30.7692 IRS1 0 genome.wustl.edu 37 2 227660190 227660190 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 227660190 227660190 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.3265 p.R1089C 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 87 0 0 86 7 7.52688 IRS1 0 genome.wustl.edu 37 2 227663097 227663097 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 227663097 227663097 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.358 p.H120Y 1.000 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 69 0 0 63 5 7.35294 RHBDD1 0 genome.wustl.edu 37 2 227732001 227732001 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 227732001 227732001 T A SNP RHBDD1 ENST00000341329 human ensembl 74_37 +1 known missense c.533 p.V178D 0.845 pfam_Peptidase_S54_rhomboid_dom pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD1 HGNC ENSG00000144468 217 0 0 169 13 7.14286 COL4A4 0 genome.wustl.edu 37 2 227919385 227919385 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 227919385 227919385 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known missense c.2785 p.P929S 0.909 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 73 0 0 44 7 13.7255 MFF 0 genome.wustl.edu 37 2 228220472 228220472 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 228220472 228220472 C T SNP MFF ENST00000353339 human ensembl 74_37 +1 known nonsense c.892 p.R298* 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 271 0 0 174 17 8.90052 CCL20 0 genome.wustl.edu 37 2 228680264 228680264 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 228680264 228680264 C A SNP CCL20 ENST00000358813 human ensembl 74_37 +1 known silent c.171 p.G57 0.725 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL20 HGNC ENSG00000115009 156 1 0.636943 100 14 12.2807 SPHKAP 0 genome.wustl.edu 37 2 228884736 228884736 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 228884736 228884736 T C SNP SPHKAP ENST00000392056 human ensembl 74_37 -1 known silent c.834 p.T278 0.000 NULL pfam_AKAP_110_C - no_errors SPHKAP HGNC ENSG00000153820 309 2 0.643087 222 15 6.32911 SLC16A14 0 genome.wustl.edu 37 2 230910760 230910760 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 230910760 230910760 A G SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.1082 p.I361T 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 44 0 0 47 7 12.963 SLC16A14 0 genome.wustl.edu 37 2 230923905 230923905 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 230923905 230923905 C T SNP SLC16A14 ENST00000295190 human ensembl 74_37 -1 known missense c.164 p.G55D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A14 HGNC ENSG00000163053 77 0 0 63 7 10 SP110 0 genome.wustl.edu 37 2 231036441 231036441 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231036441 231036441 T C SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.1858 p.S620G 0.064 superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 71 0 0 42 9 17.6471 SP110 0 genome.wustl.edu 37 2 231042316 231042316 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231042316 231042316 T C SNP SP110 ENST00000258381 human ensembl 74_37 -1 known missense c.1528 p.N510D 0.000 pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 315 0 0 227 17 6.96721 SP140 0 genome.wustl.edu 37 2 231134660 231134660 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231134660 231134660 G A SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.1436 p.G479D 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 68 0 0 52 5 8.77193 SP140L 0 genome.wustl.edu 37 2 231193506 231193506 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231193506 231193506 G A SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.67 p.E23K 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 74 0 0 50 7 12.2807 SP140L 0 genome.wustl.edu 37 2 231253321 231253321 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231253321 231253321 G T SNP SP140L ENST00000415673 human ensembl 74_37 +1 known missense c.832 p.A278S 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 35 0 0 24 3 11.1111 PSMD1 0 genome.wustl.edu 37 2 231948386 231948386 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231948386 231948386 T C SNP PSMD1 ENST00000308696 human ensembl 74_37 +1 known missense c.1631 p.I544T 1.000 pfam_Proteasome/cyclosome_rpt,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 150 0 0 110 7 5.98291 HTR2B 0 genome.wustl.edu 37 2 231988258 231988258 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231988258 231988258 A G SNP HTR2B ENST00000258400 human ensembl 74_37 -1 known missense c.221 p.L74P 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC ENSG00000135914 120 0 0 112 11 8.94309 NCL 0 genome.wustl.edu 37 2 232325554 232325554 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 232325554 232325554 T A SNP NCL ENST00000322723 human ensembl 74_37 -1 known missense c.637 p.T213S 0.010 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 153 0 0 123 10 7.5188 DIS3L2 0 genome.wustl.edu 37 2 233194691 233194691 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 233194691 233194691 C T SNP DIS3L2 ENST00000390005 human ensembl 74_37 +1 known missense c.1835 p.P612L 0.009 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 71 0 0 60 7 10.4478 ALPI 0 genome.wustl.edu 37 2 233322832 233322832 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 233322832 233322832 C A SNP ALPI ENST00000295463 human ensembl 74_37 +1 known silent c.981 p.L327 0.999 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 53 0 0 58 8 12.1212 CHRNG 0 genome.wustl.edu 37 2 233404465 233404465 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 233404465 233404465 G T SNP CHRNG ENST00000389494 human ensembl 74_37 +1 known missense c.8 p.G3V 0.003 NULL 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 ENSG00000196811 149 1 0.666667 147 41 21.8085 GIGYF2 0 genome.wustl.edu 37 2 233620987 233620987 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 233620987 233620987 G T SNP GIGYF2 ENST00000373566 human ensembl 74_37 +1 known nonsense c.322 p.G108* 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 87 0 0 64 6 8.57143 NGEF 0 genome.wustl.edu 37 2 233744335 233744335 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 233744335 233744335 G A SNP NGEF ENST00000264051 human ensembl 74_37 -1 known missense c.1997 p.S666F 0.492 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 69 0 0 90 5 5.26316 NGEF 0 genome.wustl.edu 37 2 233785033 233785033 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 233785033 233785033 C T SNP NGEF ENST00000264051 human ensembl 74_37 -1 known silent c.789 p.V263 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 74 0 0 75 6 7.40741 INPP5D 0 genome.wustl.edu 37 2 234072495 234072495 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 234072495 234072495 G A SNP INPP5D ENST00000359570 human ensembl 74_37 +1 known nonsense c.1347 p.W449* 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2 - no_errors INPP5D HGNC ENSG00000168918 58 0 0 62 5 7.46269 DGKD 0 genome.wustl.edu 37 2 234368890 234368890 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 234368890 234368890 G A SNP DGKD ENST00000264057 human ensembl 74_37 +1 known silent c.2880 p.L960 0.998 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 57 0 0 48 6 11.1111 UGT1A5 0 genome.wustl.edu 37 2 234621647 234621647 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 234621647 234621647 G T SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known nonsense c.10 p.G4* 0.004 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 47 0 0 43 3 6.52174 UGT1A5 0 genome.wustl.edu 37 2 234621927 234621927 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 234621927 234621927 C T SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known missense c.290 p.T97I 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 125 0 0 104 14 11.8644 AGAP1 0 genome.wustl.edu 37 2 236945228 236945228 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 236945228 236945228 A G SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1669 p.I557V 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 154 0 0 122 8 6.15385 IQCA1 0 genome.wustl.edu 37 2 237374169 237374169 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 237374169 237374169 C T SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.905 p.R302Q 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 52 0 0 45 5 10 COL6A3 0 genome.wustl.edu 37 2 238249610 238249610 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238249610 238249610 T A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7949 p.D2650V 0.926 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 92 0 0 88 8 8.33333 COL6A3 0 genome.wustl.edu 37 2 238253585 238253585 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238253585 238253585 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.7173 p.Y2391 0.286 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 53 0 0 37 8 17.7778 COL6A3 0 genome.wustl.edu 37 2 238285615 238285615 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238285615 238285615 T C SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.2870 p.D957G 0.064 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 83 0 0 72 16 18.1818 COL6A3 0 genome.wustl.edu 37 2 238296650 238296650 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238296650 238296650 A G SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.887 p.L296S 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 75 0 0 65 4 5.7971 COL6A3 0 genome.wustl.edu 37 2 238296676 238296676 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238296676 238296676 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.861 p.S287 0.982 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 95 0 0 60 20 25 COL6A3 0 genome.wustl.edu 37 2 238303419 238303419 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238303419 238303419 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.520 p.A174T 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 86 0 0 87 7 7.44681 RBM44 0 genome.wustl.edu 37 2 238725827 238725827 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238725827 238725827 A C SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.268 p.T90P 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 103 0 0 81 6 6.89655 SCLY 0 genome.wustl.edu 37 2 238999895 238999895 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238999895 238999895 G T SNP SCLY ENST00000254663 human ensembl 74_37 +1 known missense c.945 p.K315N 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Cysteine_dSase_NifS - no_errors SCLY HGNC ENSG00000132330 155 0 0 148 12 7.5 ESPNL 0 genome.wustl.edu 37 2 239040248 239040248 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 239040248 239040248 G A SNP ESPNL ENST00000343063 human ensembl 74_37 +1 known missense c.2893 p.A965T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ESPNL HGNC ENSG00000144488 36 0 0 40 3 6.97674 ATAD2B 0 genome.wustl.edu 37 2 24033224 24033224 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24033224 24033224 A G SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.2416 p.S806P 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 92 0 0 69 4 5.47945 ATAD2B 0 genome.wustl.edu 37 2 24046213 24046213 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24046213 24046213 C T SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known silent c.2046 p.L682 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 49 0 0 27 4 12.9032 OR6B3 0 genome.wustl.edu 37 2 240985382 240985382 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 240985382 240985382 G A SNP OR6B3 ENST00000319423 human ensembl 74_37 -1 known silent c.108 p.L36 0.692 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B3 HGNC ENSG00000178586 82 0 0 74 7 8.64198 RNPEPL1 0 genome.wustl.edu 37 2 241513717 241513717 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 241513717 241513717 G A SNP RNPEPL1 ENST00000270357 human ensembl 74_37 +1 known missense c.433 p.E145K 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEPL1 HGNC ENSG00000142327 50 0 0 36 11 23.4043 KIF1A 0 genome.wustl.edu 37 2 241689868 241689868 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 241689868 241689868 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known silent c.2955 p.R985 0.130 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 32 0 0 37 6 13.9535 UBXN2A 0 genome.wustl.edu 37 2 24194218 24194218 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24194218 24194218 T A SNP UBXN2A ENST00000309033 human ensembl 74_37 +1 known missense c.114 p.D38E 0.964 NULL pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2A HGNC ENSG00000173960 218 0 0 163 15 8.42697 SNED1 0 genome.wustl.edu 37 2 241992711 241992711 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 241992711 241992711 A G SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.2225 p.H742R 0.013 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 75 0 0 71 8 10.1266 SNED1 0 genome.wustl.edu 37 2 242009574 242009574 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 242009574 242009574 G A SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.3547 p.G1183R 0.965 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 12 0 0 11 3 21.4286 SNED1 0 genome.wustl.edu 37 2 242021174 242021174 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 242021174 242021174 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known silent c.3999 p.C1333 0.055 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 19 0 0 11 4 26.6667 UBXN2A 0 genome.wustl.edu 37 2 24205770 24205770 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24205770 24205770 T A SNP UBXN2A ENST00000309033 human ensembl 74_37 +1 known missense c.292 p.L98I 0.994 pfam_SEP_domain,superfamily_SEP_domain,smart_SEP_domain pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors UBXN2A HGNC ENSG00000173960 106 0 0 69 5 6.75676 PASK 0 genome.wustl.edu 37 2 242066830 242066830 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 242066830 242066830 G A SNP PASK ENST00000358649 human ensembl 74_37 -1 known silent c.1500 p.H500 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 95 0 0 65 20 23.5294 PPP1R7 0 genome.wustl.edu 37 2 242122098 242122098 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 242122098 242122098 G A SNP PPP1R7 ENST00000234038 human ensembl 74_37 +1 known missense c.943 p.D315N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors PPP1R7 HGNC ENSG00000115685 85 0 0 66 8 10.8108 BOK 0 genome.wustl.edu 37 2 242501857 242501857 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 242501857 242501857 G A SNP BOK ENST00000318407 human ensembl 74_37 +1 known silent c.315 p.A105 0.755 pfam_Blc2_fam,pfscan_Bcl2-like pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BOK HGNC ENSG00000176720 44 0 0 50 11 18.0328 D2HGDH 0 genome.wustl.edu 37 2 242690780 242690780 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 242690780 242690780 G A SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known missense c.1117 p.A373T 1.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 57 0 0 33 5 13.1579 ITSN2 0 genome.wustl.edu 37 2 24493619 24493619 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24493619 24493619 A G SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.2276 p.L759S 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 110 0 0 77 9 10.4651 ITSN2 0 genome.wustl.edu 37 2 24533475 24533475 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24533475 24533475 T A SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known missense c.439 p.T147S 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 91 0 0 54 5 8.47458 NCOA1 0 genome.wustl.edu 37 2 24927967 24927967 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24927967 24927967 G A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.962 p.G321D 1.000 superfamily_PAS,pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 94 0 0 83 7 7.77778 NCOA1 0 genome.wustl.edu 37 2 24929562 24929562 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 24929562 24929562 C T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.1223 p.P408L 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 95 0 0 66 6 8.33333 CENPO 0 genome.wustl.edu 37 2 25037355 25037355 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 25037355 25037355 T A SNP CENPO ENST00000260662 human ensembl 74_37 +1 known missense c.327 p.H109Q 0.933 NULL pfam_CENP-O - no_errors CENPO HGNC ENSG00000138092 112 0 0 100 9 8.25688 POMC 0 genome.wustl.edu 37 2 25384290 25384290 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 25384290 25384290 C T SNP POMC ENST00000264708 human ensembl 74_37 -1 known missense c.464 p.R155H 1.000 pfam_Mcrtin_ACTH_cent,prints_Mcortin_ACTH pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC ENSG00000115138 21 0 0 19 5 20.8333 DNMT3A 0 genome.wustl.edu 37 2 25463242 25463242 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 25463242 25463242 A T SNP DNMT3A ENST00000264709 human ensembl 74_37 -1 known missense c.2251 p.F751I 1.000 pfam_C5_MeTfrase pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3A HGNC ENSG00000119772 136 0 0 95 12 11.215 HADHA 0 genome.wustl.edu 37 2 26437359 26437359 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26437359 26437359 G A SNP HADHA ENST00000380649 human ensembl 74_37 -1 known nonsense c.871 p.R291* 0.976 tigrfam_Fa_ox_alpha_mit pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Fa_ox_alpha_mit - no_errors HADHA HGNC ENSG00000084754 119 0 0 76 23 23.2323 HADHB 0 genome.wustl.edu 37 2 26502916 26502916 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26502916 26502916 T C SNP HADHB ENST00000317799 human ensembl 74_37 +1 known missense c.866 p.M289T 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,tigrfam_Thiolase - no_errors HADHB HGNC ENSG00000138029 130 0 0 84 6 6.66667 DRC1 0 genome.wustl.edu 37 2 26644259 26644259 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26644259 26644259 A C SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.347 p.K116T 0.997 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 47 0 0 37 4 9.7561 DRC1 0 genome.wustl.edu 37 2 26676390 26676390 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26676390 26676390 C T SNP DRC1 ENST00000288710 human ensembl 74_37 +1 known missense c.1892 p.A631V 1.000 NULL NULL - no_errors DRC1 HGNC ENSG00000157856 63 0 0 56 16 22.2222 OTOF 0 genome.wustl.edu 37 2 26695445 26695445 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26695445 26695445 A G SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3806 p.V1269A 1.000 superfamily_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 35 0 0 53 10 15.873 OTOF 0 genome.wustl.edu 37 2 26702518 26702518 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26702518 26702518 T C SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.1916 p.N639S 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 54 0 0 56 5 8.19672 OTOF 0 genome.wustl.edu 37 2 26741942 26741942 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26741942 26741942 A G SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.263 p.V88A 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 22 0 0 19 4 17.3913 DPYSL5 0 genome.wustl.edu 37 2 27162933 27162933 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27162933 27162933 C T SNP DPYSL5 ENST00000288699 human ensembl 74_37 +1 known missense c.982 p.P328S 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL5 HGNC ENSG00000157851 109 0 0 81 31 27.6786 AGBL5 0 genome.wustl.edu 37 2 27276785 27276785 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27276785 27276785 T A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.409 p.L137I 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 108 0 0 99 13 11.6071 CAD 0 genome.wustl.edu 37 2 27449763 27449763 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27449763 27449763 T A SNP CAD ENST00000264705 human ensembl 74_37 +1 known silent c.2220 p.I740 0.999 tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 130 0 0 146 23 13.6095 TRIM54 0 genome.wustl.edu 37 2 27529138 27529138 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27529138 27529138 C A SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known missense c.1050 p.S350R 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 58 0 0 71 7 8.97436 GTF3C2 0 genome.wustl.edu 37 2 27560373 27560373 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27560373 27560373 A G SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known missense c.1003 p.W335R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 77 0 0 59 11 15.7143 IFT172 0 genome.wustl.edu 37 2 27680796 27680796 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27680796 27680796 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.3023 p.K1008R 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 102 0 0 94 11 10.4762 IFT172 0 genome.wustl.edu 37 2 27682682 27682682 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27682682 27682682 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known nonsense c.2536 p.R846* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 161 0 0 130 37 22.1557 C2orf16 0 genome.wustl.edu 37 2 27800214 27800214 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27800214 27800214 A G SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.775 p.T259A 0.000 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 127 0 0 122 9 6.87023 C2orf16 0 genome.wustl.edu 37 2 27804215 27804215 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27804215 27804215 T A SNP C2orf16 ENST00000408964 human ensembl 74_37 +1 known missense c.4776 p.S1592R 0.008 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 131 0 0 107 6 5.30973 PLB1 0 genome.wustl.edu 37 2 28739692 28739692 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 28739692 28739692 A G SNP PLB1 ENST00000422425 human ensembl 74_37 +1 known missense c.73 p.T25A 0.000 NULL pfam_Lipase_GDSL - no_errors PLB1 HGNC ENSG00000163803 135 0 0 108 12 10 C2orf71 0 genome.wustl.edu 37 2 29287753 29287753 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 29287753 29287753 C A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.3849 p.Q1283H 0.003 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 26 0 0 27 4 12.9032 CLIP4 0 genome.wustl.edu 37 2 29386758 29386758 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 29386758 29386758 T C SNP CLIP4 ENST00000320081 human ensembl 74_37 +1 known silent c.1596 p.G532 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP4 HGNC ENSG00000115295 110 1 0.900901 88 9 9.27835 YPEL5 0 genome.wustl.edu 37 2 30381637 30381637 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 30381637 30381637 C T SNP YPEL5 ENST00000261353 human ensembl 74_37 +1 known silent c.294 p.R98 0.703 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL5 HGNC ENSG00000119801 92 0 0 87 7 7.44681 LCLAT1 0 genome.wustl.edu 37 2 30682536 30682536 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 30682536 30682536 G A SNP LCLAT1 ENST00000309052 human ensembl 74_37 +1 known missense c.58 p.A20T 0.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LCLAT1 HGNC ENSG00000172954 260 0 0 180 24 11.7647 EHD3 0 genome.wustl.edu 37 2 31489241 31489241 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 31489241 31489241 G T SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.1279 p.G427W 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 34 0 0 30 3 9.09091 XDH 0 genome.wustl.edu 37 2 31562486 31562486 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 31562486 31562486 A G SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.3643 p.S1215P 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 66 0 0 75 7 8.53659 XDH 0 genome.wustl.edu 37 2 31588888 31588888 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 31588888 31588888 T C SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.2410 p.T804A 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 94 0 0 74 6 7.5 DPY30 0 genome.wustl.edu 37 2 32093388 32093388 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 32093388 32093388 A G SNP DPY30 ENST00000446765 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors DPY30 HGNC ENSG00000162961 23 0 0 21 3 12.5 SLC30A6 0 genome.wustl.edu 37 2 32417985 32417985 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 32417985 32417985 A G SNP SLC30A6 ENST00000282587 human ensembl 74_37 +1 known splice_site c.366-2 e7-2 1.000 - - - no_errors SLC30A6 HGNC ENSG00000152683 96 0 0 49 5 9.25926 NLRC4 0 genome.wustl.edu 37 2 32476209 32476209 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 32476209 32476209 T G SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known silent c.724 p.R242 0.027 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 139 0 0 112 9 7.43802 BIRC6 0 genome.wustl.edu 37 2 32694625 32694625 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 32694625 32694625 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.6290 p.S2097F 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 298 0 0 237 13 5.2 BIRC6 0 genome.wustl.edu 37 2 32724640 32724640 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 32724640 32724640 C A SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.8495 p.P2832H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 38 0 0 29 3 9.375 TTC27 0 genome.wustl.edu 37 2 33036137 33036137 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 33036137 33036137 G A SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known missense c.2045 p.R682Q 0.985 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 86 0 0 59 6 9.23077 LTBP1 0 genome.wustl.edu 37 2 33589422 33589422 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 33589422 33589422 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known silent c.4542 p.N1514 0.998 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 46 0 0 44 4 8.33333 LTBP1 0 genome.wustl.edu 37 2 33589423 33589423 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 33589423 33589423 G A SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.4543 p.E1515K 1.000 NULL pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 47 0 0 42 3 6.66667 FAM98A 0 genome.wustl.edu 37 2 33810274 33810274 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 33810274 33810274 C T SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known missense c.1126 p.G376R 1.000 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 116 0 0 85 38 30.8943 TRAPPC12 0 genome.wustl.edu 37 2 3392316 3392316 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 3392316 3392316 G A SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known missense c.922 p.D308N 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 29 0 0 28 7 20 TRAPPC12 0 genome.wustl.edu 37 2 3392319 3392319 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 3392319 3392319 G A SNP TRAPPC12 ENST00000324266 human ensembl 74_37 +1 known missense c.925 p.A309T 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC ENSG00000171853 27 0 0 28 7 20 RPS7 0 genome.wustl.edu 37 2 3627805 3627805 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 3627805 3627805 A T SNP RPS7 ENST00000304921 human ensembl 74_37 +1 known silent c.462 p.I154 0.997 pfam_Ribosomal_S7e pfam_Ribosomal_S7e - no_errors RPS7 HGNC ENSG00000171863 126 0 0 76 10 11.6279 CRIM1 0 genome.wustl.edu 37 2 36764546 36764546 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 36764546 36764546 C T SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known missense c.2480 p.A827V 0.668 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 69 0 0 72 8 10 VIT 0 genome.wustl.edu 37 2 36982084 36982084 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 36982084 36982084 G A SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.296 p.G99E 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 80 0 0 55 16 22.5352 HEATR5B 0 genome.wustl.edu 37 2 37255304 37255304 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37255304 37255304 T C SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.3615 p.A1205 0.107 NULL superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 85 0 0 49 6 10.9091 HEATR5B 0 genome.wustl.edu 37 2 37255956 37255956 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37255956 37255956 G A SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.3469 p.L1157 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 111 0 0 107 10 8.54701 SULT6B1 0 genome.wustl.edu 37 2 37402358 37402358 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37402358 37402358 T G SNP SULT6B1 ENST00000535679 human ensembl 74_37 -1 known silent c.541 p.R181 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT6B1 HGNC ENSG00000138068 43 0 0 20 5 20 ALLC 0 genome.wustl.edu 37 2 3743888 3743888 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 3743888 3743888 G A SNP ALLC ENST00000252505 human ensembl 74_37 +1 known missense c.691 p.A231T 0.713 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 65 0 0 41 4 8.88889 CEBPZ 0 genome.wustl.edu 37 2 37442030 37442030 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37442030 37442030 T C SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.2446 p.R816G 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 88 0 0 57 5 8.06452 ALLC 0 genome.wustl.edu 37 2 3744991 3744991 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 3744991 3744991 A T SNP ALLC ENST00000252505 human ensembl 74_37 +1 known silent c.795 p.R265 0.131 pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase - no_errors ALLC HGNC ENSG00000151360 197 0 0 128 9 6.56934 CEBPZ 0 genome.wustl.edu 37 2 37454697 37454697 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37454697 37454697 C T SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.1639 p.A547T 1.000 pfam_CCAAT-binding_factor,superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 139 0 0 91 18 16.5138 CEBPZ 0 genome.wustl.edu 37 2 37454859 37454859 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37454859 37454859 C T SNP CEBPZ ENST00000234170 human ensembl 74_37 -1 known missense c.1477 p.A493T 1.000 superfamily_ARM-type_fold pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC ENSG00000115816 69 0 0 58 7 10.7692 NDUFAF7 0 genome.wustl.edu 37 2 37459358 37459358 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37459358 37459358 T A SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known silent c.165 p.G55 0.844 NULL pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 120 0 0 99 6 5.71429 NDUFAF7 0 genome.wustl.edu 37 2 37474636 37474636 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37474636 37474636 C T SNP NDUFAF7 ENST00000002125 human ensembl 74_37 +1 known missense c.974 p.A325V 0.843 pfam_MidA pfam_MidA - no_errors NDUFAF7 HGNC ENSG00000003509 115 0 0 74 9 10.8434 CDC42EP3 0 genome.wustl.edu 37 2 37873127 37873127 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 37873127 37873127 C T SNP CDC42EP3 ENST00000295324 human ensembl 74_37 -1 known missense c.604 p.E202K 0.975 NULL pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP3 HGNC ENSG00000163171 88 0 0 47 18 27.6923 SRSF7 0 genome.wustl.edu 37 2 38975244 38975244 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 38975244 38975244 A T SNP SRSF7 ENST00000313117 human ensembl 74_37 -1 known missense c.517 p.S173T 1.000 NULL pfam_RRM_dom,superfamily_Znf_CCHC,smart_RRM_dom,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors SRSF7 HGNC ENSG00000115875 85 0 0 57 5 8.06452 DHX57 0 genome.wustl.edu 37 2 39083499 39083499 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 39083499 39083499 G A SNP DHX57 ENST00000295373 human ensembl 74_37 -1 known silent c.1692 p.V564 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RWD-domain,pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Znf_CCCH,superfamily_P-loop_NTPase,superfamily_UBA-like,superfamily_UBQ-conjugating_enzyme/RWD,smart_Znf_CCCH,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX57 HGNC ENSG00000163214 87 0 0 71 10 12.3457 SOS1 0 genome.wustl.edu 37 2 39222407 39222407 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 39222407 39222407 A T SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.3203 p.I1068N 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 128 0 0 105 7 6.25 MAP4K3 0 genome.wustl.edu 37 2 39481646 39481646 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 39481646 39481646 C A SNP MAP4K3 ENST00000263881 human ensembl 74_37 -1 known missense c.2486 p.S829I 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K3 HGNC ENSG00000011566 106 0 0 63 5 7.35294 EML4 0 genome.wustl.edu 37 2 42522632 42522632 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 42522632 42522632 C T SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.1465 p.P489S 0.979 superfamily_Quinonprotein_ADH-like_supfam pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 60 0 0 55 5 8.33333 KCNG3 0 genome.wustl.edu 37 2 42671387 42671387 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 42671387 42671387 G A SNP KCNG3 ENST00000306078 human ensembl 74_37 -1 known missense c.998 p.A333V 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv 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_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC ENSG00000171126 57 0 0 35 14 28.5714 HAAO 0 genome.wustl.edu 37 2 43015741 43015741 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 43015741 43015741 C T SNP HAAO ENST00000294973 human ensembl 74_37 -1 known silent c.87 p.Q29 0.352 pfam_3hydroanth_dOase,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase pfam_3hydroanth_dOase,pfam_Cupin_2,superfamily_RmlC_Cupin,pirsf_3hydroanth_dOase_met,tigrfam_3hydroanth_dOase - no_errors HAAO HGNC ENSG00000162882 78 0 0 83 8 8.79121 DYNC2LI1 0 genome.wustl.edu 37 2 44003961 44003961 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 44003961 44003961 A G SNP DYNC2LI1 ENST00000605786 human ensembl 74_37 +1 known missense c.49 p.R17G 0.753 NULL pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC2LI1 HGNC ENSG00000138036 90 0 0 66 6 8.33333 ABCG8 0 genome.wustl.edu 37 2 44104732 44104732 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 44104732 44104732 C T SNP ABCG8 ENST00000272286 human ensembl 74_37 +1 known missense c.1789 p.R597W 1.000 pfam_ABC_2_trans pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ENSG00000143921 109 0 0 95 8 7.76699 PPM1B 0 genome.wustl.edu 37 2 44436458 44436458 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 44436458 44436458 G A SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.956 p.R319Q 1.000 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 83 0 0 51 11 17.7419 PPM1B 0 genome.wustl.edu 37 2 44445160 44445160 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 44445160 44445160 G A SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.1019 p.R340H 1.000 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 180 0 0 120 11 8.39695 SLC3A1 0 genome.wustl.edu 37 2 44539794 44539794 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 44539794 44539794 C T SNP SLC3A1 ENST00000260649 human ensembl 74_37 +1 known missense c.1402 p.L468F 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A1 HGNC ENSG00000138079 106 0 0 67 4 5.6338 CAMKMT 0 genome.wustl.edu 37 2 44599930 44599930 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 44599930 44599930 T C SNP CAMKMT ENST00000378494 human ensembl 74_37 +1 known missense c.214 p.S72P 1.000 NULL pfam_Nicotinamide_N-MeTfrase-like - no_errors CAMKMT HGNC ENSG00000143919 90 0 0 56 3 5.08475 EPAS1 0 genome.wustl.edu 37 2 46605883 46605883 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 46605883 46605883 G A SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.1531 p.A511T 0.919 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 90 0 0 68 6 8.10811 CALM2 0 genome.wustl.edu 37 2 47389439 47389439 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 47389439 47389439 G A SNP CALM2 ENST00000272298 human ensembl 74_37 -1 known missense c.271 p.R91C 1.000 pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,pfam_EF-hand_Ca_insen,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors CALM2 HGNC ENSG00000143933 62 0 0 48 6 11.1111 FBXO11 0 genome.wustl.edu 37 2 48045997 48045997 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48045997 48045997 C T SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.1927 p.V643I 1.000 superfamily_F-box_dom,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 226 0 0 128 15 10.4895 FBXO11 0 genome.wustl.edu 37 2 48049367 48049367 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48049367 48049367 A G SNP FBXO11 ENST00000434523 human ensembl 74_37 -1 known missense c.59 p.M20T 1.000 NULL pfam_Znf_N-recognin,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 73 0 0 59 4 6.34921 FBXO11 0 genome.wustl.edu 37 2 48063100 48063100 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48063100 48063100 T C SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.628 p.M210V 1.000 superfamily_F-box_dom pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 81 0 0 52 4 7.14286 FBXO11 0 genome.wustl.edu 37 2 48066614 48066614 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48066614 48066614 T C SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.386 p.N129S 1.000 NULL pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 80 0 0 89 6 6.31579 PPP1R21 0 genome.wustl.edu 37 2 48681829 48681829 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48681829 48681829 A T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.222 p.E74D 1.000 pfam_Unchr_KLRAQ/TTKRSYEDQ_N pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 88 0 0 60 7 10.4478 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808804 48808804 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48808804 48808804 C T SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.1032 p.I344 1.000 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 109 0 0 75 26 25.7426 LHCGR 0 genome.wustl.edu 37 2 48925821 48925821 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48925821 48925821 T C SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.799 p.N267D 0.779 prints_TSH_rcpt pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 97 0 0 76 4 5 NRXN1 0 genome.wustl.edu 37 2 50850688 50850688 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 50850688 50850688 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.898 p.P300S 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 108 0 0 106 6 5.35714 NRXN1 0 genome.wustl.edu 37 2 51255150 51255150 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 51255150 51255150 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.262 p.R88C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 20 0 0 33 4 10.8108 GPR75-ASB3 0 genome.wustl.edu 37 2 53956630 53956630 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 53956630 53956630 A G SNP GPR75-ASB3 ENST00000352846 human ensembl 74_37 -1 known missense c.547 p.C183R 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors GPR75-ASB3 HGNC ENSG00000115239 106 0 0 98 8 7.54717 ERLEC1 0 genome.wustl.edu 37 2 54028595 54028595 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 54028595 54028595 G A SNP ERLEC1 ENST00000185150 human ensembl 74_37 +1 known missense c.587 p.G196D 1.000 pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors ERLEC1 HGNC ENSG00000068912 83 0 0 74 5 6.32911 PSME4 0 genome.wustl.edu 37 2 54117289 54117289 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 54117289 54117289 A T SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known silent c.4248 p.I1416 0.999 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 196 0 0 142 12 7.79221 PSME4 0 genome.wustl.edu 37 2 54163234 54163234 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 54163234 54163234 T A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.824 p.Y275F 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 181 0 0 135 17 11.1842 TSPYL6 0 genome.wustl.edu 37 2 54482364 54482364 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 54482364 54482364 T A SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.925 p.I309F 0.977 pfam_NAP_family pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 117 0 0 94 5 5.05051 TSPYL6 0 genome.wustl.edu 37 2 54482753 54482753 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 54482753 54482753 G A SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.536 p.A179V 0.000 NULL pfam_NAP_family - no_errors TSPYL6 HGNC ENSG00000178021 75 0 0 74 5 6.32911 CCDC88A 0 genome.wustl.edu 37 2 55561385 55561385 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 55561385 55561385 T A SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known nonsense c.2572 p.K858* 1.000 superfamily_Prefoldin pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 127 0 0 77 10 11.4943 CCDC104 0 genome.wustl.edu 37 2 55756032 55756032 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 55756032 55756032 T C SNP CCDC104 ENST00000339012 human ensembl 74_37 +1 known silent c.376 p.L126 0.728 pfam_ARF-like_2-bdp_dom pfam_ARF-like_2-bdp_dom - no_errors CCDC104 HGNC ENSG00000163001 77 0 0 43 17 28.3333 PNPT1 0 genome.wustl.edu 37 2 55863427 55863427 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 55863427 55863427 C G SNP PNPT1 ENST00000415374 human ensembl 74_37 -1 known missense c.2297 p.R766T 1.000 pirsf_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC ENSG00000138035 69 0 0 31 5 13.8889 EFEMP1 0 genome.wustl.edu 37 2 56108868 56108868 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 56108868 56108868 G A SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known silent c.519 p.D173 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 123 0 0 90 6 6.25 EFEMP1 0 genome.wustl.edu 37 2 56144864 56144864 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 56144864 56144864 G A SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known silent c.453 p.S151 0.984 NULL pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 113 0 0 109 7 6.03448 SOX11 0 genome.wustl.edu 37 2 5833108 5833108 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 5833108 5833108 G A SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known silent c.255 p.K85 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 57 0 0 40 16 28.5714 FANCL 0 genome.wustl.edu 37 2 58386904 58386904 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 58386904 58386904 T C SNP FANCL ENST00000233741 human ensembl 74_37 -1 known missense c.1124 p.H375R 0.987 NULL pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC ENSG00000115392 118 0 0 56 10 15.1515 FANCL 0 genome.wustl.edu 37 2 58392975 58392975 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 58392975 58392975 G C SNP FANCL ENST00000233741 human ensembl 74_37 -1 known missense c.575 p.A192G 1.000 pfam_FancL_WD-rpt_cont_dom pfam_FancL_WD-rpt_cont_dom - no_errors FANCL HGNC ENSG00000115392 91 0 0 74 7 8.64198 BCL11A 0 genome.wustl.edu 37 2 60688080 60688080 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 60688080 60688080 T C SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1967 p.Y656C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 66 0 0 72 8 10 REL 0 genome.wustl.edu 37 2 61145339 61145339 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61145339 61145339 T C SNP REL ENST00000295025 human ensembl 74_37 +1 known silent c.549 p.T183 0.996 superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors REL HGNC ENSG00000162924 59 0 0 44 7 13.7255 USP34 0 genome.wustl.edu 37 2 61475803 61475803 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61475803 61475803 T C SNP USP34 ENST00000398571 human ensembl 74_37 -1 known silent c.6237 p.K2079 1.000 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 120 0 0 72 12 14.2857 USP34 0 genome.wustl.edu 37 2 61575064 61575064 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61575064 61575064 T A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known silent c.2226 p.R742 0.990 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 80 0 0 74 11 12.9412 USP34 0 genome.wustl.edu 37 2 61607407 61607407 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61607407 61607407 A T SNP USP34 ENST00000398571 human ensembl 74_37 -1 known nonsense c.911 p.L304* 1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 67 0 0 42 3 6.66667 XPO1 0 genome.wustl.edu 37 2 61706036 61706036 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61706036 61706036 A G SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known silent c.3135 p.A1045 1.000 NULL pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 98 0 0 80 6 6.97674 XPO1 0 genome.wustl.edu 37 2 61719260 61719260 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61719260 61719260 G A SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known silent c.1797 p.F599 0.998 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 100 0 0 68 5 6.84932 XPO1 0 genome.wustl.edu 37 2 61719733 61719733 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61719733 61719733 T C SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.1535 p.D512G 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 94 0 0 63 9 12.5 XPO1 0 genome.wustl.edu 37 2 61722717 61722717 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 61722717 61722717 G A SNP XPO1 ENST00000401558 human ensembl 74_37 -1 known missense c.920 p.A307V 1.000 superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 96 0 0 44 10 18.5185 OTX1 0 genome.wustl.edu 37 2 63280175 63280175 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 63280175 63280175 T G SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known missense c.50 p.L17R 1.000 superfamily_Homeodomain-like pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 120 1 0.826446 103 15 12.7119 WDPCP 0 genome.wustl.edu 37 2 63712103 63712103 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 63712103 63712103 G A SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known missense c.272 p.T91M 0.993 pfam_DUF3312 pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 76 0 0 55 4 6.77966 UGP2 0 genome.wustl.edu 37 2 64114742 64114742 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 64114742 64114742 A G SNP UGP2 ENST00000337130 human ensembl 74_37 +1 known silent c.1278 p.T426 0.994 pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr pfam_UDPGP_trans,pirsf_UDPGP_trans_subgr - no_errors UGP2 HGNC ENSG00000169764 201 0 0 144 13 8.28025 AFTPH 0 genome.wustl.edu 37 2 64778626 64778626 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 64778626 64778626 T G SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.18 p.I6M 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 142 0 0 112 8 6.66667 AFTPH 0 genome.wustl.edu 37 2 64796799 64796799 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 64796799 64796799 T C SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.2257 p.Y753H 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 148 0 0 95 9 8.65385 ETAA1 0 genome.wustl.edu 37 2 67630573 67630573 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 67630573 67630573 G A SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known silent c.759 p.K253 0.001 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 153 0 0 98 9 8.41121 PNO1 0 genome.wustl.edu 37 2 68385539 68385539 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 68385539 68385539 C G SNP PNO1 ENST00000263657 human ensembl 74_37 +1 known missense c.235 p.P79A 0.712 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors PNO1 HGNC ENSG00000115946 124 0 0 80 26 24.5283 ARHGAP25 0 genome.wustl.edu 37 2 69009410 69009410 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 69009410 69009410 A G SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known missense c.307 p.N103D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 160 1 0.621118 137 14 9.27152 ARHGAP25 0 genome.wustl.edu 37 2 69049650 69049650 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 69049650 69049650 G A SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known missense c.1379 p.S460N 0.960 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 82 0 0 81 7 7.95455 BMP10 0 genome.wustl.edu 37 2 69093283 69093283 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 69093283 69093283 A G SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known missense c.755 p.L252S 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 77 0 0 51 3 5.55556 BMP10 0 genome.wustl.edu 37 2 69093671 69093671 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 69093671 69093671 G C SNP BMP10 ENST00000295379 human ensembl 74_37 -1 known missense c.367 p.L123V 0.990 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP10 HGNC ENSG00000163217 65 0 0 42 9 17.6471 ANTXR1 0 genome.wustl.edu 37 2 69300209 69300209 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 69300209 69300209 T A SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.468 p.D156E 0.989 pirsf_Anthrax_toxin_rcpt,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 139 0 0 115 14 10.8527 ANTXR1 0 genome.wustl.edu 37 2 69379379 69379379 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 69379379 69379379 C T SNP ANTXR1 ENST00000303714 human ensembl 74_37 +1 known missense c.1030 p.P344S 1.000 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR1 HGNC ENSG00000169604 118 0 0 109 16 12.8 AAK1 0 genome.wustl.edu 37 2 69708009 69708009 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 69708009 69708009 A G SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known missense c.2552 p.V851A 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 AAK1 HGNC ENSG00000115977 12 0 0 11 3 21.4286 C2orf42 0 genome.wustl.edu 37 2 70408456 70408456 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 70408456 70408456 C T SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known missense c.662 p.R221H 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 154 0 0 103 19 15.5738 C2orf42 0 genome.wustl.edu 37 2 70408477 70408477 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 70408477 70408477 C A SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known missense c.641 p.G214V 0.949 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 163 0 0 101 30 22.9008 ADD2 0 genome.wustl.edu 37 2 70890850 70890850 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 70890850 70890850 C T SNP ADD2 ENST00000264436 human ensembl 74_37 -1 known missense c.1888 p.E630K 0.995 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 62 0 0 65 5 7.14286 ADD2 0 genome.wustl.edu 37 2 70903857 70903857 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 70903857 70903857 C G SNP ADD2 ENST00000430656 human ensembl 74_37 -1 known missense c.1712 p.G571A 0.948 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD2 HGNC ENSG00000075340 16 0 0 15 4 21.0526 CLEC4F 0 genome.wustl.edu 37 2 71036894 71036894 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 71036894 71036894 T C SNP CLEC4F ENST00000272367 human ensembl 74_37 -1 known silent c.1635 p.P545 0.847 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC4F HGNC ENSG00000152672 72 0 0 84 5 5.61798 RNF144A 0 genome.wustl.edu 37 2 7137188 7137188 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 7137188 7137188 C T SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.131 p.T44I 1.000 pfscan_Znf_RING pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 66 0 0 47 15 24.1935 ZNF638 0 genome.wustl.edu 37 2 71625868 71625868 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 71625868 71625868 A G SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known silent c.2466 p.V822 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 389 0 0 286 20 6.53595 ZNF638 0 genome.wustl.edu 37 2 71660407 71660407 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 71660407 71660407 T A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.5865 p.N1955K 1.000 smart_Znf_U1,pfscan_Znf_C2H2_matrin pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 119 0 0 90 11 10.8911 DYSF 0 genome.wustl.edu 37 2 71795459 71795459 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 71795459 71795459 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.2894 p.P965L 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 260 0 0 222 26 10.4839 DYSF 0 genome.wustl.edu 37 2 71891479 71891479 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 71891479 71891479 C T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known silent c.5061 p.D1687 0.500 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 85 0 0 60 13 17.8082 SFXN5 0 genome.wustl.edu 37 2 73198777 73198777 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73198777 73198777 G A SNP SFXN5 ENST00000272433 human ensembl 74_37 -1 known silent c.663 p.Y221 0.903 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN5 HGNC ENSG00000144040 49 0 0 53 9 14.5161 CCT7 0 genome.wustl.edu 37 2 73476280 73476280 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73476280 73476280 T G SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.945 p.P315 0.986 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 54 0 0 39 4 9.30233 EGR4 0 genome.wustl.edu 37 2 73519364 73519364 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73519364 73519364 C T SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known missense c.991 p.A331T 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 19 0 0 5 4 44.4444 ALMS1 0 genome.wustl.edu 37 2 73646321 73646321 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73646321 73646321 G T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.521 p.R174M 0.003 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 117 0 0 56 17 23.2877 ALMS1 0 genome.wustl.edu 37 2 73679769 73679769 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73679769 73679769 C A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.6112 p.P2038T 0.382 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 158 1 0.628931 121 15 11.0294 ALMS1 0 genome.wustl.edu 37 2 73717072 73717072 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73717072 73717072 C A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.7983 p.F2661L 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 143 0 0 100 10 9.09091 ALMS1 0 genome.wustl.edu 37 2 73717193 73717193 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73717193 73717193 C T SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.8104 p.P2702S 0.003 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 176 0 0 136 16 10.5263 ALMS1 0 genome.wustl.edu 37 2 73717520 73717520 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73717520 73717520 T G SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.8431 p.L2811V 0.980 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 76 0 0 60 4 6.25 SLC4A5 0 genome.wustl.edu 37 2 74452027 74452027 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74452027 74452027 T C SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known silent c.3234 p.K1078 1.000 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 135 0 0 109 11 9.16667 SLC4A5 0 genome.wustl.edu 37 2 74482997 74482997 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74482997 74482997 G A SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known silent c.930 p.G310 0.033 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 39 0 0 54 5 8.47458 SLC4A5 0 genome.wustl.edu 37 2 74489328 74489328 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74489328 74489328 G A SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known silent c.747 p.G249 0.990 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 66 0 0 54 4 6.89655 WDR54 0 genome.wustl.edu 37 2 74652568 74652568 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74652568 74652568 T C SNP WDR54 ENST00000348227 human ensembl 74_37 +1 known missense c.823 p.F275L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR54 HGNC ENSG00000005448 103 0 0 108 13 10.7438 HTRA2 0 genome.wustl.edu 37 2 74759794 74759794 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74759794 74759794 G A SNP HTRA2 ENST00000258080 human ensembl 74_37 +1 known silent c.1164 p.Q388 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_Peptidase_S1,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA2 HGNC ENSG00000115317 59 0 0 56 9 13.8462 DOK1 0 genome.wustl.edu 37 2 74783646 74783646 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74783646 74783646 G A SNP DOK1 ENST00000233668 human ensembl 74_37 +1 known missense c.851 p.G284D 0.000 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 61 0 0 53 14 20.8955 M1AP 0 genome.wustl.edu 37 2 74789369 74789369 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74789369 74789369 T G SNP M1AP ENST00000290536 human ensembl 74_37 -1 known missense c.1256 p.H419P 0.085 NULL NULL - no_errors M1AP HGNC ENSG00000159374 123 0 0 105 16 13.2231 SEMA4F 0 genome.wustl.edu 37 2 74883728 74883728 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74883728 74883728 T C SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known silent c.213 p.D71 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 98 0 0 113 10 8.13008 EVA1A 0 genome.wustl.edu 37 2 75720435 75720435 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 75720435 75720435 C T SNP EVA1A ENST00000233712 human ensembl 74_37 -1 known missense c.386 p.R129H 1.000 NULL NULL - no_errors EVA1A HGNC ENSG00000115363 78 0 0 70 6 7.89474 REG1A 0 genome.wustl.edu 37 2 79349971 79349971 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 79349971 79349971 G A SNP REG1A ENST00000233735 human ensembl 74_37 +1 known missense c.326 p.R109H 0.865 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC ENSG00000115386 116 0 0 113 6 5.04202 CTNNA2 0 genome.wustl.edu 37 2 80136866 80136866 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 80136866 80136866 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1101 p.A367 0.985 NULL pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 76 0 0 60 13 17.8082 LRRTM1 0 genome.wustl.edu 37 2 80529659 80529659 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 80529659 80529659 A T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1286 p.V429D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 56 0 0 53 5 8.62069 LRRTM1 0 genome.wustl.edu 37 2 80529813 80529813 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 80529813 80529813 C T SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.1132 p.V378I 0.771 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 29 0 0 22 4 15.3846 LRRTM1 0 genome.wustl.edu 37 2 80530309 80530309 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 80530309 80530309 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.636 p.T212 0.079 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 113 0 0 77 24 23.7624 LRRTM1 0 genome.wustl.edu 37 2 80530481 80530481 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 80530481 80530481 T C SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.464 p.D155G 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 83 0 0 65 10 13.3333 LRRTM1 0 genome.wustl.edu 37 2 80530587 80530587 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 80530587 80530587 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.358 p.L120 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 99 0 0 90 14 13.4615 TGOLN2 0 genome.wustl.edu 37 2 85553786 85553786 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 85553786 85553786 C T SNP TGOLN2 ENST00000377386 human ensembl 74_37 -1 known missense c.1069 p.G357R 0.005 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 116 0 0 91 14 13.3333 GGCX 0 genome.wustl.edu 37 2 85785695 85785695 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 85785695 85785695 C T SNP GGCX ENST00000233838 human ensembl 74_37 -1 known missense c.407 p.R136Q 1.000 pfam_VKG_COase,smart_HTTM pfam_VKG_COase,superfamily_RmlC_Cupin,smart_HTTM - no_errors GGCX HGNC ENSG00000115486 69 0 0 73 4 5.19481 SFTPB 0 genome.wustl.edu 37 2 85894843 85894843 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 85894843 85894843 G T SNP SFTPB ENST00000393822 human ensembl 74_37 -1 known missense c.190 p.L64I 0.999 pfam_SapA,smart_SapA,pfscan_SapA pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 133 0 0 129 10 7.19424 POLR1A 0 genome.wustl.edu 37 2 86280054 86280054 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 86280054 86280054 C T SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.2278 p.G760S 1.000 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 39 0 0 47 7 12.963 PTCD3 0 genome.wustl.edu 37 2 86352157 86352157 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 86352157 86352157 A G SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known silent c.756 p.P252 0.998 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 67 0 0 60 5 7.69231 PTCD3 0 genome.wustl.edu 37 2 86352159 86352159 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 86352159 86352159 A G SNP PTCD3 ENST00000254630 human ensembl 74_37 +1 known missense c.758 p.E253G 1.000 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 68 0 0 54 9 14.2857 CD8B 0 genome.wustl.edu 37 2 87042828 87042828 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 87042828 87042828 C A SNP CD8B ENST00000331469 human ensembl 74_37 -1 known missense c.634 p.G212C 0.016 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD8B HGNC ENSG00000172116 267 1 0.373134 255 30 10.5263 SMYD1 0 genome.wustl.edu 37 2 88384012 88384012 + Splice_Site SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 88384012 88384012 G C SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known splice_site c.314+1 e2+1 1.000 - - - no_errors SMYD1 HGNC ENSG00000115593 43 0 0 33 10 23.2558 SMYD1 0 genome.wustl.edu 37 2 88390634 88390634 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 88390634 88390634 A G SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.632 p.N211S 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 145 0 0 120 13 9.77444 FABP1 0 genome.wustl.edu 37 2 88425860 88425860 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 88425860 88425860 C T SNP FABP1 ENST00000295834 human ensembl 74_37 -1 known silent c.75 p.P25 0.260 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP1 HGNC ENSG00000163586 207 0 0 158 38 19.3878 KIDINS220 0 genome.wustl.edu 37 2 8871208 8871208 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 8871208 8871208 G T SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.4958 p.P1653H 1.000 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 115 1 0.862069 78 8 9.30233 TEX37 0 genome.wustl.edu 37 2 88828944 88828944 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 88828944 88828944 G T SNP TEX37 ENST00000303254 human ensembl 74_37 +1 known missense c.495 p.K165N 0.944 NULL NULL - no_errors TEX37 HGNC ENSG00000172073 68 0 0 66 12 15.3846 EIF2AK3 0 genome.wustl.edu 37 2 88874529 88874529 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 88874529 88874529 A G SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known silent c.2472 p.T824 0.000 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,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 166 0 0 118 11 8.52713 EIF2AK3 0 genome.wustl.edu 37 2 88885468 88885468 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 88885468 88885468 T A SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1541 p.D514V 0.999 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 141 0 0 120 14 10.4478 KIDINS220 0 genome.wustl.edu 37 2 8919145 8919145 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 8919145 8919145 T A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.2495 p.D832V 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 219 0 0 182 14 7.14286 KIDINS220 0 genome.wustl.edu 37 2 8934031 8934031 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 8934031 8934031 T A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known silent c.1185 p.R395 0.022 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 106 0 0 62 11 15.0685 ASAP2 0 genome.wustl.edu 37 2 9531284 9531284 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 9531284 9531284 C A SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.2477 p.A826D 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 148 0 0 139 15 9.74026 ZNF514 0 genome.wustl.edu 37 2 95818505 95818505 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 95818505 95818505 A G SNP ZNF514 ENST00000295208 human ensembl 74_37 -1 known missense c.131 p.V44A 0.064 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 231 0 0 208 16 7.14286 ZNF2 0 genome.wustl.edu 37 2 95847534 95847534 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 95847534 95847534 A G SNP ZNF2 ENST00000340539 human ensembl 74_37 +1 known missense c.961 p.K321E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ENSG00000163067 73 0 0 75 12 13.7931 PROM2 0 genome.wustl.edu 37 2 95947020 95947020 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 95947020 95947020 A G SNP PROM2 ENST00000317620 human ensembl 74_37 +1 known silent c.1458 p.A486 0.013 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC ENSG00000155066 88 0 0 88 7 7.36842 ADRA2B 0 genome.wustl.edu 37 2 96781266 96781266 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 96781266 96781266 C A SNP ADRA2B ENST00000409345 human ensembl 74_37 -1 known missense c.623 p.R208M 0.491 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2B_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2B HGNC ENSG00000222040 32 0 0 33 4 10.8108 TMEM127 0 genome.wustl.edu 37 2 96920595 96920595 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 96920595 96920595 A G SNP TMEM127 ENST00000258439 human ensembl 74_37 -1 known missense c.385 p.Y129H 1.000 NULL NULL - no_errors TMEM127 HGNC ENSG00000135956 143 0 0 159 9 5.35714 LMAN2L 0 genome.wustl.edu 37 2 97377612 97377612 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 97377612 97377612 T A SNP LMAN2L ENST00000377079 human ensembl 74_37 -1 known missense c.691 p.R231W 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN2L HGNC ENSG00000114988 72 0 0 77 10 11.4943 CNNM3 0 genome.wustl.edu 37 2 97490873 97490873 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 97490873 97490873 T A SNP CNNM3 ENST00000305510 human ensembl 74_37 +1 known missense c.1304 p.V435D 1.000 superfamily_RNA_pol_subH/Rpb5_C pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like - no_errors CNNM3 HGNC ENSG00000168763 38 0 0 42 5 10.6383 CNNM3 0 genome.wustl.edu 37 2 97493602 97493602 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 97493602 97493602 A G SNP CNNM3 ENST00000305510 human ensembl 74_37 +1 known missense c.1654 p.S552G 1.000 superfamily_cNMP-bd-like pfam_DUF21,superfamily_RNA_pol_subH/Rpb5_C,superfamily_cNMP-bd-like - no_errors CNNM3 HGNC ENSG00000168763 49 0 0 64 9 12.3288 SEMA4C 0 genome.wustl.edu 37 2 97527061 97527061 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 97527061 97527061 A T SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.1804 p.S602T 0.514 smart_Ig_sub,pfscan_Ig-like_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 30 0 0 38 3 7.31707 ANKRD36B 0 genome.wustl.edu 37 2 98175328 98175328 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 98175328 98175328 T C SNP ANKRD36B ENST00000419390 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors ANKRD36B HGNC ENSG00000196912 70 0 0 45 5 10 ACTR1B 0 genome.wustl.edu 37 2 98275349 98275349 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 98275349 98275349 G T SNP ACTR1B ENST00000289228 human ensembl 74_37 -1 known missense c.433 p.L145I 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1B HGNC ENSG00000115073 110 0 0 99 15 13.1579 ACTR1B 0 genome.wustl.edu 37 2 98275934 98275934 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 98275934 98275934 G A SNP ACTR1B ENST00000289228 human ensembl 74_37 -1 known missense c.196 p.R66W 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1B HGNC ENSG00000115073 181 1 0.549451 203 17 7.72727 LIPT1 0 genome.wustl.edu 37 2 99778419 99778419 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 99778419 99778419 G A SNP LIPT1 ENST00000340066 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors LIPT1 HGNC ENSG00000144182 61 0 0 23 6 20.6897 TXNDC9 0 genome.wustl.edu 37 2 99944055 99944055 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 99944055 99944055 T C SNP TXNDC9 ENST00000264255 human ensembl 74_37 -1 known missense c.251 p.Q84R 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC9 HGNC ENSG00000115514 99 0 0 63 30 32.2581 ANKEF1 0 genome.wustl.edu 37 20 10019012 10019012 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 10019012 10019012 G A SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known silent c.63 p.R21 0.816 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 70 0 0 49 5 9.25926 MKKS 0 genome.wustl.edu 37 20 10393240 10393240 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 10393240 10393240 T C SNP MKKS ENST00000347364 human ensembl 74_37 -1 known missense c.923 p.H308R 0.622 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors MKKS HGNC ENSG00000125863 140 0 0 95 8 7.76699 MKKS 0 genome.wustl.edu 37 20 10393443 10393443 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 10393443 10393443 C A SNP MKKS ENST00000347364 human ensembl 74_37 -1 known missense c.720 p.K240N 0.997 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors MKKS HGNC ENSG00000125863 96 0 0 82 6 6.81818 SLX4IP 0 genome.wustl.edu 37 20 10541418 10541418 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 10541418 10541418 A G SNP SLX4IP ENST00000334534 human ensembl 74_37 +1 known missense c.188 p.H63R 0.077 NULL NULL - no_errors SLX4IP HGNC ENSG00000149346 61 0 0 52 7 11.8644 JAG1 0 genome.wustl.edu 37 20 10621534 10621534 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 10621534 10621534 A G SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known silent c.3096 p.T1032 0.006 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 79 0 0 71 4 5.33333 JAG1 0 genome.wustl.edu 37 20 10625789 10625789 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 10625789 10625789 A G SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known splice_site c.2227+2 e17+2 1.000 - - - no_errors JAG1 HGNC ENSG00000101384 64 0 0 48 3 5.88235 TMEM74B 0 genome.wustl.edu 37 20 1161600 1161600 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 1161600 1161600 G A SNP TMEM74B ENST00000381894 human ensembl 74_37 -1 known silent c.663 p.G221 1.000 NULL NULL - no_errors TMEM74B HGNC ENSG00000125895 80 0 0 77 6 7.22892 SNPH 0 genome.wustl.edu 37 20 1281356 1281356 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 1281356 1281356 G A SNP SNPH ENST00000381867 human ensembl 74_37 +1 known splice_site c.440+1 e3+1 1.000 - - - no_errors SNPH HGNC ENSG00000101298 22 0 0 17 3 15 SPTLC3 0 genome.wustl.edu 37 20 13098372 13098372 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 13098372 13098372 G A SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known silent c.1152 p.K384 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 76 0 0 71 5 6.57895 ISM1 0 genome.wustl.edu 37 20 13260305 13260305 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 13260305 13260305 C A SNP ISM1 ENST00000262487 human ensembl 74_37 +1 known missense c.403 p.P135T 1.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM1 HGNC ENSG00000101230 22 0 0 29 3 9.375 KIF16B 0 genome.wustl.edu 37 20 16496226 16496226 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 16496226 16496226 T C SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known silent c.315 p.G105 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 64 0 0 55 3 5.17241 OTOR 0 genome.wustl.edu 37 20 16729574 16729574 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 16729574 16729574 G A SNP OTOR ENST00000246081 human ensembl 74_37 +1 known missense c.178 p.V60I 0.141 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 70 0 0 44 13 22.807 SNX5 0 genome.wustl.edu 37 20 17930823 17930823 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 17930823 17930823 T C SNP SNX5 ENST00000377759 human ensembl 74_37 -1 known silent c.744 p.A248 1.000 pfam_Vps5_C,pirsf_Snx5_Snx6 pfam_Phox,pfam_Vps5_C,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox - no_errors SNX5 HGNC ENSG00000089006 89 0 0 76 7 8.43373 MGME1 0 genome.wustl.edu 37 20 17970645 17970645 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 17970645 17970645 G A SNP MGME1 ENST00000377710 human ensembl 74_37 +1 known missense c.928 p.D310N 0.999 NULL superfamily_Restrct_endonuc-II-like - no_errors MGME1 HGNC ENSG00000125871 140 0 0 110 10 8.33333 OVOL2 0 genome.wustl.edu 37 20 18005394 18005394 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 18005394 18005394 C T SNP OVOL2 ENST00000278780 human ensembl 74_37 -1 known silent c.714 p.P238 0.101 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC ENSG00000125850 39 0 0 40 7 14.8936 CSRP2BP 0 genome.wustl.edu 37 20 18163876 18163876 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 18163876 18163876 T C SNP CSRP2BP ENST00000435364 human ensembl 74_37 +1 known missense c.1918 p.Y640H 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 181 0 0 140 12 7.89474 POLR3F 0 genome.wustl.edu 37 20 18464126 18464126 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 18464126 18464126 T G SNP POLR3F ENST00000377603 human ensembl 74_37 +1 known missense c.875 p.V292G 1.000 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34 - no_errors POLR3F HGNC ENSG00000132664 43 0 0 33 4 10.8108 SEC23B 0 genome.wustl.edu 37 20 18523773 18523773 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 18523773 18523773 G T SNP SEC23B ENST00000262544 human ensembl 74_37 +1 known missense c.1622 p.G541V 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23B HGNC ENSG00000101310 158 0 0 112 22 16.4179 SIRPA 0 genome.wustl.edu 37 20 1902223 1902223 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 1902223 1902223 T A SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.619 p.Y207N 1.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 104 0 0 110 10 8.33333 SIRPA 0 genome.wustl.edu 37 20 1918072 1918072 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 1918072 1918072 C G SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.1385 p.T462S 0.009 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 74 0 0 86 6 6.52174 SIRPA 0 genome.wustl.edu 37 20 1918165 1918165 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 1918165 1918165 C T SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.1478 p.P493L 0.994 NULL pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 85 0 0 73 12 14.1176 RIN2 0 genome.wustl.edu 37 20 19981487 19981487 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 19981487 19981487 G A SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known silent c.2742 p.Q914 0.944 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 63 0 0 43 15 25.8621 CRNKL1 0 genome.wustl.edu 37 20 20020360 20020360 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 20020360 20020360 T C SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.1921 p.T641A 1.000 smart_HAT pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 165 0 0 113 13 10.3175 CRNKL1 0 genome.wustl.edu 37 20 20029028 20029028 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 20029028 20029028 C T SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known nonsense c.897 p.W299* 1.000 pfam_Suf,smart_HAT,pfscan_TPR-contain_dom pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 120 0 0 71 15 17.4419 C20orf26 0 genome.wustl.edu 37 20 20258096 20258096 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 20258096 20258096 G T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.2790 p.Q930H 0.126 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 78 0 0 84 8 8.69565 RALGAPA2 0 genome.wustl.edu 37 20 20392719 20392719 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 20392719 20392719 C T SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.5569 p.A1857T 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 137 0 0 110 11 9.09091 RALGAPA2 0 genome.wustl.edu 37 20 20493484 20493484 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 20493484 20493484 G A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.4529 p.S1510F 0.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 122 0 0 83 10 10.7527 XRN2 0 genome.wustl.edu 37 20 21314803 21314803 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 21314803 21314803 A T SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known nonsense c.1213 p.K405* 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 61 0 0 45 4 8.16327 XRN2 0 genome.wustl.edu 37 20 21367535 21367535 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 21367535 21367535 G T SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.2678 p.W893L 1.000 pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 146 0 0 132 14 9.58904 NKX2-2 0 genome.wustl.edu 37 20 21494135 21494135 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 21494135 21494135 C T SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known missense c.173 p.S58N 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 25 0 0 31 3 8.82353 PAX1 0 genome.wustl.edu 37 20 21687524 21687524 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 21687524 21687524 G A SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.735 p.T245 0.948 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 30 0 0 40 13 24.5283 FOXA2 0 genome.wustl.edu 37 20 22563705 22563705 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 22563705 22563705 T C SNP FOXA2 ENST00000419308 human ensembl 74_37 -1 known missense c.175 p.S59G 1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA2 HGNC ENSG00000125798 99 0 0 89 12 11.8812 TGM3 0 genome.wustl.edu 37 20 2291695 2291695 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 2291695 2291695 G A SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.460 p.E154K 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 148 0 0 128 12 8.57143 SSTR4 0 genome.wustl.edu 37 20 23016554 23016554 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 23016554 23016554 A G SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.434 p.Y145C 0.994 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 71 0 0 79 5 5.95238 THBD 0 genome.wustl.edu 37 20 23028480 23028480 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 23028480 23028480 G A SNP THBD ENST00000377103 human ensembl 74_37 -1 known silent c.1662 p.C554 0.088 pirsf_CD93/CD141,prints_Thrombomodulin pirsf_CD93/CD141,pfam_Tme5_EGF-like,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,prints_Thrombomodulin,pfscan_C-type_lectin - no_errors THBD HGNC ENSG00000178726 18 0 0 11 3 21.4286 GZF1 0 genome.wustl.edu 37 20 23346229 23346229 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 23346229 23346229 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known silent c.1209 p.G403 0.002 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 120 0 0 88 6 6.38298 CST8 0 genome.wustl.edu 37 20 23473618 23473618 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 23473618 23473618 T C SNP CST8 ENST00000246012 human ensembl 74_37 +1 known silent c.255 p.L85 0.015 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST8 HGNC ENSG00000125815 267 0 0 188 20 9.61538 TGM6 0 genome.wustl.edu 37 20 2411625 2411625 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 2411625 2411625 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1919 p.A640V 0.861 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 85 0 0 82 23 21.9048 CST7 0 genome.wustl.edu 37 20 24930101 24930101 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 24930101 24930101 G A SNP CST7 ENST00000376835 human ensembl 74_37 +1 known missense c.26 p.G9D 0.002 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST7 HGNC ENSG00000077984 47 0 0 61 13 17.5676 PYGB 0 genome.wustl.edu 37 20 25259027 25259027 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 25259027 25259027 C T SNP PYGB ENST00000216962 human ensembl 74_37 +1 known missense c.928 p.R310C 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGB HGNC ENSG00000100994 60 0 0 51 9 15 ABHD12 0 genome.wustl.edu 37 20 25319884 25319884 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 25319884 25319884 T C SNP ABHD12 ENST00000376542 human ensembl 74_37 -1 known missense c.295 p.K99E 1.000 NULL pfam_AB_hydrolase_1,pfam_AB_hydrolase_3 - no_errors ABHD12 HGNC ENSG00000100997 75 0 0 52 10 16.129 GINS1 0 genome.wustl.edu 37 20 25388408 25388408 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 25388408 25388408 G A SNP GINS1 ENST00000484893 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GINS1 HGNC ENSG00000101003 12 0 0 15 2 11.7647 GINS1 0 genome.wustl.edu 37 20 25405924 25405924 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 25405924 25405924 T C SNP GINS1 ENST00000262460 human ensembl 74_37 +1 known silent c.408 p.I136 0.548 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 89 0 0 61 9 12.8571 NINL 0 genome.wustl.edu 37 20 25456724 25456724 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 25456724 25456724 A G SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.3203 p.V1068A 0.007 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 106 0 0 106 13 10.9244 SNORD86 0 genome.wustl.edu 37 20 2636755 2636755 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 2636755 2636755 G T SNP SNORD86 ENST00000391196 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD86 HGNC ENSG00000212498 33 0 0 37 7 15.9091 PCED1A 0 genome.wustl.edu 37 20 2819100 2819100 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 2819100 2819100 G A SNP PCED1A ENST00000360652 human ensembl 74_37 -1 known missense c.619 p.R207W 1.000 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 64 0 0 77 5 6.09756 PTPRA 0 genome.wustl.edu 37 20 2968692 2968692 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 2968692 2968692 A G SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.575 p.K192R 1.000 pirsf_Tyr_Pase_rcpt_a/e-type pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRA HGNC ENSG00000132670 192 0 0 149 14 8.58896 HM13 0 genome.wustl.edu 37 20 30115329 30115329 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30115329 30115329 G A SNP HM13 ENST00000398174 human ensembl 74_37 +1 known missense c.226 p.A76T 1.000 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors HM13 HGNC ENSG00000101294 154 0 0 128 15 10.4895 COX4I2 0 genome.wustl.edu 37 20 30231252 30231252 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30231252 30231252 G A SNP COX4I2 ENST00000376075 human ensembl 74_37 +1 known missense c.293 p.R98H 0.997 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC ENSG00000131055 80 0 0 61 33 35.1064 COX4I2 0 genome.wustl.edu 37 20 30231301 30231301 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30231301 30231301 A T SNP COX4I2 ENST00000376075 human ensembl 74_37 +1 known silent c.342 p.G114 0.998 pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam pfam_Cyt_c_oxidase_su4_fam,superfamily_Cyt_c_oxidase_su4_fam,prints_Cyt_c_oxidase_su4 - no_errors COX4I2 HGNC ENSG00000131055 64 0 0 58 4 6.45161 TTLL9 0 genome.wustl.edu 37 20 30486365 30486365 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30486365 30486365 A C SNP TTLL9 ENST00000375938 human ensembl 74_37 +1 known missense c.203 p.K68T 0.997 NULL pfam_TTL/TTLL_fam - no_errors TTLL9 HGNC ENSG00000131044 61 0 0 46 8 14.8148 XKR7 0 genome.wustl.edu 37 20 30556122 30556122 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30556122 30556122 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known silent c.144 p.P48 0.990 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 11 0 0 12 6 33.3333 XKR7 0 genome.wustl.edu 37 20 30584555 30584555 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30584555 30584555 A G SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known silent c.1035 p.Q345 0.986 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 53 0 0 48 8 14.2857 XKR7 0 genome.wustl.edu 37 20 30585102 30585102 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30585102 30585102 C T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1582 p.P528S 1.000 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 73 0 0 92 8 8 CCM2L 0 genome.wustl.edu 37 20 30610484 30610484 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30610484 30610484 G A SNP CCM2L ENST00000300415 human ensembl 74_37 +1 known missense c.955 p.A319T 0.484 NULL NULL - no_errors CCM2L HGNC ENSG00000101331 126 0 0 103 21 16.9355 ASXL1 0 genome.wustl.edu 37 20 31024914 31024914 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 31024914 31024914 C A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.4399 p.L1467I 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 76 0 0 57 5 8.06452 C20orf112 0 genome.wustl.edu 37 20 31041214 31041214 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 31041214 31041214 T C SNP C20orf112 ENST00000359676 human ensembl 74_37 -1 known missense c.658 p.I220V 1.000 NULL NULL - no_errors C20orf112 HGNC ENSG00000197183 61 0 0 67 5 6.94444 BPIFB4 0 genome.wustl.edu 37 20 31676772 31676772 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 31676772 31676772 G A SNP BPIFB4 ENST00000445356 human ensembl 74_37 +1 known missense c.107 p.G36D 0.867 NULL NULL - no_errors BPIFB4 HGNC ENSG00000186191 165 0 0 165 15 8.33333 BPIFA1 0 genome.wustl.edu 37 20 31825664 31825664 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 31825664 31825664 A G SNP BPIFA1 ENST00000354297 human ensembl 74_37 +1 known silent c.147 p.G49 0.008 NULL pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 84 0 0 77 7 8.33333 BPIFA1 0 genome.wustl.edu 37 20 31825986 31825986 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 31825986 31825986 A G SNP BPIFA1 ENST00000354297 human ensembl 74_37 +1 known missense c.286 p.T96A 0.023 pfam_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom - no_errors BPIFA1 HGNC ENSG00000198183 108 0 0 92 9 8.91089 CDK5RAP1 0 genome.wustl.edu 37 20 31982904 31982904 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 31982904 31982904 C T SNP CDK5RAP1 ENST00000357886 human ensembl 74_37 -1 known missense c.323 p.G108D 1.000 pfam_Methylthiotransferase_N,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 103 0 0 85 38 30.8943 C20orf194 0 genome.wustl.edu 37 20 3262381 3262381 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 3262381 3262381 G A SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.2518 p.L840 0.906 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 107 0 0 90 5 5.26316 RALY 0 genome.wustl.edu 37 20 32660018 32660018 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 32660018 32660018 C A SNP RALY ENST00000246194 human ensembl 74_37 +1 known silent c.138 p.G46 1.000 pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 117 0 0 110 9 7.56303 ASIP 0 genome.wustl.edu 37 20 32848253 32848253 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 32848253 32848253 C T SNP ASIP ENST00000374954 human ensembl 74_37 +1 known missense c.73 p.P25S 0.970 pfam_Agouti,smart_Agouti pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom - no_errors ASIP HGNC ENSG00000101440 128 0 0 130 14 9.72222 ITCH 0 genome.wustl.edu 37 20 33026406 33026406 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33026406 33026406 C T SNP ITCH ENST00000262650 human ensembl 74_37 +1 known nonsense c.772 p.R258* 0.993 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors ITCH HGNC ENSG00000078747 114 0 0 84 8 8.69565 ITCH 0 genome.wustl.edu 37 20 33077191 33077191 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33077191 33077191 G C SNP ITCH ENST00000262650 human ensembl 74_37 +1 known missense c.2337 p.E779D 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors ITCH HGNC ENSG00000078747 97 0 0 85 11 11.4583 DYNLRB1 0 genome.wustl.edu 37 20 33122545 33122545 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33122545 33122545 G A SNP DYNLRB1 ENST00000417166 human ensembl 74_37 +1 known missense c.193 p.D65N 1.000 pfam_Dynein_light-rel,smart_Dynein_light-rel pfam_Dynein_light-rel,smart_Dynein_light-rel - no_errors DYNLRB1 HGNC ENSG00000125971 65 0 0 56 4 6.66667 PIGU 0 genome.wustl.edu 37 20 33222471 33222471 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33222471 33222471 G T SNP PIGU ENST00000217446 human ensembl 74_37 -1 known silent c.477 p.T159 1.000 NULL pfam_PIG-U - no_errors PIGU HGNC ENSG00000101464 55 0 0 49 4 7.54717 NCOA6 0 genome.wustl.edu 37 20 33328893 33328893 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33328893 33328893 C G SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.5167 p.A1723P 0.999 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 136 0 0 143 9 5.92105 ACSS2 0 genome.wustl.edu 37 20 33509131 33509131 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33509131 33509131 A G SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known splice_site c.1317-2 e12-2 1.000 - - - no_errors ACSS2 HGNC ENSG00000131069 88 0 0 93 10 9.70874 ACSS2 0 genome.wustl.edu 37 20 33514025 33514025 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33514025 33514025 T A SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.1883 p.V628D 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 72 0 0 68 8 10.5263 MYH7B 0 genome.wustl.edu 37 20 33581008 33581008 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33581008 33581008 T C SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.2413 p.Y805H 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 59 0 0 50 5 9.09091 MYH7B 0 genome.wustl.edu 37 20 33582006 33582006 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33582006 33582006 G A SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel nonsense c.2628 p.W876* 1.000 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 166 0 0 138 12 8 EDEM2 0 genome.wustl.edu 37 20 33706412 33706412 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33706412 33706412 C T SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known missense c.1225 p.G409R 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 67 0 0 50 9 15.2542 FAM83C 0 genome.wustl.edu 37 20 33879869 33879869 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33879869 33879869 T C SNP FAM83C ENST00000374408 human ensembl 74_37 -1 known missense c.239 p.Y80C 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83C HGNC ENSG00000125998 45 0 0 41 5 10.8696 UQCC1 0 genome.wustl.edu 37 20 33981905 33981905 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 33981905 33981905 C T SNP UQCC1 ENST00000374385 human ensembl 74_37 -1 known missense c.119 p.R40H 0.992 NULL pfam_Ubiq_cyt_c_chap/UPF0174 - no_errors UQCC1 HGNC ENSG00000101019 131 0 0 94 14 12.963 GDF5 0 genome.wustl.edu 37 20 34022040 34022040 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 34022040 34022040 T C SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known silent c.1173 p.R391 0.997 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 135 1 0.735294 145 12 7.64331 ERGIC3 0 genome.wustl.edu 37 20 34143804 34143804 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 34143804 34143804 A T SNP ERGIC3 ENST00000447986 human ensembl 74_37 +1 known missense c.763 p.I255F 1.000 pfam_Erv_C pfam_Erv_C - no_errors ERGIC3 HGNC ENSG00000125991 182 0 0 171 11 6.04396 RBM12 0 genome.wustl.edu 37 20 34241387 34241387 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 34241387 34241387 T C SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known missense c.1858 p.T620A 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 162 0 0 179 23 11.3861 RBM12 0 genome.wustl.edu 37 20 34242789 34242789 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 34242789 34242789 T C SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known silent c.456 p.T152 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 124 0 0 103 14 11.9658 EPB41L1 0 genome.wustl.edu 37 20 34770226 34770226 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 34770226 34770226 T G SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.523 p.F175V 1.000 pfam_FERM_N,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 60 0 0 65 5 7.14286 DLGAP4 0 genome.wustl.edu 37 20 35071143 35071143 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 35071143 35071143 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1370 p.A457V 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 780 0 0 741 67 8.29208 DLGAP4 0 genome.wustl.edu 37 20 35075206 35075206 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 35075206 35075206 A T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1514 p.Y505F 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 16 0 0 21 4 16 DLGAP4 0 genome.wustl.edu 37 20 35125394 35125394 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 35125394 35125394 A G SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.1935 p.E645 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 45 0 0 49 6 10.9091 C20orf24 0 genome.wustl.edu 37 20 35240458 35240458 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 35240458 35240458 T C SNP C20orf24 ENST00000342422 human ensembl 74_37 +1 putative silent c.264 p.G88 0.002 NULL NULL - no_errors C20orf24 HGNC ENSG00000101084 332 0 0 284 25 8.09061 VSTM2L 0 genome.wustl.edu 37 20 36572479 36572479 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 36572479 36572479 T C SNP VSTM2L ENST00000373461 human ensembl 74_37 +1 known missense c.439 p.F147L 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2L HGNC ENSG00000132821 18 0 0 25 4 13.7931 TTI1 0 genome.wustl.edu 37 20 36641206 36641206 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 36641206 36641206 C T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known missense c.1013 p.G338E 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 164 0 0 153 9 5.55556 TGM2 0 genome.wustl.edu 37 20 36767989 36767989 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 36767989 36767989 A G SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.1167 p.D389 0.990 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 61 0 0 45 11 19.6429 KIAA1755 0 genome.wustl.edu 37 20 36869061 36869061 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 36869061 36869061 A T SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.1472 p.L491H 0.023 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 86 0 0 67 9 11.8421 TRIB3 0 genome.wustl.edu 37 20 372148 372148 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 372148 372148 T C SNP TRIB3 ENST00000422053 human ensembl 74_37 +1 known missense c.590 p.L197P 0.995 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors TRIB3 HGNC ENSG00000101255 29 0 0 36 3 7.69231 SLC32A1 0 genome.wustl.edu 37 20 37356555 37356555 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 37356555 37356555 A G SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.851 p.Y284C 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 55 0 0 40 4 9.09091 SLC32A1 0 genome.wustl.edu 37 20 37356738 37356738 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 37356738 37356738 T C SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known missense c.1034 p.I345T 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 53 0 0 48 3 5.88235 SLC32A1 0 genome.wustl.edu 37 20 37356973 37356973 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 37356973 37356973 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.1269 p.S423 0.980 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 31 0 0 40 4 9.09091 PANK2 0 genome.wustl.edu 37 20 3888740 3888740 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 3888740 3888740 G A SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known missense c.796 p.V266M 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 120 0 0 104 24 18.75 PANK2 0 genome.wustl.edu 37 20 3899434 3899434 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 3899434 3899434 G A SNP PANK2 ENST00000316562 human ensembl 74_37 +1 known silent c.1653 p.S551 0.752 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK2 HGNC ENSG00000125779 371 0 0 215 75 25.8621 TOP1 0 genome.wustl.edu 37 20 39690105 39690105 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 39690105 39690105 C T SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known missense c.130 p.R44W 1.000 NULL pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 28 0 0 16 6 27.2727 TOP1 0 genome.wustl.edu 37 20 39744080 39744080 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 39744080 39744080 G A SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known splice_site c.1707+1 e16+1 1.000 - - - no_errors TOP1 HGNC ENSG00000198900 74 0 0 46 10 17.8571 PLCG1 0 genome.wustl.edu 37 20 39792036 39792036 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 39792036 39792036 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.808 p.R270C 0.597 pfam_PLipase_C_EF-hand-like,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 65 0 0 54 11 16.9231 PLCG1 0 genome.wustl.edu 37 20 39798806 39798806 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 39798806 39798806 C T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.2705 p.A902V 0.806 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 97 0 0 108 12 10 ZHX3 0 genome.wustl.edu 37 20 39831411 39831411 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 39831411 39831411 T A SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.2146 p.I716F 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 122 0 0 108 12 10 ZHX3 0 genome.wustl.edu 37 20 39832356 39832356 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 39832356 39832356 T C SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.1201 p.N401D 0.592 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 107 0 0 85 8 8.60215 RBCK1 0 genome.wustl.edu 37 20 400114 400114 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 400114 400114 T C SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known splice_site c.582+2 e5+2 0.999 - - - no_errors RBCK1 HGNC ENSG00000125826 22 0 0 30 2 6.25 CHD6 0 genome.wustl.edu 37 20 40049561 40049561 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 40049561 40049561 T C SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.5714 p.N1905S 0.000 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 116 0 0 124 11 8.14815 CHD6 0 genome.wustl.edu 37 20 40085990 40085990 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 40085990 40085990 G A SNP CHD6 ENST00000373233 human ensembl 74_37 -1 known missense c.2743 p.R915C 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C 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 66 0 0 44 16 26.6667 PTPRT 0 genome.wustl.edu 37 20 40713431 40713431 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 40713431 40713431 A T SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.4084 p.Y1362N 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 34 0 0 27 4 12.9032 PTPRT 0 genome.wustl.edu 37 20 40864873 40864873 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 40864873 40864873 A G SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.2395 p.Y799H 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,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 PTPRT HGNC ENSG00000196090 142 0 0 109 8 6.83761 L3MBTL1 0 genome.wustl.edu 37 20 42162001 42162001 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 42162001 42162001 T C SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.1390 p.Y464H 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 46 0 0 54 4 6.89655 IFT52 0 genome.wustl.edu 37 20 42232531 42232531 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 42232531 42232531 T C SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known splice_site c.337+2 e3+2 1.000 - - - no_errors IFT52 HGNC ENSG00000101052 64 0 0 36 3 7.69231 IFT52 0 genome.wustl.edu 37 20 42265849 42265849 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 42265849 42265849 C T SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known missense c.1076 p.T359M 0.953 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 167 0 0 125 9 6.71642 JPH2 0 genome.wustl.edu 37 20 42744457 42744457 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 42744457 42744457 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.1858 p.A620T 0.220 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 33 0 0 16 5 23.8095 YWHAB 0 genome.wustl.edu 37 20 43530375 43530375 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 43530375 43530375 T C SNP YWHAB ENST00000353703 human ensembl 74_37 +1 known silent c.201 p.I67 0.960 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 YWHAB HGNC ENSG00000166913 76 0 0 72 5 6.49351 TOMM34 0 genome.wustl.edu 37 20 43583713 43583713 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 43583713 43583713 T C SNP TOMM34 ENST00000372813 human ensembl 74_37 -1 known missense c.376 p.N126D 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 99 0 0 97 12 11.0092 WFDC5 0 genome.wustl.edu 37 20 43739138 43739138 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 43739138 43739138 G A SNP WFDC5 ENST00000307971 human ensembl 74_37 -1 known silent c.270 p.S90 0.993 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors WFDC5 HGNC ENSG00000175121 55 0 0 50 5 9.09091 SEMG2 0 genome.wustl.edu 37 20 43850767 43850767 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 43850767 43850767 G A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.494 p.R165K 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 68 0 0 52 3 5.45455 EPPIN-WFDC6 0 genome.wustl.edu 37 20 44166681 44166681 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44166681 44166681 A G SNP EPPIN-WFDC6 ENST00000504988 human ensembl 74_37 -1 known silent c.444 p.C148 0.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core pfam_Prot_inh_Kunz-m,pfam_WAP-type_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN-WFDC6 HGNC ENSG00000249139 175 0 0 138 17 10.9677 SNX21 0 genome.wustl.edu 37 20 44469372 44469372 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44469372 44469372 A C SNP SNX21 ENST00000491381 human ensembl 74_37 +1 known missense c.542 p.N181T 0.769 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 110 0 0 110 14 11.2903 ZSWIM3 0 genome.wustl.edu 37 20 44505771 44505771 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44505771 44505771 T C SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.574 p.F192L 0.621 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 104 0 0 92 10 9.80392 ZSWIM3 0 genome.wustl.edu 37 20 44506225 44506225 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44506225 44506225 C A SNP ZSWIM3 ENST00000255152 human ensembl 74_37 +1 known missense c.1028 p.S343Y 0.993 NULL pfam_Znf_SWIM,pfam_MULE_transposase_dom,pfam_Transposase,smart_Znf_PMZ,pfscan_Znf_SWIM - no_errors ZSWIM3 HGNC ENSG00000132801 104 0 0 90 7 7.21649 SPATA25 0 genome.wustl.edu 37 20 44515632 44515632 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44515632 44515632 C T SNP SPATA25 ENST00000372519 human ensembl 74_37 -1 known missense c.208 p.A70T 0.960 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 143 0 0 152 15 8.98204 PLTP 0 genome.wustl.edu 37 20 44538650 44538650 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44538650 44538650 T C SNP PLTP ENST00000542937 human ensembl 74_37 -1 known missense c.320 p.E107G 0.995 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 71 0 0 53 4 7.01754 ZNF335 0 genome.wustl.edu 37 20 44596981 44596981 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44596981 44596981 C T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.463 p.A155T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 94 0 0 100 12 10.7143 MMP9 0 genome.wustl.edu 37 20 44640886 44640886 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44640886 44640886 C T SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.1108 p.R370C 0.970 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 122 0 0 125 15 10.7143 NCOA5 0 genome.wustl.edu 37 20 44691317 44691317 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44691317 44691317 C T SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known silent c.1362 p.S454 0.936 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 171 0 0 149 15 9.14634 CDH22 0 genome.wustl.edu 37 20 44869870 44869870 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44869870 44869870 G A SNP CDH22 ENST00000372262 human ensembl 74_37 -1 known silent c.282 p.D94 0.930 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH22 HGNC ENSG00000149654 32 0 0 17 4 19.0476 SLC35C2 0 genome.wustl.edu 37 20 44983738 44983738 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44983738 44983738 T C SNP SLC35C2 ENST00000543605 human ensembl 74_37 -1 known missense c.638 p.Q213R 1.000 pfam_Tpt_PEP_trans_dom,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 94 0 0 80 18 18.3673 ELMO2 0 genome.wustl.edu 37 20 44996115 44996115 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44996115 44996115 G A SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known silent c.2083 p.L695 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 58 0 0 42 7 14.2857 ZNF334 0 genome.wustl.edu 37 20 45130828 45130828 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 45130828 45130828 T C SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known missense c.1150 p.K384E 0.994 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 ZNF334 HGNC ENSG00000198185 175 0 0 126 10 7.35294 SLC13A3 0 genome.wustl.edu 37 20 45239247 45239247 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 45239247 45239247 G T SNP SLC13A3 ENST00000279027 human ensembl 74_37 -1 known missense c.379 p.L127I 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A3 HGNC ENSG00000158296 69 0 0 75 4 5.06329 SLC2A10 0 genome.wustl.edu 37 20 45354435 45354435 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 45354435 45354435 G A SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known missense c.760 p.A254T 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 122 0 0 114 21 15.5556 NCOA3 0 genome.wustl.edu 37 20 46279854 46279854 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 46279854 46279854 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.3780 p.Q1260 0.884 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 64 0 0 44 11 20 NCOA3 0 genome.wustl.edu 37 20 46281156 46281156 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 46281156 46281156 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.3953 p.G1318E 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 88 0 0 62 9 12.6761 PRNP 0 genome.wustl.edu 37 20 4680403 4680403 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 4680403 4680403 C T SNP PRNP ENST00000379440 human ensembl 74_37 +1 known silent c.537 p.C179 0.997 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 69 0 0 60 8 11.7647 PRNP 0 genome.wustl.edu 37 20 4680596 4680596 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 4680596 4680596 A T SNP PRNP ENST00000379440 human ensembl 74_37 +1 known missense c.730 p.I244F 1.000 pfam_Prion/Doppel_prot_b-ribbon_dom,prints_Prion pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion - no_errors PRNP HGNC ENSG00000171867 16 0 0 13 3 18.75 PRND 0 genome.wustl.edu 37 20 4705292 4705292 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 4705292 4705292 G T SNP PRND ENST00000305817 human ensembl 74_37 +1 known missense c.95 p.R32I 0.960 NULL pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 65 0 0 64 6 8.57143 PREX1 0 genome.wustl.edu 37 20 47266665 47266665 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47266665 47266665 T C SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.2897 p.D966G 1.000 NULL 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 151 0 0 146 9 5.80645 CSNK2A1 0 genome.wustl.edu 37 20 472932 472932 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 472932 472932 T C SNP CSNK2A1 ENST00000217244 human ensembl 74_37 -1 known missense c.587 p.Y196C 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_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A1 HGNC ENSG00000101266 88 0 0 52 4 7.14286 ARFGEF2 0 genome.wustl.edu 37 20 47585715 47585715 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47585715 47585715 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.1091 p.A364V 0.819 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 64 0 0 44 9 16.9811 ARFGEF2 0 genome.wustl.edu 37 20 47601974 47601974 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47601974 47601974 C T SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known silent c.2100 p.S700 0.903 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 121 0 0 86 12 12.2449 ARFGEF2 0 genome.wustl.edu 37 20 47621755 47621755 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47621755 47621755 A G SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.3581 p.N1194S 1.000 pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 100 0 0 84 5 5.61798 ARFGEF2 0 genome.wustl.edu 37 20 47630429 47630429 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47630429 47630429 T C SNP ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known missense c.4111 p.W1371R 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 110 0 0 100 9 8.25688 DDX27 0 genome.wustl.edu 37 20 47852753 47852753 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47852753 47852753 T C SNP DDX27 ENST00000371764 human ensembl 74_37 +1 known silent c.1587 p.I529 0.976 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 128 0 0 120 7 5.51181 ZNFX1 0 genome.wustl.edu 37 20 47863988 47863988 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47863988 47863988 C T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.5573 p.G1858D 0.025 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 77 0 0 73 7 8.75 ZNFX1 0 genome.wustl.edu 37 20 47864700 47864700 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47864700 47864700 T C SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.4861 p.I1621V 0.993 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 72 0 0 73 4 5.19481 ZNFX1 0 genome.wustl.edu 37 20 47874037 47874037 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47874037 47874037 C T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.2581 p.A861T 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 129 0 0 77 7 8.33333 KCNB1 0 genome.wustl.edu 37 20 47990019 47990019 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47990019 47990019 T A SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known missense c.2078 p.D693V 0.994 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,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_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 38 0 0 50 7 12.2807 SLC9A8 0 genome.wustl.edu 37 20 48431651 48431651 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 48431651 48431651 G A SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.133 p.V45M 0.999 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 96 0 0 98 7 6.66667 FAM65C 0 genome.wustl.edu 37 20 49218812 49218812 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 49218812 49218812 C A SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known missense c.1456 p.G486C 0.889 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 27 0 0 23 9 28.125 FAM65C 0 genome.wustl.edu 37 20 49224977 49224977 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 49224977 49224977 A G SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known missense c.905 p.V302A 1.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 69 0 0 81 5 5.81395 FAM65C 0 genome.wustl.edu 37 20 49225053 49225053 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 49225053 49225053 G T SNP FAM65C ENST00000535356 human ensembl 74_37 -1 known missense c.829 p.L277M 1.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 107 0 0 115 10 8 DPM1 0 genome.wustl.edu 37 20 49575045 49575045 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 49575045 49575045 C G SNP DPM1 ENST00000371582 human ensembl 74_37 -1 known missense c.16 p.V6L 0.001 NULL pfam_Glyco_trans_2 - no_errors DPM1 HGNC ENSG00000000419 57 0 0 51 8 13.5593 NFATC2 0 genome.wustl.edu 37 20 50139780 50139780 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 50139780 50139780 C T SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.1000 p.A334T 0.009 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 74 0 0 58 7 10.7692 ATP9A 0 genome.wustl.edu 37 20 50235532 50235532 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 50235532 50235532 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known silent c.2166 p.K722 0.999 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 56 0 0 53 6 10.1695 ATP9A 0 genome.wustl.edu 37 20 50273593 50273593 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 50273593 50273593 C T SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.1390 p.A464T 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 59 0 0 43 4 8.51064 SALL4 0 genome.wustl.edu 37 20 50406794 50406794 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 50406794 50406794 A G SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2228 p.L743P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 36 0 0 43 4 8.51064 ZFP64 0 genome.wustl.edu 37 20 50715059 50715059 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 50715059 50715059 C A SNP ZFP64 ENST00000361387 human ensembl 74_37 -1 known missense c.831 p.K277N 0.095 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 84 0 0 74 6 7.5 ZNF217 0 genome.wustl.edu 37 20 52198090 52198090 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 52198090 52198090 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.1276 p.A426T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 57 0 0 70 15 17.6471 BCAS1 0 genome.wustl.edu 37 20 52573988 52573988 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 52573988 52573988 T C SNP BCAS1 ENST00000395961 human ensembl 74_37 -1 known missense c.1399 p.K467E 0.998 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 109 0 0 91 11 10.7843 CYP24A1 0 genome.wustl.edu 37 20 52779357 52779357 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 52779357 52779357 G A SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known missense c.889 p.P297S 0.118 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 80 0 0 66 5 7.04225 AURKA 0 genome.wustl.edu 37 20 54956577 54956577 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 54956577 54956577 A G SNP AURKA ENST00000312783 human ensembl 74_37 -1 known missense c.617 p.V206A 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 AURKA HGNC ENSG00000087586 97 0 0 66 5 7.04225 BMP7 0 genome.wustl.edu 37 20 55748227 55748227 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 55748227 55748227 A G SNP BMP7 ENST00000450594 human ensembl 74_37 -1 novel missense c.1175 p.V392A 0.000 smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 23 0 0 17 4 19.0476 C20orf85 0 genome.wustl.edu 37 20 56735739 56735739 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 56735739 56735739 C T SNP C20orf85 ENST00000371168 human ensembl 74_37 +1 known missense c.275 p.P92L 0.988 NULL NULL - no_errors C20orf85 HGNC ENSG00000124237 26 0 0 30 3 9.09091 STX16-NPEPL1 0 genome.wustl.edu 37 20 57244488 57244488 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 57244488 57244488 G A SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.535 p.A179T 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 33 0 0 39 4 9.30233 GNAS 0 genome.wustl.edu 37 20 57429108 57429108 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 57429108 57429108 C T SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.788 p.A263V 0.988 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 13 0 0 9 6 40 TUBB1 0 genome.wustl.edu 37 20 57599377 57599377 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 57599377 57599377 A G SNP TUBB1 ENST00000217133 human ensembl 74_37 +1 known missense c.895 p.T299A 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Gamma_tubulin,prints_Alpha_tubulin - no_errors TUBB1 HGNC ENSG00000101162 44 0 0 37 3 7.5 ZNF831 0 genome.wustl.edu 37 20 57766438 57766438 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 57766438 57766438 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.364 p.P122S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 23 0 0 33 4 10.8108 ZNF831 0 genome.wustl.edu 37 20 57766652 57766652 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 57766652 57766652 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.578 p.T193M 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 79 0 0 75 17 18.4783 ZNF831 0 genome.wustl.edu 37 20 57766659 57766659 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 57766659 57766659 G A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.585 p.T195 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 79 0 0 81 9 10 FAM217B 0 genome.wustl.edu 37 20 58519370 58519370 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 58519370 58519370 A G SNP FAM217B ENST00000358293 human ensembl 74_37 +1 known silent c.372 p.P124 0.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 87 0 0 75 5 6.25 MIR646 0 genome.wustl.edu 37 20 58883599 58883599 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 58883599 58883599 T C SNP MIR646 ENST00000385067 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR646 HGNC ENSG00000207802 72 0 0 55 6 9.83607 MCM8 0 genome.wustl.edu 37 20 5933145 5933145 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 5933145 5933145 A G SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.224 p.Y75C 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 166 0 0 114 7 5.78512 MCM8 0 genome.wustl.edu 37 20 5948575 5948575 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 5948575 5948575 G T SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.1127 p.G376V 0.017 smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 135 0 0 72 33 31.4286 C20orf166-AS1 0 genome.wustl.edu 37 20 61143670 61143670 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 61143670 61143670 G A SNP C20orf166-AS1 ENST00000412495 human ensembl 74_37 -1 known rna NULL NULL 0.140 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 61 0 0 69 16 18.8235 NTSR1 0 genome.wustl.edu 37 20 61391524 61391524 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 61391524 61391524 C T SNP NTSR1 ENST00000370501 human ensembl 74_37 +1 known missense c.1162 p.R388C 0.004 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NT1_rcpt,prints_GPCR_Rhodpsn,prints_NT_rcpt - no_errors NTSR1 HGNC ENSG00000101188 95 0 0 92 23 20 COL20A1 0 genome.wustl.edu 37 20 61941211 61941211 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 61941211 61941211 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.1207 p.H403Y 0.021 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 31 0 0 14 4 22.2222 CHRNA4 0 genome.wustl.edu 37 20 61981776 61981776 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 61981776 61981776 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known silent c.987 p.N329 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 72 0 0 67 6 8.21918 KCNQ2 0 genome.wustl.edu 37 20 62038197 62038197 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62038197 62038197 T C SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.2443 p.I815V 1.000 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 29 0 0 21 5 19.2308 EEF1A2 0 genome.wustl.edu 37 20 62121899 62121899 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62121899 62121899 C T SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.962 p.R321Q 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 89 0 0 61 20 24.6914 HELZ2 0 genome.wustl.edu 37 20 62192702 62192702 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62192702 62192702 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known splice_site c.6953+1 e13+1 0.996 - - - no_errors HELZ2 HGNC ENSG00000130589 93 0 0 93 10 9.70874 HELZ2 0 genome.wustl.edu 37 20 62196064 62196064 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62196064 62196064 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.4111 p.H1371Y 1.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 15 0 0 14 3 17.6471 GMEB2 0 genome.wustl.edu 37 20 62223416 62223416 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62223416 62223416 T A SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.911 p.Q304L 1.000 superfamily_Sig_transdc_His_kin_Hpt_dom pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 45 0 0 52 4 7.14286 RTEL1 0 genome.wustl.edu 37 20 62324280 62324280 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62324280 62324280 C A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known silent c.2775 p.S925 0.002 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 136 1 0.729927 125 15 10.7143 ZBTB46 0 genome.wustl.edu 37 20 62378537 62378537 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62378537 62378537 C T SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.1516 p.G506S 0.996 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 12 0 0 11 4 26.6667 ZBTB46 0 genome.wustl.edu 37 20 62407049 62407049 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62407049 62407049 C A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.1204 p.G402W 1.000 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 57 0 0 71 4 5.33333 UCKL1 0 genome.wustl.edu 37 20 62572016 62572016 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62572016 62572016 G A SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known silent c.1233 p.R411 0.969 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 19 0 0 15 3 16.6667 ZNF512B 0 genome.wustl.edu 37 20 62597536 62597536 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62597536 62597536 T A SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.992 p.N331I 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 57 0 0 67 5 6.94444 PRPF6 0 genome.wustl.edu 37 20 62626810 62626810 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62626810 62626810 C A SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.746 p.T249N 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 84 0 0 73 4 5.19481 PRPF6 0 genome.wustl.edu 37 20 62664252 62664252 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62664252 62664252 T C SNP PRPF6 ENST00000266079 human ensembl 74_37 +1 known missense c.2732 p.L911P 1.000 NULL pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 19 0 0 28 2 6.66667 RGS19 0 genome.wustl.edu 37 20 62705223 62705223 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62705223 62705223 A T SNP RGS19 ENST00000332298 human ensembl 74_37 -1 known missense c.637 p.S213T 0.145 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS19 HGNC ENSG00000171700 42 0 0 50 8 13.7931 NPBWR2 0 genome.wustl.edu 37 20 62737989 62737989 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62737989 62737989 C T SNP NPBWR2 ENST00000369768 human ensembl 74_37 -1 known missense c.196 p.V66I 0.964 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors NPBWR2 HGNC ENSG00000125522 31 0 0 21 7 25 PCMTD2 0 genome.wustl.edu 37 20 62896678 62896678 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 62896678 62896678 T C SNP PCMTD2 ENST00000308824 human ensembl 74_37 +1 known missense c.478 p.Y160H 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC ENSG00000203880 178 0 0 161 10 5.84795 HAO1 0 genome.wustl.edu 37 20 7866431 7866431 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 7866431 7866431 A G SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known silent c.894 p.T298 0.674 pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 154 0 0 126 7 5.26316 PLCB1 0 genome.wustl.edu 37 20 8703028 8703028 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 8703028 8703028 A G SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1541 p.D514G 0.997 pirsf_PLC-beta,superfamily_PLC-like_Pdiesterase_TIM-brl pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 81 0 0 61 6 8.95522 PAK7 0 genome.wustl.edu 37 20 9546626 9546626 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 9546626 9546626 C T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.1396 p.A466T 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_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK7 HGNC ENSG00000101349 163 0 0 132 10 7.04225 USP25 0 genome.wustl.edu 37 21 17172081 17172081 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 17172081 17172081 A T SNP USP25 ENST00000400183 human ensembl 74_37 +1 known missense c.561 p.L187F 0.997 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 79 0 0 52 4 7.14286 USP25 0 genome.wustl.edu 37 21 17203831 17203831 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 17203831 17203831 A T SNP USP25 ENST00000400183 human ensembl 74_37 +1 known missense c.1876 p.I626F 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 121 0 0 97 9 8.49057 TMPRSS15 0 genome.wustl.edu 37 21 19642347 19642347 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 19642347 19642347 C T SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known missense c.2999 p.R1000H 0.946 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 94 0 0 85 5 5.55556 NCAM2 0 genome.wustl.edu 37 21 22746311 22746311 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 22746311 22746311 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known silent c.1173 p.K391 0.999 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 87 0 0 51 8 13.5593 ATP5J 0 genome.wustl.edu 37 21 27102015 27102015 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 27102015 27102015 C T SNP ATP5J ENST00000457143 human ensembl 74_37 -1 known missense c.115 p.A39T 1.000 pfam_ATPase_F0-cplx_f6su_mt pfam_ATPase_F0-cplx_f6su_mt,superfamily_ATPase_F0-cplx_f6su_mt - no_errors ATP5J HGNC ENSG00000154723 53 0 0 38 11 22.449 CYYR1 0 genome.wustl.edu 37 21 27852713 27852713 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 27852713 27852713 A C SNP CYYR1 ENST00000299340 human ensembl 74_37 -1 known missense c.212 p.V71G 0.999 pfam_CYYR1 pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 114 0 0 95 13 12.037 CYYR1 0 genome.wustl.edu 37 21 27945320 27945320 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 27945320 27945320 G T SNP CYYR1 ENST00000435845 human ensembl 74_37 -1 known silent c.264 p.S88 0.003 NULL pfam_CYYR1 - no_errors CYYR1 HGNC ENSG00000166265 17 0 0 20 6 23.0769 ADAMTS1 0 genome.wustl.edu 37 21 28212379 28212379 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 28212379 28212379 G A SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.1667 p.T556M 0.996 superfamily_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 43 0 0 36 5 12.1951 ADAMTS5 0 genome.wustl.edu 37 21 28302342 28302342 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 28302342 28302342 G A SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.2088 p.S696 0.006 prints_Peptidase_M12B_ADAM-TS pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 208 0 0 140 35 20 RWDD2B 0 genome.wustl.edu 37 21 30380219 30380219 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 30380219 30380219 A T SNP RWDD2B ENST00000493196 human ensembl 74_37 -1 known missense c.588 p.H196Q 1.000 pfam_DUF1115,pirsf_UCP038021_RWD pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2B HGNC ENSG00000156253 120 0 0 98 13 11.7117 USP16 0 genome.wustl.edu 37 21 30409640 30409640 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 30409640 30409640 A G SNP USP16 ENST00000334352 human ensembl 74_37 +1 known silent c.492 p.L164 0.997 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 78 0 0 45 8 15.0943 GRIK1 0 genome.wustl.edu 37 21 30910122 30910122 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 30910122 30910122 C T SNP GRIK1 ENST00000327783 human ensembl 74_37 -1 novel silent c.2691 p.E897 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 257 0 0 146 14 8.75 KRTAP23-1 0 genome.wustl.edu 37 21 31720870 31720870 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 31720870 31720870 G T SNP KRTAP23-1 ENST00000334160 human ensembl 74_37 -1 known missense c.55 p.L19M 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP23-1 HGNC ENSG00000186980 92 0 0 67 7 9.45946 KRTAP13-4 0 genome.wustl.edu 37 21 31802768 31802768 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 31802768 31802768 A T SNP KRTAP13-4 ENST00000334068 human ensembl 74_37 +1 known missense c.175 p.A59S 0.001 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-4 HGNC ENSG00000186971 67 0 0 51 5 8.92857 PAXBP1 0 genome.wustl.edu 37 21 34117160 34117160 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34117160 34117160 T C SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known silent c.2133 p.T711 0.007 pfam_GCFC_dom pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 223 0 0 125 18 12.5874 IFNAR2 0 genome.wustl.edu 37 21 34617301 34617301 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34617301 34617301 T A SNP IFNAR2 ENST00000342136 human ensembl 74_37 +1 known missense c.143 p.F48Y 0.025 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC ENSG00000159110 127 0 0 110 7 5.98291 IFNAR2 0 genome.wustl.edu 37 21 34619165 34619165 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34619165 34619165 T C SNP IFNAR2 ENST00000342136 human ensembl 74_37 +1 known missense c.364 p.C122R 0.057 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IFNAR2 HGNC ENSG00000159110 43 0 0 34 5 12.8205 IL10RB 0 genome.wustl.edu 37 21 34660535 34660535 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34660535 34660535 C T SNP IL10RB ENST00000290200 human ensembl 74_37 +1 known missense c.773 p.P258L 0.031 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL10RB HGNC ENSG00000243646 92 0 0 68 23 25.2747 TMEM50B 0 genome.wustl.edu 37 21 34837700 34837700 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34837700 34837700 T C SNP TMEM50B ENST00000420455 human ensembl 74_37 -1 known missense c.229 p.N77D 1.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50B HGNC ENSG00000142188 95 0 0 75 7 8.53659 GART 0 genome.wustl.edu 37 21 34897169 34897169 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34897169 34897169 T G SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.1205 p.E402A 0.435 pfam_PRibGlycinamide_synth_C-dom,superfamily_Rudment_hybrid_motif,tigrfam_PRibGlycinamide_synth pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 142 0 0 137 12 8.05369 SON 0 genome.wustl.edu 37 21 34923142 34923142 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34923142 34923142 G A SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.1605 p.G535 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 126 0 0 107 34 24.1135 SON 0 genome.wustl.edu 37 21 34932282 34932282 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 34932282 34932282 C T SNP SON ENST00000300278 human ensembl 74_37 +1 known missense c.6757 p.P2253S 1.000 NULL superfamily_WD40_repeat_dom - no_errors SON HGNC ENSG00000159140 52 0 0 52 4 7.14286 ITSN1 0 genome.wustl.edu 37 21 35247781 35247781 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 35247781 35247781 C A SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.4297 p.L1433M 1.000 superfamily_DH-domain pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 78 0 0 71 4 5.33333 SLC5A3 0 genome.wustl.edu 37 21 35468693 35468693 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 35468693 35468693 G A SNP SLC5A3 ENST00000381151 human ensembl 74_37 +1 known missense c.1196 p.R399H 1.000 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 SLC5A3 HGNC ENSG00000198743 86 0 0 92 6 6.12245 RUNX1 0 genome.wustl.edu 37 21 36206799 36206799 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 36206799 36206799 A G SNP RUNX1 ENST00000300305 human ensembl 74_37 -1 known missense c.713 p.V238A 1.000 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX1 HGNC ENSG00000159216 132 0 0 121 13 9.70149 MIR802 0 genome.wustl.edu 37 21 37093039 37093039 + RNA SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 37093039 37093039 A T SNP MIR802 ENST00000390235 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR802 HGNC ENSG00000211590 101 0 0 77 7 8.33333 SETD4 0 genome.wustl.edu 37 21 37408417 37408417 + Nonstop_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 37408417 37408417 A G SNP SETD4 ENST00000332131 human ensembl 74_37 -1 known nonstop c.1321 p.*441R 0.071 NULL pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd - no_errors SETD4 HGNC ENSG00000185917 209 0 0 128 35 21.4724 CBR3 0 genome.wustl.edu 37 21 37507593 37507593 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 37507593 37507593 C T SNP CBR3 ENST00000290354 human ensembl 74_37 +1 known missense c.103 p.L35F 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC ENSG00000159231 31 0 0 30 4 11.7647 CHAF1B 0 genome.wustl.edu 37 21 37781130 37781130 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 37781130 37781130 T C SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known splice_site c.827+2 e8+2 1.000 - - - no_errors CHAF1B HGNC ENSG00000159259 74 0 0 34 10 22.7273 HLCS 0 genome.wustl.edu 37 21 38309119 38309119 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 38309119 38309119 G A SNP HLCS ENST00000336648 human ensembl 74_37 -1 known missense c.626 p.P209L 1.000 NULL pfam_BPL_LipA_LipB,pfam_BPL_C,tigrfam_Biotin_CoA_COase_ligase - no_errors HLCS HGNC ENSG00000159267 69 0 0 63 4 5.97015 TTC3 0 genome.wustl.edu 37 21 38538826 38538826 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 38538826 38538826 A G SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.4310 p.H1437R 0.002 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 96 0 0 63 10 13.6986 DSCR9 0 genome.wustl.edu 37 21 38593691 38593691 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 38593691 38593691 G A SNP DSCR9 ENST00000454482 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DSCR9 HGNC ENSG00000230366 65 0 0 49 5 9.25926 DSCR3 0 genome.wustl.edu 37 21 38604795 38604795 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 38604795 38604795 G A SNP DSCR3 ENST00000399000 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DSCR3 HGNC ENSG00000157538 63 0 0 53 8 13.1148 KCNJ15 0 genome.wustl.edu 37 21 39671242 39671242 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 39671242 39671242 C T SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.59 p.A20V 0.000 pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 60 0 0 36 17 32.0755 KCNJ15 0 genome.wustl.edu 37 21 39671343 39671343 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 39671343 39671343 C A SNP KCNJ15 ENST00000328656 human ensembl 74_37 +1 known missense c.160 p.L54M 0.895 pfam_K_chnl_inward-rec_Kir,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_Kir1.3,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ15 HGNC ENSG00000157551 112 0 0 81 12 12.9032 FLJ45139 0 genome.wustl.edu 37 21 40250774 40250774 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 40250774 40250774 C A SNP FLJ45139 ENST00000380931 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors AF064858.6 Clone_based_vega_gene ENSG00000205622 170 0 0 112 14 11.1111 BRWD1 0 genome.wustl.edu 37 21 40670420 40670420 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 40670420 40670420 C G SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.287 p.S96T 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 223 0 0 175 26 12.9353 IGSF5 0 genome.wustl.edu 37 21 41137591 41137591 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 41137591 41137591 T C SNP IGSF5 ENST00000380588 human ensembl 74_37 +1 novel missense c.230 p.V77A 0.072 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors IGSF5 HGNC ENSG00000183067 46 0 0 37 3 7.5 DSCAM 0 genome.wustl.edu 37 21 41423886 41423886 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 41423886 41423886 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.5184 p.T1728 0.885 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 168 0 0 119 38 24.2038 DSCAM 0 genome.wustl.edu 37 21 41452117 41452117 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 41452117 41452117 C T SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.4382 p.R1461H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 166 0 0 118 8 6.34921 DSCAM 0 genome.wustl.edu 37 21 41465654 41465654 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 41465654 41465654 C A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.3844 p.A1282S 0.997 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 46 0 0 56 3 5.08475 DSCAM 0 genome.wustl.edu 37 21 41648131 41648131 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 41648131 41648131 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2249 p.S750L 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 82 0 0 56 15 21.1268 MX1 0 genome.wustl.edu 37 21 42804080 42804080 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 42804080 42804080 T C SNP MX1 ENST00000398598 human ensembl 74_37 +1 known missense c.83 p.V28A 0.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX1 HGNC ENSG00000157601 110 0 0 96 6 5.88235 ZBTB21 0 genome.wustl.edu 37 21 43412166 43412166 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 43412166 43412166 C T SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.2039 p.R680H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 184 0 0 144 18 11.1111 ZBTB21 0 genome.wustl.edu 37 21 43413493 43413493 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 43413493 43413493 T C SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.712 p.N238D 0.011 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 68 0 0 57 6 9.52381 UMODL1 0 genome.wustl.edu 37 21 43496156 43496156 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 43496156 43496156 G A SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.119 p.R40H 0.002 pfam_EMI_domain,pfscan_EMI_domain pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 120 0 0 123 12 8.88889 ABCG1 0 genome.wustl.edu 37 21 43704740 43704740 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 43704740 43704740 A G SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1243 p.I415V 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 76 0 0 73 7 8.75 SLC37A1 0 genome.wustl.edu 37 21 43979141 43979141 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 43979141 43979141 C A SNP SLC37A1 ENST00000352133 human ensembl 74_37 +1 known missense c.923 p.P308H 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 38 0 0 44 7 13.7255 WDR4 0 genome.wustl.edu 37 21 44270183 44270183 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 44270183 44270183 C T SNP WDR4 ENST00000330317 human ensembl 74_37 -1 known silent c.1215 p.P405 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 167 0 0 155 40 20.5128 WDR4 0 genome.wustl.edu 37 21 44273682 44273682 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 44273682 44273682 C T SNP WDR4 ENST00000330317 human ensembl 74_37 -1 known nonsense c.972 p.W324* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR4 HGNC ENSG00000160193 31 0 0 29 3 9.375 CBS 0 genome.wustl.edu 37 21 44482463 44482463 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 44482463 44482463 T C SNP CBS ENST00000398168 human ensembl 74_37 -1 known missense c.997 p.T333A 0.876 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 21 0 0 16 3 15.7895 U2AF1 0 genome.wustl.edu 37 21 44515553 44515553 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 44515553 44515553 C T SNP U2AF1 ENST00000291552 human ensembl 74_37 -1 known missense c.343 p.V115I 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC ENSG00000160201 94 0 0 88 23 20.7207 TRAPPC10 0 genome.wustl.edu 37 21 45502855 45502855 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 45502855 45502855 G A SNP TRAPPC10 ENST00000291574 human ensembl 74_37 +1 known missense c.1910 p.S637N 0.981 NULL NULL - no_errors TRAPPC10 HGNC ENSG00000160218 159 0 0 131 36 21.5569 DNMT3L 0 genome.wustl.edu 37 21 45668961 45668961 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 45668961 45668961 C T SNP DNMT3L ENST00000270172 human ensembl 74_37 -1 known missense c.943 p.G315R 0.000 NULL superfamily_Znf_FYVE_PHD - no_errors DNMT3L HGNC ENSG00000142182 35 0 0 26 10 27.7778 TSPEAR 0 genome.wustl.edu 37 21 45941774 45941774 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 45941774 45941774 A T SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known missense c.1558 p.S520T 1.000 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 51 0 0 45 5 10 KRTAP10-1 0 genome.wustl.edu 37 21 45959687 45959687 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 45959687 45959687 T G SNP KRTAP10-1 ENST00000400375 human ensembl 74_37 -1 known missense c.347 p.K116T 0.001 NULL NULL - no_errors KRTAP10-1 HGNC ENSG00000215455 81 0 0 79 7 8.13953 KRTAP10-3 0 genome.wustl.edu 37 21 45978503 45978503 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 45978503 45978503 A T SNP KRTAP10-3 ENST00000391620 human ensembl 74_37 -1 known nonsense c.96 p.C32* 0.001 NULL NULL - no_errors KRTAP10-3 HGNC ENSG00000212935 47 0 0 36 7 16.2791 PTTG1IP 0 genome.wustl.edu 37 21 46276138 46276138 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 46276138 46276138 C T SNP PTTG1IP ENST00000330938 human ensembl 74_37 -1 known missense c.419 p.R140Q 0.936 NULL smart_Plexin-like_fold - no_errors PTTG1IP HGNC ENSG00000183255 96 0 0 67 19 22.093 COL18A1 0 genome.wustl.edu 37 21 46888239 46888239 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 46888239 46888239 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.1435 p.V479I 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 78 0 0 46 27 36.9863 COL18A1 0 genome.wustl.edu 37 21 46925753 46925753 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 46925753 46925753 T G SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4334 p.V1445G 0.984 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 31 0 0 30 3 9.09091 PCBP3 0 genome.wustl.edu 37 21 47360012 47360012 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47360012 47360012 G A SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known silent c.978 p.Q326 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 76 0 0 80 6 6.97674 PCBP3 0 genome.wustl.edu 37 21 47360061 47360061 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47360061 47360061 A G SNP PCBP3 ENST00000400314 human ensembl 74_37 +1 known missense c.1027 p.I343V 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP3 HGNC ENSG00000183570 55 0 0 53 7 11.6667 COL6A1 0 genome.wustl.edu 37 21 47423435 47423435 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47423435 47423435 G A SNP COL6A1 ENST00000361866 human ensembl 74_37 +1 known silent c.2595 p.T865 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 39 0 0 35 6 14.6341 COL6A2 0 genome.wustl.edu 37 21 47545929 47545929 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47545929 47545929 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2200 p.R734C 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 75 0 0 54 17 23.9437 LSS 0 genome.wustl.edu 37 21 47611134 47611134 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47611134 47611134 C T SNP LSS ENST00000356396 human ensembl 74_37 -1 known missense c.2083 p.V695I 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 97 0 0 73 22 23.1579 LSS 0 genome.wustl.edu 37 21 47625811 47625811 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47625811 47625811 C T SNP LSS ENST00000356396 human ensembl 74_37 -1 known missense c.1609 p.V537M 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 28 0 0 21 7 25 DIP2A 0 genome.wustl.edu 37 21 47975893 47975893 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47975893 47975893 A G SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known splice_site c.3392-2 e29-2 1.000 - - - no_errors DIP2A HGNC ENSG00000160305 103 0 0 94 10 9.61538 GAB4 0 genome.wustl.edu 37 22 17449187 17449187 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 17449187 17449187 C T SNP GAB4 ENST00000400588 human ensembl 74_37 -1 known splice_site c.1023+1 e5+1 1.000 - - - no_errors GAB4 HGNC ENSG00000215568 50 0 0 28 12 30 IL17RA 0 genome.wustl.edu 37 22 17589268 17589268 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 17589268 17589268 G A SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known missense c.1159 p.D387N 1.000 pfam_SEFIR pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 41 0 0 31 14 31.1111 IL17RA 0 genome.wustl.edu 37 22 17589757 17589757 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 17589757 17589757 G A SNP IL17RA ENST00000319363 human ensembl 74_37 +1 known missense c.1648 p.V550I 0.133 NULL pfam_SEFIR - no_errors IL17RA HGNC ENSG00000177663 19 0 0 20 2 9.09091 CECR5 0 genome.wustl.edu 37 22 17621952 17621952 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 17621952 17621952 G A SNP CECR5 ENST00000336737 human ensembl 74_37 -1 known missense c.743 p.P248L 1.000 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA - no_errors CECR5 HGNC ENSG00000069998 44 0 0 61 4 6.15385 BCL2L13 0 genome.wustl.edu 37 22 18171803 18171803 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 18171803 18171803 C T SNP BCL2L13 ENST00000317582 human ensembl 74_37 +1 known missense c.281 p.A94V 0.994 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC ENSG00000099968 113 0 0 86 8 8.51064 BCL2L13 0 genome.wustl.edu 37 22 18209815 18209815 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 18209815 18209815 G A SNP BCL2L13 ENST00000317582 human ensembl 74_37 +1 known missense c.973 p.A325T 0.002 NULL pfam_Blc2_fam,pfscan_Bcl2-like - no_errors BCL2L13 HGNC ENSG00000099968 65 0 0 54 8 12.9032 MICAL3 0 genome.wustl.edu 37 22 18304816 18304816 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 18304816 18304816 G A SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known missense c.3428 p.S1143L 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 145 0 0 117 7 5.64516 ENSG00000161103 0 genome.wustl.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 18844766 18844766 G A SNP ENSG00000161103 ENST00000412938 human ensembl 74_37 +1 known rna NULL NULL 0.223 - - - no_errors AC008132.13 Clone_based_vega_gene ENSG00000161103 14 0 0 12 5 29.4118 DGCR2 0 genome.wustl.edu 37 22 19076920 19076920 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 19076920 19076920 C T SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known missense c.163 p.A55T 0.176 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 62 0 0 69 4 5.47945 HIRA 0 genome.wustl.edu 37 22 19341549 19341549 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 19341549 19341549 G A SNP HIRA ENST00000263208 human ensembl 74_37 -1 known missense c.2654 p.P885L 1.000 pfam_Hira pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 27 0 0 24 6 20 TBX1 0 genome.wustl.edu 37 22 19752591 19752591 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 19752591 19752591 C T SNP TBX1 ENST00000329705 human ensembl 74_37 +1 known silent c.795 p.F265 0.829 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX1 HGNC ENSG00000184058 93 0 0 84 11 11.5789 TXNRD2 0 genome.wustl.edu 37 22 19898959 19898959 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 19898959 19898959 G T SNP TXNRD2 ENST00000535882 human ensembl 74_37 -1 known silent c.600 p.A200 0.025 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD2 HGNC ENSG00000184470 47 0 0 50 4 7.40741 ARVCF 0 genome.wustl.edu 37 22 19960547 19960547 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 19960547 19960547 G A SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known silent c.2451 p.R817 0.082 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 70 0 0 47 26 35.6164 ZNF74 0 genome.wustl.edu 37 22 20760242 20760242 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 20760242 20760242 G A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.919 p.G307S 0.573 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 ZNF74 HGNC ENSG00000185252 47 0 0 32 15 31.9149 KLHL22 0 genome.wustl.edu 37 22 20800921 20800921 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 20800921 20800921 T C SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.1348 p.I450V 0.217 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 120 0 0 96 9 8.57143 KLHL22 0 genome.wustl.edu 37 22 20800941 20800941 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 20800941 20800941 G A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.1328 p.T443M 0.514 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 99 0 0 70 20 22.2222 PI4KA 0 genome.wustl.edu 37 22 21156280 21156280 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 21156280 21156280 C T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.1705 p.A569T 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 72 0 0 64 16 20 CRKL 0 genome.wustl.edu 37 22 21288079 21288079 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 21288079 21288079 A T SNP CRKL ENST00000354336 human ensembl 74_37 +1 known silent c.324 p.P108 0.996 superfamily_SH3_domain pfam_SH3_2,pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH2,smart_SH3_domain,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors CRKL HGNC ENSG00000099942 133 0 0 116 9 7.2 HIC2 0 genome.wustl.edu 37 22 21800343 21800343 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 21800343 21800343 C G SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1159 p.P387A 0.277 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 18 0 0 18 3 14.2857 CCDC116 0 genome.wustl.edu 37 22 21991211 21991211 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 21991211 21991211 T C SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known missense c.1694 p.M565T 0.000 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 87 0 0 87 7 7.44681 GNAZ 0 genome.wustl.edu 37 22 23438549 23438549 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 23438549 23438549 A G SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.667 p.I223V 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 230 0 0 224 16 6.66667 GNAZ 0 genome.wustl.edu 37 22 23465488 23465488 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 23465488 23465488 G A SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.938 p.R313H 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 42 0 0 36 9 20 SMARCB1 0 genome.wustl.edu 37 22 24143232 24143232 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 24143232 24143232 G A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.464 p.R155H 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 63 0 0 61 8 11.5942 CABIN1 0 genome.wustl.edu 37 22 24459471 24459471 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 24459471 24459471 T C SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.1746 p.P582 0.039 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 170 0 0 166 12 6.74157 SUSD2 0 genome.wustl.edu 37 22 24580778 24580778 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 24580778 24580778 T C SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.652 p.Y218H 0.734 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 26 0 0 43 4 8.51064 SUSD2 0 genome.wustl.edu 37 22 24580867 24580867 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 24580867 24580867 T C SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known silent c.741 p.G247 0.258 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 53 0 0 69 4 5.47945 POM121L9P 0 genome.wustl.edu 37 22 24658515 24658515 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 24658515 24658515 C T SNP POM121L9P ENST00000414583 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors POM121L9P HGNC ENSG00000128262 50 0 0 35 6 14.6341 SPECC1L 0 genome.wustl.edu 37 22 24717913 24717913 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 24717913 24717913 T C SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.965 p.V322A 0.999 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 106 0 0 95 12 11.215 ADRBK2 0 genome.wustl.edu 37 22 26070497 26070497 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 26070497 26070497 T C SNP ADRBK2 ENST00000324198 human ensembl 74_37 +1 known splice_site c.647+2 e8+2 1.000 - - - no_errors ADRBK2 HGNC ENSG00000100077 70 0 0 41 3 6.81818 MYO18B 0 genome.wustl.edu 37 22 26219495 26219495 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 26219495 26219495 T A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.2545 p.F849I 0.996 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 63 0 0 78 6 7.14286 SEZ6L 0 genome.wustl.edu 37 22 26707780 26707780 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 26707780 26707780 C A SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known missense c.1728 p.N576K 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 237 2 0.83682 263 21 7.39437 HPS4 0 genome.wustl.edu 37 22 26860374 26860374 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 26860374 26860374 C T SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.1261 p.A421T 0.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 77 0 0 67 14 17.284 TPST2 0 genome.wustl.edu 37 22 26937449 26937449 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 26937449 26937449 C T SNP TPST2 ENST00000338754 human ensembl 74_37 -1 known missense c.148 p.E50K 1.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 31 0 0 22 2 8.33333 PITPNB 0 genome.wustl.edu 37 22 28256181 28256181 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 28256181 28256181 G T SNP PITPNB ENST00000455418 human ensembl 74_37 -1 known missense c.589 p.L197M 1.000 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNB HGNC ENSG00000180957 101 0 0 90 8 8.16327 PITPNB 0 genome.wustl.edu 37 22 28293787 28293787 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 28293787 28293787 A G SNP PITPNB ENST00000455418 human ensembl 74_37 -1 known splice_site c.295+2 e4+2 1.000 - - - no_errors PITPNB HGNC ENSG00000180957 117 1 0.847458 98 11 10.0917 HSCB 0 genome.wustl.edu 37 22 29141962 29141962 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 29141962 29141962 A G SNP HSCB ENST00000216027 human ensembl 74_37 +1 known silent c.534 p.E178 0.957 pfam_HscB_oligo_C,superfamily_HscB_oligo_C,tigrfam_HscB pfam_HscB_oligo_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HscB_oligo_C,tigrfam_HscB - no_errors HSCB HGNC ENSG00000100209 55 0 0 47 4 7.84314 XBP1 0 genome.wustl.edu 37 22 29193152 29193152 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 29193152 29193152 T C SNP XBP1 ENST00000344347 human ensembl 74_37 -1 known silent c.366 p.K122 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors XBP1 HGNC ENSG00000100219 89 0 0 51 4 7.27273 KREMEN1 0 genome.wustl.edu 37 22 29534823 29534823 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 29534823 29534823 T C SNP KREMEN1 ENST00000327813 human ensembl 74_37 +1 known splice_site c.1174+2 e7+2 0.980 - - - no_errors KREMEN1 HGNC ENSG00000183762 38 0 0 35 12 25.5319 EWSR1 0 genome.wustl.edu 37 22 29683072 29683072 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 29683072 29683072 A G SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.760 p.S254G 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 55 0 0 35 7 16.6667 AP1B1 0 genome.wustl.edu 37 22 29735105 29735105 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 29735105 29735105 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known silent c.2037 p.F679 0.047 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 71 0 0 86 7 7.52688 AP1B1 0 genome.wustl.edu 37 22 29736837 29736837 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 29736837 29736837 G A SNP AP1B1 ENST00000357586 human ensembl 74_37 -1 known silent c.1806 p.S602 0.982 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 20 0 0 11 2 15.3846 NF2 0 genome.wustl.edu 37 22 30038225 30038225 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 30038225 30038225 G A SNP NF2 ENST00000338641 human ensembl 74_37 +1 known missense c.398 p.C133Y 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin - no_errors NF2 HGNC ENSG00000186575 102 0 0 81 10 10.989 ASCC2 0 genome.wustl.edu 37 22 30185132 30185132 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 30185132 30185132 C T SNP ASCC2 ENST00000307790 human ensembl 74_37 -1 known missense c.2144 p.R715Q 1.000 NULL pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE - no_errors ASCC2 HGNC ENSG00000100325 255 0 0 285 21 6.86275 TBC1D10A 0 genome.wustl.edu 37 22 30691001 30691001 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 30691001 30691001 G A SNP TBC1D10A ENST00000215790 human ensembl 74_37 -1 known missense c.568 p.R190W 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10A HGNC ENSG00000099992 81 0 0 61 14 18.6667 SF3A1 0 genome.wustl.edu 37 22 30730630 30730630 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 30730630 30730630 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.2335 p.A779T 0.909 pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 148 0 0 121 43 26.2195 SF3A1 0 genome.wustl.edu 37 22 30738209 30738209 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 30738209 30738209 T C SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.857 p.D286G 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 100 1 0.990099 95 9 8.65385 PES1 0 genome.wustl.edu 37 22 30980655 30980655 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 30980655 30980655 T C SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.418 p.M140V 1.000 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 27 0 0 23 2 8 OSBP2 0 genome.wustl.edu 37 22 31091460 31091460 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 31091460 31091460 G A SNP OSBP2 ENST00000332585 human ensembl 74_37 +1 known nonsense c.564 p.W188* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 91 0 0 104 12 10.3448 MORC2 0 genome.wustl.edu 37 22 31328629 31328629 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 31328629 31328629 C T SNP MORC2 ENST00000397641 human ensembl 74_37 -1 known missense c.2650 p.A884T 0.001 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 44 0 0 50 4 7.40741 LIMK2 0 genome.wustl.edu 37 22 31673000 31673000 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 31673000 31673000 C T SNP LIMK2 ENST00000340552 human ensembl 74_37 +1 putative silent c.1935 p.D645 0.995 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 61 0 0 58 9 13.4328 EIF4ENIF1 0 genome.wustl.edu 37 22 31859800 31859800 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 31859800 31859800 C T SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.452 p.G151D 0.997 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 94 0 0 106 6 5.35714 DEPDC5 0 genome.wustl.edu 37 22 32241191 32241191 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 32241191 32241191 C T SNP DEPDC5 ENST00000266091 human ensembl 74_37 +1 known missense c.2989 p.R997C 1.000 NULL pfam_IML1,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC ENSG00000100150 33 0 0 27 2 6.89655 YWHAH 0 genome.wustl.edu 37 22 32352260 32352260 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 32352260 32352260 A G SNP YWHAH ENST00000248975 human ensembl 74_37 +1 known silent c.222 p.G74 0.293 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 YWHAH HGNC ENSG00000128245 85 0 0 82 6 6.81818 LARGE 0 genome.wustl.edu 37 22 33733731 33733731 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 33733731 33733731 A G SNP LARGE ENST00000354992 human ensembl 74_37 -1 known silent c.1188 p.F396 0.987 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 51 0 0 49 5 9.25926 LARGE 0 genome.wustl.edu 37 22 34000453 34000453 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 34000453 34000453 G A SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.583 p.R195C 0.999 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 69 0 0 71 4 5.33333 MCM5 0 genome.wustl.edu 37 22 35804510 35804510 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 35804510 35804510 G A SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.706 p.V236I 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 47 0 0 45 6 11.7647 RASD2 0 genome.wustl.edu 37 22 35947862 35947862 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 35947862 35947862 A G SNP RASD2 ENST00000216127 human ensembl 74_37 +1 known missense c.584 p.E195G 1.000 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RASD2 HGNC ENSG00000100302 33 0 0 41 3 6.81818 APOL6 0 genome.wustl.edu 37 22 36054697 36054697 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36054697 36054697 A T SNP APOL6 ENST00000409652 human ensembl 74_37 +1 known missense c.86 p.E29V 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 72 0 0 68 6 8.10811 APOL6 0 genome.wustl.edu 37 22 36055239 36055239 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36055239 36055239 G A SNP APOL6 ENST00000409652 human ensembl 74_37 +1 known missense c.628 p.V210I 0.000 pfam_ApoL pfam_ApoL - no_errors APOL6 HGNC ENSG00000221963 88 0 0 82 16 16.3265 RBFOX2 0 genome.wustl.edu 37 22 36140273 36140273 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36140273 36140273 G A SNP RBFOX2 ENST00000414461 human ensembl 74_37 -1 known missense c.1082 p.T361I 1.000 pirsf_RNA-bd_Fox-1 pfam_RRM_dom,pfam_Fox-1_C_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX2 HGNC ENSG00000100320 43 0 0 38 6 13.6364 APOL3 0 genome.wustl.edu 37 22 36537732 36537732 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36537732 36537732 T C SNP APOL3 ENST00000349314 human ensembl 74_37 -1 known missense c.725 p.H242R 0.000 pfam_ApoL pfam_ApoL - no_errors APOL3 HGNC ENSG00000128284 26 0 0 37 2 5.12821 APOL2 0 genome.wustl.edu 37 22 36624003 36624003 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36624003 36624003 C T SNP APOL2 ENST00000249066 human ensembl 74_37 -1 known missense c.461 p.G154D 0.002 pfam_ApoL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 54 0 0 50 9 15.2542 MYH9 0 genome.wustl.edu 37 22 36684948 36684948 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36684948 36684948 T C SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.4595 p.Q1532R 1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 62 0 0 63 8 11.2676 MYH9 0 genome.wustl.edu 37 22 36692912 36692912 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36692912 36692912 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known silent c.3249 p.E1083 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 32 0 0 35 4 10.2564 FOXRED2 0 genome.wustl.edu 37 22 36902087 36902087 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 36902087 36902087 T C SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.383 p.Y128C 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 67 0 0 57 8 12.3077 SSTR3 0 genome.wustl.edu 37 22 37603822 37603822 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 37603822 37603822 T C SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known silent c.21 p.S7 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 48 0 0 34 5 12.8205 CYTH4 0 genome.wustl.edu 37 22 37695345 37695345 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 37695345 37695345 C T SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known silent c.432 p.L144 0.956 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH4 HGNC ENSG00000100055 56 0 0 49 6 10.9091 CYTH4 0 genome.wustl.edu 37 22 37707044 37707044 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 37707044 37707044 C T SNP CYTH4 ENST00000248901 human ensembl 74_37 +1 known missense c.824 p.T275M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH4 HGNC ENSG00000100055 93 0 0 93 15 13.8889 ELFN2 0 genome.wustl.edu 37 22 37770240 37770240 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 37770240 37770240 A G SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known silent c.1335 p.A445 0.105 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 123 0 0 116 30 20.5479 ELFN2 0 genome.wustl.edu 37 22 37771126 37771126 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 37771126 37771126 C T SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.449 p.C150Y 1.000 smart_Leu-rich_rpt_typical-subtyp superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 94 0 0 65 18 21.6867 SH3BP1 0 genome.wustl.edu 37 22 38046210 38046210 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 38046210 38046210 C T SNP SH3BP1 ENST00000442465 human ensembl 74_37 +1 known missense c.1466 p.A489V 0.197 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 30 0 0 21 5 19.2308 TRIOBP 0 genome.wustl.edu 37 22 38165151 38165151 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 38165151 38165151 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known missense c.6692 p.R2231H 0.587 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 18 0 0 18 5 21.7391 BAIAP2L2 0 genome.wustl.edu 37 22 38484913 38484913 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 38484913 38484913 C T SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known silent c.960 p.P320 0.260 superfamily_SH3_domain pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 12 0 0 6 3 33.3333 BAIAP2L2 0 genome.wustl.edu 37 22 38493074 38493074 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 38493074 38493074 G A SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known silent c.577 p.L193 1.000 pfam_IRSp53/MIM_homology_IMD pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 28 0 0 33 3 8.33333 PLA2G6 0 genome.wustl.edu 37 22 38524328 38524328 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 38524328 38524328 A T SNP PLA2G6 ENST00000332509 human ensembl 74_37 -1 known missense c.1296 p.H432Q 0.000 NULL pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PLA2G6 HGNC ENSG00000184381 74 0 0 57 7 10.9375 CSNK1E 0 genome.wustl.edu 37 22 38689315 38689315 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 38689315 38689315 G A SNP CSNK1E ENST00000359867 human ensembl 74_37 -1 known missense c.1229 p.P410L 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 CSNK1E HGNC ENSG00000213923 148 0 0 147 8 5.16129 KCNJ4 0 genome.wustl.edu 37 22 38824086 38824086 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 38824086 38824086 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known missense c.52 p.R18C 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_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 287 1 0.347222 273 24 8.08081 APOBEC3B 0 genome.wustl.edu 37 22 39382383 39382383 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 39382383 39382383 G A SNP APOBEC3B ENST00000333467 human ensembl 74_37 +1 known missense c.535 p.A179T 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3B HGNC ENSG00000179750 169 1 0.588235 123 45 26.7857 APOBEC3G 0 genome.wustl.edu 37 22 39482481 39482481 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 39482481 39482481 T C SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known silent c.933 p.T311 0.820 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 209 0 0 168 12 6.66667 MIEF1 0 genome.wustl.edu 37 22 39907986 39907986 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 39907986 39907986 C T SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.277 p.R93W 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 97 0 0 94 22 18.9655 MIEF1 0 genome.wustl.edu 37 22 39910325 39910325 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 39910325 39910325 G A SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known silent c.1389 p.T463 0.991 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 80 0 0 68 20 22.7273 CACNA1I 0 genome.wustl.edu 37 22 40055777 40055777 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 40055777 40055777 T C SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.2542 p.F848L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 107 0 0 110 8 6.77966 CACNA1I 0 genome.wustl.edu 37 22 40061520 40061520 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 40061520 40061520 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.3887 p.P1296L 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 41 0 0 41 9 18 ADSL 0 genome.wustl.edu 37 22 40746002 40746002 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 40746002 40746002 A G SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.320 p.H107R 1.000 superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 125 0 0 83 7 7.77778 MCHR1 0 genome.wustl.edu 37 22 41077411 41077411 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 41077411 41077411 T C SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known missense c.748 p.Y250H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 58 0 0 72 7 8.86076 ST13 0 genome.wustl.edu 37 22 41226881 41226881 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 41226881 41226881 A T SNP ST13 ENST00000216218 human ensembl 74_37 -1 known missense c.761 p.V254D 1.000 NULL pfam_TPR_1,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ST13 HGNC ENSG00000100380 115 0 0 81 6 6.89655 RANGAP1 0 genome.wustl.edu 37 22 41645453 41645453 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 41645453 41645453 A G SNP RANGAP1 ENST00000356244 human ensembl 74_37 -1 known silent c.1575 p.S525 0.998 pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RANGAP1 HGNC ENSG00000100401 32 0 0 30 6 16.6667 ZC3H7B 0 genome.wustl.edu 37 22 41745258 41745258 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 41745258 41745258 C T SNP ZC3H7B ENST00000351589 human ensembl 74_37 +1 known missense c.1901 p.A634V 1.000 smart_Znf_CCCH pfam_Znf_CCCH,pfam_TPR_1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ZC3H7B HGNC ENSG00000100403 87 0 0 77 6 7.22892 TOB2 0 genome.wustl.edu 37 22 41833079 41833079 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 41833079 41833079 T C SNP TOB2 ENST00000327492 human ensembl 74_37 -1 known missense c.271 p.S91G 1.000 pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 82 0 0 72 8 10 SREBF2 0 genome.wustl.edu 37 22 42262990 42262990 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 42262990 42262990 G A SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.244 p.G82R 0.008 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 95 0 0 76 10 11.6279 SREBF2 0 genome.wustl.edu 37 22 42269866 42269866 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 42269866 42269866 T C SNP SREBF2 ENST00000361204 human ensembl 74_37 +1 known missense c.932 p.V311A 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 27 0 0 21 3 12.5 NAGA 0 genome.wustl.edu 37 22 42458976 42458976 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 42458976 42458976 G A SNP NAGA ENST00000396398 human ensembl 74_37 -1 known missense c.812 p.A271V 1.000 superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors NAGA HGNC ENSG00000198951 63 0 0 48 3 5.88235 TCF20 0 genome.wustl.edu 37 22 42609857 42609857 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 42609857 42609857 G T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known silent c.1455 p.T485 0.970 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 247 0 0 204 14 6.42202 NFAM1 0 genome.wustl.edu 37 22 42807623 42807623 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 42807623 42807623 T C SNP NFAM1 ENST00000329021 human ensembl 74_37 -1 known missense c.241 p.S81G 0.000 NULL pfscan_Phos_immunorcpt_sig_ITAM - no_errors NFAM1 HGNC ENSG00000235568 100 0 0 82 7 7.86517 SERHL2 0 genome.wustl.edu 37 22 42969952 42969952 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 42969952 42969952 T C SNP SERHL2 ENST00000327678 human ensembl 74_37 +1 known missense c.836 p.F279S 0.001 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors SERHL2 HGNC ENSG00000183569 73 0 0 88 9 9.27835 RRP7B 0 genome.wustl.edu 37 22 42973096 42973096 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 42973096 42973096 C A SNP RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RRP7B HGNC ENSG00000182841 44 0 0 46 5 9.80392 CYB5R3 0 genome.wustl.edu 37 22 43023656 43023656 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 43023656 43023656 T A SNP CYB5R3 ENST00000361740 human ensembl 74_37 -1 known missense c.601 p.I201F 0.000 NULL pfam_OxRdtase_FAD-bd_dom,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,prints_NADH-Cyt_B5_reductase,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase - no_errors CYB5R3 HGNC ENSG00000100243 90 0 0 83 6 6.74157 A4GALT 0 genome.wustl.edu 37 22 43089576 43089576 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 43089576 43089576 G T SNP A4GALT ENST00000249005 human ensembl 74_37 -1 known missense c.382 p.L128M 1.000 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 86 0 0 103 11 9.64912 PACSIN2 0 genome.wustl.edu 37 22 43286998 43286998 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 43286998 43286998 G A SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known silent c.408 p.D136 0.969 NULL pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 54 0 0 44 13 22.807 MCAT 0 genome.wustl.edu 37 22 43533210 43533210 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 43533210 43533210 G A SNP MCAT ENST00000290429 human ensembl 74_37 -1 known silent c.606 p.S202 0.998 pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase pfam_Acyl_transferase,superfamily_Acyl_Trfase/lysoPLipase,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_acyl_transferase - no_errors MCAT HGNC ENSG00000100294 106 0 0 96 8 7.69231 EFCAB6 0 genome.wustl.edu 37 22 43950910 43950910 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 43950910 43950910 C T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.3487 p.D1163N 0.000 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 92 0 0 81 21 20.5882 EFCAB6 0 genome.wustl.edu 37 22 43950972 43950972 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 43950972 43950972 G A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.3425 p.A1142V 0.986 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 60 0 0 46 8 14.8148 EFCAB6 0 genome.wustl.edu 37 22 43950974 43950974 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 43950974 43950974 T G SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known silent c.3423 p.T1141 0.710 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 57 0 0 42 10 19.2308 SAMM50 0 genome.wustl.edu 37 22 44373776 44373776 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 44373776 44373776 G T SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known missense c.874 p.D292Y 1.000 pfam_Bac_surfAg_D15 pfam_Bac_surfAg_D15 - no_errors SAMM50 HGNC ENSG00000100347 41 0 0 31 4 11.4286 KIAA0930 0 genome.wustl.edu 37 22 45598993 45598993 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 45598993 45598993 G A SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known missense c.745 p.R249C 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 184 0 0 139 36 20.5714 FAM118A 0 genome.wustl.edu 37 22 45728581 45728581 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 45728581 45728581 G A SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known silent c.927 p.Q309 0.872 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 199 0 0 146 20 12.0482 PKDREJ 0 genome.wustl.edu 37 22 46655545 46655545 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 46655545 46655545 A T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.3675 p.D1225E 0.513 NULL pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 123 0 0 107 10 8.54701 PKDREJ 0 genome.wustl.edu 37 22 46655740 46655740 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 46655740 46655740 C A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.3480 p.M1160I 0.026 smart_GPS_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 193 0 0 123 40 24.5399 GTSE1 0 genome.wustl.edu 37 22 46712215 46712215 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 46712215 46712215 T C SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known silent c.1338 p.T446 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 185 0 0 141 12 7.84314 GTSE1 0 genome.wustl.edu 37 22 46719117 46719117 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 46719117 46719117 T G SNP GTSE1 ENST00000454366 human ensembl 74_37 +1 known missense c.1463 p.L488R 0.000 NULL NULL - no_errors GTSE1 HGNC ENSG00000075218 108 0 0 86 10 10.4167 GRAMD4 0 genome.wustl.edu 37 22 47071445 47071445 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 47071445 47071445 A G SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1559 p.Q520R 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 73 0 0 70 6 7.89474 CERK 0 genome.wustl.edu 37 22 47086049 47086049 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 47086049 47086049 T C SNP CERK ENST00000216264 human ensembl 74_37 -1 known missense c.1381 p.T461A 0.009 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 105 0 0 79 15 15.9574 TBC1D22A 0 genome.wustl.edu 37 22 47189568 47189568 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 47189568 47189568 C T SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known missense c.290 p.T97M 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 42 0 0 32 9 21.9512 TBC1D22A 0 genome.wustl.edu 37 22 47507445 47507445 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 47507445 47507445 C T SNP TBC1D22A ENST00000337137 human ensembl 74_37 +1 known silent c.1371 p.C457 0.979 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC ENSG00000054611 112 0 0 80 26 24.5283 ZBED4 0 genome.wustl.edu 37 22 50280486 50280486 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50280486 50280486 C T SNP ZBED4 ENST00000216268 human ensembl 74_37 +1 known missense c.3176 p.A1059V 0.000 superfamily_RNaseH-like_dom pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 64 0 0 68 6 8.10811 CRELD2 0 genome.wustl.edu 37 22 50313888 50313888 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50313888 50313888 C T SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known silent c.408 p.D136 1.000 superfamily_Growth_fac_rcpt_N_dom,pfscan_EG-like_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 61 0 0 47 8 14.5455 IL17REL 0 genome.wustl.edu 37 22 50437776 50437776 + Splice_Site SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50437776 50437776 T G SNP IL17REL ENST00000341280 human ensembl 74_37 -1 known splice_site c.547-2 e6-2 0.976 - - - no_errors IL17REL HGNC ENSG00000188263 63 0 0 66 22 25 MOV10L1 0 genome.wustl.edu 37 22 50599130 50599130 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50599130 50599130 A G SNP MOV10L1 ENST00000262794 human ensembl 74_37 +1 known missense c.3338 p.E1113G 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold - no_errors MOV10L1 HGNC ENSG00000073146 90 0 0 68 9 11.6883 MAPK12 0 genome.wustl.edu 37 22 50693732 50693732 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50693732 50693732 C T SNP MAPK12 ENST00000215659 human ensembl 74_37 -1 known silent c.918 p.L306 0.121 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_p38 - no_errors MAPK12 HGNC ENSG00000188130 99 0 0 105 6 5.40541 PPP6R2 0 genome.wustl.edu 37 22 50878428 50878428 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50878428 50878428 C T SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.2324 p.T775I 0.168 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 46 0 0 44 5 10.2041 SBF1 0 genome.wustl.edu 37 22 50894791 50894791 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50894791 50894791 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known silent c.4120 p.L1374 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 24 0 0 36 2 5.26316 SBF1 0 genome.wustl.edu 37 22 50906264 50906264 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50906264 50906264 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.230 p.R77H 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 42 0 0 40 3 6.97674 SBF1 0 genome.wustl.edu 37 22 50906852 50906852 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50906852 50906852 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.94 p.P32S 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 17 0 0 17 2 10.5263 NCAPH2 0 genome.wustl.edu 37 22 50956441 50956441 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50956441 50956441 G A SNP NCAPH2 ENST00000299821 human ensembl 74_37 +1 known missense c.460 p.A154T 0.978 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC ENSG00000025770 47 0 0 51 4 7.27273 NIT2 0 genome.wustl.edu 37 3 100067663 100067663 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 100067663 100067663 A C SNP NIT2 ENST00000394140 human ensembl 74_37 +1 known silent c.522 p.V174 0.541 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors NIT2 HGNC ENSG00000114021 68 0 0 72 5 6.49351 LNP1 0 genome.wustl.edu 37 3 100148609 100148609 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 100148609 100148609 T C SNP LNP1 ENST00000383693 human ensembl 74_37 +1 known silent c.36 p.S12 0.998 NULL NULL - no_errors LNP1 HGNC ENSG00000206535 459 0 0 458 28 5.76132 GPR128 0 genome.wustl.edu 37 3 100413729 100413729 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 100413729 100413729 T C SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.2278 p.Y760H 0.998 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 119 0 0 88 9 9.27835 GPR128 0 genome.wustl.edu 37 3 100413823 100413823 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 100413823 100413823 A T SNP GPR128 ENST00000273352 human ensembl 74_37 +1 known missense c.2372 p.D791V 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR128 HGNC ENSG00000144820 98 0 0 88 8 8.33333 IMPG2 0 genome.wustl.edu 37 3 100964745 100964745 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 100964745 100964745 T C SNP IMPG2 ENST00000193391 human ensembl 74_37 -1 known missense c.1444 p.S482G 0.901 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG2 HGNC ENSG00000081148 165 0 0 152 16 9.52381 FANCD2 0 genome.wustl.edu 37 3 10130195 10130195 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 10130195 10130195 A G SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.3529 p.I1177V 0.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 91 0 0 79 5 5.95238 ZBTB11 0 genome.wustl.edu 37 3 101370373 101370373 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 101370373 101370373 C T SNP ZBTB11 ENST00000312938 human ensembl 74_37 -1 known missense c.2799 p.M933I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 162 0 0 148 9 5.73248 NXPE3 0 genome.wustl.edu 37 3 101525942 101525942 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 101525942 101525942 G A SNP NXPE3 ENST00000273347 human ensembl 74_37 +1 known nonsense c.894 p.W298* 1.000 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE3 HGNC ENSG00000144815 134 0 0 99 26 20.8 IRAK2 0 genome.wustl.edu 37 3 10264468 10264468 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 10264468 10264468 C T SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.1162 p.R388W 0.744 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_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 132 0 0 114 20 14.9254 ATP2B2 0 genome.wustl.edu 37 3 10413630 10413630 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 10413630 10413630 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.1522 p.R508C 1.000 superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 106 1 0.934579 118 7 5.6 ATP2B2 0 genome.wustl.edu 37 3 10491114 10491114 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 10491114 10491114 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known silent c.114 p.R38 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 67 0 0 55 6 9.83607 CBLB 0 genome.wustl.edu 37 3 105378039 105378039 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 105378039 105378039 T C SNP CBLB ENST00000264122 human ensembl 74_37 -1 known silent c.2724 p.P908 0.995 superfamily_UBA-like pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC ENSG00000114423 100 0 0 110 11 9.09091 BBX 0 genome.wustl.edu 37 3 107463488 107463488 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 107463488 107463488 C T SNP BBX ENST00000325805 human ensembl 74_37 +1 known silent c.681 p.G227 0.528 pfam_TF_HMG_box_BBX_DUF2028 pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors BBX HGNC ENSG00000114439 178 0 0 133 9 6.33803 KIAA1524 0 genome.wustl.edu 37 3 108300296 108300296 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 108300296 108300296 T C SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.515 p.H172R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 64 0 0 54 6 10 DZIP3 0 genome.wustl.edu 37 3 108366943 108366943 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 108366943 108366943 T C SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.1946 p.L649P 0.691 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 138 0 0 104 10 8.77193 DZIP3 0 genome.wustl.edu 37 3 108392929 108392929 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 108392929 108392929 A T SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.2594 p.Y865F 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 158 0 0 147 10 6.36943 GUCA1C 0 genome.wustl.edu 37 3 108639352 108639352 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 108639352 108639352 C T SNP GUCA1C ENST00000261047 human ensembl 74_37 -1 known nonsense c.285 p.W95* 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 89 0 0 73 7 8.75 CD96 0 genome.wustl.edu 37 3 111356947 111356947 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 111356947 111356947 C T SNP CD96 ENST00000283285 human ensembl 74_37 +1 known missense c.1457 p.A486V 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD96 HGNC ENSG00000153283 112 0 0 95 7 6.86275 SLC9C1 0 genome.wustl.edu 37 3 111921193 111921193 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 111921193 111921193 C A SNP SLC9C1 ENST00000305815 human ensembl 74_37 -1 known missense c.2226 p.K742N 0.002 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 185 0 0 125 11 8.08824 SLC35A5 0 genome.wustl.edu 37 3 112292735 112292735 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 112292735 112292735 G T SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known splice_site c.361-1 e4-1 1.000 - - - no_errors SLC35A5 HGNC ENSG00000138459 261 2 0.760456 194 12 5.82524 SLC35A5 0 genome.wustl.edu 37 3 112299708 112299708 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 112299708 112299708 C T SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known silent c.744 p.I248 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 103 0 0 82 5 5.74713 BOC 0 genome.wustl.edu 37 3 112999441 112999441 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 112999441 112999441 G T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.2242 p.G748C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 87 0 0 71 8 10.1266 HRH1 0 genome.wustl.edu 37 3 11302082 11302082 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 11302082 11302082 C T SNP HRH1 ENST00000397056 human ensembl 74_37 +1 known silent c.1359 p.T453 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH1 HGNC ENSG00000196639 262 0 0 218 20 8.40336 SPICE1 0 genome.wustl.edu 37 3 113169271 113169271 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 113169271 113169271 T A SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known silent c.2235 p.L745 0.628 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 87 0 0 77 9 10.4651 KIAA2018 0 genome.wustl.edu 37 3 113375207 113375207 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 113375207 113375207 A C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.5322 p.A1774 0.992 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 198 1 0.502513 192 14 6.79612 KIAA2018 0 genome.wustl.edu 37 3 113375611 113375611 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 113375611 113375611 T A SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.4918 p.M1640L 0.963 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 206 0 0 165 12 6.77966 KIAA2018 0 genome.wustl.edu 37 3 113375915 113375915 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 113375915 113375915 T C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known silent c.4614 p.L1538 0.999 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 82 0 0 64 4 5.88235 KIAA2018 0 genome.wustl.edu 37 3 113378568 113378568 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 113378568 113378568 A G SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.1961 p.V654A 0.980 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 188 1 0.529101 146 8 5.19481 QTRTD1 0 genome.wustl.edu 37 3 113798905 113798905 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 113798905 113798905 G T SNP QTRTD1 ENST00000281273 human ensembl 74_37 +1 known splice_site c.898+1 e6+1 1.000 - - - no_errors QTRTD1 HGNC ENSG00000151576 218 0 0 155 10 6.06061 DRD3 0 genome.wustl.edu 37 3 113890743 113890743 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 113890743 113890743 C T SNP DRD3 ENST00000383673 human ensembl 74_37 -1 known missense c.97 p.A33T 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D3_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD3 HGNC ENSG00000151577 22 0 0 25 12 32.4324 LSAMP 0 genome.wustl.edu 37 3 115738431 115738431 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 115738431 115738431 C T SNP LSAMP ENST00000490035 human ensembl 74_37 -1 known missense c.445 p.V149M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LSAMP HGNC ENSG00000185565 84 0 0 74 6 7.5 VGLL4 0 genome.wustl.edu 37 3 11643487 11643487 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 11643487 11643487 G T SNP VGLL4 ENST00000430365 human ensembl 74_37 -1 known missense c.92 p.A31D 1.000 NULL smart_TDU_repeat - no_errors VGLL4 HGNC ENSG00000144560 37 0 0 44 6 12 IGSF11 0 genome.wustl.edu 37 3 118621666 118621666 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 118621666 118621666 C A SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known nonsense c.997 p.E333* 0.994 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 215 1 0.462963 166 14 7.77778 C3orf30 0 genome.wustl.edu 37 3 118867070 118867070 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 118867070 118867070 G A SNP C3orf30 ENST00000295622 human ensembl 74_37 +1 known missense c.1442 p.R481H 0.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C3orf30 HGNC ENSG00000163424 123 0 0 98 28 22.2222 ARHGAP31 0 genome.wustl.edu 37 3 119084197 119084197 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 119084197 119084197 A G SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.135 p.I45M 0.988 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 70 0 0 50 10 16.6667 ARHGAP31 0 genome.wustl.edu 37 3 119120684 119120684 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 119120684 119120684 G C SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.1085 p.G362A 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 48 0 0 43 4 8.51064 POGLUT1 0 genome.wustl.edu 37 3 119207829 119207829 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 119207829 119207829 A G SNP POGLUT1 ENST00000295588 human ensembl 74_37 +1 known silent c.792 p.K264 0.997 pfam_LipoPS_modifying,smart_LipoPS_modifying pfam_LipoPS_modifying,smart_LipoPS_modifying - no_errors POGLUT1 HGNC ENSG00000163389 52 0 0 53 4 7.01754 ADPRH 0 genome.wustl.edu 37 3 119306347 119306347 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 119306347 119306347 A T SNP ADPRH ENST00000357003 human ensembl 74_37 +1 known missense c.696 p.K232N 0.997 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1,pirsf_ADP-ribosylarg_hydro - no_errors ADPRH HGNC ENSG00000144843 66 0 0 61 4 6.15385 GPR156 0 genome.wustl.edu 37 3 119912236 119912236 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 119912236 119912236 A G SNP GPR156 ENST00000315843 human ensembl 74_37 -1 known missense c.269 p.V90A 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 77 0 0 75 11 12.7907 HGD 0 genome.wustl.edu 37 3 120369653 120369653 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 120369653 120369653 G A SNP HGD ENST00000283871 human ensembl 74_37 -1 known silent c.402 p.H134 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 190 1 0.52356 142 43 23.2432 HGD 0 genome.wustl.edu 37 3 120393819 120393819 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 120393819 120393819 G A SNP HGD ENST00000283871 human ensembl 74_37 -1 known silent c.105 p.C35 1.000 pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase pfam_Homogentis_dOase,superfamily_RmlC_Cupin,tigrfam_Homogentis_dOase - no_errors HGD HGNC ENSG00000113924 195 0 0 171 13 7.06522 GTF2E1 0 genome.wustl.edu 37 3 120500128 120500128 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 120500128 120500128 A G SNP GTF2E1 ENST00000283875 human ensembl 74_37 +1 known silent c.1131 p.R377 0.000 pfam_TFIIE_asu_C pfam_TFIIEa/SarR/Rpc3_HTH_dom,pfam_TFIIE_asu_C,pfam_Znf_TFIIB,smart_TFIIE_asu - no_errors GTF2E1 HGNC ENSG00000153767 134 0 0 129 7 5.14706 POLQ 0 genome.wustl.edu 37 3 121263672 121263672 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 121263672 121263672 T A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.245 p.E82V 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 103 0 0 68 5 6.84932 FBXO40 0 genome.wustl.edu 37 3 121341232 121341232 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 121341232 121341232 T A SNP FBXO40 ENST00000338040 human ensembl 74_37 +1 known missense c.956 p.I319K 1.000 NULL superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO40 HGNC ENSG00000163833 124 0 0 120 11 8.39695 GOLGB1 0 genome.wustl.edu 37 3 121383850 121383850 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 121383850 121383850 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.9568 p.R3190W 0.956 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 62 0 0 56 5 8.19672 SLC15A2 0 genome.wustl.edu 37 3 121634113 121634113 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 121634113 121634113 T A SNP SLC15A2 ENST00000489711 human ensembl 74_37 +1 known missense c.568 p.S190T 1.000 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC ENSG00000163406 85 0 0 86 7 7.52688 CASR 0 genome.wustl.edu 37 3 121973127 121973127 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 121973127 121973127 G A SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.91 p.D31N 1.000 superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 128 0 0 85 12 12.3711 CASR 0 genome.wustl.edu 37 3 122002928 122002928 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122002928 122002928 G T SNP CASR ENST00000498619 human ensembl 74_37 +1 known missense c.2157 p.K719N 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 49 0 0 56 4 6.66667 CCDC58 0 genome.wustl.edu 37 3 122087062 122087062 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122087062 122087062 A T SNP CCDC58 ENST00000291458 human ensembl 74_37 -1 known missense c.285 p.D95E 1.000 pfam_Caffeine_induced_death_Cid2 pfam_Caffeine_induced_death_Cid2 - no_errors CCDC58 HGNC ENSG00000160124 127 0 0 85 7 7.6087 WDR5B 0 genome.wustl.edu 37 3 122133953 122133953 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122133953 122133953 G A SNP WDR5B ENST00000330689 human ensembl 74_37 -1 known silent c.423 p.I141 1.000 pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5B HGNC ENSG00000196981 90 0 0 70 5 6.66667 PARP9 0 genome.wustl.edu 37 3 122259515 122259515 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122259515 122259515 T G SNP PARP9 ENST00000360356 human ensembl 74_37 -1 known missense c.1674 p.E558D 1.000 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP9 HGNC ENSG00000138496 125 0 0 143 13 8.33333 DTX3L 0 genome.wustl.edu 37 3 122287953 122287953 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122287953 122287953 C T SNP DTX3L ENST00000296161 human ensembl 74_37 +1 known silent c.1017 p.G339 0.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3L HGNC ENSG00000163840 195 0 0 156 10 6.0241 PARP15 0 genome.wustl.edu 37 3 122334584 122334584 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122334584 122334584 T C SNP PARP15 ENST00000310366 human ensembl 74_37 +1 known silent c.28 p.L10 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP15 HGNC ENSG00000173200 81 0 0 60 5 7.69231 PARP14 0 genome.wustl.edu 37 3 122418877 122418877 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122418877 122418877 G A SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known silent c.1476 p.T492 0.000 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 60 0 0 31 5 13.8889 PARP14 0 genome.wustl.edu 37 3 122437464 122437464 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122437464 122437464 A G SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.4466 p.D1489G 0.098 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 313 0 0 225 21 8.53659 SEMA5B 0 genome.wustl.edu 37 3 122641228 122641228 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122641228 122641228 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.1501 p.R501C 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 14 0 0 12 4 25 PDIA5 0 genome.wustl.edu 37 3 122808124 122808124 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122808124 122808124 T C SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.152 p.V51A 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 130 0 0 118 20 14.4928 PDIA5 0 genome.wustl.edu 37 3 122869205 122869205 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 122869205 122869205 G A SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.1267 p.A423T 1.000 pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 49 0 0 68 7 9.33333 ADCY5 0 genome.wustl.edu 37 3 123018977 123018977 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 123018977 123018977 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.2890 p.A964T 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 53 0 0 51 6 10.5263 ADCY5 0 genome.wustl.edu 37 3 123166319 123166319 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 123166319 123166319 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.1074 p.S358 0.941 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 28 0 0 24 6 20 MYLK 0 genome.wustl.edu 37 3 123376176 123376176 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 123376176 123376176 G T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.4085 p.A1362D 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 47 0 0 46 8 14.8148 CCDC14 0 genome.wustl.edu 37 3 123634043 123634043 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 123634043 123634043 T C SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known silent c.2445 p.G815 0.000 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 79 0 0 84 8 8.69565 KALRN 0 genome.wustl.edu 37 3 124132336 124132336 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 124132336 124132336 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.2360 p.A787V 1.000 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 47 0 0 39 4 9.30233 KALRN 0 genome.wustl.edu 37 3 124379771 124379771 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 124379771 124379771 A G SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.6215 p.D2072G 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 143 0 0 135 8 5.59441 HEG1 0 genome.wustl.edu 37 3 124731782 124731782 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 124731782 124731782 G A SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.2641 p.L881F 0.000 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 139 0 0 146 16 9.87654 SLC41A3 0 genome.wustl.edu 37 3 125741771 125741771 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 125741771 125741771 C G SNP SLC41A3 ENST00000507008 human ensembl 74_37 -1 known missense c.194 p.C65S 0.004 NULL pfam_SLC41_membr_dom - no_errors SLC41A3 HGNC ENSG00000114544 121 0 0 151 11 6.79012 SLC41A3 0 genome.wustl.edu 37 3 125787043 125787043 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 125787043 125787043 C T SNP SLC41A3 ENST00000315891 human ensembl 74_37 -1 known missense c.20 p.R7Q 0.889 NULL pfam_SLC41_membr_dom,superfamily_Acyl_Trfase/lysoPLipase - no_errors SLC41A3 HGNC ENSG00000114544 49 0 0 76 8 9.52381 ALDH1L1 0 genome.wustl.edu 37 3 125850318 125850318 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 125850318 125850318 G A SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.1532 p.A511V 0.997 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 51 0 0 49 13 20.9677 ALDH1L1 0 genome.wustl.edu 37 3 125879768 125879768 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 125879768 125879768 G T SNP ALDH1L1 ENST00000393434 human ensembl 74_37 -1 known missense c.55 p.L19M 0.924 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L1 HGNC ENSG00000144908 84 0 0 94 6 6 CCDC37 0 genome.wustl.edu 37 3 126138999 126138999 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 126138999 126138999 C T SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.1012 p.R338W 0.001 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 41 0 0 32 4 11.1111 UROC1 0 genome.wustl.edu 37 3 126224593 126224593 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 126224593 126224593 G T SNP UROC1 ENST00000290868 human ensembl 74_37 -1 known missense c.764 p.A255D 1.000 pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase pfam_Urocanase,superfamily_Urocanase,pirsf_Urocanase - no_errors UROC1 HGNC ENSG00000159650 36 0 0 44 9 16.9811 CNTN6 0 genome.wustl.edu 37 3 1262436 1262436 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 1262436 1262436 T A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.121 p.L41I 0.002 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 149 0 0 124 16 11.4286 RAF1 0 genome.wustl.edu 37 3 12632428 12632428 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 12632428 12632428 T G SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known silent c.1299 p.T433 0.226 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_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 142 0 0 160 12 6.97674 RAF1 0 genome.wustl.edu 37 3 12641249 12641249 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 12641249 12641249 A G SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.1109 p.M370T 1.000 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_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 93 0 0 104 11 9.56522 PLXNA1 0 genome.wustl.edu 37 3 126707909 126707909 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 126707909 126707909 A G SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.473 p.H158R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNA1 HGNC ENSG00000114554 34 0 0 26 2 7.14286 PLXNA1 0 genome.wustl.edu 37 3 126735848 126735848 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 126735848 126735848 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.3244 p.R1082W 0.997 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 35 0 0 61 4 6.15385 PLXNA1 0 genome.wustl.edu 37 3 126749143 126749143 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 126749143 126749143 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.5119 p.R1707W 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 103 0 0 79 21 21 ABTB1 0 genome.wustl.edu 37 3 127395250 127395250 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 127395250 127395250 T C SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known silent c.456 p.S152 0.004 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB1 HGNC ENSG00000114626 58 0 0 72 21 22.5806 RUVBL1 0 genome.wustl.edu 37 3 127831737 127831737 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 127831737 127831737 C T SNP RUVBL1 ENST00000322623 human ensembl 74_37 -1 known missense c.355 p.A119T 1.000 pfam_TIP49_C,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 118 0 0 97 6 5.82524 TMEM40 0 genome.wustl.edu 37 3 12783956 12783956 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 12783956 12783956 C A SNP TMEM40 ENST00000431022 human ensembl 74_37 -1 known nonsense c.400 p.G134* 0.336 NULL NULL - no_errors TMEM40 HGNC ENSG00000088726 158 0 0 153 12 7.27273 EEFSEC 0 genome.wustl.edu 37 3 128077166 128077166 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 128077166 128077166 T C SNP EEFSEC ENST00000254730 human ensembl 74_37 +1 known missense c.1550 p.I517T 0.992 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 45 0 0 53 8 13.1148 CAND2 0 genome.wustl.edu 37 3 12858333 12858333 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 12858333 12858333 T C SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known silent c.1902 p.L634 0.999 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 111 0 0 107 10 8.54701 LOC653712 0 genome.wustl.edu 37 3 128584124 128584124 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 128584124 128584124 C T SNP LOC653712 ENST00000480931 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors RP11-723O4.2 Clone_based_vega_gene ENSG00000231305 37 0 0 36 4 10 KIAA1257 0 genome.wustl.edu 37 3 128707683 128707683 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 128707683 128707683 C T SNP KIAA1257 ENST00000265068 human ensembl 74_37 -1 known missense c.341 p.R114H 0.002 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 64 0 0 52 9 14.7541 KIAA1257 0 genome.wustl.edu 37 3 128711957 128711957 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 128711957 128711957 G T SNP KIAA1257 ENST00000265068 human ensembl 74_37 -1 known missense c.191 p.T64N 0.000 NULL NULL - no_errors KIAA1257 HGNC ENSG00000114656 120 1 0.826446 127 12 8.63309 GP9 0 genome.wustl.edu 37 3 128780907 128780907 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 128780907 128780907 C T SNP GP9 ENST00000307395 human ensembl 74_37 +1 known silent c.325 p.L109 0.000 smart_Cys-rich_flank_reg_C pfam_LRR-contain_N,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C - no_errors GP9 HGNC ENSG00000169704 20 0 0 15 4 21.0526 RAB43 0 genome.wustl.edu 37 3 128813922 128813922 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 128813922 128813922 C T SNP RAB43 ENST00000315150 human ensembl 74_37 -1 known missense c.295 p.D99N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB43 HGNC ENSG00000172780 47 0 0 48 4 7.69231 EFCAB12 0 genome.wustl.edu 37 3 129137111 129137111 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129137111 129137111 C T SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known missense c.667 p.A223T 0.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 36 0 0 46 3 6.12245 IFT122 0 genome.wustl.edu 37 3 129185775 129185775 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129185775 129185775 C T SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known silent c.759 p.A253 0.851 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 117 0 0 98 15 13.2743 IFT122 0 genome.wustl.edu 37 3 129195221 129195221 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129195221 129195221 T C SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.1033 p.Y345H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 82 0 0 92 8 8 IFT122 0 genome.wustl.edu 37 3 129195527 129195527 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129195527 129195527 A G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.1183 p.T395A 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 104 1 0.952381 108 6 5.26316 IFT122 0 genome.wustl.edu 37 3 129226602 129226602 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129226602 129226602 C G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.3036 p.H1012Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 73 0 0 90 9 9.09091 RHO 0 genome.wustl.edu 37 3 129249874 129249874 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129249874 129249874 G A SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.517 p.A173T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 43 0 0 54 6 10 PLXND1 0 genome.wustl.edu 37 3 129279264 129279264 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129279264 129279264 T C SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.5042 p.D1681G 0.997 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXND1 HGNC ENSG00000004399 15 0 0 22 3 12 IQSEC1 0 genome.wustl.edu 37 3 12944311 12944311 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 12944311 12944311 G A SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.2809 p.R937C 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 29 0 0 28 4 12.5 TRH 0 genome.wustl.edu 37 3 129695921 129695921 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129695921 129695921 T C SNP TRH ENST00000302649 human ensembl 74_37 +1 known silent c.591 p.C197 0.552 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 42 0 0 46 4 8 IQSEC1 0 genome.wustl.edu 37 3 12977116 12977116 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 12977116 12977116 T C SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.1442 p.D481G 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 92 0 0 95 10 9.52381 IQSEC1 0 genome.wustl.edu 37 3 12978142 12978142 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 12978142 12978142 C T SNP IQSEC1 ENST00000273221 human ensembl 74_37 -1 known missense c.416 p.R139H 1.000 pfscan_IQ_motif_EF-hand-BS pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC1 HGNC ENSG00000144711 24 0 0 18 2 10 ALG1L2 0 genome.wustl.edu 37 3 129816094 129816094 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129816094 129816094 G A SNP ALG1L2 ENST00000507643 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors ALG1L2 HGNC ENSG00000251287 37 0 0 40 6 13.0435 FAM86HP 0 genome.wustl.edu 37 3 129823065 129823065 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129823065 129823065 G A SNP FAM86HP ENST00000500074 human ensembl 74_37 -1 putative rna NULL NULL 0.969 - - - no_errors FAM86HP HGNC ENSG00000253540 32 0 0 32 7 17.9487 COL6A5 0 genome.wustl.edu 37 3 130159354 130159354 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130159354 130159354 A T SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.6172 p.I2058F 0.550 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 104 0 0 77 13 14.4444 COL6A6 0 genome.wustl.edu 37 3 130285978 130285978 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130285978 130285978 T C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.1715 p.I572T 0.993 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 172 0 0 174 11 5.94595 COL6A6 0 genome.wustl.edu 37 3 130300604 130300604 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130300604 130300604 A C SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.3747 p.K1249N 0.038 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 153 0 0 107 12 10.084 COL6A6 0 genome.wustl.edu 37 3 130311908 130311908 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130311908 130311908 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known nonsense c.4375 p.E1459* 1.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 347 1 0.287356 238 22 8.46154 COL6A6 0 genome.wustl.edu 37 3 130381128 130381128 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130381128 130381128 A G SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.6478 p.K2160E 0.036 pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 279 0 0 188 19 9.17874 PIK3R4 0 genome.wustl.edu 37 3 130405096 130405096 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130405096 130405096 G A SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.3434 p.T1145I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 109 0 0 75 7 8.53659 PIK3R4 0 genome.wustl.edu 37 3 130447430 130447430 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130447430 130447430 T C SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.1684 p.T562A 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 93 0 0 68 7 9.33333 ATP2C1 0 genome.wustl.edu 37 3 130682820 130682820 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130682820 130682820 C T SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.1007 p.A336V 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 122 0 0 100 22 18.0328 ASTE1 0 genome.wustl.edu 37 3 130743433 130743433 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130743433 130743433 G A SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.718 p.R240C 0.000 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 78 0 0 57 14 19.7183 ACPP 0 genome.wustl.edu 37 3 132051108 132051108 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132051108 132051108 C T SNP ACPP ENST00000351273 human ensembl 74_37 +1 known missense c.376 p.P126S 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPP HGNC ENSG00000014257 159 0 0 155 13 7.7381 ACPP 0 genome.wustl.edu 37 3 132068825 132068825 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132068825 132068825 A G SNP ACPP ENST00000351273 human ensembl 74_37 +1 known silent c.843 p.K281 0.004 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPP HGNC ENSG00000014257 76 0 0 48 6 11.1111 DNAJC13 0 genome.wustl.edu 37 3 132202234 132202234 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132202234 132202234 A G SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.2995 p.T999A 1.000 superfamily_ARM-type_fold,superfamily_GYF pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 61 0 0 56 4 6.66667 DNAJC13 0 genome.wustl.edu 37 3 132207831 132207831 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132207831 132207831 A G SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.3434 p.Y1145C 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 93 0 0 65 11 14.4737 DNAJC13 0 genome.wustl.edu 37 3 132257035 132257035 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132257035 132257035 G A SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.6641 p.G2214D 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 87 0 0 55 14 20.2899 ACKR4 0 genome.wustl.edu 37 3 132319590 132319590 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132319590 132319590 G A SNP ACKR4 ENST00000249887 human ensembl 74_37 +1 known missense c.349 p.A117T 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCRL1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors ACKR4 HGNC ENSG00000129048 141 0 0 126 9 6.66667 NPHP3 0 genome.wustl.edu 37 3 132402349 132402349 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132402349 132402349 A G SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.3590 p.V1197A 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 70 0 0 46 6 11.5385 NPHP3 0 genome.wustl.edu 37 3 132409456 132409456 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132409456 132409456 G A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.2609 p.P870L 0.989 NULL pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 124 0 0 111 7 5.9322 NPHP3 0 genome.wustl.edu 37 3 132432040 132432040 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132432040 132432040 G A SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.1048 p.L350F 0.634 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 59 0 0 42 3 6.66667 TOPBP1 0 genome.wustl.edu 37 3 133341983 133341983 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 133341983 133341983 T C SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.3130 p.K1044E 0.002 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 63 0 0 39 4 9.30233 TF 0 genome.wustl.edu 37 3 133494403 133494403 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 133494403 133494403 C A SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.1814 p.A605D 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 170 0 0 154 15 8.87574 SRPRB 0 genome.wustl.edu 37 3 133538536 133538536 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 133538536 133538536 G A SNP SRPRB ENST00000466490 human ensembl 74_37 +1 known missense c.742 p.A248T 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase - no_errors SRPRB HGNC ENSG00000144867 46 0 0 44 9 16.9811 NUP210 0 genome.wustl.edu 37 3 13363106 13363106 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 13363106 13363106 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.5145 p.P1715 0.001 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 118 0 0 119 13 9.84848 NUP210 0 genome.wustl.edu 37 3 13370369 13370369 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 13370369 13370369 C T SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.4188 p.V1396 0.994 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 79 0 0 63 9 12.5 AMOTL2 0 genome.wustl.edu 37 3 134089923 134089923 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 134089923 134089923 G A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.353 p.A118V 0.998 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 16 0 0 13 3 18.75 CEP63 0 genome.wustl.edu 37 3 134277113 134277113 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 134277113 134277113 A T SNP CEP63 ENST00000337090 human ensembl 74_37 +1 known missense c.1597 p.M533L 0.440 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 154 0 0 110 14 11.2903 KY 0 genome.wustl.edu 37 3 134323034 134323034 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 134323034 134323034 G A SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.1373 p.S458L 1.000 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 20 0 0 18 3 14.2857 KY 0 genome.wustl.edu 37 3 134338077 134338077 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 134338077 134338077 T C SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.623 p.D208G 1.000 pfam_Transglutaminase-like pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 107 0 0 122 10 7.57576 PPP2R3A 0 genome.wustl.edu 37 3 135720924 135720924 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 135720924 135720924 C T SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.584 p.T195M 0.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 101 0 0 71 11 13.4146 PPP2R3A 0 genome.wustl.edu 37 3 135721357 135721357 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 135721357 135721357 G A SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known silent c.1017 p.Q339 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 138 0 0 101 12 10.6195 MSL2 0 genome.wustl.edu 37 3 135870699 135870699 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 135870699 135870699 G A SNP MSL2 ENST00000309993 human ensembl 74_37 -1 known nonsense c.1024 p.R342* 1.000 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 99 0 0 74 22 22.9167 STAG1 0 genome.wustl.edu 37 3 136152490 136152490 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 136152490 136152490 G A SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.1558 p.R520C 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 70 0 0 66 5 7.04225 STAG1 0 genome.wustl.edu 37 3 136323179 136323179 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 136323179 136323179 A G SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.269 p.V90A 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 181 0 0 147 14 8.69565 NCK1 0 genome.wustl.edu 37 3 136665098 136665098 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 136665098 136665098 A G SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known silent c.900 p.G300 0.101 pfam_SH2,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2 pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 135 0 0 136 11 7.48299 IL20RB 0 genome.wustl.edu 37 3 136699431 136699431 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 136699431 136699431 A G SNP IL20RB ENST00000329582 human ensembl 74_37 +1 known missense c.212 p.Q71R 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL20RB HGNC ENSG00000174564 154 0 0 139 9 6.08108 CNTN6 0 genome.wustl.edu 37 3 1369239 1369239 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 1369239 1369239 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.1182 p.I394 0.003 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 58 0 0 44 10 18.5185 CLDN18 0 genome.wustl.edu 37 3 137749876 137749876 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 137749876 137749876 G A SNP CLDN18 ENST00000183605 human ensembl 74_37 +1 known missense c.679 p.A227T 0.918 prints_Claudin18 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 160 0 0 140 12 7.89474 ARMC8 0 genome.wustl.edu 37 3 137991841 137991841 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 137991841 137991841 A G SNP ARMC8 ENST00000469044 human ensembl 74_37 +1 known silent c.1512 p.K504 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 46 0 0 47 5 9.61538 ESYT3 0 genome.wustl.edu 37 3 138183274 138183274 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 138183274 138183274 G A SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.1003 p.A335T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 54 0 0 51 8 13.5593 ESYT3 0 genome.wustl.edu 37 3 138191352 138191352 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 138191352 138191352 C T SNP ESYT3 ENST00000389567 human ensembl 74_37 +1 known missense c.1888 p.P630S 0.001 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT3 HGNC ENSG00000158220 85 0 0 115 8 6.50407 PIK3CB 0 genome.wustl.edu 37 3 138383975 138383975 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 138383975 138383975 T C SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.2575 p.T859A 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 85 0 0 52 8 13.3333 PIK3CB 0 genome.wustl.edu 37 3 138452201 138452201 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 138452201 138452201 A G SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known splice_site c.1050+2 e6+2 1.000 - - - no_errors PIK3CB HGNC ENSG00000051382 34 0 0 22 2 8.33333 PIK3CB 0 genome.wustl.edu 37 3 138453548 138453548 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 138453548 138453548 T G SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known silent c.900 p.I300 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 119 0 0 103 7 6.36364 PIK3CB 0 genome.wustl.edu 37 3 138461549 138461549 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 138461549 138461549 C T SNP PIK3CB ENST00000289153 human ensembl 74_37 -1 known missense c.472 p.E158K 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 87 0 0 76 9 10.5882 GRK7 0 genome.wustl.edu 37 3 141497221 141497221 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 141497221 141497221 G A SNP GRK7 ENST00000264952 human ensembl 74_37 +1 known missense c.95 p.R32Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK7 HGNC ENSG00000114124 36 0 0 41 12 22.6415 TFDP2 0 genome.wustl.edu 37 3 141678643 141678643 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 141678643 141678643 G C SNP TFDP2 ENST00000489671 human ensembl 74_37 -1 known missense c.924 p.I308M 1.000 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP2 HGNC ENSG00000114126 123 0 0 90 9 9.09091 XRN1 0 genome.wustl.edu 37 3 142037739 142037739 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 142037739 142037739 T C SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.4408 p.T1470A 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 67 0 0 55 5 8.33333 ATR 0 genome.wustl.edu 37 3 142186802 142186802 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 142186802 142186802 T C SNP ATR ENST00000350721 human ensembl 74_37 -1 known missense c.6661 p.K2221E 1.000 superfamily_Kinase-like_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 158 0 0 125 12 8.75912 ATR 0 genome.wustl.edu 37 3 142242991 142242991 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 142242991 142242991 G T SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.3996 p.I1332 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 74 0 0 52 8 13.3333 CNTN6 0 genome.wustl.edu 37 3 1427478 1427478 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 1427478 1427478 T C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2701 p.S901P 1.000 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 104 0 0 112 7 5.88235 CHST2 0 genome.wustl.edu 37 3 142840751 142840751 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 142840751 142840751 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.1093 p.R365C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 51 0 0 42 11 20.7547 CHST2 0 genome.wustl.edu 37 3 142841186 142841186 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 142841186 142841186 C T SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.1528 p.R510W 1.000 superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 33 0 0 43 5 10.4167 SLC9A9 0 genome.wustl.edu 37 3 143185920 143185920 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 143185920 143185920 A G SNP SLC9A9 ENST00000316549 human ensembl 74_37 -1 known silent c.1428 p.F476 0.983 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A9 HGNC ENSG00000181804 38 0 0 37 9 19.5652 CNTN6 0 genome.wustl.edu 37 3 1444125 1444125 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 1444125 1444125 G A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2941 p.G981R 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 67 0 0 49 4 7.54717 GRIP2 0 genome.wustl.edu 37 3 14545130 14545130 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14545130 14545130 C A SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRIP2 HGNC ENSG00000144596 19 0 0 17 3 15 PLOD2 0 genome.wustl.edu 37 3 145824343 145824343 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 145824343 145824343 T G SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.591 p.K197N 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 122 0 0 96 13 11.9266 CCDC174 0 genome.wustl.edu 37 3 14708358 14708358 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14708358 14708358 A G SNP CCDC174 ENST00000383794 human ensembl 74_37 +1 known missense c.628 p.R210G 1.000 NULL NULL - no_errors CCDC174 HGNC ENSG00000154781 219 1 0.454545 187 11 5.55556 ZIC1 0 genome.wustl.edu 37 3 147128883 147128883 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 147128883 147128883 T C SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known splice_site c.982+2 e1+2 1.000 - - - no_errors ZIC1 HGNC ENSG00000152977 40 0 0 37 3 7.5 FGD5 0 genome.wustl.edu 37 3 14862604 14862604 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14862604 14862604 T C SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.2026 p.S676P 0.919 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 69 0 0 60 4 6.25 HLTF 0 genome.wustl.edu 37 3 148750057 148750057 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 148750057 148750057 C T SNP HLTF ENST00000310053 human ensembl 74_37 -1 known missense c.2980 p.E994K 0.990 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HLTF HGNC ENSG00000071794 71 0 0 35 3 7.89474 CP 0 genome.wustl.edu 37 3 148894077 148894077 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 148894077 148894077 A G SNP CP ENST00000264613 human ensembl 74_37 -1 known silent c.3141 p.H1047 0.128 pfam_Cu-oxidase_2,pfam_Cu-oxidase,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 119 0 0 113 8 6.61157 CP 0 genome.wustl.edu 37 3 148896212 148896212 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 148896212 148896212 A T SNP CP ENST00000264613 human ensembl 74_37 -1 known missense c.2868 p.N956K 0.996 pfam_Cu-oxidase,superfamily_Cupredoxin pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 110 0 0 87 11 11.2245 TM4SF18 0 genome.wustl.edu 37 3 149051032 149051032 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 149051032 149051032 G A SNP TM4SF18 ENST00000296059 human ensembl 74_37 -1 known silent c.138 p.Y46 1.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF18 HGNC ENSG00000163762 113 0 0 98 7 6.66667 COMMD2 0 genome.wustl.edu 37 3 149468597 149468597 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 149468597 149468597 T C SNP COMMD2 ENST00000483708 human ensembl 74_37 -1 known missense c.350 p.D117G 1.000 NULL pfam_HCaRG - no_errors COMMD2 HGNC ENSG00000114744 159 0 0 129 8 5.83942 FGD5 0 genome.wustl.edu 37 3 14949150 14949150 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14949150 14949150 A G SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3268 p.N1090D 1.000 superfamily_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 42 0 0 56 5 8.19672 FGD5 0 genome.wustl.edu 37 3 14960286 14960286 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14960286 14960286 T C SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.3515 p.V1172A 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 65 0 0 74 5 6.32911 FGD5 0 genome.wustl.edu 37 3 14960290 14960290 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14960290 14960290 C A SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known silent c.3519 p.P1173 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 63 0 0 75 8 9.63855 FGD5 0 genome.wustl.edu 37 3 14967691 14967691 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14967691 14967691 T C SNP FGD5 ENST00000285046 human ensembl 74_37 +1 known missense c.4183 p.Y1395H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 109 0 0 92 14 13.2075 RNF13 0 genome.wustl.edu 37 3 149678562 149678562 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 149678562 149678562 A G SNP RNF13 ENST00000344229 human ensembl 74_37 +1 known missense c.817 p.K273E 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF13 HGNC ENSG00000082996 69 0 0 41 5 10.8696 PFN2 0 genome.wustl.edu 37 3 149686261 149686261 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 149686261 149686261 T C SNP PFN2 ENST00000239940 human ensembl 74_37 -1 known missense c.209 p.K70R 1.000 pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates,prints_Profilin_eukaryotes/bac pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates,prints_Profilin_eukaryotes/bac - no_errors PFN2 HGNC ENSG00000070087 301 0 0 258 29 10.1045 EIF2A 0 genome.wustl.edu 37 3 150282089 150282089 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 150282089 150282089 T G SNP EIF2A ENST00000460851 human ensembl 74_37 +1 known missense c.396 p.C132W 1.000 pirsf_TIF2A pfam_TIF_beta_prop-like,pirsf_TIF2A - no_errors EIF2A HGNC ENSG00000144895 39 0 0 30 3 9.09091 SIAH2 0 genome.wustl.edu 37 3 150460021 150460021 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 150460021 150460021 G A SNP SIAH2 ENST00000312960 human ensembl 74_37 -1 known silent c.882 p.S294 0.899 pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like pfam_7-in-absentia-prot_TRAF-dom,superfamily_TRAF-like,pfscan_Znf_RING,pfscan_Znf_SIAH - no_errors SIAH2 HGNC ENSG00000181788 79 0 0 69 6 8 MED12L 0 genome.wustl.edu 37 3 150845683 150845683 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 150845683 150845683 A G SNP MED12L ENST00000474524 human ensembl 74_37 +1 known silent c.468 p.A156 0.996 pfam_Mediator_Med12 pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 95 0 0 73 9 10.9756 MED12L 0 genome.wustl.edu 37 3 150874007 150874007 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 150874007 150874007 T C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.616 p.Y206H 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 83 0 0 72 9 11.1111 MRPS25 0 genome.wustl.edu 37 3 15094115 15094115 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 15094115 15094115 C T SNP MRPS25 ENST00000253686 human ensembl 74_37 -1 known missense c.355 p.E119K 1.000 NULL pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH - no_errors MRPS25 HGNC ENSG00000131368 158 0 0 126 29 18.7097 GPR87 0 genome.wustl.edu 37 3 151012189 151012189 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151012189 151012189 C A SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known missense c.845 p.R282M 0.064 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 127 0 0 100 7 6.54206 GPR87 0 genome.wustl.edu 37 3 151012373 151012373 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151012373 151012373 T C SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known missense c.661 p.I221V 0.988 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 110 0 0 70 7 9.09091 P2RY12 0 genome.wustl.edu 37 3 151055700 151055700 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151055700 151055700 T C SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known missense c.934 p.M312V 0.734 prints_P2Y12_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 149 0 0 106 15 12.3967 P2RY12 0 genome.wustl.edu 37 3 151055985 151055985 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151055985 151055985 A G SNP P2RY12 ENST00000302632 human ensembl 74_37 -1 known missense c.649 p.Y217H 0.990 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_rcpt,prints_P2Y14_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y12_rcpt,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors P2RY12 HGNC ENSG00000169313 61 0 0 62 7 10.1449 MED12L 0 genome.wustl.edu 37 3 151085503 151085503 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151085503 151085503 T C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.3292 p.S1098P 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 191 0 0 185 28 13.1455 MED12L 0 genome.wustl.edu 37 3 151102876 151102876 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151102876 151102876 T C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.4880 p.L1627S 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 236 0 0 160 12 6.97674 ZFYVE20 0 genome.wustl.edu 37 3 15116040 15116040 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 15116040 15116040 T A SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1604 p.E535V 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 92 0 0 83 9 9.78261 IGSF10 0 genome.wustl.edu 37 3 151161304 151161304 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151161304 151161304 T C SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.5431 p.S1811G 0.227 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 69 0 0 59 9 13.2353 IGSF10 0 genome.wustl.edu 37 3 151164151 151164151 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151164151 151164151 T A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.3618 p.Q1206H 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 185 0 0 163 10 5.78035 AADACL2 0 genome.wustl.edu 37 3 151458527 151458527 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151458527 151458527 T A SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.232 p.Y78N 0.001 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 108 0 0 66 6 8.33333 AADACL2 0 genome.wustl.edu 37 3 151458575 151458575 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151458575 151458575 T A SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.280 p.Y94N 0.601 pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 113 0 0 65 8 10.9589 AADACL2 0 genome.wustl.edu 37 3 151474982 151474982 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151474982 151474982 A C SNP AADACL2 ENST00000356517 human ensembl 74_37 +1 known missense c.806 p.H269P 1.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase - no_errors AADACL2 HGNC ENSG00000197953 136 0 0 139 9 6.08108 TMEM14E 0 genome.wustl.edu 37 3 152058522 152058522 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 152058522 152058522 G A SNP TMEM14E ENST00000408960 human ensembl 74_37 -1 known missense c.172 p.R58W 0.000 pfam_UPF0136_TM pfam_UPF0136_TM - no_errors TMEM14E HGNC ENSG00000221962 79 0 0 69 7 9.21053 P2RY1 0 genome.wustl.edu 37 3 152554074 152554074 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 152554074 152554074 C T SNP P2RY1 ENST00000305097 human ensembl 74_37 +1 known missense c.503 p.A168V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y1_rcpt,prints_GPCR_Rhodpsn - no_errors P2RY1 HGNC ENSG00000169860 68 0 0 68 7 9.33333 ARHGEF26 0 genome.wustl.edu 37 3 153840495 153840495 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 153840495 153840495 C G SNP ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known missense c.714 p.N238K 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 23 0 0 21 6 22.2222 DHX36 0 genome.wustl.edu 37 3 154007584 154007584 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 154007584 154007584 T G SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.1846 p.N616H 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 58 0 0 28 6 17.6471 DHX36 0 genome.wustl.edu 37 3 154033048 154033048 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 154033048 154033048 A G SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known silent c.390 p.T130 0.860 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 77 0 0 71 7 8.97436 GPR149 0 genome.wustl.edu 37 3 154146892 154146892 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 154146892 154146892 G T SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known silent c.513 p.G171 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 47 0 0 39 6 13.3333 MME 0 genome.wustl.edu 37 3 154834710 154834710 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 154834710 154834710 A G SNP MME ENST00000360490 human ensembl 74_37 +1 known missense c.589 p.K197E 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC ENSG00000196549 105 0 0 68 6 8.10811 PLCH1 0 genome.wustl.edu 37 3 155199955 155199955 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 155199955 155199955 G T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.3884 p.A1295D 0.865 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 265 2 0.749064 226 19 7.7551 PLCH1 0 genome.wustl.edu 37 3 155210593 155210593 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 155210593 155210593 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.2196 p.K732 0.993 superfamily_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 114 0 0 100 9 8.25688 PLCH1 0 genome.wustl.edu 37 3 155232571 155232571 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 155232571 155232571 A G SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.1537 p.F513L 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 90 0 0 80 6 6.97674 PLCH1 0 genome.wustl.edu 37 3 155232581 155232581 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 155232581 155232581 A T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.1527 p.D509E 0.980 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 93 0 0 80 9 10.1124 PLCH1 0 genome.wustl.edu 37 3 155314063 155314063 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 155314063 155314063 G A SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.148 p.R50C 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 230 0 0 216 14 6.08696 SLC33A1 0 genome.wustl.edu 37 3 155571069 155571069 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 155571069 155571069 A G SNP SLC33A1 ENST00000359479 human ensembl 74_37 -1 known missense c.718 p.F240L 1.000 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 82 0 0 63 10 13.6986 GMPS 0 genome.wustl.edu 37 3 155624029 155624029 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 155624029 155624029 C T SNP GMPS ENST00000496455 human ensembl 74_37 +1 known missense c.503 p.A168V 1.000 pfam_GATASE,pfam_Peptidase_C26,tigrfam_GMP_synth_N pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 217 0 0 154 14 8.33333 KCNAB1 0 genome.wustl.edu 37 3 156241671 156241671 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 156241671 156241671 A C SNP KCNAB1 ENST00000490337 human ensembl 74_37 +1 known missense c.1016 p.N339T 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB - no_errors KCNAB1 HGNC ENSG00000169282 160 1 0.621118 133 10 6.99301 VEPH1 0 genome.wustl.edu 37 3 156979019 156979019 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 156979019 156979019 C A SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known missense c.2406 p.K802N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 120 1 0.826446 102 9 8.10811 VEPH1 0 genome.wustl.edu 37 3 157031509 157031509 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 157031509 157031509 A G SNP VEPH1 ENST00000362010 human ensembl 74_37 -1 known silent c.1911 p.H637 0.008 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 131 0 0 78 6 7.14286 ANKRD28 0 genome.wustl.edu 37 3 15726808 15726808 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 15726808 15726808 C A SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.2323 p.A775S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 230 0 0 176 13 6.87831 ANKRD28 0 genome.wustl.edu 37 3 15731544 15731544 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 15731544 15731544 T C SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.1954 p.T652A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 32 0 0 17 3 15 ANKRD28 0 genome.wustl.edu 37 3 15753728 15753728 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 15753728 15753728 G A SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.1201 p.R401C 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 18 0 0 8 3 27.2727 GFM1 0 genome.wustl.edu 37 3 158364621 158364621 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 158364621 158364621 T C SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.457 p.C153R 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 64 0 0 48 3 5.88235 GFM1 0 genome.wustl.edu 37 3 158366884 158366884 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 158366884 158366884 T A SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known silent c.627 p.G209 0.009 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 183 0 0 147 8 5.16129 GFM1 0 genome.wustl.edu 37 3 158369951 158369951 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 158369951 158369951 G A SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known silent c.756 p.E252 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 115 0 0 85 11 11.4583 GFM1 0 genome.wustl.edu 37 3 158399908 158399908 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 158399908 158399908 T C SNP GFM1 ENST00000486715 human ensembl 74_37 +1 known missense c.1726 p.S576P 0.225 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,tigrfam_Transl_elong_EFG/EF2 pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom - no_errors GFM1 HGNC ENSG00000168827 40 0 0 36 2 5.26316 IFT80 0 genome.wustl.edu 37 3 160099392 160099392 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 160099392 160099392 A G SNP IFT80 ENST00000326448 human ensembl 74_37 -1 known missense c.158 p.L53P 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT80 HGNC ENSG00000068885 128 0 0 91 6 6.18557 SMC4 0 genome.wustl.edu 37 3 160146611 160146611 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 160146611 160146611 A G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known silent c.2676 p.V892 0.971 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Prefoldin pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 105 0 0 90 9 9.09091 TRIM59 0 genome.wustl.edu 37 3 160155817 160155817 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 160155817 160155817 T C SNP TRIM59 ENST00000309784 human ensembl 74_37 -1 known missense c.1155 p.I385M 0.000 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM59 HGNC ENSG00000213186 76 0 0 46 5 9.80392 NMD3 0 genome.wustl.edu 37 3 160951189 160951189 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 160951189 160951189 A G SNP NMD3 ENST00000351193 human ensembl 74_37 +1 known silent c.279 p.V93 0.908 pfam_NMD3 pfam_NMD3 - no_errors NMD3 HGNC ENSG00000169251 71 0 0 47 4 7.84314 ENSG00000269888 0 genome.wustl.edu 37 3 161146942 161146942 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 161146942 161146942 A G SNP ENSG00000269888 ENST00000602890 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-3P17.5 Clone_based_vega_gene ENSG00000269888 148 0 0 88 25 22.1239 GALNT15 0 genome.wustl.edu 37 3 16260950 16260950 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 16260950 16260950 G T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.1433 p.R478M 0.998 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 173 0 0 161 11 6.39535 GALNT15 0 genome.wustl.edu 37 3 16261424 16261424 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 16261424 16261424 A C SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.1532 p.N511T 0.978 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 236 0 0 210 15 6.66667 SI 0 genome.wustl.edu 37 3 164750471 164750471 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 164750471 164750471 C G SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.2575 p.D859H 0.000 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 60 0 0 48 5 9.43396 SI 0 genome.wustl.edu 37 3 164764647 164764647 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 164764647 164764647 A G SNP SI ENST00000264382 human ensembl 74_37 -1 known silent c.1869 p.S623 0.145 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 138 0 0 103 6 5.50459 SLITRK3 0 genome.wustl.edu 37 3 164906123 164906123 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 164906123 164906123 C T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known silent c.2496 p.T832 0.042 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 109 0 0 117 8 6.4 BCHE 0 genome.wustl.edu 37 3 165547744 165547744 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 165547744 165547744 A G SNP BCHE ENST00000264381 human ensembl 74_37 -1 known missense c.1078 p.Y360H 1.000 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 48 0 0 42 5 10.6383 SERPINI2 0 genome.wustl.edu 37 3 167189553 167189553 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 167189553 167189553 G A SNP SERPINI2 ENST00000264677 human ensembl 74_37 -1 known nonsense c.70 p.Q24* 0.003 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI2 HGNC ENSG00000114204 234 0 0 186 11 5.58376 MECOM 0 genome.wustl.edu 37 3 168833263 168833263 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 168833263 168833263 T C SNP MECOM ENST00000494292 human ensembl 74_37 -1 known silent c.2397 p.G799 0.991 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 66 0 0 61 11 15.2778 MECOM 0 genome.wustl.edu 37 3 169099286 169099286 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 169099286 169099286 G A SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.64 p.P22S 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 37 0 0 27 7 20.5882 MYNN 0 genome.wustl.edu 37 3 169497203 169497203 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 169497203 169497203 A G SNP MYNN ENST00000349841 human ensembl 74_37 +1 known missense c.914 p.N305S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 60 0 0 52 5 8.77193 LRRC31 0 genome.wustl.edu 37 3 169574164 169574164 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 169574164 169574164 T A SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known missense c.783 p.L261F 0.996 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 148 0 0 82 6 6.81818 LOC100128164 0 genome.wustl.edu 37 3 169664276 169664276 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 169664276 169664276 G T SNP LOC100128164 ENST00000483289 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-379K17.4 Clone_based_vega_gene ENSG00000239219 75 0 0 76 10 11.6279 GPR160 0 genome.wustl.edu 37 3 169801907 169801907 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 169801907 169801907 C T SNP GPR160 ENST00000355897 human ensembl 74_37 +1 known silent c.147 p.N49 0.000 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 134 0 0 89 7 7.29167 GPR160 0 genome.wustl.edu 37 3 169802241 169802241 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 169802241 169802241 T C SNP GPR160 ENST00000355897 human ensembl 74_37 +1 known missense c.481 p.Y161H 0.000 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 86 0 0 61 5 7.57576 PHC3 0 genome.wustl.edu 37 3 169831155 169831155 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 169831155 169831155 A G SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known silent c.2346 p.I782 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 66 0 0 75 7 8.53659 SLC7A14 0 genome.wustl.edu 37 3 170219127 170219127 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 170219127 170219127 G T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known nonsense c.312 p.C104* 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 26 0 0 28 3 9.67742 SLC7A14 0 genome.wustl.edu 37 3 170244439 170244439 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 170244439 170244439 A T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known missense c.287 p.V96D 0.996 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC7A14 HGNC ENSG00000013293 97 0 0 92 5 5.15464 PLCL2 0 genome.wustl.edu 37 3 17053060 17053060 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 17053060 17053060 G T SNP PLCL2 ENST00000418129 human ensembl 74_37 +1 known missense c.1844 p.S615I 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 68 0 0 58 6 9.375 EIF5A2 0 genome.wustl.edu 37 3 170611130 170611130 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 170611130 170611130 T C SNP EIF5A2 ENST00000460117 human ensembl 74_37 -1 putative rna NULL NULL 0.387 - - - no_errors EIF5A2 HGNC ENSG00000163577 53 0 0 40 6 13.0435 TNIK 0 genome.wustl.edu 37 3 170885049 170885049 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 170885049 170885049 A T SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.784 p.F262I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 82 0 0 55 4 6.77966 TNIK 0 genome.wustl.edu 37 3 170945964 170945964 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 170945964 170945964 T A SNP TNIK ENST00000436636 human ensembl 74_37 -1 known missense c.170 p.D57V 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors TNIK HGNC ENSG00000154310 123 0 0 85 8 8.60215 PLD1 0 genome.wustl.edu 37 3 171455832 171455832 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 171455832 171455832 T C SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.10 p.K4E 0.986 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 63 0 0 47 6 11.3208 TBC1D5 0 genome.wustl.edu 37 3 17202688 17202688 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 17202688 17202688 A G SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known missense c.2155 p.S719P 0.998 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 74 0 0 78 5 6.0241 GHSR 0 genome.wustl.edu 37 3 172165751 172165751 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 172165751 172165751 G A SNP GHSR ENST00000241256 human ensembl 74_37 -1 known silent c.453 p.A151 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn - no_errors GHSR HGNC ENSG00000121853 31 0 0 47 3 6 ECT2 0 genome.wustl.edu 37 3 172473166 172473166 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 172473166 172473166 T C SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known splice_site c.210+2 e2+2 1.000 - - - no_errors ECT2 HGNC ENSG00000114346 57 0 0 38 4 9.52381 ECT2 0 genome.wustl.edu 37 3 172482158 172482158 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 172482158 172482158 C T SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.1066 p.L356F 1.000 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 91 0 0 68 5 6.84932 SPATA16 0 genome.wustl.edu 37 3 172607409 172607409 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 172607409 172607409 C T SNP SPATA16 ENST00000351008 human ensembl 74_37 -1 known missense c.1661 p.R554Q 1.000 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 208 0 0 154 20 11.4943 NLGN1 0 genome.wustl.edu 37 3 173999064 173999064 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 173999064 173999064 C T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.2563 p.P855S 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 48 0 0 27 4 12.9032 ZMAT3 0 genome.wustl.edu 37 3 178748682 178748682 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 178748682 178748682 G T SNP ZMAT3 ENST00000311417 human ensembl 74_37 -1 known missense c.376 p.P126T 0.178 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT3 HGNC ENSG00000172667 142 0 0 166 14 7.77778 PIK3CA 0 genome.wustl.edu 37 3 178921493 178921493 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 178921493 178921493 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known silent c.975 p.K325 1.000 smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 152 0 0 120 13 9.77444 PIK3CA 0 genome.wustl.edu 37 3 178927472 178927472 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 178927472 178927472 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1235 p.R412Q 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 249 0 0 149 44 22.7979 PIK3CA 0 genome.wustl.edu 37 3 178936097 178936097 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 178936097 178936097 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1639 p.E547K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 102 0 0 92 7 7.07071 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 79 0 0 62 11 15.0685 ZNF639 0 genome.wustl.edu 37 3 179046093 179046093 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179046093 179046093 T A SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known nonsense c.12 p.Y4* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 56 0 0 34 4 10.5263 ZNF639 0 genome.wustl.edu 37 3 179052007 179052007 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179052007 179052007 T C SNP ZNF639 ENST00000326361 human ensembl 74_37 +1 known missense c.1255 p.C419R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 141 0 0 85 17 16.6667 MFN1 0 genome.wustl.edu 37 3 179093044 179093044 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179093044 179093044 G A SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.1012 p.E338K 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 56 0 0 45 5 10 MFN1 0 genome.wustl.edu 37 3 179095217 179095217 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179095217 179095217 T C SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known missense c.1310 p.V437A 0.998 NULL pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 149 0 0 93 10 9.70874 ACTL6A 0 genome.wustl.edu 37 3 179292257 179292257 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179292257 179292257 T C SNP ACTL6A ENST00000429709 human ensembl 74_37 +1 known splice_site c.476+2 e5+2 1.000 - - - no_errors ACTL6A HGNC ENSG00000136518 276 1 0.361011 205 15 6.81818 ACTL6A 0 genome.wustl.edu 37 3 179294685 179294685 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179294685 179294685 A G SNP ACTL6A ENST00000429709 human ensembl 74_37 +1 known missense c.752 p.H251R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6A HGNC ENSG00000136518 90 0 0 74 4 5.12821 MRPL47 0 genome.wustl.edu 37 3 179310501 179310501 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179310501 179310501 G A SNP MRPL47 ENST00000476781 human ensembl 74_37 -1 known missense c.560 p.P187L 1.000 NULL pfam_Ribosomal_L47_mit - no_errors MRPL47 HGNC ENSG00000136522 110 0 0 74 4 5.12821 TTC14 0 genome.wustl.edu 37 3 180322027 180322027 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 180322027 180322027 A C SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.501 p.L167F 0.650 superfamily_NA-bd_OB-fold,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 107 0 0 81 15 15.625 TTC14 0 genome.wustl.edu 37 3 180327713 180327713 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 180327713 180327713 T C SNP TTC14 ENST00000296015 human ensembl 74_37 +1 known missense c.1696 p.Y566H 0.922 NULL pfam_TPR_1,superfamily_NA-bd_OB-fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors TTC14 HGNC ENSG00000163728 306 0 0 255 15 5.55556 CCDC39 0 genome.wustl.edu 37 3 180364906 180364906 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 180364906 180364906 A G SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known silent c.1488 p.S496 0.013 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 148 0 0 118 7 5.6 FXR1 0 genome.wustl.edu 37 3 180686004 180686004 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 180686004 180686004 G A SNP FXR1 ENST00000357559 human ensembl 74_37 +1 known missense c.1364 p.R455H 1.000 pfam_Frag_X_MRP_fam 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 51 0 0 40 12 23.0769 ATP11B 0 genome.wustl.edu 37 3 182605474 182605474 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 182605474 182605474 T C SNP ATP11B ENST00000323116 human ensembl 74_37 +1 known missense c.2816 p.V939A 0.989 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 171 1 0.581395 128 12 8.57143 MCF2L2 0 genome.wustl.edu 37 3 183013131 183013131 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183013131 183013131 T C SNP MCF2L2 ENST00000328913 human ensembl 74_37 -1 known silent c.1632 p.S544 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2L2 HGNC ENSG00000053524 113 0 0 101 9 8.18182 KLHL6 0 genome.wustl.edu 37 3 183209848 183209848 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183209848 183209848 C T SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known missense c.1733 p.C578Y 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL6 HGNC ENSG00000172578 102 0 0 111 11 9.01639 KLHL24 0 genome.wustl.edu 37 3 183368392 183368392 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183368392 183368392 T C SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.248 p.V83A 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 181 0 0 159 13 7.55814 KLHL24 0 genome.wustl.edu 37 3 183390214 183390214 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183390214 183390214 A G SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.1544 p.Y515C 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL24 HGNC ENSG00000114796 68 0 0 38 5 11.6279 YEATS2 0 genome.wustl.edu 37 3 183435470 183435470 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183435470 183435470 T C SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known silent c.132 p.T44 0.997 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 176 0 0 138 12 8 YEATS2 0 genome.wustl.edu 37 3 183479352 183479352 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183479352 183479352 A G SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.1714 p.K572E 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 225 0 0 199 16 7.44186 ABCC5 0 genome.wustl.edu 37 3 183700588 183700588 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183700588 183700588 T A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.799 p.N267Y 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC5 HGNC ENSG00000114770 75 0 0 54 6 10 EIF2B5 0 genome.wustl.edu 37 3 183854437 183854437 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183854437 183854437 A G SNP EIF2B5 ENST00000273783 human ensembl 74_37 +1 known missense c.233 p.Y78C 1.000 NULL pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain - no_errors EIF2B5 HGNC ENSG00000145191 176 0 0 160 14 8.04598 ABCF3 0 genome.wustl.edu 37 3 183911336 183911336 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183911336 183911336 G A SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known silent c.1980 p.V660 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 177 0 0 195 16 7.58294 ECE2 0 genome.wustl.edu 37 3 183976238 183976238 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183976238 183976238 G A SNP ECE2 ENST00000324557 human ensembl 74_37 +1 known missense c.643 p.G215R 0.934 NULL pfam_Methyltransf_11,pfam_Methyltransf_12 - no_errors ECE2 HGNC ENSG00000145194 138 0 0 163 10 5.78035 PSMD2 0 genome.wustl.edu 37 3 184025236 184025236 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184025236 184025236 C T SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.2126 p.T709I 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 107 0 0 101 10 9.00901 EIF4G1 0 genome.wustl.edu 37 3 184049520 184049520 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184049520 184049520 A T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.4421 p.N1474I 1.000 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 145 0 0 130 12 8.4507 FAM131A 0 genome.wustl.edu 37 3 184062678 184062678 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184062678 184062678 C T SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known missense c.1021 p.R341W 0.001 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 11 0 0 23 5 17.8571 CLCN2 0 genome.wustl.edu 37 3 184069837 184069837 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184069837 184069837 A G SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known silent c.2379 p.A793 0.879 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 160 0 0 181 11 5.72917 CLCN2 0 genome.wustl.edu 37 3 184075458 184075458 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184075458 184075458 G A SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.722 p.A241V 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 83 0 0 82 9 9.89011 THPO 0 genome.wustl.edu 37 3 184090537 184090537 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184090537 184090537 A G SNP THPO ENST00000204615 human ensembl 74_37 -1 known missense c.826 p.S276P 0.001 NULL pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin - no_errors THPO HGNC ENSG00000090534 162 0 0 197 13 6.19048 EPHB3 0 genome.wustl.edu 37 3 184290963 184290963 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184290963 184290963 C T SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known silent c.855 p.R285 0.938 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 52 0 0 54 4 6.89655 EPHB3 0 genome.wustl.edu 37 3 184298290 184298290 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184298290 184298290 A G SNP EPHB3 ENST00000330394 human ensembl 74_37 +1 known missense c.2273 p.D758G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB3 HGNC ENSG00000182580 104 0 0 114 11 8.8 SATB1 0 genome.wustl.edu 37 3 18456661 18456661 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 18456661 18456661 T G SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.581 p.K194T 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 109 0 0 86 8 8.51064 VPS8 0 genome.wustl.edu 37 3 184632771 184632771 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184632771 184632771 G A SNP VPS8 ENST00000287546 human ensembl 74_37 +1 known missense c.2192 p.C731Y 1.000 superfamily_Quinonprotein_ADH-like_supfam superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors VPS8 HGNC ENSG00000156931 140 1 0.70922 105 8 7.07965 EHHADH 0 genome.wustl.edu 37 3 184922382 184922382 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184922382 184922382 G T SNP EHHADH ENST00000231887 human ensembl 74_37 -1 known silent c.732 p.P244 0.999 NULL pfam_Crotonase_core_superfam,pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors EHHADH HGNC ENSG00000113790 156 1 0.636943 165 18 9.83607 ETV5 0 genome.wustl.edu 37 3 185782253 185782253 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 185782253 185782253 C T SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.1049 p.C350Y 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 152 0 0 131 10 7.0922 CRYGS 0 genome.wustl.edu 37 3 186256574 186256574 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 186256574 186256574 A G SNP CRYGS ENST00000307944 human ensembl 74_37 -1 known missense c.448 p.Y150H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGS HGNC ENSG00000213139 61 0 0 62 4 6.06061 FETUB 0 genome.wustl.edu 37 3 186364090 186364090 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 186364090 186364090 T C SNP FETUB ENST00000265029 human ensembl 74_37 +1 known silent c.648 p.C216 0.341 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 261 0 0 201 19 8.63636 KNG1 0 genome.wustl.edu 37 3 186459531 186459531 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 186459531 186459531 G A SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known missense c.1346 p.R449H 0.993 prints_Kininogen pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 50 0 0 43 4 8.51064 EIF4A2 0 genome.wustl.edu 37 3 186505288 186505288 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 186505288 186505288 G A SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known missense c.917 p.G306D 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 162 0 0 148 36 19.5652 LEPREL1 0 genome.wustl.edu 37 3 189690672 189690672 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 189690672 189690672 C T SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.1690 p.A564T 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 75 0 0 58 4 6.45161 LEPREL1 0 genome.wustl.edu 37 3 189690757 189690757 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 189690757 189690757 G A SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known silent c.1605 p.S535 0.992 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 64 0 0 41 4 8.88889 TMEM207 0 genome.wustl.edu 37 3 190158100 190158100 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 190158100 190158100 T A SNP TMEM207 ENST00000354905 human ensembl 74_37 -1 known missense c.237 p.R79S 0.000 NULL NULL - no_errors TMEM207 HGNC ENSG00000198398 84 0 0 59 7 10.6061 IL1RAP 0 genome.wustl.edu 37 3 190341190 190341190 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 190341190 190341190 A T SNP IL1RAP ENST00000443369 human ensembl 74_37 +1 known missense c.761 p.Y254F 1.000 smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 104 0 0 75 7 8.53659 IL1RAP 0 genome.wustl.edu 37 3 190366254 190366254 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 190366254 190366254 C A SNP IL1RAP ENST00000072516 human ensembl 74_37 +1 known silent c.1473 p.A491 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ - no_errors IL1RAP HGNC ENSG00000196083 138 0 0 116 11 8.66142 OSTN 0 genome.wustl.edu 37 3 190930420 190930420 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 190930420 190930420 A G SNP OSTN ENST00000339051 human ensembl 74_37 +1 known silent c.99 p.T33 0.962 pfam_Osteocrin pfam_Osteocrin - no_errors OSTN HGNC ENSG00000188729 41 0 0 30 4 11.7647 FGF12 0 genome.wustl.edu 37 3 192125880 192125880 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 192125880 192125880 C T SNP FGF12 ENST00000454309 human ensembl 74_37 -1 known missense c.133 p.V45I 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF12 HGNC ENSG00000114279 122 0 0 134 28 17.284 MB21D2 0 genome.wustl.edu 37 3 192516331 192516331 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 192516331 192516331 T A SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known silent c.1320 p.P440 0.872 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 99 0 0 117 11 8.59375 ATP13A5 0 genome.wustl.edu 37 3 193039614 193039614 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 193039614 193039614 C A SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.1771 p.A591S 0.995 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 64 0 0 55 5 8.33333 ATP13A5 0 genome.wustl.edu 37 3 193071938 193071938 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 193071938 193071938 A G SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.584 p.I195T 1.000 pfam_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 113 0 0 78 10 11.3636 ATP13A4 0 genome.wustl.edu 37 3 193210730 193210730 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 193210730 193210730 A G SNP ATP13A4 ENST00000342695 human ensembl 74_37 -1 known missense c.509 p.L170S 0.988 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A4 HGNC ENSG00000127249 104 0 0 66 16 19.5122 KCNH8 0 genome.wustl.edu 37 3 19389261 19389261 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 19389261 19389261 T C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.615 p.S205 0.799 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 142 0 0 103 8 7.20721 LRRC15 0 genome.wustl.edu 37 3 194080147 194080147 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 194080147 194080147 G A SNP LRRC15 ENST00000439944 human ensembl 74_37 -1 known silent c.1644 p.A548 0.009 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 59 0 0 70 16 18.6047 GP5 0 genome.wustl.edu 37 3 194118737 194118737 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 194118737 194118737 C A SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.275 p.G92V 0.095 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 118 0 0 114 7 5.78512 ATP13A3 0 genome.wustl.edu 37 3 194158135 194158135 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 194158135 194158135 A G SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.1904 p.M635T 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 90 0 0 98 15 13.2743 KCNH8 0 genome.wustl.edu 37 3 19554610 19554610 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 19554610 19554610 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2228 p.G743V 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 76 0 0 63 10 13.6986 KCNH8 0 genome.wustl.edu 37 3 19559491 19559491 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 19559491 19559491 T A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2544 p.D848E 0.980 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 117 0 0 95 9 8.65385 KCNH8 0 genome.wustl.edu 37 3 19575180 19575180 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 19575180 19575180 A G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.2913 p.Q971 0.999 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 122 0 0 107 7 6.14035 TM4SF19 0 genome.wustl.edu 37 3 196050829 196050829 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196050829 196050829 G A SNP TM4SF19 ENST00000446879 human ensembl 74_37 -1 putative missense c.485 p.A162V 1.000 NULL pfam_L6_membrane - no_errors TM4SF19 HGNC ENSG00000145107 54 0 0 55 11 16.6667 FBXO45 0 genome.wustl.edu 37 3 196304328 196304328 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196304328 196304328 G A SNP FBXO45 ENST00000311630 human ensembl 74_37 +1 known missense c.323 p.R108H 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom - no_errors FBXO45 HGNC ENSG00000174013 50 0 0 40 4 9.09091 SENP5 0 genome.wustl.edu 37 3 196612777 196612777 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196612777 196612777 G A SNP SENP5 ENST00000323460 human ensembl 74_37 +1 known missense c.725 p.R242Q 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 69 0 0 78 5 6.0241 SENP5 0 genome.wustl.edu 37 3 196626927 196626927 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196626927 196626927 T C SNP SENP5 ENST00000323460 human ensembl 74_37 +1 known silent c.1752 p.N584 1.000 pfam_Peptidase_C48,pfscan_Peptidase_C48 pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 86 0 0 65 11 14.4737 PIGZ 0 genome.wustl.edu 37 3 196674693 196674693 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196674693 196674693 C T SNP PIGZ ENST00000412723 human ensembl 74_37 -1 known missense c.1075 p.A359T 0.036 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 70 0 0 73 4 5.19481 MFI2 0 genome.wustl.edu 37 3 196751234 196751234 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196751234 196751234 G A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known missense c.427 p.P143S 1.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 67 0 0 74 6 7.5 IQCG 0 genome.wustl.edu 37 3 197665523 197665523 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 197665523 197665523 G A SNP IQCG ENST00000265239 human ensembl 74_37 -1 known silent c.411 p.G137 0.018 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 394 0 0 284 37 11.5265 LMLN 0 genome.wustl.edu 37 3 197707271 197707271 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 197707271 197707271 T G SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.624 p.D208E 0.995 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 189 0 0 159 10 5.91716 EFHB 0 genome.wustl.edu 37 3 19959879 19959879 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 19959879 19959879 G T SNP EFHB ENST00000295824 human ensembl 74_37 -1 known missense c.1022 p.P341H 0.962 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHB HGNC ENSG00000163576 149 0 0 131 11 7.74648 RAB5A 0 genome.wustl.edu 37 3 20017562 20017562 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 20017562 20017562 T A SNP RAB5A ENST00000273047 human ensembl 74_37 +1 known missense c.339 p.N113K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB5A HGNC ENSG00000144566 68 0 0 59 6 9.23077 KAT2B 0 genome.wustl.edu 37 3 20164248 20164248 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 20164248 20164248 C T SNP KAT2B ENST00000263754 human ensembl 74_37 +1 known silent c.1365 p.N455 0.991 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2B HGNC ENSG00000114166 61 0 0 55 4 6.77966 NKIRAS1 0 genome.wustl.edu 37 3 23952357 23952357 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 23952357 23952357 T A SNP NKIRAS1 ENST00000388759 human ensembl 74_37 -1 known missense c.39 p.L13F 0.084 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NKIRAS1 HGNC ENSG00000197885 40 0 0 39 6 13.3333 NR1D2 0 genome.wustl.edu 37 3 24003739 24003739 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 24003739 24003739 T A SNP NR1D2 ENST00000312521 human ensembl 74_37 +1 known missense c.789 p.D263E 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 57 0 0 56 4 6.66667 RARB 0 genome.wustl.edu 37 3 25215993 25215993 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 25215993 25215993 A T SNP RARB ENST00000404969 human ensembl 74_37 +1 known silent c.105 p.G35 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 63 0 0 76 10 11.6279 RARB 0 genome.wustl.edu 37 3 25502818 25502818 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 25502818 25502818 T A SNP RARB ENST00000404969 human ensembl 74_37 +1 known missense c.313 p.C105S 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 104 0 0 104 28 21.2121 TOP2B 0 genome.wustl.edu 37 3 25641012 25641012 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 25641012 25641012 G A SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known nonsense c.4624 p.R1542* 1.000 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 45 0 0 37 5 11.9048 NEK10 0 genome.wustl.edu 37 3 27204208 27204208 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 27204208 27204208 T A SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known silent c.789 p.G263 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 80 0 0 64 4 5.88235 CMC1 0 genome.wustl.edu 37 3 28357873 28357873 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 28357873 28357873 C A SNP CMC1 ENST00000466830 human ensembl 74_37 +1 known nonsense c.159 p.C53* 1.000 pfam_Cyt_c_biogenesis_Cmc1-like pfam_Cyt_c_biogenesis_Cmc1-like - no_errors CMC1 HGNC ENSG00000187118 55 0 0 36 2 5.26316 ZCWPW2 0 genome.wustl.edu 37 3 28566019 28566019 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 28566019 28566019 T C SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.911 p.L304S 0.269 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 285 0 0 229 15 6.14754 TGFBR2 0 genome.wustl.edu 37 3 30691806 30691806 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 30691806 30691806 A G SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.383 p.D128G 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 101 0 0 99 8 7.47664 TGFBR2 0 genome.wustl.edu 37 3 30713436 30713436 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 30713436 30713436 G A SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known missense c.836 p.R279H 1.000 pirsf_Transform_growth_fac-b_typ-2,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 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 99 0 0 71 22 23.6559 CNTN4 0 genome.wustl.edu 37 3 3081933 3081933 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 3081933 3081933 G A SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known silent c.2376 p.T792 0.667 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN4 HGNC ENSG00000144619 93 0 0 64 14 17.9487 IL5RA 0 genome.wustl.edu 37 3 3118291 3118291 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 3118291 3118291 A G SNP IL5RA ENST00000256452 human ensembl 74_37 -1 known silent c.1015 p.L339 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL5RA HGNC ENSG00000091181 77 0 0 56 4 6.66667 STT3B 0 genome.wustl.edu 37 3 31621492 31621492 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 31621492 31621492 T C SNP STT3B ENST00000295770 human ensembl 74_37 +1 known silent c.615 p.I205 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 187 0 0 152 9 5.59006 OSBPL10 0 genome.wustl.edu 37 3 31710251 31710251 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 31710251 31710251 T C SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.1979 p.N660S 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 139 0 0 114 8 6.55738 TRNT1 0 genome.wustl.edu 37 3 3188145 3188145 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 3188145 3188145 G A SNP TRNT1 ENST00000251607 human ensembl 74_37 +1 known missense c.640 p.D214N 1.000 NULL pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 80 0 0 65 6 8.4507 CRBN 0 genome.wustl.edu 37 3 3192623 3192623 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 3192623 3192623 G A SNP CRBN ENST00000231948 human ensembl 74_37 -1 known nonsense c.1255 p.R419* 1.000 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 51 0 0 40 5 11.1111 CRBN 0 genome.wustl.edu 37 3 3192649 3192649 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 3192649 3192649 G A SNP CRBN ENST00000231948 human ensembl 74_37 -1 known missense c.1229 p.S410L 0.972 NULL pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 49 0 0 43 5 10.4167 CMTM7 0 genome.wustl.edu 37 3 32483359 32483359 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 32483359 32483359 G A SNP CMTM7 ENST00000334983 human ensembl 74_37 +1 known missense c.187 p.V63M 0.983 pfam_Marvel pfam_Marvel - no_errors CMTM7 HGNC ENSG00000153551 117 0 0 96 28 22.5806 CMTM7 0 genome.wustl.edu 37 3 32483389 32483389 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 32483389 32483389 G A SNP CMTM7 ENST00000334983 human ensembl 74_37 +1 known missense c.217 p.A73T 0.966 pfam_Marvel pfam_Marvel - no_errors CMTM7 HGNC ENSG00000153551 131 0 0 118 8 6.34921 CMTM7 0 genome.wustl.edu 37 3 32493939 32493939 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 32493939 32493939 A C SNP CMTM7 ENST00000334983 human ensembl 74_37 +1 known missense c.488 p.K163T 1.000 NULL pfam_Marvel - no_errors CMTM7 HGNC ENSG00000153551 245 0 0 214 22 9.32203 CNOT10 0 genome.wustl.edu 37 3 32769230 32769230 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 32769230 32769230 T C SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known silent c.1263 p.C421 1.000 smart_TPR_repeat pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 84 0 0 56 11 16.4179 CNOT10 0 genome.wustl.edu 37 3 32804346 32804346 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 32804346 32804346 C T SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known nonsense c.2011 p.Q671* 1.000 NULL pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 90 0 0 67 4 5.6338 TRIM71 0 genome.wustl.edu 37 3 32859684 32859684 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 32859684 32859684 A T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.112 p.T38S 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 29 0 0 26 3 10.3448 TRIM71 0 genome.wustl.edu 37 3 32859686 32859686 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 32859686 32859686 G A SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.114 p.T38 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 28 0 0 23 4 14.8148 FBXL2 0 genome.wustl.edu 37 3 33425581 33425581 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 33425581 33425581 G A SNP FBXL2 ENST00000484457 human ensembl 74_37 +1 known missense c.1052 p.C351Y 1.000 NULL pfam_Leu-rich_rpt,pfam_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL2 HGNC ENSG00000153558 51 0 0 50 8 13.7931 CLASP2 0 genome.wustl.edu 37 3 33725942 33725942 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 33725942 33725942 C T SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.553 p.D185N 1.000 pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 220 0 0 171 18 9.52381 PDCD6IP 0 genome.wustl.edu 37 3 33866819 33866819 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 33866819 33866819 A T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.603 p.L201F 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 140 0 0 83 22 20.9524 PDCD6IP 0 genome.wustl.edu 37 3 33905536 33905536 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 33905536 33905536 C A SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known missense c.2174 p.P725H 1.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 116 0 0 87 8 8.42105 STAC 0 genome.wustl.edu 37 3 36422210 36422210 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 36422210 36422210 G A SNP STAC ENST00000273183 human ensembl 74_37 +1 known silent c.75 p.P25 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 33 0 0 14 9 39.1304 STAC 0 genome.wustl.edu 37 3 36547271 36547271 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 36547271 36547271 A G SNP STAC ENST00000273183 human ensembl 74_37 +1 known missense c.865 p.T289A 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors STAC HGNC ENSG00000144681 90 0 0 75 4 5.06329 DCLK3 0 genome.wustl.edu 37 3 36779103 36779103 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 36779103 36779103 C T SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1048 p.A350T 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 96 0 0 89 18 16.8224 TRANK1 0 genome.wustl.edu 37 3 36872603 36872603 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 36872603 36872603 A G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.8339 p.L2780P 0.114 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 128 0 0 139 10 6.71141 TRANK1 0 genome.wustl.edu 37 3 36873305 36873305 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 36873305 36873305 C T SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7637 p.R2546Q 1.000 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 72 0 0 84 7 7.69231 TRANK1 0 genome.wustl.edu 37 3 36893684 36893684 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 36893684 36893684 G A SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known nonsense c.4570 p.R1524* 0.011 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 65 0 0 51 12 19.0476 EPM2AIP1 0 genome.wustl.edu 37 3 37034495 37034495 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 37034495 37034495 C T SNP EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known missense c.74 p.R25H 0.975 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 76 0 0 73 14 16.092 LRRFIP2 0 genome.wustl.edu 37 3 37095362 37095362 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 37095362 37095362 C T SNP LRRFIP2 ENST00000336686 human ensembl 74_37 -1 known missense c.2146 p.A716T 1.000 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin - no_errors LRRFIP2 HGNC ENSG00000093167 124 0 0 103 10 8.84956 ITGA9 0 genome.wustl.edu 37 3 37845374 37845374 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 37845374 37845374 G A SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known missense c.2950 p.A984T 1.000 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 82 0 0 79 8 9.1954 VILL 0 genome.wustl.edu 37 3 38042991 38042991 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38042991 38042991 G T SNP VILL ENST00000283713 human ensembl 74_37 +1 known missense c.1227 p.K409N 0.210 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 66 0 0 61 5 7.57576 DLEC1 0 genome.wustl.edu 37 3 38080868 38080868 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38080868 38080868 A G SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.152 p.Y51C 0.001 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 59 0 0 67 6 8.21918 DLEC1 0 genome.wustl.edu 37 3 38125678 38125678 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38125678 38125678 G A SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known silent c.1203 p.T401 0.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 72 0 0 53 6 10.1695 DLEC1 0 genome.wustl.edu 37 3 38153716 38153716 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38153716 38153716 T C SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known missense c.3530 p.M1177T 0.435 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 107 0 0 125 17 11.9718 DLEC1 0 genome.wustl.edu 37 3 38158779 38158779 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38158779 38158779 C T SNP DLEC1 ENST00000346219 human ensembl 74_37 +1 known silent c.4386 p.Y1462 0.040 NULL superfamily_PapD-like - no_errors DLEC1 HGNC ENSG00000008226 28 0 0 29 4 12.1212 ACAA1 0 genome.wustl.edu 37 3 38173487 38173487 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38173487 38173487 C T SNP ACAA1 ENST00000418880 human ensembl 74_37 -1 known missense c.275 p.R92Q 0.989 NULL pfam_Thiolase_N,superfamily_Thiolase-like - no_errors ACAA1 HGNC ENSG00000060971 59 0 0 62 9 12.6761 OXSR1 0 genome.wustl.edu 37 3 38292940 38292940 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38292940 38292940 C T SNP OXSR1 ENST00000311806 human ensembl 74_37 +1 known silent c.1422 p.V474 0.536 NULL pfam_Prot_kinase_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors OXSR1 HGNC ENSG00000172939 277 0 0 232 25 9.72763 XYLB 0 genome.wustl.edu 37 3 38415972 38415972 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38415972 38415972 A T SNP XYLB ENST00000207870 human ensembl 74_37 +1 known missense c.867 p.R289S 0.999 NULL pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N - no_errors XYLB HGNC ENSG00000093217 68 0 0 73 11 13.0952 ACVR2B 0 genome.wustl.edu 37 3 38523762 38523762 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38523762 38523762 G A SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known missense c.1148 p.R383H 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_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2B HGNC ENSG00000114739 39 0 0 30 6 16.6667 SCN5A 0 genome.wustl.edu 37 3 38591817 38591817 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38591817 38591817 C T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.6046 p.V2016M 0.991 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 116 1 0.854701 105 24 18.6047 SCN5A 0 genome.wustl.edu 37 3 38596019 38596019 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38596019 38596019 A T SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4564 p.F1522I 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 112 0 0 107 10 8.54701 SCN5A 0 genome.wustl.edu 37 3 38649682 38649682 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38649682 38649682 T C SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.958 p.T320A 0.926 pfam_Ion_trans_dom,prints_Na_channel_a5su pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 109 1 0.909091 117 11 8.59375 SCN10A 0 genome.wustl.edu 37 3 38753796 38753796 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38753796 38753796 A G SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.3945 p.D1315 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 138 0 0 147 11 6.96203 SCN10A 0 genome.wustl.edu 37 3 38798267 38798267 + Silent SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38798267 38798267 G C SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.1188 p.V396 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 160 0 0 141 33 18.9655 LRRN1 0 genome.wustl.edu 37 3 3887314 3887314 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 3887314 3887314 G A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.989 p.R330H 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,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 LRRN1 HGNC ENSG00000175928 87 0 0 56 15 21.1268 LRRN1 0 genome.wustl.edu 37 3 3887411 3887411 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 3887411 3887411 T A SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known missense c.1086 p.N362K 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,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 LRRN1 HGNC ENSG00000175928 95 0 0 100 8 7.40741 SCN11A 0 genome.wustl.edu 37 3 38908837 38908837 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38908837 38908837 T A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.3926 p.D1309V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 113 0 0 72 6 7.69231 SCN11A 0 genome.wustl.edu 37 3 38913112 38913112 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38913112 38913112 G T SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.3583 p.L1195M 0.850 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 50 0 0 55 4 6.77966 GORASP1 0 genome.wustl.edu 37 3 39144266 39144266 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 39144266 39144266 A G SNP GORASP1 ENST00000319283 human ensembl 74_37 -1 known missense c.251 p.V84A 1.000 pfam_GRASP55/65_PDZ,superfamily_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 122 0 0 101 28 21.7054 XIRP1 0 genome.wustl.edu 37 3 39228564 39228564 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 39228564 39228564 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known silent c.2373 p.L791 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 51 0 0 66 12 15.3846 XIRP1 0 genome.wustl.edu 37 3 39230227 39230227 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 39230227 39230227 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.710 p.T237M 0.998 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 105 0 0 100 7 6.54206 XIRP1 0 genome.wustl.edu 37 3 39230238 39230238 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 39230238 39230238 C A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.699 p.K233N 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 110 0 0 100 8 7.40741 CX3CR1 0 genome.wustl.edu 37 3 39307504 39307504 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 39307504 39307504 A G SNP CX3CR1 ENST00000358309 human ensembl 74_37 -1 known missense c.593 p.M198T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Duffy_chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC ENSG00000168329 114 0 0 87 6 6.45161 SLC25A38 0 genome.wustl.edu 37 3 39433000 39433000 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 39433000 39433000 C T SNP SLC25A38 ENST00000273158 human ensembl 74_37 +1 known silent c.345 p.F115 0.982 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 389 1 0.25641 324 80 19.802 ENTPD3 0 genome.wustl.edu 37 3 40456320 40456320 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 40456320 40456320 A G SNP ENTPD3 ENST00000301825 human ensembl 74_37 +1 known missense c.586 p.N196D 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC ENSG00000168032 227 0 0 178 18 9.18367 ULK4 0 genome.wustl.edu 37 3 41607557 41607557 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 41607557 41607557 A G SNP ULK4 ENST00000301831 human ensembl 74_37 -1 known missense c.3185 p.V1062A 0.994 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ULK4 HGNC ENSG00000168038 79 0 0 63 6 8.69565 VIPR1 0 genome.wustl.edu 37 3 42576474 42576474 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 42576474 42576474 G A SNP VIPR1 ENST00000325123 human ensembl 74_37 +1 known missense c.1018 p.A340T 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 57 0 0 61 4 6.15385 VIPR1 0 genome.wustl.edu 37 3 42577688 42577688 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 42577688 42577688 G A SNP VIPR1 ENST00000325123 human ensembl 74_37 +1 known missense c.1289 p.C430Y 1.000 prints_GPCR_2_VIP_rcpt_1 pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 22 0 0 14 4 22.2222 NKTR 0 genome.wustl.edu 37 3 42679032 42679032 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 42679032 42679032 C T SNP NKTR ENST00000232978 human ensembl 74_37 +1 known silent c.1836 p.D612 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 220 0 0 145 48 24.8705 CYP8B1 0 genome.wustl.edu 37 3 42916705 42916705 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 42916705 42916705 A T SNP CYP8B1 ENST00000316161 human ensembl 74_37 -1 known missense c.604 p.L202I 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP8B1 HGNC ENSG00000180432 71 0 0 66 5 7.04225 ZNF662 0 genome.wustl.edu 37 3 42956105 42956105 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 42956105 42956105 T C SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known silent c.618 p.G206 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF662 HGNC ENSG00000182983 75 0 0 52 5 8.77193 SNRK 0 genome.wustl.edu 37 3 43344905 43344905 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 43344905 43344905 G A SNP SNRK ENST00000296088 human ensembl 74_37 +1 known silent c.210 p.V70 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 104 0 0 80 5 5.88235 SNRK 0 genome.wustl.edu 37 3 43389110 43389110 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 43389110 43389110 G A SNP SNRK ENST00000296088 human ensembl 74_37 +1 known silent c.1359 p.E453 0.994 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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 64 0 0 43 9 17.3077 ZNF445 0 genome.wustl.edu 37 3 44492035 44492035 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 44492035 44492035 T A SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.724 p.T242S 0.996 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 71 0 0 73 6 7.59494 ZNF852 0 genome.wustl.edu 37 3 44541791 44541791 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 44541791 44541791 G A SNP ZNF852 ENST00000436261 human ensembl 74_37 -1 known nonsense c.478 p.R160* 0.009 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 ZNF852 HGNC ENSG00000178917 96 0 0 55 9 14.0625 ZNF197 0 genome.wustl.edu 37 3 44685375 44685375 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 44685375 44685375 T G SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.2753 p.V918G 0.823 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 148 0 0 123 8 6.10687 ZNF35 0 genome.wustl.edu 37 3 44692631 44692631 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 44692631 44692631 A G SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known silent c.72 p.E24 0.920 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 64 0 0 62 17 21.519 ZNF35 0 genome.wustl.edu 37 3 44701410 44701410 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 44701410 44701410 C T SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known nonsense c.1555 p.R519* 0.592 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 89 0 0 85 12 12.3711 ITPR1 0 genome.wustl.edu 37 3 4558230 4558230 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 4558230 4558230 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.55 p.A19T 1.000 pfam_Ins145_P3_rcpt pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 214 0 0 156 11 6.58683 FYCO1 0 genome.wustl.edu 37 3 45972594 45972594 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 45972594 45972594 T C SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.4280 p.E1427G 0.999 superfamily_GOLD,pfscan_GOLD pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 32 0 0 31 4 11.4286 FYCO1 0 genome.wustl.edu 37 3 46008779 46008779 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 46008779 46008779 C G SNP FYCO1 ENST00000535325 human ensembl 74_37 -1 known missense c.2047 p.A683P 0.785 superfamily_Prefoldin pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors FYCO1 HGNC ENSG00000163820 117 0 0 130 8 5.7971 CCR3 0 genome.wustl.edu 37 3 46307353 46307353 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 46307353 46307353 A G SNP CCR3 ENST00000545097 human ensembl 74_37 +1 known missense c.767 p.Y256C 0.846 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR3,prints_Chemokine_CCR1 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1 - no_errors CCR3 HGNC ENSG00000183625 82 0 0 64 4 5.88235 CCR2 0 genome.wustl.edu 37 3 46399365 46399365 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 46399365 46399365 T A SNP CCR2 ENST00000292301 human ensembl 74_37 +1 known missense c.347 p.F116Y 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 444 0 0 398 34 7.87037 LTF 0 genome.wustl.edu 37 3 46484968 46484968 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 46484968 46484968 C T SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.1619 p.S540N 0.000 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 252 0 0 205 47 18.6508 ALS2CL 0 genome.wustl.edu 37 3 46729723 46729723 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 46729723 46729723 C T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.167 p.S56N 0.049 superfamily_DH-domain pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 46 0 0 50 7 12.2807 ITPR1 0 genome.wustl.edu 37 3 4687267 4687267 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 4687267 4687267 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.710 p.G237D 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 35 0 0 33 4 10.8108 NBEAL2 0 genome.wustl.edu 37 3 47037074 47037074 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47037074 47037074 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.1849 p.A617T 0.001 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 38 0 0 53 7 11.6667 NBEAL2 0 genome.wustl.edu 37 3 47037863 47037863 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47037863 47037863 C T SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.2254 p.P752S 0.998 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 40 0 0 48 4 7.69231 NBEAL2 0 genome.wustl.edu 37 3 47042782 47042782 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47042782 47042782 A G SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.4498 p.M1500V 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 60 0 0 67 4 5.6338 NBEAL2 0 genome.wustl.edu 37 3 47043945 47043945 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47043945 47043945 G A SNP NBEAL2 ENST00000450053 human ensembl 74_37 +1 known missense c.5236 p.D1746N 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL2 HGNC ENSG00000160796 49 0 0 61 9 12.8571 ITPR1 0 genome.wustl.edu 37 3 4715020 4715020 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 4715020 4715020 T C SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.2360 p.V787A 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 132 0 0 106 10 8.62069 KIF9 0 genome.wustl.edu 37 3 47288960 47288960 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47288960 47288960 C T SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.1136 p.R379H 0.941 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 144 0 0 142 10 6.57895 KIF9 0 genome.wustl.edu 37 3 47315142 47315142 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47315142 47315142 A G SNP KIF9 ENST00000265529 human ensembl 74_37 -1 known missense c.266 p.I89T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF9 HGNC ENSG00000088727 27 0 0 34 4 10.5263 PTPN23 0 genome.wustl.edu 37 3 47449865 47449865 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47449865 47449865 C T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known silent c.1215 p.P405 0.007 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 65 0 0 58 7 10.7692 PTPN23 0 genome.wustl.edu 37 3 47454597 47454597 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47454597 47454597 G A SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known silent c.4833 p.G1611 1.000 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 79 0 0 63 6 8.69565 PTPN23 0 genome.wustl.edu 37 3 47454675 47454675 + Nonstop_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47454675 47454675 A G SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known nonstop c.4911 p.*1637W 0.998 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 106 0 0 82 6 6.81818 CSPG5 0 genome.wustl.edu 37 3 47618735 47618735 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47618735 47618735 C T SNP CSPG5 ENST00000383738 human ensembl 74_37 -1 known missense c.781 p.D261N 1.000 pfam_Chon_Sulph_att pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 18 0 0 11 4 26.6667 SMARCC1 0 genome.wustl.edu 37 3 47787474 47787474 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47787474 47787474 A G SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.325 p.F109L 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 218 0 0 159 19 10.6742 DHX30 0 genome.wustl.edu 37 3 47870546 47870546 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47870546 47870546 C T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known silent c.288 p.S96 0.998 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 48 0 0 32 4 11.1111 DHX30 0 genome.wustl.edu 37 3 47889772 47889772 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47889772 47889772 C T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known nonsense c.2389 p.R797* 0.526 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 49 0 0 62 6 8.82353 DHX30 0 genome.wustl.edu 37 3 47890735 47890735 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47890735 47890735 C A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.2983 p.P995T 0.998 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 91 0 0 89 11 11 CDC25A 0 genome.wustl.edu 37 3 48200451 48200451 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48200451 48200451 C T SNP CDC25A ENST00000302506 human ensembl 74_37 -1 known missense c.1559 p.R520H 0.999 NULL pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 104 0 0 104 22 17.4603 CDC25A 0 genome.wustl.edu 37 3 48205845 48205845 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48205845 48205845 A G SNP CDC25A ENST00000302506 human ensembl 74_37 -1 known missense c.1274 p.V425A 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 66 0 0 70 6 7.89474 CAMP 0 genome.wustl.edu 37 3 48266137 48266137 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48266137 48266137 G T SNP CAMP ENST00000296435 human ensembl 74_37 +1 known missense c.363 p.R121S 0.000 NULL pfam_Cathelicidin,pfam_Cathlecidin_C - no_errors CAMP HGNC ENSG00000164047 135 1 0.735294 110 9 7.56303 NME6 0 genome.wustl.edu 37 3 48336637 48336637 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48336637 48336637 G A SNP NME6 ENST00000421967 human ensembl 74_37 -1 known missense c.346 p.R116C 0.210 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,prints_Nucleoside_diP_kinase - no_errors NME6 HGNC ENSG00000172113 52 0 0 67 10 12.987 ITPR1 0 genome.wustl.edu 37 3 4842131 4842131 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 4842131 4842131 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known silent c.6909 p.S2303 0.075 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 74 0 0 73 16 17.9775 PLXNB1 0 genome.wustl.edu 37 3 48456404 48456404 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48456404 48456404 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4013 p.R1338H 0.533 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB1 HGNC ENSG00000164050 86 0 0 81 14 14.7368 SHISA5 0 genome.wustl.edu 37 3 48510469 48510469 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48510469 48510469 A G SNP SHISA5 ENST00000465449 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SHISA5 HGNC ENSG00000164054 68 0 0 68 4 5.55556 COL7A1 0 genome.wustl.edu 37 3 48615911 48615911 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48615911 48615911 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.5462 p.G1821D 0.999 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 127 0 0 111 13 10.4839 TMEM89 0 genome.wustl.edu 37 3 48658279 48658279 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48658279 48658279 C T SNP TMEM89 ENST00000330862 human ensembl 74_37 -1 known missense c.476 p.G159E 0.454 NULL NULL - no_errors TMEM89 HGNC ENSG00000183396 114 0 0 136 9 6.2069 CELSR3 0 genome.wustl.edu 37 3 48697789 48697789 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48697789 48697789 T A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.2279 p.E760V 1.000 superfamily_Cadherin-like,pfscan_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 65 0 0 62 6 8.82353 NCKIPSD 0 genome.wustl.edu 37 3 48717233 48717233 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48717233 48717233 C T SNP NCKIPSD ENST00000294129 human ensembl 74_37 -1 known splice_site c.1350+1 e7+1 1.000 - - - no_errors NCKIPSD HGNC ENSG00000213672 89 0 0 89 8 8.24742 IP6K2 0 genome.wustl.edu 37 3 48725794 48725794 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48725794 48725794 A G SNP IP6K2 ENST00000328631 human ensembl 74_37 -1 known missense c.1193 p.V398A 0.999 pfam_IPK pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 85 0 0 76 4 5 ARIH2 0 genome.wustl.edu 37 3 48964946 48964946 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48964946 48964946 G A SNP ARIH2 ENST00000463204 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors ARIH2 HGNC ENSG00000177479 35 0 0 33 6 15.3846 ARIH2 0 genome.wustl.edu 37 3 48965063 48965063 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48965063 48965063 G A SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known silent c.72 p.E24 0.350 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 35 0 0 34 5 12.8205 ARIH2 0 genome.wustl.edu 37 3 48965110 48965110 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 48965110 48965110 T C SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.119 p.V40A 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 44 0 0 42 4 8.69565 ARIH2 0 genome.wustl.edu 37 3 49017838 49017838 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49017838 49017838 T A SNP ARIH2 ENST00000356401 human ensembl 74_37 +1 known missense c.1166 p.I389N 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors ARIH2 HGNC ENSG00000177479 98 0 0 77 6 7.22892 WDR6 0 genome.wustl.edu 37 3 49049542 49049542 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49049542 49049542 C T SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.665 p.A222V 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 72 0 0 65 13 16.6667 USP19 0 genome.wustl.edu 37 3 49148577 49148577 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49148577 49148577 A G SNP USP19 ENST00000398888 human ensembl 74_37 -1 known silent c.3042 p.G1014 0.918 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 67 0 0 85 11 11.4583 USP19 0 genome.wustl.edu 37 3 49148735 49148735 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49148735 49148735 A C SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.2972 p.I991S 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 76 0 0 90 10 10 LAMB2 0 genome.wustl.edu 37 3 49159770 49159770 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49159770 49159770 A G SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.4607 p.V1536A 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 71 0 0 67 6 8.21918 LAMB2 0 genome.wustl.edu 37 3 49163223 49163223 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49163223 49163223 G T SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known silent c.2445 p.L815 0.894 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 47 0 0 47 4 7.84314 CCDC71 0 genome.wustl.edu 37 3 49201174 49201174 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49201174 49201174 A G SNP CCDC71 ENST00000321895 human ensembl 74_37 -1 known silent c.468 p.G156 0.000 NULL NULL - no_errors CCDC71 HGNC ENSG00000177352 37 0 0 33 7 17.5 CCDC36 0 genome.wustl.edu 37 3 49293631 49293631 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49293631 49293631 A C SNP CCDC36 ENST00000296449 human ensembl 74_37 +1 known missense c.701 p.Q234P 1.000 NULL NULL - no_errors CCDC36 HGNC ENSG00000173421 160 0 0 128 18 12.3288 BSN 0 genome.wustl.edu 37 3 49689428 49689428 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49689428 49689428 C T SNP BSN ENST00000296452 human ensembl 74_37 +1 known silent c.2439 p.D813 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 41 0 0 36 4 10 BSN 0 genome.wustl.edu 37 3 49693315 49693315 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49693315 49693315 A T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.6326 p.D2109V 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 49 0 0 76 5 6.17284 BSN 0 genome.wustl.edu 37 3 49698225 49698225 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49698225 49698225 A T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.8947 p.I2983F 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 33 0 0 34 5 12.8205 MST1 0 genome.wustl.edu 37 3 49721785 49721785 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49721785 49721785 A G SNP MST1 ENST00000449682 human ensembl 74_37 -1 known missense c.1978 p.C660R 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MST1 HGNC ENSG00000173531 76 0 0 73 13 15.1163 RNF123 0 genome.wustl.edu 37 3 49737706 49737706 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49737706 49737706 G A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1031 p.G344D 0.998 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 46 0 0 34 3 8.10811 RNF123 0 genome.wustl.edu 37 3 49737739 49737739 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49737739 49737739 A C SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1064 p.Q355P 0.046 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 46 0 0 40 4 9.09091 RNF123 0 genome.wustl.edu 37 3 49740860 49740860 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49740860 49740860 A G SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.1751 p.E584G 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 25 0 0 21 5 19.2308 RNF123 0 genome.wustl.edu 37 3 49750027 49750027 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49750027 49750027 T A SNP RNF123 ENST00000327697 human ensembl 74_37 +1 known missense c.2612 p.I871N 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_Znf_RING,pfscan_B30.2/SPRY,pfscan_Znf_RING - no_errors RNF123 HGNC ENSG00000164068 57 0 0 65 4 5.7971 AMIGO3 0 genome.wustl.edu 37 3 49755433 49755433 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49755433 49755433 C T SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.1466 p.G489D 0.974 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 44 0 0 45 5 10 AMIGO3 0 genome.wustl.edu 37 3 49755718 49755718 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49755718 49755718 C T SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.1181 p.G394D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 36 0 0 41 6 12.766 AMIGO3 0 genome.wustl.edu 37 3 49756426 49756426 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49756426 49756426 G A SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.473 p.A158V 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 109 0 0 110 12 9.83607 AMIGO3 0 genome.wustl.edu 37 3 49756752 49756752 + Silent SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 49756752 49756752 G C SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known silent c.147 p.G49 0.017 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 70 0 0 76 5 6.17284 RBM6 0 genome.wustl.edu 37 3 50098595 50098595 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50098595 50098595 G T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.2294 p.R765M 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 58 0 0 37 6 13.9535 SEMA3F 0 genome.wustl.edu 37 3 50220395 50220395 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50220395 50220395 G A SNP SEMA3F ENST00000002829 human ensembl 74_37 +1 known missense c.962 p.R321Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3F HGNC ENSG00000001617 37 0 0 34 7 17.0732 NAT6 0 genome.wustl.edu 37 3 50334959 50334959 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50334959 50334959 C T SNP NAT6 ENST00000354862 human ensembl 74_37 -1 known splice_site c.3-1 e2-1 0.000 - - - no_errors NAT6 HGNC ENSG00000243477 66 0 0 62 14 18.4211 ZMYND10 0 genome.wustl.edu 37 3 50380781 50380781 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50380781 50380781 C G SNP ZMYND10 ENST00000231749 human ensembl 74_37 -1 known missense c.467 p.G156A 0.000 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 55 0 0 67 5 6.94444 NPRL2 0 genome.wustl.edu 37 3 50385278 50385278 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50385278 50385278 A T SNP NPRL2 ENST00000232501 human ensembl 74_37 -1 known nonsense c.987 p.Y329* 0.997 pfam_NPR2 pfam_NPR2 - no_errors NPRL2 HGNC ENSG00000114388 83 0 0 102 8 7.27273 CACNA2D2 0 genome.wustl.edu 37 3 50413106 50413106 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50413106 50413106 T C SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known missense c.1876 p.T626A 1.000 pfam_VDCC_a2/dsu pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 60 0 0 62 5 7.46269 CISH 0 genome.wustl.edu 37 3 50645108 50645108 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50645108 50645108 G A SNP CISH ENST00000443053 human ensembl 74_37 -1 known missense c.758 p.A253V 0.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors CISH HGNC ENSG00000114737 79 0 0 77 6 7.22892 CISH 0 genome.wustl.edu 37 3 50645243 50645243 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50645243 50645243 G A SNP CISH ENST00000443053 human ensembl 74_37 -1 known missense c.623 p.A208V 0.000 NULL pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors CISH HGNC ENSG00000114737 66 0 0 52 13 20 DOCK3 0 genome.wustl.edu 37 3 51101984 51101984 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51101984 51101984 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.421 p.E141K 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 137 0 0 110 10 8.33333 DOCK3 0 genome.wustl.edu 37 3 51352414 51352414 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51352414 51352414 A G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.3257 p.E1086G 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 35 0 0 34 4 10.5263 DOCK3 0 genome.wustl.edu 37 3 51352435 51352435 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51352435 51352435 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.3278 p.P1093L 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 44 0 0 32 6 15.7895 DOCK3 0 genome.wustl.edu 37 3 51352488 51352488 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51352488 51352488 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known missense c.3331 p.R1111W 0.997 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 60 0 0 41 7 14.5833 DOCK3 0 genome.wustl.edu 37 3 51376458 51376458 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51376458 51376458 A G SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.3765 p.T1255 0.998 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 30 0 0 17 3 15 DOCK3 0 genome.wustl.edu 37 3 51393879 51393879 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51393879 51393879 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.4458 p.S1486 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 123 0 0 111 11 9.01639 PCBP4 0 genome.wustl.edu 37 3 51992332 51992332 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51992332 51992332 C T SNP PCBP4 ENST00000395014 human ensembl 74_37 -1 known silent c.1020 p.T340 0.405 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 24 0 0 20 3 13.0435 POC1A 0 genome.wustl.edu 37 3 52183949 52183949 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52183949 52183949 C T SNP POC1A ENST00000296484 human ensembl 74_37 -1 known missense c.158 p.R53H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors POC1A HGNC ENSG00000164087 57 0 0 61 5 7.57576 TLR9 0 genome.wustl.edu 37 3 52255388 52255388 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52255388 52255388 G A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.3016 p.R1006W 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 43 0 0 56 8 12.5 TLR9 0 genome.wustl.edu 37 3 52257218 52257218 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52257218 52257218 G A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.1186 p.H396Y 0.006 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 95 0 0 106 8 7.01754 TLR9 0 genome.wustl.edu 37 3 52257565 52257565 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52257565 52257565 C T SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.839 p.R280H 0.974 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 17 0 0 36 5 12.1951 DNAH1 0 genome.wustl.edu 37 3 52383021 52383021 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52383021 52383021 A T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.2224 p.I742F 0.865 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 69 0 0 75 8 9.63855 DNAH1 0 genome.wustl.edu 37 3 52403902 52403902 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52403902 52403902 G A SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.6005 p.R2002H 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 77 0 0 68 8 10.5263 DNAH1 0 genome.wustl.edu 37 3 52429663 52429663 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52429663 52429663 A T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.11228 p.E3743V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 37 0 0 35 5 12.5 TNNC1 0 genome.wustl.edu 37 3 52485813 52485813 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52485813 52485813 G A SNP TNNC1 ENST00000232975 human ensembl 74_37 -1 known silent c.264 p.D88 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors TNNC1 HGNC ENSG00000114854 107 0 0 110 7 5.98291 TNNC1 0 genome.wustl.edu 37 3 52486162 52486162 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52486162 52486162 A G SNP TNNC1 ENST00000232975 human ensembl 74_37 -1 known silent c.162 p.P54 0.000 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors TNNC1 HGNC ENSG00000114854 119 0 0 120 10 7.69231 NISCH 0 genome.wustl.edu 37 3 52504925 52504925 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52504925 52504925 T C SNP NISCH ENST00000345716 human ensembl 74_37 +1 known splice_site c.409+2 e4+2 0.997 - - - no_errors NISCH HGNC ENSG00000010322 145 1 0.684932 133 9 6.33803 STAB1 0 genome.wustl.edu 37 3 52556242 52556242 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52556242 52556242 G A SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6461 p.G2154D 0.974 smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 44 0 0 59 5 7.8125 PBRM1 0 genome.wustl.edu 37 3 52598072 52598072 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52598072 52598072 T A SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.3869 p.Y1290F 1.000 NULL pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 71 0 0 52 4 7.14286 PBRM1 0 genome.wustl.edu 37 3 52643740 52643740 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52643740 52643740 T C SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.2156 p.Q719R 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 156 1 0.636943 124 14 10.1449 NEK4 0 genome.wustl.edu 37 3 52745874 52745874 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52745874 52745874 C T SNP NEK4 ENST00000233027 human ensembl 74_37 -1 known silent c.2445 p.R815 0.966 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 233 0 0 201 18 8.21918 ITIH1 0 genome.wustl.edu 37 3 52821105 52821105 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52821105 52821105 G T SNP ITIH1 ENST00000542827 human ensembl 74_37 +1 known splice_site c.1877+1 e14+1 0.997 - - - no_errors ITIH1 HGNC ENSG00000055957 99 0 0 98 6 5.76923 ITIH3 0 genome.wustl.edu 37 3 52833437 52833437 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52833437 52833437 T C SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known missense c.839 p.V280A 0.192 NULL pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 53 0 0 45 4 8.16327 TMEM110 0 genome.wustl.edu 37 3 52877754 52877754 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52877754 52877754 C T SNP TMEM110 ENST00000355083 human ensembl 74_37 -1 known missense c.601 p.V201I 1.000 pfam_DUF3661_TM pfam_DUF3661_TM - no_errors TMEM110 HGNC ENSG00000213533 119 0 0 111 13 10.4839 SFMBT1 0 genome.wustl.edu 37 3 52977522 52977522 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 52977522 52977522 T C SNP SFMBT1 ENST00000358080 human ensembl 74_37 -1 known missense c.211 p.T71A 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT1 HGNC ENSG00000163935 60 0 0 68 5 6.84932 CACNA1D 0 genome.wustl.edu 37 3 53700410 53700410 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 53700410 53700410 A G SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.964 p.N322D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 173 0 0 226 22 8.87097 CACNA1D 0 genome.wustl.edu 37 3 53757947 53757947 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 53757947 53757947 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.2081 p.G694D 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 119 0 0 90 10 10 CACNA1D 0 genome.wustl.edu 37 3 53783420 53783420 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 53783420 53783420 T C SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.3500 p.F1167S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 71 0 0 66 5 7.04225 IL17RB 0 genome.wustl.edu 37 3 53892801 53892801 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 53892801 53892801 T C SNP IL17RB ENST00000288167 human ensembl 74_37 +1 known missense c.803 p.V268A 0.128 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 52 0 0 39 5 11.3636 ACTR8 0 genome.wustl.edu 37 3 53902862 53902862 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 53902862 53902862 T A SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known nonsense c.1759 p.K587* 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 66 0 0 72 10 12.1951 CACNA2D3 0 genome.wustl.edu 37 3 54157558 54157558 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 54157558 54157558 G A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.141 p.S47 0.988 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 131 0 0 105 22 17.3228 CACNA2D3 0 genome.wustl.edu 37 3 54905633 54905633 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 54905633 54905633 A G SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known missense c.1694 p.E565G 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 98 0 0 79 5 5.95238 CACNA2D3 0 genome.wustl.edu 37 3 54922023 54922023 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 54922023 54922023 G A SNP CACNA2D3 ENST00000288197 human ensembl 74_37 +1 known silent c.2094 p.A698 0.004 NULL pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D3 HGNC ENSG00000157445 133 0 0 103 11 9.64912 LRTM1 0 genome.wustl.edu 37 3 54958982 54958982 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 54958982 54958982 C T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.268 p.A90T 0.982 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 60 0 0 52 10 16.129 ERC2 0 genome.wustl.edu 37 3 56114985 56114985 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 56114985 56114985 C T SNP ERC2 ENST00000288221 human ensembl 74_37 -1 known missense c.1501 p.E501K 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 55 0 0 37 7 15.9091 FAM208A 0 genome.wustl.edu 37 3 56657354 56657354 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 56657354 56657354 T A SNP FAM208A ENST00000355628 human ensembl 74_37 -1 known missense c.4541 p.D1514V 0.005 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 65 0 0 58 5 7.93651 SPATA12 0 genome.wustl.edu 37 3 57107810 57107810 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 57107810 57107810 G A SNP SPATA12 ENST00000334325 human ensembl 74_37 +1 known missense c.88 p.V30I 0.000 NULL NULL - no_errors SPATA12 HGNC ENSG00000186451 82 0 0 69 15 17.8571 HESX1 0 genome.wustl.edu 37 3 57232257 57232257 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 57232257 57232257 T C SNP HESX1 ENST00000295934 human ensembl 74_37 -1 known missense c.526 p.K176E 0.995 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HESX1 HGNC ENSG00000163666 97 0 0 43 11 20.3704 APPL1 0 genome.wustl.edu 37 3 57274552 57274552 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 57274552 57274552 T C SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known silent c.345 p.I115 0.979 NULL pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 107 0 0 66 9 12 ASB14 0 genome.wustl.edu 37 3 57312659 57312659 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 57312659 57312659 C T SNP ASB14 ENST00000389601 human ensembl 74_37 -1 known missense c.1177 p.A393T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,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,prints_Ankyrin_rpt - no_errors ASB14 HGNC ENSG00000239388 94 0 0 103 12 10.4348 FLNB 0 genome.wustl.edu 37 3 58104628 58104628 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 58104628 58104628 T C SNP FLNB ENST00000295956 human ensembl 74_37 +1 known silent c.2775 p.G925 0.330 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 129 1 0.769231 128 11 7.91367 RPP14 0 genome.wustl.edu 37 3 58302681 58302681 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 58302681 58302681 A G SNP RPP14 ENST00000295959 human ensembl 74_37 +1 known silent c.279 p.G93 1.000 pfam_RNase_P/MRP_subunit pfam_RNase_P/MRP_subunit - no_errors RPP14 HGNC ENSG00000163684 105 0 0 94 5 5.05051 ACOX2 0 genome.wustl.edu 37 3 58502969 58502969 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 58502969 58502969 G A SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.1814 p.A605V 0.005 pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 91 0 0 89 9 9.18367 FAM3D 0 genome.wustl.edu 37 3 58639434 58639434 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 58639434 58639434 T G SNP FAM3D ENST00000358781 human ensembl 74_37 -1 known missense c.88 p.S30R 0.000 NULL NULL - no_errors FAM3D HGNC ENSG00000198643 122 0 0 106 7 6.19469 PTPRG 0 genome.wustl.edu 37 3 62180761 62180761 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 62180761 62180761 C T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.1244 p.P415L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 118 1 0.840336 109 7 6.03448 PTPRG 0 genome.wustl.edu 37 3 62262706 62262706 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 62262706 62262706 A G SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.3619 p.N1207D 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_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 96 0 0 65 7 9.72222 SYNPR 0 genome.wustl.edu 37 3 63466614 63466614 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 63466614 63466614 C T SNP SYNPR ENST00000478300 human ensembl 74_37 +1 known missense c.191 p.A64V 0.678 pfam_Marvel,prints_Synaptophysin/porin pfam_Marvel,prints_Synaptophysin/porin - no_errors SYNPR HGNC ENSG00000163630 162 0 0 141 15 9.61538 ATXN7 0 genome.wustl.edu 37 3 63975959 63975959 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 63975959 63975959 T C SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known missense c.1469 p.L490S 0.997 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 64 0 0 73 5 6.41026 ADAMTS9 0 genome.wustl.edu 37 3 64589923 64589923 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 64589923 64589923 G A SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known nonsense c.3559 p.R1187* 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 72 0 0 65 15 18.75 ADAMTS9 0 genome.wustl.edu 37 3 64627598 64627598 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 64627598 64627598 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known nonsense c.1782 p.W594* 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 149 0 0 133 7 5 MAGI1 0 genome.wustl.edu 37 3 65416466 65416466 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 65416466 65416466 G A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.1454 p.T485M 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 81 0 0 84 7 7.69231 LRIG1 0 genome.wustl.edu 37 3 66430685 66430685 + RNA SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 66430685 66430685 A C SNP LRIG1 ENST00000495037 human ensembl 74_37 -1 known rna NULL NULL 0.884 - - - no_errors LRIG1 HGNC ENSG00000144749 53 0 0 49 7 12.5 LRIG1 0 genome.wustl.edu 37 3 66434438 66434438 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 66434438 66434438 G T SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.2048 p.A683D 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG1 HGNC ENSG00000144749 52 0 0 39 5 11.3636 KBTBD8 0 genome.wustl.edu 37 3 67054650 67054650 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 67054650 67054650 G A SNP KBTBD8 ENST00000417314 human ensembl 74_37 +1 known missense c.1259 p.C420Y 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD8 HGNC ENSG00000163376 183 0 0 140 15 9.67742 GRM7 0 genome.wustl.edu 37 3 6903101 6903101 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 6903101 6903101 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known missense c.26 p.R9H 0.947 prints_GPCR_3_mtglu_rcpt_7 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_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 22 0 0 14 4 22.2222 EOGT 0 genome.wustl.edu 37 3 69050797 69050797 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 69050797 69050797 A G SNP EOGT ENST00000383701 human ensembl 74_37 -1 known missense c.689 p.V230A 0.223 pfam_Glycosyltransferase_AER61 pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 68 0 0 49 3 5.76923 LMOD3 0 genome.wustl.edu 37 3 69168050 69168050 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 69168050 69168050 G A SNP LMOD3 ENST00000420581 human ensembl 74_37 -1 known missense c.1456 p.R486W 0.340 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 44 0 0 49 5 9.25926 MITF 0 genome.wustl.edu 37 3 69928327 69928327 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 69928327 69928327 C A SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.147 p.S49R 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 61 0 0 58 6 9.375 MITF 0 genome.wustl.edu 37 3 69987112 69987112 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 69987112 69987112 G A SNP MITF ENST00000448226 human ensembl 74_37 +1 known missense c.494 p.G165D 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MITF HGNC ENSG00000187098 68 0 0 72 5 6.49351 FOXP1 0 genome.wustl.edu 37 3 71015100 71015100 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 71015100 71015100 C A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.1830 p.M610I 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 175 0 0 162 18 10 FOXP1 0 genome.wustl.edu 37 3 71026102 71026102 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 71026102 71026102 G C SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.1520 p.A507G 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 104 0 0 75 5 6.25 PDZRN3 0 genome.wustl.edu 37 3 73432638 73432638 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 73432638 73432638 T C SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.3079 p.K1027E 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 294 0 0 242 15 5.83658 PDZRN3 0 genome.wustl.edu 37 3 73433389 73433389 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 73433389 73433389 G A SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known silent c.2328 p.D776 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 54 0 0 50 4 7.40741 CNTN3 0 genome.wustl.edu 37 3 74383974 74383974 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 74383974 74383974 G A SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.1580 p.P527L 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 79 0 0 73 6 7.59494 CNTN3 0 genome.wustl.edu 37 3 74420395 74420395 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 74420395 74420395 T G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known missense c.610 p.N204H 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 57 0 0 39 22 36.0656 ROBO2 0 genome.wustl.edu 37 3 77530337 77530337 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 77530337 77530337 A G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.634 p.R212G 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 274 0 0 231 16 6.47773 ROBO2 0 genome.wustl.edu 37 3 77629161 77629161 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 77629161 77629161 T A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2392 p.S798T 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 117 0 0 97 8 7.61905 ROBO1 0 genome.wustl.edu 37 3 78680329 78680329 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 78680329 78680329 T C SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.3608 p.N1203S 0.335 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 34 0 0 32 3 8.57143 ROBO1 0 genome.wustl.edu 37 3 78763600 78763600 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 78763600 78763600 A G SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.992 p.V331A 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 78 0 0 61 13 17.5676 LMCD1 0 genome.wustl.edu 37 3 8590426 8590426 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 8590426 8590426 A G SNP LMCD1 ENST00000157600 human ensembl 74_37 +1 known missense c.560 p.K187R 1.000 pfam_PET_domain pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LMCD1 HGNC ENSG00000071282 163 0 0 121 14 10.3704 SSUH2 0 genome.wustl.edu 37 3 8673737 8673737 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 8673737 8673737 G A SNP SSUH2 ENST00000544814 human ensembl 74_37 -1 known missense c.398 p.T133I 0.997 NULL superfamily_HSP_DnaJ_Cys-rich_dom - no_errors SSUH2 HGNC ENSG00000125046 59 0 0 51 4 7.27273 POU1F1 0 genome.wustl.edu 37 3 87313466 87313466 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 87313466 87313466 A G SNP POU1F1 ENST00000344265 human ensembl 74_37 -1 known silent c.489 p.N163 0.959 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU1F1 HGNC ENSG00000064835 133 0 0 118 11 8.52713 OXTR 0 genome.wustl.edu 37 3 8794806 8794806 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 8794806 8794806 G A SNP OXTR ENST00000316793 human ensembl 74_37 -1 known missense c.1027 p.R343C 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Oxytocn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 43 0 0 59 5 7.8125 OXTR 0 genome.wustl.edu 37 3 8794893 8794893 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 8794893 8794893 C T SNP OXTR ENST00000316793 human ensembl 74_37 -1 known missense c.940 p.V314I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 39 0 0 42 4 8.69565 OXTR 0 genome.wustl.edu 37 3 8809641 8809641 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 8809641 8809641 A G SNP OXTR ENST00000316793 human ensembl 74_37 -1 known missense c.233 p.M78T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC ENSG00000180914 16 0 0 25 3 10.7143 C3orf38 0 genome.wustl.edu 37 3 88205231 88205231 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 88205231 88205231 T C SNP C3orf38 ENST00000318887 human ensembl 74_37 +1 known missense c.436 p.C146R 1.000 NULL NULL - no_errors C3orf38 HGNC ENSG00000179021 61 0 0 50 5 9.09091 EPHA3 0 genome.wustl.edu 37 3 89391057 89391057 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 89391057 89391057 C T SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known missense c.1123 p.P375S 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 80 0 0 67 14 17.284 EPHA3 0 genome.wustl.edu 37 3 89498434 89498434 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 89498434 89498434 G A SNP EPHA3 ENST00000336596 human ensembl 74_37 +1 known silent c.2406 p.T802 0.128 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 117 1 0.847458 104 15 12.605 STX19 0 genome.wustl.edu 37 3 93733654 93733654 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 93733654 93733654 T C SNP STX19 ENST00000315099 human ensembl 74_37 -1 known missense c.460 p.T154A 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX19 HGNC ENSG00000178750 187 0 0 139 13 8.55263 SETD5 0 genome.wustl.edu 37 3 9517581 9517581 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 9517581 9517581 A G SNP SETD5 ENST00000402198 human ensembl 74_37 +1 known missense c.4135 p.R1379G 0.999 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 71 0 0 70 5 6.66667 EPHA6 0 genome.wustl.edu 37 3 96945107 96945107 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 96945107 96945107 G A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known splice_site c.1115-1 e4-1 1.000 - - - no_errors EPHA6 HGNC ENSG00000080224 93 0 0 76 7 8.43373 EPHA6 0 genome.wustl.edu 37 3 97251327 97251327 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 97251327 97251327 A G SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.2326 p.S776G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_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 94 0 0 66 15 18.5185 CRYBG3 0 genome.wustl.edu 37 3 97596328 97596328 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 97596328 97596328 A T SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.446 p.D149V 0.976 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 140 0 0 108 9 7.69231 MINA 0 genome.wustl.edu 37 3 97680537 97680537 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 97680537 97680537 T A SNP MINA ENST00000333396 human ensembl 74_37 -1 known missense c.448 p.I150F 1.000 pfam_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 93 0 0 91 10 9.90099 OR5H14 0 genome.wustl.edu 37 3 97868324 97868324 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 97868324 97868324 T C SNP OR5H14 ENST00000437310 human ensembl 74_37 +1 known missense c.95 p.L32S 0.241 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H14 HGNC ENSG00000236032 228 0 0 232 16 6.45161 OR5H6 0 genome.wustl.edu 37 3 97983222 97983222 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 97983222 97983222 G T SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known nonsense c.94 p.G32* 0.892 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H6 HGNC ENSG00000230301 257 1 0.387597 219 19 7.98319 OR5H6 0 genome.wustl.edu 37 3 97983483 97983483 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 97983483 97983483 T C SNP OR5H6 ENST00000383696 human ensembl 74_37 +1 known missense c.355 p.S119P 0.001 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 OR5H6 HGNC ENSG00000230301 217 0 0 158 16 9.1954 OR5H2 0 genome.wustl.edu 37 3 98002053 98002053 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 98002053 98002053 T C SNP OR5H2 ENST00000355273 human ensembl 74_37 +1 known missense c.322 p.S108P 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 OR5H2 HGNC ENSG00000197938 154 0 0 139 11 7.33333 OR5H2 0 genome.wustl.edu 37 3 98002164 98002164 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 98002164 98002164 C T SNP OR5H2 ENST00000355273 human ensembl 74_37 +1 known silent c.433 p.L145 0.001 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 OR5H2 HGNC ENSG00000197938 106 0 0 74 5 6.32911 OR5K2 0 genome.wustl.edu 37 3 98217044 98217044 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 98217044 98217044 A G SNP OR5K2 ENST00000427338 human ensembl 74_37 +1 known missense c.520 p.I174V 0.260 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K2 HGNC ENSG00000231861 252 1 0.395257 219 19 7.98319 GPR15 0 genome.wustl.edu 37 3 98251463 98251463 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 98251463 98251463 T C SNP GPR15 ENST00000284311 human ensembl 74_37 +1 known missense c.586 p.S196P 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 120 0 0 108 6 5.26316 ST3GAL6 0 genome.wustl.edu 37 3 98510729 98510729 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 98510729 98510729 G A SNP ST3GAL6 ENST00000394162 human ensembl 74_37 +1 known silent c.801 p.A267 0.890 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL6 HGNC ENSG00000064225 166 0 0 127 11 7.97101 DCBLD2 0 genome.wustl.edu 37 3 98518401 98518401 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 98518401 98518401 A G SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.2185 p.Y729H 0.996 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 163 0 0 159 18 10.1695 COL8A1 0 genome.wustl.edu 37 3 99513553 99513553 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 99513553 99513553 G T SNP COL8A1 ENST00000261037 human ensembl 74_37 +1 known nonsense c.808 p.G270* 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 57 0 0 70 4 5.40541 FILIP1L 0 genome.wustl.edu 37 3 99567352 99567352 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 99567352 99567352 A G SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known silent c.3168 p.T1056 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 184 0 0 177 21 10.6061 FILIP1L 0 genome.wustl.edu 37 3 99568036 99568036 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 99568036 99568036 A G SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known silent c.2484 p.Y828 0.937 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 193 0 0 173 21 10.8247 FILIP1L 0 genome.wustl.edu 37 3 99569857 99569857 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 99569857 99569857 C A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.663 p.K221N 0.975 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 161 0 0 134 9 6.29371 IL17RC 0 genome.wustl.edu 37 3 9959109 9959109 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 9959109 9959109 G A SNP IL17RC ENST00000295981 human ensembl 74_37 +1 known missense c.110 p.S37N 1.000 NULL pfam_SEFIR - no_errors IL17RC HGNC ENSG00000163702 45 0 0 51 4 7.27273 PRRT3 0 genome.wustl.edu 37 3 9991568 9991568 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 9991568 9991568 C T SNP PRRT3 ENST00000295984 human ensembl 74_37 -1 known missense c.232 p.A78T 0.000 NULL NULL - no_errors PRRT3 HGNC ENSG00000163704 61 0 0 81 8 8.98876 ADH7 0 genome.wustl.edu 37 4 100341722 100341722 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 100341722 100341722 T C SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known missense c.829 p.T277A 0.063 pfam_ADH_C pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 85 0 0 71 9 11.25 MTTP 0 genome.wustl.edu 37 4 100522814 100522814 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 100522814 100522814 G A SNP MTTP ENST00000265517 human ensembl 74_37 +1 known missense c.1287 p.M429I 1.000 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 169 0 0 120 10 7.69231 DNAJB14 0 genome.wustl.edu 37 4 100824976 100824976 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 100824976 100824976 A T SNP DNAJB14 ENST00000442697 human ensembl 74_37 -1 known missense c.922 p.Y308N 1.000 pfam_DUF1977_DnaJ-like pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB14 HGNC ENSG00000164031 96 0 0 65 5 7.14286 DNAJB14 0 genome.wustl.edu 37 4 100844339 100844339 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 100844339 100844339 T C SNP DNAJB14 ENST00000442697 human ensembl 74_37 -1 known missense c.309 p.I103M 1.000 superfamily_DnaJ_domain pfam_DUF1977_DnaJ-like,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB14 HGNC ENSG00000164031 64 0 0 39 3 7.14286 DDIT4L 0 genome.wustl.edu 37 4 101108899 101108899 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 101108899 101108899 C A SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known nonsense c.517 p.G173* 0.993 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 118 0 0 81 26 24.2991 DDIT4L 0 genome.wustl.edu 37 4 101108907 101108907 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 101108907 101108907 A G SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.509 p.L170P 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 117 0 0 95 9 8.65385 DDIT4L 0 genome.wustl.edu 37 4 101108927 101108927 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 101108927 101108927 A C SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known silent c.489 p.G163 0.773 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 111 0 0 102 9 8.10811 DDIT4L 0 genome.wustl.edu 37 4 101108948 101108948 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 101108948 101108948 A G SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known silent c.468 p.S156 0.001 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 114 0 0 96 8 7.69231 NFKB1 0 genome.wustl.edu 37 4 103500113 103500113 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103500113 103500113 T G SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known missense c.647 p.M216R 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 81 0 0 81 5 5.81395 NFKB1 0 genome.wustl.edu 37 4 103500181 103500181 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103500181 103500181 G A SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known missense c.715 p.A239T 0.996 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_Dor pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 69 0 0 44 14 24.1379 NFKB1 0 genome.wustl.edu 37 4 103501757 103501757 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103501757 103501757 G T SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known missense c.796 p.G266W 1.000 superfamily_Ig_E-set,smart_IPT,prints_NF_Rel_Dor pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 70 0 0 47 4 7.84314 NFKB1 0 genome.wustl.edu 37 4 103514652 103514652 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103514652 103514652 T C SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known silent c.1137 p.S379 0.940 superfamily_Ig_E-set pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 225 1 0.442478 185 17 8.41584 NFKB1 0 genome.wustl.edu 37 4 103527752 103527752 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103527752 103527752 T G SNP NFKB1 ENST00000226574 human ensembl 74_37 +1 known missense c.1852 p.S618A 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_RHD,pfam_Ankyrin_rpt,pfam_Death_domain,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like_dom,smart_IPT,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_Dor,prints_Ankyrin_rpt - no_errors NFKB1 HGNC ENSG00000109320 136 0 0 92 9 8.91089 SLC9B1 0 genome.wustl.edu 37 4 103827697 103827697 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103827697 103827697 A G SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known silent c.1191 p.I397 0.631 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 61 0 0 38 8 17.3913 SLC9B1 0 genome.wustl.edu 37 4 103870469 103870469 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103870469 103870469 T A SNP SLC9B1 ENST00000296422 human ensembl 74_37 -1 known silent c.327 p.G109 0.173 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors SLC9B1 HGNC ENSG00000164037 114 0 0 90 6 6.25 CENPE 0 genome.wustl.edu 37 4 104080340 104080340 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 104080340 104080340 A G SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.2428 p.S810P 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 121 0 0 81 7 7.95455 CENPE 0 genome.wustl.edu 37 4 104101599 104101599 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 104101599 104101599 T C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known missense c.1111 p.M371V 1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 106 0 0 62 6 8.82353 CENPE 0 genome.wustl.edu 37 4 104106977 104106977 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 104106977 104106977 T C SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.735 p.T245 0.988 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 140 0 0 87 8 8.42105 ZNF518B 0 genome.wustl.edu 37 4 10447359 10447359 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 10447359 10447359 A G SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.594 p.G198 0.607 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 173 0 0 151 13 7.92683 TACR3 0 genome.wustl.edu 37 4 104577457 104577457 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 104577457 104577457 A C SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.782 p.L261R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 148 0 0 116 11 8.66142 TET2 0 genome.wustl.edu 37 4 106155657 106155657 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 106155657 106155657 G A SNP TET2 ENST00000380013 human ensembl 74_37 +1 known silent c.558 p.E186 0.211 NULL NULL - no_errors TET2 HGNC ENSG00000168769 46 0 0 38 6 13.6364 TET2 0 genome.wustl.edu 37 4 106156631 106156631 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 106156631 106156631 A G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known missense c.1532 p.H511R 0.136 NULL NULL - no_errors TET2 HGNC ENSG00000168769 73 0 0 68 8 10.5263 RNF212 0 genome.wustl.edu 37 4 1067437 1067437 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1067437 1067437 G A SNP RNF212 ENST00000433731 human ensembl 74_37 -1 known missense c.524 p.A175V 0.037 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 56 0 0 28 17 37.7778 NPNT 0 genome.wustl.edu 37 4 106848532 106848532 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 106848532 106848532 G A SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.212 p.G71E 1.000 smart_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 55 0 0 45 7 13.4615 NPNT 0 genome.wustl.edu 37 4 106861286 106861286 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 106861286 106861286 T C SNP NPNT ENST00000379987 human ensembl 74_37 +1 known missense c.560 p.V187A 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 107 0 0 79 23 22.549 PAPSS1 0 genome.wustl.edu 37 4 108566127 108566127 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 108566127 108566127 C T SNP PAPSS1 ENST00000265174 human ensembl 74_37 -1 known missense c.1337 p.R446H 1.000 pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 80 0 0 77 18 18.9474 HADH 0 genome.wustl.edu 37 4 108954337 108954337 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 108954337 108954337 G A SNP HADH ENST00000403312 human ensembl 74_37 +1 known missense c.943 p.A315T 0.998 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,pfam_AlaDH/PNT_NAD(H)-bd,pfam_UDP-Glc/GDP-Man_DH_N,superfamily_6-PGluconate_DH_C-like - no_errors HADH HGNC ENSG00000138796 134 0 0 100 10 9.09091 SEC24B 0 genome.wustl.edu 37 4 110427546 110427546 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 110427546 110427546 A G SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known silent c.1551 p.P517 0.923 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 172 0 0 130 12 8.4507 CFI 0 genome.wustl.edu 37 4 110685814 110685814 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 110685814 110685814 T C SNP CFI ENST00000394634 human ensembl 74_37 -1 known missense c.361 p.T121A 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 87 0 0 70 9 11.3924 EGF 0 genome.wustl.edu 37 4 110925696 110925696 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 110925696 110925696 C A SNP EGF ENST00000265171 human ensembl 74_37 +1 known missense c.3209 p.P1070H 0.994 pirsf_Pro-epidermal_GF pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 163 0 0 111 11 9.01639 ENPEP 0 genome.wustl.edu 37 4 111470987 111470987 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 111470987 111470987 A T SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known nonsense c.2446 p.K816* 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 81 0 0 61 4 6.15385 ENPEP 0 genome.wustl.edu 37 4 111474605 111474605 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 111474605 111474605 T C SNP ENPEP ENST00000265162 human ensembl 74_37 +1 known missense c.2636 p.V879A 0.996 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 153 1 0.649351 118 9 7.08661 ALPK1 0 genome.wustl.edu 37 4 113353667 113353667 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 113353667 113353667 G A SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known silent c.2964 p.R988 0.508 superfamily_Kinase-like_dom pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 181 0 0 182 15 7.61421 ALPK1 0 genome.wustl.edu 37 4 113362087 113362087 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 113362087 113362087 A G SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known missense c.3553 p.N1185D 0.976 pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 126 0 0 102 8 7.27273 ANK2 0 genome.wustl.edu 37 4 114276808 114276808 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 114276808 114276808 A G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.7034 p.E2345G 0.218 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 90 0 0 68 5 6.84932 ANK2 0 genome.wustl.edu 37 4 114280116 114280116 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 114280116 114280116 A G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.10342 p.S3448G 0.999 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 67 0 0 50 5 9.09091 ANK2 0 genome.wustl.edu 37 4 114294255 114294255 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 114294255 114294255 A G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.11620 p.M3874V 0.988 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 145 0 0 106 13 10.9244 CAMK2D 0 genome.wustl.edu 37 4 114473243 114473243 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 114473243 114473243 T C SNP CAMK2D ENST00000454265 human ensembl 74_37 -1 known silent c.285 p.G95 0.258 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_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2D HGNC ENSG00000145349 108 0 0 71 7 8.97436 NDST4 0 genome.wustl.edu 37 4 115998016 115998016 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 115998016 115998016 T A SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known silent c.177 p.P59 0.002 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 97 0 0 70 5 6.66667 TRAM1L1 0 genome.wustl.edu 37 4 118005579 118005579 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 118005579 118005579 A G SNP TRAM1L1 ENST00000310754 human ensembl 74_37 -1 known missense c.971 p.V324A 0.001 smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC ENSG00000174599 219 0 0 203 15 6.88073 METTL14 0 genome.wustl.edu 37 4 119631199 119631199 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 119631199 119631199 A G SNP METTL14 ENST00000388822 human ensembl 74_37 +1 known silent c.1113 p.A371 0.965 pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 163 0 0 100 21 17.3554 METTL14 0 genome.wustl.edu 37 4 119631225 119631225 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 119631225 119631225 C T SNP METTL14 ENST00000388822 human ensembl 74_37 +1 known missense c.1139 p.A380V 0.020 pfscan_MT-A70-like pfam_MT-A70-like,pfscan_MT-A70-like - no_errors METTL14 HGNC ENSG00000145388 142 0 0 92 6 6.12245 SEC24D 0 genome.wustl.edu 37 4 119644689 119644689 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 119644689 119644689 A G SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known missense c.3083 p.I1028T 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 138 0 0 97 8 7.61905 SEC24D 0 genome.wustl.edu 37 4 119644736 119644736 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 119644736 119644736 G A SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known silent c.3036 p.Y1012 0.853 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 149 0 0 113 28 19.8582 SEC24D 0 genome.wustl.edu 37 4 119686061 119686061 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 119686061 119686061 A G SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known missense c.1195 p.Y399H 1.000 pfam_Znf_Sec23_Sec24 pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 124 1 0.8 75 6 7.40741 SYNPO2 0 genome.wustl.edu 37 4 119947952 119947952 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 119947952 119947952 C A SNP SYNPO2 ENST00000307142 human ensembl 74_37 +1 known missense c.428 p.A143D 0.057 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 63 0 0 66 6 8.33333 MYOZ2 0 genome.wustl.edu 37 4 120107215 120107215 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 120107215 120107215 T G SNP MYOZ2 ENST00000307128 human ensembl 74_37 +1 known missense c.655 p.F219V 1.000 pfam_Calsarcin-bd pfam_Calsarcin-bd - no_errors MYOZ2 HGNC ENSG00000172399 117 0 0 78 7 8.23529 USP53 0 genome.wustl.edu 37 4 120181691 120181691 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 120181691 120181691 C T SNP USP53 ENST00000274030 human ensembl 74_37 +1 known silent c.705 p.R235 0.910 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 87 0 0 54 4 6.89655 PRDM5 0 genome.wustl.edu 37 4 121719441 121719441 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 121719441 121719441 A T SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.1169 p.V390D 1.000 pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 46 0 0 37 5 11.9048 PRDM5 0 genome.wustl.edu 37 4 121742449 121742449 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 121742449 121742449 C G SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.352 p.E118Q 1.000 smart_SET_dom,pirsf_Znf_PRDM5,pfscan_SET_dom pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 143 0 0 87 13 13 NDNF 0 genome.wustl.edu 37 4 121957507 121957507 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 121957507 121957507 G A SNP NDNF ENST00000379692 human ensembl 74_37 -1 known missense c.1619 p.S540F 1.000 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 124 0 0 109 9 7.62712 KIAA1109 0 genome.wustl.edu 37 4 123107245 123107245 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123107245 123107245 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.413 p.V138A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 109 0 0 66 5 7.04225 KIAA1109 0 genome.wustl.edu 37 4 123109221 123109221 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123109221 123109221 T G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.799 p.Y267D 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 76 0 0 62 4 6.06061 KIAA1109 0 genome.wustl.edu 37 4 123184100 123184100 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123184100 123184100 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.6944 p.S2315N 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 69 0 0 59 6 9.23077 KIAA1109 0 genome.wustl.edu 37 4 123254921 123254921 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123254921 123254921 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.11603 p.D3868G 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 50 0 0 33 3 8.33333 KIAA1109 0 genome.wustl.edu 37 4 123257435 123257435 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123257435 123257435 T A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.11937 p.S3979R 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 87 0 0 55 6 9.83607 KIAA1109 0 genome.wustl.edu 37 4 123269784 123269784 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123269784 123269784 A T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.13192 p.T4398S 0.571 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 62 0 0 50 3 5.66038 ADAD1 0 genome.wustl.edu 37 4 123302219 123302219 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123302219 123302219 T A SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.245 p.I82K 1.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 125 1 0.793651 76 12 13.6364 NUDT6 0 genome.wustl.edu 37 4 123838694 123838694 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123838694 123838694 C T SNP NUDT6 ENST00000304430 human ensembl 74_37 -1 known missense c.404 p.R135K 1.000 superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 152 0 0 112 13 10.4 NUDT6 0 genome.wustl.edu 37 4 123843587 123843587 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123843587 123843587 C A SNP NUDT6 ENST00000304430 human ensembl 74_37 -1 known missense c.141 p.Q47H 0.140 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like - no_errors NUDT6 HGNC ENSG00000170917 32 0 0 27 4 12.9032 SPATA5 0 genome.wustl.edu 37 4 123844395 123844395 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123844395 123844395 C T SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.98 p.P33L 0.001 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 168 0 0 146 8 5.19481 SPATA5 0 genome.wustl.edu 37 4 123868422 123868422 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123868422 123868422 C T SNP SPATA5 ENST00000274008 human ensembl 74_37 +1 known missense c.1493 p.A498V 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors SPATA5 HGNC ENSG00000145375 27 0 0 32 2 5.88235 ANKRD50 0 genome.wustl.edu 37 4 125590911 125590911 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 125590911 125590911 C T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.3521 p.R1174Q 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 120 0 0 85 27 24.1071 ANKRD50 0 genome.wustl.edu 37 4 125591399 125591399 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 125591399 125591399 T C SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known silent c.3033 p.E1011 0.999 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 71 0 0 56 4 6.66667 ANKRD50 0 genome.wustl.edu 37 4 125591412 125591412 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 125591412 125591412 G T SNP ANKRD50 ENST00000504087 human ensembl 74_37 -1 known missense c.3020 p.A1007D 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 74 0 0 55 6 9.83607 FAT4 0 genome.wustl.edu 37 4 126239682 126239682 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 126239682 126239682 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.2116 p.S706G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 86 0 0 78 7 8.23529 FAT4 0 genome.wustl.edu 37 4 126241702 126241702 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 126241702 126241702 A T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4136 p.D1379V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 187 0 0 157 9 5.42169 FAT4 0 genome.wustl.edu 37 4 126371457 126371457 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 126371457 126371457 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.9286 p.A3096T 0.200 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 94 0 0 59 6 9.23077 FAT4 0 genome.wustl.edu 37 4 126373323 126373323 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 126373323 126373323 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.11152 p.G3718S 0.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 197 0 0 160 16 9.09091 FAT4 0 genome.wustl.edu 37 4 126411099 126411099 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 126411099 126411099 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13122 p.E4374D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 250 0 0 229 56 19.6491 FAT4 0 genome.wustl.edu 37 4 126412663 126412663 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 126412663 126412663 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14686 p.R4896C 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 71 0 0 53 18 25.3521 INTU 0 genome.wustl.edu 37 4 128584698 128584698 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 128584698 128584698 T C SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.931 p.Y311H 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 133 0 0 82 9 9.89011 INTU 0 genome.wustl.edu 37 4 128627710 128627710 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 128627710 128627710 A G SNP INTU ENST00000335251 human ensembl 74_37 +1 known silent c.1857 p.G619 0.994 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 172 0 0 141 12 7.84314 HSPA4L 0 genome.wustl.edu 37 4 128724795 128724795 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 128724795 128724795 T C SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known silent c.768 p.T256 0.996 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 111 0 0 68 5 6.84932 SCLT1 0 genome.wustl.edu 37 4 129812262 129812262 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 129812262 129812262 G A SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known silent c.1860 p.T620 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 123 1 0.806452 87 5 5.43478 SCLT1 0 genome.wustl.edu 37 4 129886438 129886438 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 129886438 129886438 T G SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known missense c.813 p.E271D 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 130 0 0 87 6 6.45161 SCLT1 0 genome.wustl.edu 37 4 129920859 129920859 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 129920859 129920859 G A SNP SCLT1 ENST00000281142 human ensembl 74_37 -1 known nonsense c.517 p.Q173* 0.996 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 102 0 0 51 13 20.3125 MAEA 0 genome.wustl.edu 37 4 1333015 1333015 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1333015 1333015 G A SNP MAEA ENST00000512289 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors MAEA HGNC ENSG00000090316 29 0 0 26 8 23.5294 PCDH10 0 genome.wustl.edu 37 4 134071888 134071888 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 134071888 134071888 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.593 p.R198H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 49 0 0 39 4 9.30233 PCDH10 0 genome.wustl.edu 37 4 134073029 134073029 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 134073029 134073029 A G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.1734 p.L578 0.818 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 61 0 0 58 4 6.45161 PCDH10 0 genome.wustl.edu 37 4 134073742 134073742 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 134073742 134073742 A G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2447 p.N816S 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 34 0 0 33 4 10.8108 UVSSA 0 genome.wustl.edu 37 4 1347004 1347004 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1347004 1347004 G A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.737 p.R246Q 0.001 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 38 0 0 45 6 11.7647 BOD1L1 0 genome.wustl.edu 37 4 13590398 13590398 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 13590398 13590398 T C SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.8228 p.K2743R 0.989 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 43 0 0 19 4 17.3913 BOD1L1 0 genome.wustl.edu 37 4 13603610 13603610 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 13603610 13603610 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known silent c.4914 p.I1638 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 260 1 0.383142 211 47 18.2171 PCDH18 0 genome.wustl.edu 37 4 138451511 138451511 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 138451511 138451511 C A SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.1732 p.G578W 0.067 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 224 0 0 212 16 7.01754 CRIPAK 0 genome.wustl.edu 37 4 1388760 1388760 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1388760 1388760 G A SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.461 p.R154Q 0.004 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 173 0 0 176 12 6.38298 CRIPAK 0 genome.wustl.edu 37 4 1389092 1389092 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1389092 1389092 C T SNP CRIPAK ENST00000324803 human ensembl 74_37 +1 known missense c.793 p.P265S 0.011 smart_Post-SET_dom smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 273 0 0 238 22 8.46154 SLC7A11 0 genome.wustl.edu 37 4 139103485 139103485 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 139103485 139103485 C T SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known missense c.1082 p.R361H 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 89 0 0 74 8 9.7561 NAA15 0 genome.wustl.edu 37 4 140265423 140265423 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 140265423 140265423 A T SNP NAA15 ENST00000296543 human ensembl 74_37 +1 known missense c.621 p.R207S 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 152 0 0 102 8 7.27273 MAML3 0 genome.wustl.edu 37 4 140641423 140641423 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 140641423 140641423 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.2471 p.R824Q 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 93 0 0 100 13 11.5044 MAML3 0 genome.wustl.edu 37 4 140811420 140811420 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 140811420 140811420 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known silent c.1170 p.T390 0.583 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 112 0 0 119 12 9.16031 MAML3 0 genome.wustl.edu 37 4 140811851 140811851 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 140811851 140811851 C A SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.739 p.G247C 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 134 1 0.740741 104 19 15.4472 CLGN 0 genome.wustl.edu 37 4 141310438 141310438 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 141310438 141310438 G A SNP CLGN ENST00000325617 human ensembl 74_37 -1 known silent c.1773 p.S591 0.989 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 118 0 0 69 7 9.21053 CLGN 0 genome.wustl.edu 37 4 141321662 141321662 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 141321662 141321662 T C SNP CLGN ENST00000325617 human ensembl 74_37 -1 known silent c.543 p.G181 0.998 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 85 0 0 54 6 10 RNF150 0 genome.wustl.edu 37 4 142053845 142053845 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 142053845 142053845 A G SNP RNF150 ENST00000515673 human ensembl 74_37 -1 known missense c.118 p.Y40H 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 59 0 0 33 15 31.25 INPP4B 0 genome.wustl.edu 37 4 143067143 143067143 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 143067143 143067143 C T SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known missense c.1570 p.V524M 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 146 0 0 108 13 10.7438 INPP4B 0 genome.wustl.edu 37 4 143181673 143181673 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 143181673 143181673 T G SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known silent c.660 p.G220 0.022 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 59 0 0 40 3 6.97674 USP38 0 genome.wustl.edu 37 4 144127279 144127279 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 144127279 144127279 A G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.1303 p.R435G 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 98 0 0 60 8 11.7647 GAB1 0 genome.wustl.edu 37 4 144380563 144380563 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 144380563 144380563 A G SNP GAB1 ENST00000262995 human ensembl 74_37 +1 known silent c.1701 p.K567 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 256 0 0 189 14 6.89655 SMARCA5 0 genome.wustl.edu 37 4 144468578 144468578 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 144468578 144468578 G A SNP SMARCA5 ENST00000283131 human ensembl 74_37 +1 known silent c.2694 p.E898 1.000 pfam_SLIDE,superfamily_Homeodomain-like pfam_SNF2_N,pfam_SLIDE,pfam_ISWI_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,superfamily_ISWI_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCA5 HGNC ENSG00000153147 113 0 0 80 7 8.04598 OTUD4 0 genome.wustl.edu 37 4 146059221 146059221 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 146059221 146059221 A G SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known silent c.2706 p.D902 0.977 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 81 0 0 45 3 6.25 OTUD4 0 genome.wustl.edu 37 4 146065564 146065564 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 146065564 146065564 G T SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.1445 p.A482D 0.985 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 179 0 0 131 39 22.9412 SMAD1 0 genome.wustl.edu 37 4 146468016 146468016 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 146468016 146468016 C T SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known silent c.937 p.L313 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 169 0 0 101 8 7.33945 ZNF827 0 genome.wustl.edu 37 4 146806922 146806922 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 146806922 146806922 T C SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.1655 p.D552G 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 85 0 0 81 6 6.89655 ARHGAP10 0 genome.wustl.edu 37 4 148993239 148993239 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 148993239 148993239 G A SNP ARHGAP10 ENST00000510076 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ARHGAP10 HGNC ENSG00000071205 76 0 0 68 8 10.5263 CPEB2 0 genome.wustl.edu 37 4 15018811 15018811 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 15018811 15018811 G A SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known splice_site c.2035-1 e4-1 1.000 - - - no_errors CPEB2 HGNC ENSG00000137449 75 0 0 55 5 8.33333 MAB21L2 0 genome.wustl.edu 37 4 151504543 151504543 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 151504543 151504543 G C SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known missense c.362 p.G121A 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 91 0 0 84 10 10.6383 SH3D19 0 genome.wustl.edu 37 4 152065098 152065098 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 152065098 152065098 G A SNP SH3D19 ENST00000304527 human ensembl 74_37 -1 known silent c.1416 p.I472 1.000 superfamily_SH3_domain,smart_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 97 0 0 75 7 8.53659 TIGD4 0 genome.wustl.edu 37 4 153690946 153690946 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 153690946 153690946 G T SNP TIGD4 ENST00000304337 human ensembl 74_37 -1 known missense c.1211 p.A404D 0.964 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD4 HGNC ENSG00000169989 105 0 0 91 12 11.6505 FHDC1 0 genome.wustl.edu 37 4 153896633 153896633 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 153896633 153896633 T C SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.2190 p.D730 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 29 0 0 37 7 15.9091 TRIM2 0 genome.wustl.edu 37 4 154216755 154216755 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 154216755 154216755 C T SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known silent c.1077 p.G359 0.996 pfam_Filamin/ABP280_repeat-like,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 36 0 0 35 8 18.6047 KIAA0922 0 genome.wustl.edu 37 4 154508908 154508908 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 154508908 154508908 T G SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known silent c.1497 p.G499 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 220 0 0 142 11 7.18954 TLR2 0 genome.wustl.edu 37 4 154624623 154624623 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 154624623 154624623 C T SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known silent c.564 p.S188 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 113 0 0 86 7 7.52688 TLR2 0 genome.wustl.edu 37 4 154625730 154625730 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 154625730 154625730 T C SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known silent c.1671 p.D557 0.938 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 120 0 0 95 12 11.215 DCHS2 0 genome.wustl.edu 37 4 155156833 155156833 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 155156833 155156833 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.7606 p.A2536T 0.000 NULL pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 56 0 0 42 13 23.6364 DCHS2 0 genome.wustl.edu 37 4 155157336 155157336 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 155157336 155157336 T A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.7103 p.D2368V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 116 0 0 88 10 10.2041 FGA 0 genome.wustl.edu 37 4 155509977 155509977 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 155509977 155509977 T C SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.332 p.E111G 0.394 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 292 1 0.341297 188 20 9.61538 FGA 0 genome.wustl.edu 37 4 155510666 155510666 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 155510666 155510666 G A SNP FGA ENST00000302053 human ensembl 74_37 -1 known missense c.103 p.R35C 0.996 NULL pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGA HGNC ENSG00000171560 146 1 0.680272 122 12 8.95522 FBXL5 0 genome.wustl.edu 37 4 15614035 15614035 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 15614035 15614035 A C SNP FBXL5 ENST00000341285 human ensembl 74_37 -1 known missense c.1853 p.V618G 0.411 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom,pfam_Leu-rich_rpt,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL5 HGNC ENSG00000118564 54 0 0 46 4 8 GUCY1A3 0 genome.wustl.edu 37 4 156625120 156625120 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 156625120 156625120 G A SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.292 p.A98T 0.988 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 182 0 0 124 9 6.76692 GUCY1A3 0 genome.wustl.edu 37 4 156629407 156629407 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 156629407 156629407 G T SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.337 p.D113Y 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 129 1 0.769231 96 7 6.79612 GUCY1A3 0 genome.wustl.edu 37 4 156632185 156632185 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 156632185 156632185 T A SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.868 p.F290I 1.000 pfam_Haem_no_assoc-bd pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 76 0 0 59 12 16.9014 GUCY1B3 0 genome.wustl.edu 37 4 156723547 156723547 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 156723547 156723547 G A SNP GUCY1B3 ENST00000264424 human ensembl 74_37 +1 known missense c.1229 p.R410H 1.000 superfamily_A/G_cyclase,smart_A/G_cyclase pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1B3 HGNC ENSG00000061918 92 0 0 58 21 26.5823 CTSO 0 genome.wustl.edu 37 4 156858514 156858514 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 156858514 156858514 C A SNP CTSO ENST00000433477 human ensembl 74_37 -1 known missense c.674 p.S225I 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSO HGNC ENSG00000256043 76 0 0 45 4 8.16327 FAM198B 0 genome.wustl.edu 37 4 159052070 159052070 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 159052070 159052070 T C SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.1244 p.Q415R 0.598 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 66 0 0 51 4 7.27273 PPID 0 genome.wustl.edu 37 4 159640370 159640370 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 159640370 159640370 A G SNP PPID ENST00000307720 human ensembl 74_37 -1 known missense c.295 p.Y99H 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 77 0 0 47 9 16.0714 FGFBP2 0 genome.wustl.edu 37 4 15964674 15964674 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 15964674 15964674 C A SNP FGFBP2 ENST00000259989 human ensembl 74_37 -1 known nonsense c.79 p.G27* 0.028 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP2 HGNC ENSG00000137441 78 0 0 70 7 9.09091 PROM1 0 genome.wustl.edu 37 4 15994012 15994012 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 15994012 15994012 A G SNP PROM1 ENST00000447510 human ensembl 74_37 -1 known silent c.1770 p.H590 0.102 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 87 0 0 74 6 7.5 RAPGEF2 0 genome.wustl.edu 37 4 160252876 160252876 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 160252876 160252876 C A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.1187 p.P396H 1.000 superfamily_Ras_GEF_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 151 0 0 91 32 26.0163 RAPGEF2 0 genome.wustl.edu 37 4 160264153 160264153 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 160264153 160264153 G A SNP RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known missense c.2458 p.A820T 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 48 0 0 25 11 30.5556 TAPT1 0 genome.wustl.edu 37 4 16188435 16188435 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 16188435 16188435 T C SNP TAPT1 ENST00000405303 human ensembl 74_37 -1 known missense c.815 p.K272R 1.000 pfam_Membrane_Tatp1/CMV_rcpt pfam_Membrane_Tatp1/CMV_rcpt - no_errors TAPT1 HGNC ENSG00000169762 128 0 0 67 7 9.45946 TKTL2 0 genome.wustl.edu 37 4 164393149 164393149 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 164393149 164393149 C T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known missense c.1738 p.V580I 0.907 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 95 0 0 60 24 28.5714 LDB2 0 genome.wustl.edu 37 4 16504355 16504355 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 16504355 16504355 C T SNP LDB2 ENST00000304523 human ensembl 74_37 -1 known missense c.1033 p.A345T 1.000 NULL NULL - no_errors LDB2 HGNC ENSG00000169744 206 0 0 167 47 21.9626 FAM53A 0 genome.wustl.edu 37 4 1656868 1656868 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1656868 1656868 C T SNP FAM53A ENST00000308132 human ensembl 74_37 -1 known missense c.719 p.S240N 0.744 NULL NULL - no_errors FAM53A HGNC ENSG00000174137 13 0 0 21 4 16 KLHL2 0 genome.wustl.edu 37 4 166159928 166159928 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 166159928 166159928 A G SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known splice_site c.260-2 e4-2 0.999 - - - no_errors KLHL2 HGNC ENSG00000109466 50 0 0 41 4 8.88889 KLHL2 0 genome.wustl.edu 37 4 166160009 166160009 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 166160009 166160009 T C SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.339 p.Y113 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 130 1 0.763359 103 10 8.84956 KLHL2 0 genome.wustl.edu 37 4 166232671 166232671 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 166232671 166232671 T A SNP KLHL2 ENST00000226725 human ensembl 74_37 +1 known silent c.1293 p.A431 0.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL2 HGNC ENSG00000109466 152 0 0 113 17 13.0769 TLL1 0 genome.wustl.edu 37 4 166913959 166913959 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 166913959 166913959 G T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.284 p.G95V 1.000 pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 92 0 0 78 5 6.0241 TLL1 0 genome.wustl.edu 37 4 166924671 166924671 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 166924671 166924671 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.761 p.R254K 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 63 0 0 56 9 13.8462 SPOCK3 0 genome.wustl.edu 37 4 167655903 167655903 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 167655903 167655903 T C SNP SPOCK3 ENST00000507137 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors SPOCK3 HGNC ENSG00000196104 40 0 0 29 4 12.1212 SPOCK3 0 genome.wustl.edu 37 4 167656082 167656082 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 167656082 167656082 A G SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.1301 p.V434A 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 66 0 0 41 7 14.5833 SPOCK3 0 genome.wustl.edu 37 4 167675702 167675702 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 167675702 167675702 T A SNP SPOCK3 ENST00000357154 human ensembl 74_37 -1 known missense c.897 p.L299F 1.000 pfam_SPARC/Testican_Ca-bd-dom pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK3 HGNC ENSG00000196104 110 0 0 75 10 11.7647 ANXA10 0 genome.wustl.edu 37 4 169099117 169099117 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 169099117 169099117 A G SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known missense c.611 p.Y204C 1.000 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 86 0 0 57 8 12.3077 DDX60 0 genome.wustl.edu 37 4 169176911 169176911 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 169176911 169176911 C T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.3508 p.A1170T 0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 99 0 0 60 7 10.4478 DDX60 0 genome.wustl.edu 37 4 169176992 169176992 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 169176992 169176992 C T SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.3427 p.A1143T 0.455 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 80 0 0 43 15 25.8621 DDX60L 0 genome.wustl.edu 37 4 169294923 169294923 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 169294923 169294923 A G SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.4670 p.V1557A 0.998 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 204 0 0 129 14 9.79021 DDX60L 0 genome.wustl.edu 37 4 169322010 169322010 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 169322010 169322010 A G SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known missense c.3458 p.V1153A 0.000 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60L HGNC ENSG00000181381 49 0 0 53 3 5.35714 PALLD 0 genome.wustl.edu 37 4 169433123 169433123 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 169433123 169433123 G A SNP PALLD ENST00000261509 human ensembl 74_37 +1 known silent c.468 p.T156 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PALLD HGNC ENSG00000129116 69 0 0 54 16 22.8571 CLCN3 0 genome.wustl.edu 37 4 170613350 170613350 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 170613350 170613350 C A SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known missense c.815 p.A272D 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 248 0 0 156 20 11.3636 C4orf27 0 genome.wustl.edu 37 4 170663209 170663209 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 170663209 170663209 T C SNP C4orf27 ENST00000393381 human ensembl 74_37 -1 known missense c.547 p.N183D 0.005 pfam_DUF2228_C2H2_APLF-like pfam_DUF2228_C2H2_APLF-like - no_errors C4orf27 HGNC ENSG00000056050 88 0 0 55 7 11.2903 AADAT 0 genome.wustl.edu 37 4 171010811 171010811 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 171010811 171010811 T C SNP AADAT ENST00000509167 human ensembl 74_37 -1 known missense c.31 p.S11G 0.899 superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors AADAT HGNC ENSG00000109576 198 0 0 162 16 8.98876 DCAF16 0 genome.wustl.edu 37 4 17805232 17805232 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 17805232 17805232 C T SNP DCAF16 ENST00000382247 human ensembl 74_37 -1 known missense c.533 p.C178Y 1.000 NULL NULL - no_errors DCAF16 HGNC ENSG00000163257 107 0 0 84 12 12.5 DCAF16 0 genome.wustl.edu 37 4 17805389 17805389 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 17805389 17805389 T C SNP DCAF16 ENST00000382247 human ensembl 74_37 -1 known missense c.376 p.K126E 0.951 NULL NULL - no_errors DCAF16 HGNC ENSG00000163257 218 0 0 178 19 9.64467 TENM3 0 genome.wustl.edu 37 4 183575044 183575044 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 183575044 183575044 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.1109 p.N370S 0.940 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 100 0 0 82 8 8.88889 TRAPPC11 0 genome.wustl.edu 37 4 184585014 184585014 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 184585014 184585014 C T SNP TRAPPC11 ENST00000504526 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TRAPPC11 HGNC ENSG00000168538 108 0 0 67 19 22.093 IRF2 0 genome.wustl.edu 37 4 185309962 185309962 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 185309962 185309962 C T SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.1000 p.V334I 1.000 pirsf_Interferon_reg_fac-1/2 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 94 0 0 69 16 18.8235 IRF2 0 genome.wustl.edu 37 4 185329430 185329430 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 185329430 185329430 C T SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known splice_site c.412-1 e5-1 1.000 - - - no_errors IRF2 HGNC ENSG00000168310 75 0 0 67 6 8.21918 PRIMPOL 0 genome.wustl.edu 37 4 185593326 185593326 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 185593326 185593326 G T SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known splice_site c.557-1 e5-1 1.000 - - - no_errors PRIMPOL HGNC ENSG00000164306 161 0 0 111 10 8.26446 HELT 0 genome.wustl.edu 37 4 185941859 185941859 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 185941859 185941859 A G SNP HELT ENST00000338875 human ensembl 74_37 +1 known missense c.917 p.N306S 1.000 NULL pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom - no_errors HELT HGNC ENSG00000187821 46 0 0 49 3 5.76923 SLC25A4 0 genome.wustl.edu 37 4 186065961 186065961 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 186065961 186065961 A G SNP SLC25A4 ENST00000281456 human ensembl 74_37 +1 known missense c.155 p.K52R 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A4 HGNC ENSG00000151729 87 0 0 74 8 9.7561 CCDC110 0 genome.wustl.edu 37 4 186381022 186381022 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 186381022 186381022 T A SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.719 p.D240V 0.994 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 115 0 0 105 7 6.25 CCDC110 0 genome.wustl.edu 37 4 186382236 186382236 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 186382236 186382236 A T SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known missense c.315 p.N105K 0.735 NULL superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 205 0 0 125 12 8.75912 SORBS2 0 genome.wustl.edu 37 4 186533060 186533060 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 186533060 186533060 T C SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known silent c.2958 p.Q986 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 71 0 0 70 5 6.66667 SORBS2 0 genome.wustl.edu 37 4 186544479 186544479 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 186544479 186544479 C T SNP SORBS2 ENST00000284776 human ensembl 74_37 -1 known missense c.2092 p.A698T 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 248 0 0 191 14 6.82927 KLKB1 0 genome.wustl.edu 37 4 187177156 187177156 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187177156 187177156 A C SNP KLKB1 ENST00000264690 human ensembl 74_37 +1 known missense c.1500 p.K500N 0.818 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors KLKB1 HGNC ENSG00000164344 59 0 0 39 7 15.2174 FAT1 0 genome.wustl.edu 37 4 187521118 187521118 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187521118 187521118 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.12037 p.A4013T 0.964 pfscan_EG-like_dom pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,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,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 85 0 0 64 15 18.9873 FAT1 0 genome.wustl.edu 37 4 187524831 187524831 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187524831 187524831 T C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.10849 p.T3617A 0.892 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,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,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 69 0 0 51 6 10.5263 FAT1 0 genome.wustl.edu 37 4 187540078 187540078 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187540078 187540078 A C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.7662 p.L2554 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 68 0 0 57 4 6.55738 FAT1 0 genome.wustl.edu 37 4 187541346 187541346 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187541346 187541346 A C SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.6394 p.L2132V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 133 0 0 127 7 5.22388 FAT1 0 genome.wustl.edu 37 4 187549799 187549799 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187549799 187549799 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known missense c.4442 p.V1481A 0.009 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 90 0 0 70 5 6.66667 FAT1 0 genome.wustl.edu 37 4 187549801 187549801 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187549801 187549801 A G SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.4440 p.A1480 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 91 0 0 69 5 6.75676 FAT1 0 genome.wustl.edu 37 4 187627796 187627796 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 187627796 187627796 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.3186 p.D1062 0.925 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 202 0 0 180 42 18.9189 ZFP42 0 genome.wustl.edu 37 4 188923990 188923990 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 188923990 188923990 A G SNP ZFP42 ENST00000326866 human ensembl 74_37 +1 known missense c.29 p.K10R 0.003 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP42 HGNC ENSG00000179059 63 0 0 46 6 11.5385 WHSC1 0 genome.wustl.edu 37 4 1902809 1902809 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1902809 1902809 T G SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.428 p.I143S 0.999 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 51 0 0 47 3 6 SLIT2 0 genome.wustl.edu 37 4 20521008 20521008 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 20521008 20521008 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.1062 p.V354 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 72 0 0 37 11 22.9167 SLIT2 0 genome.wustl.edu 37 4 20525792 20525792 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 20525792 20525792 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.1430 p.R477H 1.000 pfam_Cys-rich_flank_reg_C,smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 103 0 0 92 11 10.6796 PACRGL 0 genome.wustl.edu 37 4 20711339 20711339 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 20711339 20711339 G A SNP PACRGL ENST00000506951 human ensembl 74_37 +1 known missense c.241 p.V81M 1.000 NULL NULL - no_errors PACRGL HGNC ENSG00000163138 153 0 0 92 5 5.15464 KCNIP4 0 genome.wustl.edu 37 4 20734355 20734355 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 20734355 20734355 A T SNP KCNIP4 ENST00000382150 human ensembl 74_37 -1 known nonsense c.528 p.Y176* 0.991 pfam_SPARC/Testican_Ca-bd-dom pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP4 HGNC ENSG00000185774 88 0 0 57 4 6.55738 GPR125 0 genome.wustl.edu 37 4 22463404 22463404 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 22463404 22463404 A G SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.357 p.S119 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp 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 147 0 0 85 10 10.5263 MIR573 0 genome.wustl.edu 37 4 24521905 24521905 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 24521905 24521905 A G SNP MIR573 ENST00000384964 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors MIR573 HGNC ENSG00000207697 216 0 0 139 11 7.33333 DHX15 0 genome.wustl.edu 37 4 24550530 24550530 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 24550530 24550530 C T SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.1196 p.R399H 0.999 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 76 0 0 47 6 11.3208 DHX15 0 genome.wustl.edu 37 4 24556472 24556472 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 24556472 24556472 A G SNP DHX15 ENST00000336812 human ensembl 74_37 -1 known missense c.956 p.V319A 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 123 0 0 108 14 11.4754 SEPSECS 0 genome.wustl.edu 37 4 25146678 25146678 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 25146678 25146678 T C SNP SEPSECS ENST00000382103 human ensembl 74_37 -1 known missense c.882 p.I294M 1.000 pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase,tigrfam_Sec-tRNA_Se_transferase pfam_SLA/LP_auto_ag,superfamily_PyrdxlP-dep_Trfase,tigrfam_Sec-tRNA_Se_transferase - no_errors SEPSECS HGNC ENSG00000109618 93 0 0 64 12 15.7895 STIM2 0 genome.wustl.edu 37 4 27010471 27010471 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 27010471 27010471 G A SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known missense c.1621 p.A541T 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 81 0 0 67 10 12.987 SH3BP2 0 genome.wustl.edu 37 4 2834759 2834759 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 2834759 2834759 T C SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known missense c.1702 p.Y568H 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 92 0 0 107 13 10.8333 ADD1 0 genome.wustl.edu 37 4 2886334 2886334 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 2886334 2886334 G A SNP ADD1 ENST00000264758 human ensembl 74_37 +1 known missense c.451 p.A151T 1.000 pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD1 HGNC ENSG00000087274 199 0 0 148 18 10.8434 GRK4 0 genome.wustl.edu 37 4 3037113 3037113 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 3037113 3037113 T C SNP GRK4 ENST00000398052 human ensembl 74_37 +1 known silent c.1270 p.L424 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 91 0 0 96 13 11.9266 PCDH7 0 genome.wustl.edu 37 4 30725086 30725086 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 30725086 30725086 A G SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.2042 p.N681S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 122 0 0 123 15 10.8696 HTT 0 genome.wustl.edu 37 4 3148604 3148604 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 3148604 3148604 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.3224 p.S1075L 0.997 superfamily_ARM-type_fold pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 564 0 0 489 50 9.27644 RGS12 0 genome.wustl.edu 37 4 3318001 3318001 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 3318001 3318001 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.104 p.T35M 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 86 0 0 75 9 10.7143 RGS12 0 genome.wustl.edu 37 4 3318443 3318443 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 3318443 3318443 A G SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known silent c.546 p.G182 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 84 0 0 66 5 7.04225 LRPAP1 0 genome.wustl.edu 37 4 3526647 3526647 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 3526647 3526647 T C SNP LRPAP1 ENST00000500728 human ensembl 74_37 -1 known missense c.336 p.I112M 0.000 pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 - no_errors LRPAP1 HGNC ENSG00000163956 434 0 0 359 22 5.77428 ARAP2 0 genome.wustl.edu 37 4 36109300 36109300 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 36109300 36109300 T C SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.4172 p.Y1391C 1.000 pfam_Ras-assoc,pfscan_Ras-assoc pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 134 0 0 115 8 6.50407 ARAP2 0 genome.wustl.edu 37 4 36149198 36149198 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 36149198 36149198 T A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.3171 p.R1057S 0.770 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 80 0 0 47 4 7.84314 ARAP2 0 genome.wustl.edu 37 4 36161111 36161111 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 36161111 36161111 A G SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.2459 p.V820A 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 104 0 0 83 7 7.77778 ADRA2C 0 genome.wustl.edu 37 4 3769612 3769612 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 3769612 3769612 T C SNP ADRA2C ENST00000330055 human ensembl 74_37 +1 known missense c.1279 p.Y427H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2C HGNC ENSG00000184160 45 0 0 38 4 9.52381 TBC1D1 0 genome.wustl.edu 37 4 38138948 38138948 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 38138948 38138948 G T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.3499 p.G1167C 0.163 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 25 0 0 22 4 15.3846 TLR10 0 genome.wustl.edu 37 4 38776589 38776589 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 38776589 38776589 C T SNP TLR10 ENST00000308973 human ensembl 74_37 -1 known missense c.623 p.R208H 0.000 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 129 0 0 61 10 14.0845 TLR1 0 genome.wustl.edu 37 4 38798650 38798650 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 38798650 38798650 G A SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known silent c.1803 p.C601 0.102 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 93 0 0 85 9 9.57447 TLR1 0 genome.wustl.edu 37 4 38798749 38798749 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 38798749 38798749 C A SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.1704 p.K568N 0.998 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 128 0 0 143 9 5.92105 KLHL5 0 genome.wustl.edu 37 4 39064525 39064525 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 39064525 39064525 G A SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known missense c.391 p.A131T 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 142 1 0.699301 87 37 29.8387 KLHL5 0 genome.wustl.edu 37 4 39083781 39083781 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 39083781 39083781 T C SNP KLHL5 ENST00000359687 human ensembl 74_37 +1 known splice_site c.1038+2 e4+2 1.000 - - - no_errors KLHL5 HGNC ENSG00000109790 161 0 0 136 14 9.33333 RFC1 0 genome.wustl.edu 37 4 39297264 39297264 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 39297264 39297264 A G SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.2927 p.V976A 0.999 pfam_DNA_replication_fac_RFC1_C,superfamily_DNA_pol3_clamp-load_cplx_C,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 90 0 0 68 9 11.6883 PDS5A 0 genome.wustl.edu 37 4 39843614 39843614 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 39843614 39843614 A C SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.3611 p.I1204S 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 99 0 0 64 8 11.1111 PDS5A 0 genome.wustl.edu 37 4 39863914 39863914 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 39863914 39863914 T C SNP PDS5A ENST00000303538 human ensembl 74_37 -1 known missense c.3011 p.Y1004C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5A HGNC ENSG00000121892 15 0 0 6 2 25 N4BP2 0 genome.wustl.edu 37 4 40123127 40123127 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 40123127 40123127 A T SNP N4BP2 ENST00000261435 human ensembl 74_37 +1 known missense c.3396 p.L1132F 0.947 NULL pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C - no_errors N4BP2 HGNC ENSG00000078177 114 0 0 72 6 7.69231 TMEM33 0 genome.wustl.edu 37 4 41951356 41951356 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 41951356 41951356 A G SNP TMEM33 ENST00000325094 human ensembl 74_37 +1 known missense c.568 p.R190G 1.000 pfam_UPF0121 pfam_UPF0121 - no_errors TMEM33 HGNC ENSG00000109133 132 0 0 91 6 6.18557 TMEM33 0 genome.wustl.edu 37 4 41951372 41951372 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 41951372 41951372 G A SNP TMEM33 ENST00000325094 human ensembl 74_37 +1 known missense c.584 p.R195Q 1.000 pfam_UPF0121 pfam_UPF0121 - no_errors TMEM33 HGNC ENSG00000109133 131 0 0 84 6 6.66667 SLC30A9 0 genome.wustl.edu 37 4 42065102 42065102 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 42065102 42065102 A T SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known silent c.996 p.G332 0.999 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 141 0 0 107 12 10.084 SLC30A9 0 genome.wustl.edu 37 4 42069122 42069122 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 42069122 42069122 A G SNP SLC30A9 ENST00000264451 human ensembl 74_37 +1 known missense c.1165 p.S389G 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,superfamily_DNA-bd_dom_put,tigrfam_Cation_efflux - no_errors SLC30A9 HGNC ENSG00000014824 195 0 0 157 10 5.98802 ABCA11P 0 genome.wustl.edu 37 4 420896 420896 + RNA SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 420896 420896 A C SNP ABCA11P ENST00000507854 human ensembl 74_37 -1 known rna NULL NULL 0.245 - - - no_errors ABCA11P HGNC ENSG00000251595 38 0 0 26 5 16.129 ATP8A1 0 genome.wustl.edu 37 4 42416673 42416673 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 42416673 42416673 C T SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.3368 p.R1123H 1.000 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 195 0 0 150 8 5.06329 ATP8A1 0 genome.wustl.edu 37 4 42588453 42588453 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 42588453 42588453 A G SNP ATP8A1 ENST00000381668 human ensembl 74_37 -1 known missense c.635 p.L212S 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A1 HGNC ENSG00000124406 89 0 0 60 4 6.25 GRXCR1 0 genome.wustl.edu 37 4 42895339 42895339 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 42895339 42895339 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.56 p.R19Q 1.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 162 0 0 121 14 10.3704 GRXCR1 0 genome.wustl.edu 37 4 42964999 42964999 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 42964999 42964999 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.475 p.V159I 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 215 0 0 162 21 11.4754 ZNF721 0 genome.wustl.edu 37 4 437167 437167 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 437167 437167 G A SNP ZNF721 ENST00000511833 human ensembl 74_37 -1 known silent c.1089 p.C363 0.017 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 104 1 0.952381 55 9 14.0625 KCTD8 0 genome.wustl.edu 37 4 44450344 44450344 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 44450344 44450344 G A SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.197 p.P66L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 25 0 0 22 7 24.1379 GUF1 0 genome.wustl.edu 37 4 44692771 44692771 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 44692771 44692771 C G SNP GUF1 ENST00000281543 human ensembl 74_37 +1 known missense c.1373 p.A458G 1.000 tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 86 0 0 66 5 7.04225 GABRA2 0 genome.wustl.edu 37 4 46252449 46252449 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 46252449 46252449 A G SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.1247 p.F416S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 270 0 0 216 14 6.08696 GABRA2 0 genome.wustl.edu 37 4 46305564 46305564 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 46305564 46305564 T G SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.604 p.T202P 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 117 0 0 83 6 6.74157 GABRA2 0 genome.wustl.edu 37 4 46334631 46334631 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 46334631 46334631 C T SNP GABRA2 ENST00000356504 human ensembl 74_37 -1 known splice_site c.255+1 e3+1 1.000 - - - no_errors GABRA2 HGNC ENSG00000151834 136 0 0 74 14 15.9091 GABRA4 0 genome.wustl.edu 37 4 46930536 46930536 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 46930536 46930536 A C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known silent c.1371 p.T457 0.082 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 116 0 0 82 5 5.74713 GABRA4 0 genome.wustl.edu 37 4 46995427 46995427 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 46995427 46995427 C A SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.15 p.K5N 1.000 NULL pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 79 0 0 72 6 7.69231 ATP10D 0 genome.wustl.edu 37 4 47571042 47571042 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 47571042 47571042 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.3042 p.K1014N 0.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 68 0 0 69 8 10.3896 CORIN 0 genome.wustl.edu 37 4 47663845 47663845 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 47663845 47663845 A G SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.1618 p.C540R 1.000 pirsf_Peptidase_S1A_corin,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 73 0 0 53 9 14.5161 CORIN 0 genome.wustl.edu 37 4 47695094 47695094 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 47695094 47695094 C T SNP CORIN ENST00000273857 human ensembl 74_37 -1 known missense c.806 p.C269Y 1.000 pirsf_Peptidase_S1A_corin,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pirsf_Peptidase_S1A_corin,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Trypsin-like_Pept_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors CORIN HGNC ENSG00000145244 78 0 0 52 18 25.7143 CNGA1 0 genome.wustl.edu 37 4 47939244 47939244 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 47939244 47939244 A G SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known missense c.1474 p.F492L 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 170 0 0 113 8 6.61157 CNGA1 0 genome.wustl.edu 37 4 47939482 47939482 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 47939482 47939482 G A SNP CNGA1 ENST00000402813 human ensembl 74_37 -1 known silent c.1236 p.G412 0.969 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 142 0 0 113 6 5.04202 TEC 0 genome.wustl.edu 37 4 48147163 48147163 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 48147163 48147163 C T SNP TEC ENST00000381501 human ensembl 74_37 -1 known missense c.1403 p.S468N 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 180 0 0 148 21 12.426 FRYL 0 genome.wustl.edu 37 4 48542963 48542963 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 48542963 48542963 T C SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.5702 p.D1901G 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 126 0 0 83 10 10.7527 FRYL 0 genome.wustl.edu 37 4 48566115 48566115 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 48566115 48566115 T C SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.3446 p.H1149R 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 87 0 0 61 4 6.15385 FRYL 0 genome.wustl.edu 37 4 48584736 48584736 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 48584736 48584736 C T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1764 p.M588I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 107 0 0 81 5 5.81395 FRYL 0 genome.wustl.edu 37 4 48588650 48588650 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 48588650 48588650 T A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.1736 p.E579V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 97 0 0 51 4 7.27273 OCIAD1 0 genome.wustl.edu 37 4 48859353 48859353 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 48859353 48859353 C A SNP OCIAD1 ENST00000264312 human ensembl 74_37 +1 known missense c.671 p.P224H 1.000 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 89 0 0 49 7 12.5 LRRC66 0 genome.wustl.edu 37 4 52861789 52861789 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 52861789 52861789 C A SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1399 p.A467S 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 88 0 0 91 13 12.5 SPATA18 0 genome.wustl.edu 37 4 52945916 52945916 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 52945916 52945916 A C SNP SPATA18 ENST00000295213 human ensembl 74_37 +1 known missense c.1186 p.I396L 1.000 NULL NULL - no_errors SPATA18 HGNC ENSG00000163071 229 1 0.434783 159 14 8.09249 SCFD2 0 genome.wustl.edu 37 4 54231548 54231548 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 54231548 54231548 A G SNP SCFD2 ENST00000401642 human ensembl 74_37 -1 known silent c.561 p.L187 0.007 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC ENSG00000184178 31 0 0 42 4 8.69565 LNX1 0 genome.wustl.edu 37 4 54440034 54440034 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 54440034 54440034 G A SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known nonsense c.136 p.Q46* 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 25 0 0 24 5 17.2414 KIT 0 genome.wustl.edu 37 4 55565802 55565802 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 55565802 55565802 A T SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.626 p.K209I 0.514 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 77 0 0 46 4 8 KIT 0 genome.wustl.edu 37 4 55592157 55592157 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 55592157 55592157 A G SNP KIT ENST00000288135 human ensembl 74_37 +1 known missense c.1481 p.Y494C 0.325 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 87 0 0 64 4 5.88235 KDR 0 genome.wustl.edu 37 4 55964961 55964961 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 55964961 55964961 T A SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.2276 p.E759V 0.996 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 84 0 0 73 6 7.59494 KDR 0 genome.wustl.edu 37 4 55972863 55972863 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 55972863 55972863 T C SNP KDR ENST00000263923 human ensembl 74_37 -1 known silent c.1527 p.G509 0.860 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 77 0 0 33 5 13.1579 EVC2 0 genome.wustl.edu 37 4 5624510 5624510 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 5624510 5624510 C T SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.2255 p.R752Q 0.999 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 42 0 0 52 14 21.2121 EXOC1 0 genome.wustl.edu 37 4 56730485 56730485 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 56730485 56730485 G A SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known nonsense c.348 p.W116* 1.000 NULL pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 75 0 0 43 10 18.8679 PPAT 0 genome.wustl.edu 37 4 57269249 57269249 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 57269249 57269249 T C SNP PPAT ENST00000264220 human ensembl 74_37 -1 known silent c.618 p.L206 0.597 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 81 0 0 54 9 14.2857 ARL9 0 genome.wustl.edu 37 4 57384867 57384867 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 57384867 57384867 T A SNP ARL9 ENST00000360096 human ensembl 74_37 +1 known missense c.40 p.S14T 0.992 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors ARL9 HGNC ENSG00000196503 133 0 0 126 12 8.69565 ARL9 0 genome.wustl.edu 37 4 57389893 57389893 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 57389893 57389893 A T SNP ARL9 ENST00000360096 human ensembl 74_37 +1 known missense c.223 p.I75F 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors ARL9 HGNC ENSG00000196503 68 0 0 40 5 11.1111 EVC 0 genome.wustl.edu 37 4 5754593 5754593 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 5754593 5754593 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.1129 p.H377Y 0.539 NULL NULL - no_errors EVC HGNC ENSG00000072840 78 0 0 67 18 21.1765 POLR2B 0 genome.wustl.edu 37 4 57897134 57897134 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 57897134 57897134 C T SNP POLR2B ENST00000314595 human ensembl 74_37 +1 known missense c.3505 p.P1169S 1.000 pfam_RNA_pol_Rpb2_7 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 124 0 0 63 13 17.1053 JAKMIP1 0 genome.wustl.edu 37 4 6064122 6064122 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 6064122 6064122 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1477 p.R493W 0.995 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 79 0 0 74 5 6.32911 JAKMIP1 0 genome.wustl.edu 37 4 6083425 6083425 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 6083425 6083425 G A SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known missense c.1012 p.R338W 0.947 NULL NULL - no_errors JAKMIP1 HGNC ENSG00000152969 107 0 0 66 16 19.5122 WFS1 0 genome.wustl.edu 37 4 6303480 6303480 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 6303480 6303480 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1958 p.R653H 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 192 0 0 193 16 7.6555 WFS1 0 genome.wustl.edu 37 4 6303751 6303751 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 6303751 6303751 C T SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known silent c.2229 p.S743 0.602 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 24 0 0 17 5 22.7273 PPP2R2C 0 genome.wustl.edu 37 4 6380273 6380273 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 6380273 6380273 G A SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known silent c.195 p.G65 0.972 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 128 1 0.775194 96 20 17.2414 EPHA5 0 genome.wustl.edu 37 4 66535289 66535289 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 66535289 66535289 T G SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.172 p.S58R 1.000 pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 22 0 0 15 7 31.8182 KIAA0232 0 genome.wustl.edu 37 4 6826332 6826332 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 6826332 6826332 G A SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known missense c.152 p.G51D 1.000 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 134 0 0 104 12 10.3448 UBA6 0 genome.wustl.edu 37 4 68489854 68489854 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68489854 68489854 T C SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known missense c.2830 p.T944A 1.000 pfam_Ub-activating_enz_e1_C,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 86 0 0 65 4 5.7971 UBA6 0 genome.wustl.edu 37 4 68490772 68490772 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68490772 68490772 C A SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known missense c.2652 p.K884N 0.989 pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 78 0 0 70 6 7.89474 GNRHR 0 genome.wustl.edu 37 4 68610386 68610386 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68610386 68610386 G T SNP GNRHR ENST00000226413 human ensembl 74_37 -1 known missense c.642 p.F214L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors GNRHR HGNC ENSG00000109163 131 0 0 92 25 21.3675 GNRHR 0 genome.wustl.edu 37 4 68610404 68610404 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68610404 68610404 T G SNP GNRHR ENST00000226413 human ensembl 74_37 -1 known missense c.624 p.Q208H 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors GNRHR HGNC ENSG00000109163 136 0 0 93 28 23.1405 GNRHR 0 genome.wustl.edu 37 4 68619626 68619626 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68619626 68619626 A T SNP GNRHR ENST00000226413 human ensembl 74_37 -1 known missense c.428 p.I143N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors GNRHR HGNC ENSG00000109163 52 0 0 44 8 15.3846 KIAA0232 0 genome.wustl.edu 37 4 6863906 6863906 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 6863906 6863906 T C SNP KIAA0232 ENST00000307659 human ensembl 74_37 +1 known silent c.1797 p.G599 0.044 NULL NULL - no_errors KIAA0232 HGNC ENSG00000170871 109 1 0.909091 113 9 7.37705 YTHDC1 0 genome.wustl.edu 37 4 69203419 69203419 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 69203419 69203419 A G SNP YTHDC1 ENST00000344157 human ensembl 74_37 -1 known silent c.330 p.D110 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 119 0 0 80 6 6.97674 UGT2A3 0 genome.wustl.edu 37 4 69811057 69811057 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 69811057 69811057 T G SNP UGT2A3 ENST00000251566 human ensembl 74_37 -1 known silent c.831 p.G277 0.009 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 80 0 0 80 6 6.97674 TBC1D14 0 genome.wustl.edu 37 4 7011616 7011616 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 7011616 7011616 C T SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known missense c.1459 p.H487Y 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 213 0 0 152 9 5.59006 TADA2B 0 genome.wustl.edu 37 4 7056629 7056629 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 7056629 7056629 A G SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.1111 p.T371A 1.000 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 116 0 0 80 7 8.04598 SULT1B1 0 genome.wustl.edu 37 4 70592890 70592890 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 70592890 70592890 G T SNP SULT1B1 ENST00000310613 human ensembl 74_37 -1 known missense c.807 p.F269L 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 89 0 0 57 4 6.55738 GRPEL1 0 genome.wustl.edu 37 4 7064145 7064145 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 7064145 7064145 T C SNP GRPEL1 ENST00000264954 human ensembl 74_37 -1 known missense c.274 p.S92G 1.000 pfam_GrpE,prints_GrpE pfam_GrpE,superfamily_GrpE_head,prints_GrpE - no_errors GRPEL1 HGNC ENSG00000109519 183 0 0 141 12 7.84314 CABS1 0 genome.wustl.edu 37 4 71201519 71201519 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 71201519 71201519 G A SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known missense c.763 p.A255T 0.000 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 86 0 0 56 8 12.5 ENAM 0 genome.wustl.edu 37 4 71508727 71508727 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 71508727 71508727 A G SNP ENAM ENST00000396073 human ensembl 74_37 +1 known silent c.1584 p.P528 0.979 NULL NULL - no_errors ENAM HGNC ENSG00000132464 136 0 0 105 24 18.6047 RUFY3 0 genome.wustl.edu 37 4 71634299 71634299 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 71634299 71634299 C T SNP RUFY3 ENST00000417478 human ensembl 74_37 +1 known missense c.797 p.A266V 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 193 0 0 151 14 8.48485 SLC4A4 0 genome.wustl.edu 37 4 72363287 72363287 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 72363287 72363287 G A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known missense c.2044 p.V682I 0.870 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 71 0 0 43 16 27.1186 SLC4A4 0 genome.wustl.edu 37 4 72429508 72429508 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 72429508 72429508 A G SNP SLC4A4 ENST00000264485 human ensembl 74_37 +1 known splice_site c.3100-2 e23-2 1.000 - - - no_errors SLC4A4 HGNC ENSG00000080493 193 1 0.515464 143 16 10.0629 NPFFR2 0 genome.wustl.edu 37 4 72994607 72994607 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 72994607 72994607 C A SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.605 p.P202H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 154 1 0.645161 120 9 6.97674 PCGF3 0 genome.wustl.edu 37 4 731294 731294 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 731294 731294 A G SNP PCGF3 ENST00000362003 human ensembl 74_37 +1 known silent c.246 p.V82 0.801 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF3 HGNC ENSG00000185619 125 1 0.793651 94 11 10.4762 ANKRD17 0 genome.wustl.edu 37 4 73957601 73957601 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 73957601 73957601 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.5744 p.G1915D 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 89 0 0 79 11 12.2222 ANKRD17 0 genome.wustl.edu 37 4 73957799 73957799 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 73957799 73957799 G A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.5546 p.A1849V 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 175 0 0 149 16 9.69697 ANKRD17 0 genome.wustl.edu 37 4 74005740 74005740 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 74005740 74005740 T A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.2593 p.I865F 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 234 0 0 189 20 9.56938 ANKRD17 0 genome.wustl.edu 37 4 74007530 74007530 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 74007530 74007530 T C SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.2260 p.M754V 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 57 0 0 36 4 10 ALB 0 genome.wustl.edu 37 4 74275073 74275073 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 74275073 74275073 T A SNP ALB ENST00000295897 human ensembl 74_37 +1 known missense c.484 p.Y162N 0.127 pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin/AFP,prints_ALB/AFP/VDB - no_errors ALB HGNC ENSG00000163631 96 0 0 81 5 5.81395 PSAPL1 0 genome.wustl.edu 37 4 7435600 7435600 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 7435600 7435600 C A SNP PSAPL1 ENST00000319098 human ensembl 74_37 -1 known missense c.1007 p.C336F 0.084 pirsf_Saposin_chordata,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapA,pfam_SapB_1,pfam_SapB_2,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAPL1 HGNC ENSG00000178597 93 0 0 98 7 6.66667 AFM 0 genome.wustl.edu 37 4 74357801 74357801 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 74357801 74357801 G A SNP AFM ENST00000226355 human ensembl 74_37 +1 known silent c.1056 p.A352 0.652 pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 70 0 0 33 13 28.2609 THAP6 0 genome.wustl.edu 37 4 76452318 76452318 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 76452318 76452318 G T SNP THAP6 ENST00000311638 human ensembl 74_37 +1 known missense c.563 p.R188M 1.000 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP6 HGNC ENSG00000174796 89 0 0 69 6 8 G3BP2 0 genome.wustl.edu 37 4 76582913 76582913 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 76582913 76582913 T A SNP G3BP2 ENST00000359707 human ensembl 74_37 -1 known missense c.179 p.D60V 1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP2 HGNC ENSG00000138757 147 0 0 121 12 9.02256 USO1 0 genome.wustl.edu 37 4 76731585 76731585 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 76731585 76731585 G A SNP USO1 ENST00000538159 human ensembl 74_37 +1 known missense c.2503 p.A835T 0.909 superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 39 0 0 23 4 14.8148 USO1 0 genome.wustl.edu 37 4 76734383 76734383 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 76734383 76734383 T A SNP USO1 ENST00000538159 human ensembl 74_37 +1 known missense c.2851 p.S951T 0.999 pfam_Uso1_p115_C,superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE - no_errors USO1 HGNC ENSG00000138768 105 0 0 73 10 12.0482 ART3 0 genome.wustl.edu 37 4 77003397 77003397 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 77003397 77003397 A G SNP ART3 ENST00000355810 human ensembl 74_37 +1 known missense c.490 p.T164A 0.000 pfam_ART pfam_ART,prints_ART - no_errors ART3 HGNC ENSG00000156219 52 0 0 40 4 9.09091 NUP54 0 genome.wustl.edu 37 4 77057529 77057529 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 77057529 77057529 G A SNP NUP54 ENST00000264883 human ensembl 74_37 -1 known missense c.332 p.P111L 0.996 NULL NULL - no_errors NUP54 HGNC ENSG00000138750 143 0 0 92 18 16.3636 SHROOM3 0 genome.wustl.edu 37 4 77677703 77677703 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 77677703 77677703 C T SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.4811 p.S1604F 0.004 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 74 0 0 51 4 7.27273 SOWAHB 0 genome.wustl.edu 37 4 77817430 77817430 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 77817430 77817430 G A SNP SOWAHB ENST00000334306 human ensembl 74_37 -1 known missense c.1573 p.R525C 0.877 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHB HGNC ENSG00000186212 59 0 0 41 11 21.1538 AFAP1 0 genome.wustl.edu 37 4 7788020 7788020 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 7788020 7788020 A G SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known silent c.1431 p.V477 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 139 1 0.714286 92 10 9.80392 SEPT11 0 genome.wustl.edu 37 4 77926846 77926846 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 77926846 77926846 C T SNP SEPT11 ENST00000541121 human ensembl 74_37 +1 known missense c.265 p.R89W 0.996 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT11 HGNC ENSG00000138758 126 0 0 89 8 8.24742 AFAP1 0 genome.wustl.edu 37 4 7795484 7795484 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 7795484 7795484 G A SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1336 p.P446S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 173 0 0 146 12 7.59494 AFAP1 0 genome.wustl.edu 37 4 7840356 7840356 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 7840356 7840356 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known silent c.621 p.P207 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 141 0 0 102 21 17.0732 FRAS1 0 genome.wustl.edu 37 4 79367983 79367983 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 79367983 79367983 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.5959 p.D1987N 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 35 0 0 18 3 14.2857 FRAS1 0 genome.wustl.edu 37 4 79461776 79461776 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 79461776 79461776 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.11537 p.A3846V 0.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 39 0 0 44 3 6.38298 BMP3 0 genome.wustl.edu 37 4 81967100 81967100 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 81967100 81967100 C T SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known silent c.525 p.N175 1.000 pfam_TGF-b_N,pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 217 0 0 120 37 23.5669 BMP3 0 genome.wustl.edu 37 4 81967414 81967414 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 81967414 81967414 C T SNP BMP3 ENST00000282701 human ensembl 74_37 +1 known missense c.839 p.A280V 0.961 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors BMP3 HGNC ENSG00000152785 92 0 0 86 13 13.1313 PRKG2 0 genome.wustl.edu 37 4 82096046 82096046 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 82096046 82096046 T G SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known missense c.529 p.I177L 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 169 0 0 132 12 8.33333 SH3TC1 0 genome.wustl.edu 37 4 8229166 8229166 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 8229166 8229166 A T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.1745 p.Y582F 1.000 smart_TPR_repeat superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 109 0 0 106 7 6.19469 SH3TC1 0 genome.wustl.edu 37 4 8229515 8229515 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 8229515 8229515 G A SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known silent c.2094 p.S698 0.000 smart_TPR_repeat superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 46 0 0 30 9 23.0769 HTRA3 0 genome.wustl.edu 37 4 8271808 8271808 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 8271808 8271808 G A SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known missense c.113 p.R38H 0.999 smart_IGFBP-like pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 9 0 0 9 3 25 HTRA3 0 genome.wustl.edu 37 4 8307843 8307843 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 8307843 8307843 G A SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known missense c.1342 p.A448T 0.007 superfamily_PDZ pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 34 0 0 24 8 25 ENOPH1 0 genome.wustl.edu 37 4 83378162 83378162 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 83378162 83378162 A G SNP ENOPH1 ENST00000273920 human ensembl 74_37 +1 known missense c.617 p.N206S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Enolase-ppase_E1,tigrfam_HAD-SF_hydro_IA - no_errors ENOPH1 HGNC ENSG00000145293 104 0 0 72 10 12.1951 MRPS18C 0 genome.wustl.edu 37 4 84379541 84379541 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 84379541 84379541 T C SNP MRPS18C ENST00000295491 human ensembl 74_37 +1 known missense c.193 p.C65R 1.000 superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18 pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18 - no_errors MRPS18C HGNC ENSG00000163319 88 0 0 64 7 9.85915 NKX6-1 0 genome.wustl.edu 37 4 85414655 85414655 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 85414655 85414655 G A SNP NKX6-1 ENST00000295886 human ensembl 74_37 -1 known silent c.891 p.A297 0.991 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 92 0 0 72 7 8.86076 WDFY3 0 genome.wustl.edu 37 4 85612938 85612938 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 85612938 85612938 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.9050 p.E3017G 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 40 0 0 40 7 14.8936 WDFY3 0 genome.wustl.edu 37 4 85657439 85657439 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 85657439 85657439 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.6799 p.P2267S 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 79 0 0 75 7 8.53659 WDFY3 0 genome.wustl.edu 37 4 85658471 85658471 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 85658471 85658471 A T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.6623 p.I2208K 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 84 0 0 63 9 12.5 WDFY3 0 genome.wustl.edu 37 4 85687073 85687073 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 85687073 85687073 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.5078 p.V1693A 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 120 0 0 108 12 10 WDFY3 0 genome.wustl.edu 37 4 85707196 85707196 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 85707196 85707196 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.3998 p.S1333F 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 92 0 0 75 9 10.7143 WDFY3 0 genome.wustl.edu 37 4 85771148 85771148 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 85771148 85771148 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.211 p.T71A 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 140 0 0 106 6 5.35714 ARHGAP24 0 genome.wustl.edu 37 4 86916261 86916261 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 86916261 86916261 G A SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known missense c.1454 p.G485D 0.999 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 106 0 0 84 8 8.69565 ARHGAP24 0 genome.wustl.edu 37 4 86916682 86916682 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 86916682 86916682 T C SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known silent c.1875 p.S625 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 93 0 0 103 9 8.03571 PTPN13 0 genome.wustl.edu 37 4 87694086 87694086 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 87694086 87694086 A G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.5339 p.E1780G 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,superfamily_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 77 0 0 47 6 11.3208 C4orf36 0 genome.wustl.edu 37 4 87809323 87809323 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 87809323 87809323 C T SNP C4orf36 ENST00000295898 human ensembl 74_37 -1 known silent c.171 p.Q57 0.000 NULL NULL - no_errors C4orf36 HGNC ENSG00000163633 79 0 0 80 8 9.09091 AFF1 0 genome.wustl.edu 37 4 87967930 87967930 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 87967930 87967930 G T SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.243 p.K81N 0.002 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 294 0 0 251 20 7.38007 AFF1 0 genome.wustl.edu 37 4 88055677 88055677 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 88055677 88055677 A G SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known silent c.3366 p.V1122 0.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 334 0 0 286 18 5.92105 SPARCL1 0 genome.wustl.edu 37 4 88394950 88394950 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 88394950 88394950 T C SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known missense c.1972 p.I658V 1.000 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 149 0 0 112 10 8.19672 DSPP 0 genome.wustl.edu 37 4 88535299 88535299 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 88535299 88535299 T C SNP DSPP ENST00000282478 human ensembl 74_37 +1 known silent c.1485 p.S495 0.897 NULL NULL - no_errors DSPP HGNC ENSG00000152591 62 0 0 46 13 22.0339 IBSP 0 genome.wustl.edu 37 4 88731774 88731774 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 88731774 88731774 G T SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.263 p.G88V 0.994 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 107 0 0 81 6 6.89655 IBSP 0 genome.wustl.edu 37 4 88732877 88732877 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 88732877 88732877 G A SNP IBSP ENST00000226284 human ensembl 74_37 +1 known missense c.769 p.V257I 0.000 pfam_BSP_II pfam_BSP_II - no_errors IBSP HGNC ENSG00000029559 38 0 0 41 4 8.88889 HERC5 0 genome.wustl.edu 37 4 89384765 89384765 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 89384765 89384765 A G SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known silent c.771 p.L257 0.963 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 117 0 0 102 9 8.10811 HERC3 0 genome.wustl.edu 37 4 89577147 89577147 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 89577147 89577147 T C SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known missense c.1030 p.Y344H 0.964 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 74 0 0 55 4 6.77966 FAM13A 0 genome.wustl.edu 37 4 89668866 89668866 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 89668866 89668866 C T SNP FAM13A ENST00000264344 human ensembl 74_37 -1 known silent c.2298 p.K766 0.959 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13A HGNC ENSG00000138640 277 0 0 230 20 8 TIGD2 0 genome.wustl.edu 37 4 90034768 90034768 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 90034768 90034768 G A SNP TIGD2 ENST00000317005 human ensembl 74_37 +1 known missense c.643 p.A215T 0.999 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors TIGD2 HGNC ENSG00000180346 94 0 0 64 20 23.8095 TMEM175 0 genome.wustl.edu 37 4 945436 945436 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 945436 945436 C T SNP TMEM175 ENST00000504180 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TMEM175 HGNC ENSG00000127419 89 0 0 72 21 22.5806 GRID2 0 genome.wustl.edu 37 4 94690472 94690472 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 94690472 94690472 C T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known silent c.2472 p.G824 0.120 pfam_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 107 0 0 94 12 11.3208 TMEM175 0 genome.wustl.edu 37 4 949616 949616 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 949616 949616 C T SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known silent c.780 p.R260 0.842 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 51 0 0 39 7 15.2174 SMARCAD1 0 genome.wustl.edu 37 4 95162126 95162126 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 95162126 95162126 A T SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.674 p.D225V 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 61 0 0 35 4 10.2564 SMARCAD1 0 genome.wustl.edu 37 4 95174135 95174135 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 95174135 95174135 C T SNP SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known missense c.1258 p.P420S 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 169 0 0 145 13 8.22785 BMPR1B 0 genome.wustl.edu 37 4 96025677 96025677 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 96025677 96025677 C T SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known silent c.192 p.C64 1.000 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 88 0 0 44 9 16.9811 BMPR1B 0 genome.wustl.edu 37 4 96035907 96035907 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 96035907 96035907 T C SNP BMPR1B ENST00000440890 human ensembl 74_37 +1 known silent c.270 p.D90 1.000 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors BMPR1B HGNC ENSG00000138696 281 0 0 178 55 23.6052 PDHA2 0 genome.wustl.edu 37 4 96761865 96761865 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 96761865 96761865 T C SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known silent c.564 p.C188 0.963 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 88 0 0 73 9 10.9756 SLC26A1 0 genome.wustl.edu 37 4 985234 985234 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 985234 985234 C A SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.258 p.Q86H 1.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 106 0 0 82 9 9.89011 IDUA 0 genome.wustl.edu 37 4 996113 996113 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 996113 996113 C T SNP IDUA ENST00000453894 human ensembl 74_37 +1 known silent c.1095 p.Y365 0.002 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 27 0 0 24 3 11.1111 IDUA 0 genome.wustl.edu 37 4 996128 996128 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 996128 996128 C T SNP IDUA ENST00000453894 human ensembl 74_37 +1 known silent c.1110 p.N370 0.995 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 31 0 0 30 3 9.09091 METAP1 0 genome.wustl.edu 37 4 99969899 99969899 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 99969899 99969899 G A SNP METAP1 ENST00000296411 human ensembl 74_37 +1 known missense c.803 p.R268Q 1.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1 - no_errors METAP1 HGNC ENSG00000164024 163 0 0 117 35 23.0263 SLCO4C1 0 genome.wustl.edu 37 5 101606335 101606335 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 101606335 101606335 G A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known silent c.795 p.L265 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 91 0 0 57 18 24 SLCO4C1 0 genome.wustl.edu 37 5 101627089 101627089 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 101627089 101627089 G A SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known nonsense c.577 p.Q193* 0.995 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 92 0 0 47 6 11.3208 SLCO6A1 0 genome.wustl.edu 37 5 101774410 101774410 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 101774410 101774410 T C SNP SLCO6A1 ENST00000379807 human ensembl 74_37 -1 known missense c.1187 p.Y396C 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO6A1 HGNC ENSG00000205359 117 0 0 66 34 34 PPIP5K2 0 genome.wustl.edu 37 5 102509634 102509634 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 102509634 102509634 A G SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known silent c.2487 p.V829 0.998 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 126 0 0 97 8 7.61905 ROPN1L 0 genome.wustl.edu 37 5 10464976 10464976 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 10464976 10464976 G A SNP ROPN1L ENST00000274134 human ensembl 74_37 +1 known missense c.610 p.G204S 0.888 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1L HGNC ENSG00000145491 156 0 0 91 29 24.1667 EFNA5 0 genome.wustl.edu 37 5 106763092 106763092 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 106763092 106763092 C T SNP EFNA5 ENST00000333274 human ensembl 74_37 -1 known missense c.244 p.V82M 1.000 pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 185 0 0 143 14 8.9172 FER 0 genome.wustl.edu 37 5 108290576 108290576 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 108290576 108290576 T C SNP FER ENST00000281092 human ensembl 74_37 +1 known silent c.1476 p.Y492 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 164 0 0 104 12 10.3448 FER 0 genome.wustl.edu 37 5 108523190 108523190 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 108523190 108523190 A G SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.2383 p.K795E 0.999 pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 111 0 0 88 7 7.36842 PJA2 0 genome.wustl.edu 37 5 108698724 108698724 + Splice_Site SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 108698724 108698724 C A SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known splice_site c.1470-1 e5-1 1.000 - - - no_errors PJA2 HGNC ENSG00000198961 165 1 0.60241 143 11 7.14286 PJA2 0 genome.wustl.edu 37 5 108717314 108717314 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 108717314 108717314 G T SNP PJA2 ENST00000361189 human ensembl 74_37 -1 known missense c.122 p.A41D 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA2 HGNC ENSG00000198961 101 0 0 78 5 6.0241 MAN2A1 0 genome.wustl.edu 37 5 109049437 109049437 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 109049437 109049437 T C SNP MAN2A1 ENST00000261483 human ensembl 74_37 +1 known missense c.352 p.F118L 0.993 superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 139 0 0 101 14 12.1739 CTNND2 0 genome.wustl.edu 37 5 10992687 10992687 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 10992687 10992687 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.3187 p.R1063C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 71 0 0 70 9 11.3924 WDR36 0 genome.wustl.edu 37 5 110428101 110428101 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 110428101 110428101 G T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.115 p.G39C 0.000 NULL pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 93 0 0 109 12 9.91736 CAMK4 0 genome.wustl.edu 37 5 110712562 110712562 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 110712562 110712562 A G SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known missense c.308 p.K103R 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 CAMK4 HGNC ENSG00000152495 157 0 0 103 14 11.9658 CAMK4 0 genome.wustl.edu 37 5 110730432 110730432 + Nonstop_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 110730432 110730432 T C SNP CAMK4 ENST00000514007 human ensembl 74_37 +1 known nonstop c.328 p.*110R 1.000 NULL pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors CAMK4 HGNC ENSG00000152495 113 0 0 78 5 6.0241 EPB41L4A 0 genome.wustl.edu 37 5 111500719 111500719 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 111500719 111500719 T C SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.2029 p.I677V 0.787 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 73 0 0 40 4 9.09091 EPB41L4A 0 genome.wustl.edu 37 5 111600664 111600664 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 111600664 111600664 A C SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known silent c.483 p.S161 0.984 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 202 0 0 143 8 5.29801 APC 0 genome.wustl.edu 37 5 112178940 112178940 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 112178940 112178940 A T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.7649 p.E2550V 1.000 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 138 0 0 109 11 9.16667 SRP19 0 genome.wustl.edu 37 5 112200164 112200164 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 112200164 112200164 A G SNP SRP19 ENST00000505459 human ensembl 74_37 +1 known missense c.128 p.N43S 1.000 pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 - no_errors SRP19 HGNC ENSG00000153037 137 0 0 87 15 14.7059 MCC 0 genome.wustl.edu 37 5 112406914 112406914 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 112406914 112406914 T C SNP MCC ENST00000302475 human ensembl 74_37 -1 known missense c.1232 p.K411R 1.000 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 169 0 0 127 13 9.28571 CTNND2 0 genome.wustl.edu 37 5 11411702 11411702 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 11411702 11411702 T G SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.385 p.R129 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 90 0 0 54 16 22.8571 TRIM36 0 genome.wustl.edu 37 5 114462533 114462533 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 114462533 114462533 A G SNP TRIM36 ENST00000282369 human ensembl 74_37 -1 known silent c.1854 p.H618 0.963 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM36 HGNC ENSG00000152503 68 0 0 55 3 5.17241 PGGT1B 0 genome.wustl.edu 37 5 114548274 114548274 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 114548274 114548274 A G SNP PGGT1B ENST00000419445 human ensembl 74_37 -1 known missense c.959 p.L320S 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 70 0 0 55 7 11.2903 SEMA6A 0 genome.wustl.edu 37 5 115782800 115782800 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 115782800 115782800 C T SNP SEMA6A ENST00000257414 human ensembl 74_37 -1 known missense c.2653 p.V885M 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6A HGNC ENSG00000092421 240 0 0 223 17 7.08333 DMXL1 0 genome.wustl.edu 37 5 118513830 118513830 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 118513830 118513830 G A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.7026 p.E2342 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 DMXL1 HGNC ENSG00000172869 152 0 0 118 7 5.6 FAM170A 0 genome.wustl.edu 37 5 118970053 118970053 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 118970053 118970053 C T SNP FAM170A ENST00000515256 human ensembl 74_37 +1 known missense c.610 p.P204S 0.001 NULL NULL - no_errors FAM170A HGNC ENSG00000164334 91 0 0 105 6 5.40541 PRR16 0 genome.wustl.edu 37 5 120022012 120022012 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 120022012 120022012 C G SNP PRR16 ENST00000407149 human ensembl 74_37 +1 known missense c.523 p.P175A 0.990 NULL NULL - no_errors PRR16 HGNC ENSG00000184838 80 0 0 62 4 6.06061 LOX 0 genome.wustl.edu 37 5 121409723 121409723 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 121409723 121409723 A G SNP LOX ENST00000231004 human ensembl 74_37 -1 known silent c.1020 p.C340 0.995 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOX HGNC ENSG00000113083 264 1 0.377358 248 23 8.48708 SNCAIP 0 genome.wustl.edu 37 5 121767674 121767674 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 121767674 121767674 T A SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known nonsense c.1334 p.L445* 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 52 0 0 46 4 8 SNCAIP 0 genome.wustl.edu 37 5 121786643 121786643 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 121786643 121786643 C T SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2242 p.P748S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 56 0 0 39 8 17.0213 SNCAIP 0 genome.wustl.edu 37 5 121786917 121786917 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 121786917 121786917 C T SNP SNCAIP ENST00000379533 human ensembl 74_37 +1 known missense c.2516 p.A839V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 56 0 0 55 3 5.17241 CSNK1G3 0 genome.wustl.edu 37 5 122926221 122926221 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 122926221 122926221 A T SNP CSNK1G3 ENST00000360683 human ensembl 74_37 +1 known missense c.959 p.D320V 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,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 CSNK1G3 HGNC ENSG00000151292 216 0 0 104 10 8.77193 ZNF608 0 genome.wustl.edu 37 5 123982525 123982525 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 123982525 123982525 C A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.3552 p.Q1184H 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 215 0 0 162 15 8.47458 ZNF608 0 genome.wustl.edu 37 5 123984764 123984764 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 123984764 123984764 G A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.1313 p.A438V 0.997 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 65 0 0 50 13 20.6349 ZNF608 0 genome.wustl.edu 37 5 124080438 124080438 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 124080438 124080438 C T SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.245 p.G82D 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 80 0 0 76 6 7.31707 ZNF608 0 genome.wustl.edu 37 5 124080611 124080611 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 124080611 124080611 A G SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known silent c.72 p.D24 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 102 0 0 82 8 8.88889 GRAMD3 0 genome.wustl.edu 37 5 125805413 125805413 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 125805413 125805413 A G SNP GRAMD3 ENST00000542322 human ensembl 74_37 +1 known missense c.272 p.N91S 0.778 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC ENSG00000155324 233 0 0 168 17 9.18919 MARCH3 0 genome.wustl.edu 37 5 126206470 126206470 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 126206470 126206470 T C SNP MARCH3 ENST00000308660 human ensembl 74_37 -1 known missense c.617 p.Y206C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH3 HGNC ENSG00000173926 42 0 0 41 4 8.88889 MARCH3 0 genome.wustl.edu 37 5 126250640 126250640 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 126250640 126250640 T C SNP MARCH3 ENST00000308660 human ensembl 74_37 -1 known silent c.375 p.K125 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH3 HGNC ENSG00000173926 64 0 0 58 6 9.375 MEGF10 0 genome.wustl.edu 37 5 126783362 126783362 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 126783362 126783362 A T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known missense c.2842 p.M948L 0.998 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 71 0 0 60 8 11.7647 SLC12A2 0 genome.wustl.edu 37 5 127520070 127520070 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 127520070 127520070 T C SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known silent c.3312 p.F1104 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 174 0 0 114 8 6.55738 SLC12A2 0 genome.wustl.edu 37 5 127520484 127520484 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 127520484 127520484 T C SNP SLC12A2 ENST00000262461 human ensembl 74_37 +1 known missense c.3439 p.Y1147H 0.990 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A2 HGNC ENSG00000064651 267 0 0 162 17 9.49721 FBN2 0 genome.wustl.edu 37 5 127645675 127645675 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 127645675 127645675 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.5200 p.D1734Y 1.000 pirsf_FBN,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 109 1 0.909091 82 6 6.81818 FBN2 0 genome.wustl.edu 37 5 127686696 127686696 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 127686696 127686696 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known silent c.2676 p.D892 1.000 pirsf_FBN,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 100 0 0 76 5 6.17284 FBN2 0 genome.wustl.edu 37 5 127704962 127704962 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 127704962 127704962 C T SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.2161 p.G721S 0.996 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 97 0 0 83 14 14.433 SLC27A6 0 genome.wustl.edu 37 5 128320892 128320892 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 128320892 128320892 A G SNP SLC27A6 ENST00000262462 human ensembl 74_37 +1 known missense c.548 p.K183R 0.992 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A6 HGNC ENSG00000113396 58 0 0 54 3 5.26316 ADAMTS19 0 genome.wustl.edu 37 5 129001264 129001264 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 129001264 129001264 G A SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2480 p.S827N 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 28 0 0 23 4 14.8148 CHSY3 0 genome.wustl.edu 37 5 129243849 129243849 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 129243849 129243849 T C SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known silent c.882 p.I294 0.010 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 59 0 0 47 7 12.963 FNIP1 0 genome.wustl.edu 37 5 131042175 131042175 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 131042175 131042175 A G SNP FNIP1 ENST00000510461 human ensembl 74_37 -1 known silent c.843 p.C281 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 82 0 0 67 6 8.21918 FNIP1 0 genome.wustl.edu 37 5 131055060 131055060 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 131055060 131055060 G A SNP FNIP1 ENST00000510461 human ensembl 74_37 -1 known silent c.405 p.G135 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 68 0 0 49 3 5.76923 ACSL6 0 genome.wustl.edu 37 5 131323899 131323899 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 131323899 131323899 C T SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.673 p.V225M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 238 0 0 233 13 5.28455 AFF4 0 genome.wustl.edu 37 5 132232641 132232641 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 132232641 132232641 T C SNP AFF4 ENST00000265343 human ensembl 74_37 -1 known missense c.1681 p.T561A 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF4 HGNC ENSG00000072364 180 0 0 166 13 7.26257 HSPA4 0 genome.wustl.edu 37 5 132412488 132412488 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 132412488 132412488 A T SNP HSPA4 ENST00000304858 human ensembl 74_37 +1 known missense c.806 p.E269V 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 100 0 0 71 8 10.1266 SEC24A 0 genome.wustl.edu 37 5 133997109 133997109 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 133997109 133997109 C A SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.398 p.P133Q 0.013 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 107 1 0.925926 112 7 5.88235 DDX46 0 genome.wustl.edu 37 5 134130617 134130617 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 134130617 134130617 G T SNP DDX46 ENST00000452510 human ensembl 74_37 +1 known missense c.1704 p.E568D 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX46 HGNC ENSG00000145833 201 0 0 181 14 7.17949 CATSPER3 0 genome.wustl.edu 37 5 134303734 134303734 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 134303734 134303734 T C SNP CATSPER3 ENST00000282611 human ensembl 74_37 +1 known missense c.53 p.V18A 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 67 0 0 58 5 7.93651 H2AFY 0 genome.wustl.edu 37 5 134681658 134681658 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 134681658 134681658 C T SNP H2AFY ENST00000511689 human ensembl 74_37 -1 known missense c.778 p.A260T 1.000 pfam_Macro_dom,smart_Macro_dom,pirsf_Core_histone_macro-H2A,pfscan_Macro_dom pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 83 0 0 58 12 17.1429 NEUROG1 0 genome.wustl.edu 37 5 134871139 134871139 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 134871139 134871139 C T SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.242 p.R81H 0.057 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 9 0 0 5 4 44.4444 SLC25A48 0 genome.wustl.edu 37 5 135207269 135207269 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 135207269 135207269 G A SNP SLC25A48 ENST00000420621 human ensembl 74_37 +1 known missense c.541 p.A181T 0.954 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A48 HGNC ENSG00000145832 116 0 0 123 16 11.5108 DNAH5 0 genome.wustl.edu 37 5 13735943 13735943 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 13735943 13735943 C A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.11554 p.D3852Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 127 0 0 93 30 24.3902 NME5 0 genome.wustl.edu 37 5 137454523 137454523 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137454523 137454523 T C SNP NME5 ENST00000265191 human ensembl 74_37 -1 known missense c.539 p.K180R 1.000 pfam_Dpy-30_motif,pirsf_NDK_H5 pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase - no_errors NME5 HGNC ENSG00000112981 78 0 0 37 8 17.7778 BRD8 0 genome.wustl.edu 37 5 137492899 137492899 + Nonstop_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137492899 137492899 A G SNP BRD8 ENST00000230901 human ensembl 74_37 -1 known nonstop c.2854 p.*952R 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 139 0 0 114 10 8.06452 BRD8 0 genome.wustl.edu 37 5 137500695 137500695 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137500695 137500695 A G SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.1439 p.V480A 0.995 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 154 0 0 136 13 8.72483 DNAH5 0 genome.wustl.edu 37 5 13759025 13759025 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 13759025 13759025 T C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10349 p.E3450G 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 171 0 0 155 9 5.4878 GFRA3 0 genome.wustl.edu 37 5 137593531 137593531 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137593531 137593531 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.582 p.H194 0.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 37 0 0 39 9 18.75 CDC25C 0 genome.wustl.edu 37 5 137665314 137665314 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137665314 137665314 C T SNP CDC25C ENST00000323760 human ensembl 74_37 -1 known missense c.217 p.D73N 1.000 NULL pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25C HGNC ENSG00000158402 147 0 0 121 13 9.70149 FAM53C 0 genome.wustl.edu 37 5 137677511 137677511 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137677511 137677511 A G SNP FAM53C ENST00000239906 human ensembl 74_37 +1 known missense c.92 p.H31R 1.000 NULL NULL - no_errors FAM53C HGNC ENSG00000120709 174 1 0.571429 108 21 16.2791 KDM3B 0 genome.wustl.edu 37 5 137722193 137722193 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137722193 137722193 A G SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known silent c.1263 p.A421 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 87 0 0 75 5 6.25 ETF1 0 genome.wustl.edu 37 5 137844390 137844390 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137844390 137844390 G A SNP ETF1 ENST00000360541 human ensembl 74_37 -1 known missense c.1199 p.S400F 1.000 pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 292 0 0 212 31 12.7572 SIL1 0 genome.wustl.edu 37 5 138282992 138282992 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 138282992 138282992 T C SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known silent c.1200 p.T400 0.005 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 46 0 0 48 6 11.1111 MATR3 0 genome.wustl.edu 37 5 138658651 138658651 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 138658651 138658651 A T SNP MATR3 ENST00000361059 human ensembl 74_37 +1 known nonsense c.2143 p.K715* 1.000 NULL smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors MATR3 HGNC ENSG00000015479 73 0 0 65 7 9.72222 SLC23A1 0 genome.wustl.edu 37 5 138718265 138718265 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 138718265 138718265 C T SNP SLC23A1 ENST00000353963 human ensembl 74_37 -1 known silent c.66 p.P22 0.088 NULL pfam_Xant/urac/vitC - no_errors SLC23A1 HGNC ENSG00000170482 65 0 0 53 17 24.2857 DNAH5 0 genome.wustl.edu 37 5 13919401 13919401 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 13919401 13919401 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.859 p.L287 0.730 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 266 0 0 193 27 12.2727 SLC4A9 0 genome.wustl.edu 37 5 139742516 139742516 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 139742516 139742516 G A SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.899 p.R300H 0.998 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 148 0 0 117 24 17.0213 ANKHD1 0 genome.wustl.edu 37 5 139884538 139884538 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 139884538 139884538 A G SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.3137 p.D1046G 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ENSG00000131503 135 0 0 96 6 5.88235 SRA1 0 genome.wustl.edu 37 5 139930498 139930498 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 139930498 139930498 T C SNP SRA1 ENST00000336283 human ensembl 74_37 -1 known splice_site c.500-2 e5-2 1.000 - - - no_errors SRA1 HGNC ENSG00000213523 52 0 0 42 4 8.69565 APBB3 0 genome.wustl.edu 37 5 139941253 139941253 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 139941253 139941253 G A SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known silent c.681 p.S227 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 83 0 0 79 8 9.1954 SLC35A4 0 genome.wustl.edu 37 5 139947206 139947206 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 139947206 139947206 C A SNP SLC35A4 ENST00000323146 human ensembl 74_37 +1 known missense c.452 p.A151D 0.177 pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr pfam_Nuc_sug_transpt,pfam_DMT,pirsf_UDP/CMP-sugar_transptr - no_errors SLC35A4 HGNC ENSG00000176087 56 0 0 64 4 5.88235 PCDHA2 0 genome.wustl.edu 37 5 140176593 140176593 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140176593 140176593 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.2044 p.A682T 0.003 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 122 0 0 125 13 9.42029 PCDHA2 0 genome.wustl.edu 37 5 140176640 140176640 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140176640 140176640 C T SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known silent c.2091 p.N697 0.994 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA2 HGNC ENSG00000204969 129 0 0 134 15 10.0671 PCDHA3 0 genome.wustl.edu 37 5 140182255 140182255 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140182255 140182255 C A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1473 p.S491 0.247 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 119 0 0 139 10 6.71141 PCDHA4 0 genome.wustl.edu 37 5 140188402 140188402 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140188402 140188402 C A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known missense c.1630 p.P544T 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 99 0 0 99 8 7.47664 PCDHA5 0 genome.wustl.edu 37 5 140202809 140202809 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140202809 140202809 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known silent c.1449 p.A483 0.635 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 114 0 0 90 19 17.4312 PCDHA5 0 genome.wustl.edu 37 5 140203209 140203209 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140203209 140203209 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1849 p.A617T 0.243 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 59 0 0 55 24 30.3797 PCDHA6 0 genome.wustl.edu 37 5 140207924 140207924 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140207924 140207924 T C SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.248 p.I83T 0.154 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 259 0 0 220 22 9.09091 PCDHA7 0 genome.wustl.edu 37 5 140214222 140214222 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140214222 140214222 T C SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.254 p.F85S 0.999 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 299 0 0 254 24 8.63309 PCDHA8 0 genome.wustl.edu 37 5 140222879 140222879 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140222879 140222879 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1973 p.A658V 0.070 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 104 0 0 82 23 21.9048 PCDHA9 0 genome.wustl.edu 37 5 140230182 140230182 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140230182 140230182 T C SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.2102 p.I701T 0.999 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 89 0 0 89 5 5.31915 PCDHA11 0 genome.wustl.edu 37 5 140248964 140248964 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140248964 140248964 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.276 p.R92 0.288 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 259 0 0 251 18 6.69145 PCDHA11 0 genome.wustl.edu 37 5 140249904 140249904 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140249904 140249904 T C SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known silent c.1216 p.L406 0.551 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 166 0 0 154 16 9.41176 PCDHA11 0 genome.wustl.edu 37 5 140250499 140250499 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140250499 140250499 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1811 p.A604V 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 87 0 0 92 9 8.91089 PCDHA11 0 genome.wustl.edu 37 5 140250882 140250882 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140250882 140250882 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.2194 p.A732T 0.248 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 29 0 0 27 10 27.027 PCDHA12 0 genome.wustl.edu 37 5 140256548 140256548 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140256548 140256548 G A SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known silent c.1491 p.R497 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 100 0 0 98 10 9.25926 PCDHA13 0 genome.wustl.edu 37 5 140263955 140263955 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140263955 140263955 T C SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.2102 p.I701T 0.900 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 118 0 0 101 7 6.48148 PCDHB1 0 genome.wustl.edu 37 5 140431551 140431551 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140431551 140431551 G A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.496 p.G166S 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 72 0 0 60 8 11.7647 PCDHB1 0 genome.wustl.edu 37 5 140433299 140433299 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140433299 140433299 C A SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known silent c.2244 p.S748 0.377 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 114 0 0 85 8 8.60215 PCDHB3 0 genome.wustl.edu 37 5 140481490 140481490 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140481490 140481490 T C SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.1257 p.I419 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 72 0 0 90 11 10.8911 PCDHB4 0 genome.wustl.edu 37 5 140501585 140501585 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140501585 140501585 A G SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.5 p.K2R 0.691 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 49 0 0 41 13 24.0741 PCDHB5 0 genome.wustl.edu 37 5 140515442 140515442 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140515442 140515442 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.426 p.I142 0.008 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 103 0 0 81 20 19.802 PCDHB5 0 genome.wustl.edu 37 5 140515648 140515648 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140515648 140515648 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.632 p.T211I 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 97 0 0 106 7 6.19469 PCDHB5 0 genome.wustl.edu 37 5 140516313 140516313 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140516313 140516313 G A SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1297 p.E433K 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 107 0 0 96 10 9.43396 PCDHB5 0 genome.wustl.edu 37 5 140516700 140516700 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140516700 140516700 T C SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.1684 p.Y562H 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 67 0 0 70 6 7.89474 PCDHB6 0 genome.wustl.edu 37 5 140531928 140531928 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140531928 140531928 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known missense c.2090 p.S697L 0.939 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 153 0 0 152 19 11.1111 ENSG00000255622 0 genome.wustl.edu 37 5 140536963 140536963 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140536963 140536963 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1387 p.E463K 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 107 0 0 97 14 12.6126 ENSG00000255622 0 genome.wustl.edu 37 5 140537167 140537167 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140537167 140537167 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known missense c.1591 p.R531C 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 89 0 0 82 13 13.6842 PCDHB7 0 genome.wustl.edu 37 5 140553330 140553330 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140553330 140553330 C T SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.914 p.A305V 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 105 0 0 79 8 9.1954 PCDHB7 0 genome.wustl.edu 37 5 140554319 140554319 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140554319 140554319 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.1903 p.A635T 0.492 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 145 0 0 161 9 5.29412 PCDHB7 0 genome.wustl.edu 37 5 140554538 140554538 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140554538 140554538 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known missense c.2122 p.A708T 0.311 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 251 0 0 284 16 5.33333 PCDHB8 0 genome.wustl.edu 37 5 140559013 140559013 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140559013 140559013 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1398 p.S466 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 229 0 0 221 28 11.245 PCDHB8 0 genome.wustl.edu 37 5 140559044 140559044 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140559044 140559044 A G SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1429 p.T477A 0.124 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 196 0 0 189 12 5.97015 PCDHB8 0 genome.wustl.edu 37 5 140559515 140559515 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140559515 140559515 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.1900 p.R634C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 57 0 0 64 5 7.24638 PCDHB16 0 genome.wustl.edu 37 5 140564217 140564217 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140564217 140564217 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.2083 p.A695T 0.992 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 131 0 0 148 10 6.32911 PCDHB12 0 genome.wustl.edu 37 5 140589857 140589857 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140589857 140589857 G A SNP PCDHB12 ENST00000239450 human ensembl 74_37 +1 known missense c.1378 p.V460I 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB12 HGNC ENSG00000120328 112 0 0 76 38 33.3333 PCDHB14 0 genome.wustl.edu 37 5 140603685 140603685 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140603685 140603685 A G SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.608 p.E203G 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 90 0 0 70 11 13.5802 PCDHB14 0 genome.wustl.edu 37 5 140605248 140605248 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140605248 140605248 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.2171 p.R724H 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 221 0 0 134 47 25.9669 PCDHB15 0 genome.wustl.edu 37 5 140626180 140626180 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140626180 140626180 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1034 p.P345L 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 140 0 0 85 6 6.59341 SLC25A2 0 genome.wustl.edu 37 5 140683071 140683071 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140683071 140683071 G A SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.362 p.A121V 0.928 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 171 0 0 128 9 6.56934 SLC25A2 0 genome.wustl.edu 37 5 140683297 140683297 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140683297 140683297 C T SNP SLC25A2 ENST00000239451 human ensembl 74_37 -1 known missense c.136 p.G46S 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A2 HGNC ENSG00000120329 82 0 0 81 7 7.95455 TAF7 0 genome.wustl.edu 37 5 140699608 140699608 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140699608 140699608 T A SNP TAF7 ENST00000313368 human ensembl 74_37 -1 known missense c.4 p.S2C 1.000 NULL pfam_TAFII55_prot_cons_reg - no_errors TAF7 HGNC ENSG00000178913 57 0 0 45 4 8.16327 PCDHGA2 0 genome.wustl.edu 37 5 140719387 140719387 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140719387 140719387 A G SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.849 p.K283 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 208 0 0 200 13 6.10329 PCDHGA2 0 genome.wustl.edu 37 5 140720359 140720359 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140720359 140720359 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.1821 p.H607 0.486 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 93 0 0 111 10 8.26446 PCDHGA2 0 genome.wustl.edu 37 5 140720427 140720427 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140720427 140720427 G A SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.1889 p.R630Q 0.659 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 77 0 0 81 5 5.81395 PCDHGA3 0 genome.wustl.edu 37 5 140724148 140724148 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140724148 140724148 A C SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known missense c.548 p.N183T 0.986 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 148 0 0 147 8 5.16129 PCDHGA3 0 genome.wustl.edu 37 5 140724815 140724815 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140724815 140724815 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1215 p.V405 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 103 0 0 70 10 12.5 PCDHGA3 0 genome.wustl.edu 37 5 140725277 140725277 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140725277 140725277 G A SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1677 p.A559 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 137 0 0 152 8 5 PCDHGB1 0 genome.wustl.edu 37 5 140730650 140730650 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140730650 140730650 A G SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.823 p.T275A 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 140 0 0 125 15 10.7143 PCDHGA4 0 genome.wustl.edu 37 5 140735028 140735028 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140735028 140735028 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.261 p.A87 0.988 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 84 0 0 57 8 12.3077 PCDHGB2 0 genome.wustl.edu 37 5 140741611 140741611 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140741611 140741611 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.1909 p.A637T 0.878 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 25 0 0 25 6 19.3548 PCDHGA5 0 genome.wustl.edu 37 5 140745654 140745654 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140745654 140745654 A G SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.1757 p.Y586C 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 96 0 0 74 12 13.9535 PCDHGB3 0 genome.wustl.edu 37 5 140751474 140751474 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140751474 140751474 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.1513 p.V505M 0.044 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 87 0 0 80 9 10.1124 PCDHGA7 0 genome.wustl.edu 37 5 140763143 140763143 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140763143 140763143 C T SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.677 p.A226V 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 23 0 0 25 3 10.7143 PCDHGA7 0 genome.wustl.edu 37 5 140764596 140764596 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140764596 140764596 A G SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.2130 p.V710 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 68 0 0 74 4 5.12821 PCDHGB4 0 genome.wustl.edu 37 5 140769090 140769090 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140769090 140769090 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1639 p.R547C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 47 0 0 46 17 26.9841 PCDHGA8 0 genome.wustl.edu 37 5 140773828 140773828 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140773828 140773828 A G SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1448 p.E483G 0.440 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 39 0 0 28 4 12.5 PCDHGA8 0 genome.wustl.edu 37 5 140774055 140774055 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140774055 140774055 G A SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known missense c.1675 p.A559T 0.009 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 132 0 0 120 16 11.7647 PCDHGA9 0 genome.wustl.edu 37 5 140784150 140784150 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140784150 140784150 G A SNP PCDHGA9 ENST00000573521 human ensembl 74_37 +1 known missense c.1631 p.S544N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA9 HGNC ENSG00000261934 111 0 0 100 6 5.66038 PCDHGB7 0 genome.wustl.edu 37 5 140797634 140797634 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140797634 140797634 G T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.208 p.A70S 0.665 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 69 0 0 49 3 5.76923 PCDHGB7 0 genome.wustl.edu 37 5 140799290 140799290 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140799290 140799290 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known nonsense c.1864 p.R622* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 77 0 0 80 8 9.09091 PCDHGA11 0 genome.wustl.edu 37 5 140800891 140800891 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140800891 140800891 C T SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known nonsense c.97 p.R33* 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 39 0 0 39 4 9.30233 PCDHGA11 0 genome.wustl.edu 37 5 140802352 140802352 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140802352 140802352 T A SNP PCDHGA11 ENST00000398587 human ensembl 74_37 +1 known missense c.1558 p.S520T 0.986 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 124 0 0 120 11 8.39695 PCDHGA12 0 genome.wustl.edu 37 5 140812139 140812139 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140812139 140812139 T C SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1813 p.S605P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 86 0 0 97 32 24.8062 PCDHGA12 0 genome.wustl.edu 37 5 140812199 140812199 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140812199 140812199 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1873 p.E625K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 79 0 0 78 23 22.7723 PCDHGC3 0 genome.wustl.edu 37 5 140857037 140857037 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140857037 140857037 G A SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.1354 p.D452N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 153 0 0 134 15 10.0671 PCDHGC4 0 genome.wustl.edu 37 5 140866146 140866146 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140866146 140866146 G A SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known missense c.1406 p.R469H 0.993 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 147 1 0.675676 141 12 7.84314 PCDH1 0 genome.wustl.edu 37 5 141243630 141243630 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 141243630 141243630 T C SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.2266 p.I756V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 39 0 0 39 7 15.2174 PCDH1 0 genome.wustl.edu 37 5 141244610 141244610 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 141244610 141244610 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.1286 p.A429V 0.994 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 111 0 0 107 13 10.8333 PCDH1 0 genome.wustl.edu 37 5 141248319 141248319 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 141248319 141248319 G A SNP PCDH1 ENST00000287008 human ensembl 74_37 -1 known missense c.718 p.R240C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 46 0 0 56 4 6.66667 PCDH12 0 genome.wustl.edu 37 5 141336597 141336597 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 141336597 141336597 C T SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known missense c.820 p.G274S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 73 0 0 83 6 6.74157 RNF14 0 genome.wustl.edu 37 5 141354437 141354437 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 141354437 141354437 C A SNP RNF14 ENST00000347642 human ensembl 74_37 +1 known missense c.223 p.L75M 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF14 HGNC ENSG00000013561 159 0 0 115 13 10.1562 YIPF5 0 genome.wustl.edu 37 5 143545034 143545034 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 143545034 143545034 T C SNP YIPF5 ENST00000274496 human ensembl 74_37 -1 known missense c.245 p.Y82C 1.000 NULL pfam_Yip1 - no_errors YIPF5 HGNC ENSG00000145817 117 0 0 82 8 8.88889 TRIO 0 genome.wustl.edu 37 5 14358294 14358294 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 14358294 14358294 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.2054 p.T685M 1.000 smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 30 0 0 24 3 11.1111 TRIO 0 genome.wustl.edu 37 5 14485290 14485290 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 14485290 14485290 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.6770 p.S2257I 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 144 0 0 109 6 5.21739 TRIO 0 genome.wustl.edu 37 5 14492761 14492761 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 14492761 14492761 A G SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.7718 p.Y2573C 0.985 superfamily_SH3_domain,smart_SH3_domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 35 0 0 34 3 8.10811 PLAC8L1 0 genome.wustl.edu 37 5 145477795 145477795 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 145477795 145477795 C T SNP PLAC8L1 ENST00000311450 human ensembl 74_37 -1 known silent c.180 p.T60 0.608 NULL pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8L1 HGNC ENSG00000173261 103 0 0 83 10 10.7527 LARS 0 genome.wustl.edu 37 5 145537173 145537173 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 145537173 145537173 A T SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.858 p.N286K 0.997 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 64 0 0 52 3 5.45455 POU4F3 0 genome.wustl.edu 37 5 145719218 145719218 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 145719218 145719218 C A SNP POU4F3 ENST00000230732 human ensembl 74_37 +1 known silent c.228 p.P76 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F3 HGNC ENSG00000091010 82 0 0 74 5 6.32911 TCERG1 0 genome.wustl.edu 37 5 145888807 145888807 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 145888807 145888807 A G SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known missense c.3094 p.R1032G 1.000 pfam_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 127 0 0 78 5 6.0241 STK32A 0 genome.wustl.edu 37 5 146722576 146722576 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 146722576 146722576 A G SNP STK32A ENST00000397936 human ensembl 74_37 +1 known missense c.442 p.K148E 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 STK32A HGNC ENSG00000169302 211 0 0 150 15 9.09091 DPYSL3 0 genome.wustl.edu 37 5 146788299 146788299 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 146788299 146788299 G T SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.682 p.P228T 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 139 0 0 117 8 6.4 DPYSL3 0 genome.wustl.edu 37 5 146795370 146795370 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 146795370 146795370 G A SNP DPYSL3 ENST00000398514 human ensembl 74_37 -1 known missense c.380 p.A127V 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 162 1 0.613497 127 13 9.28571 FAM105B 0 genome.wustl.edu 37 5 14681660 14681660 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 14681660 14681660 G A SNP FAM105B ENST00000284274 human ensembl 74_37 +1 known missense c.412 p.A138T 1.000 prints_FAM105 prints_FAM105,prints_FAM105B,prints_FAM105A - no_errors FAM105B HGNC ENSG00000154124 91 0 0 102 12 10.5263 SPINK1 0 genome.wustl.edu 37 5 147207595 147207595 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 147207595 147207595 A G SNP SPINK1 ENST00000296695 human ensembl 74_37 -1 known missense c.184 p.F62L 0.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom,prints_Prot_inh_Kazal-m - no_errors SPINK1 HGNC ENSG00000164266 56 0 0 27 3 10 SPINK14 0 genome.wustl.edu 37 5 147553843 147553843 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 147553843 147553843 C T SNP SPINK14 ENST00000356972 human ensembl 74_37 +1 known missense c.158 p.T53M 0.004 smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK14 HGNC ENSG00000196800 102 0 0 90 10 10 ADRB2 0 genome.wustl.edu 37 5 148206582 148206582 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 148206582 148206582 G A SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known missense c.188 p.R63H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 64 0 0 48 8 14.2857 ADRB2 0 genome.wustl.edu 37 5 148207139 148207139 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 148207139 148207139 G A SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known missense c.745 p.E249K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 73 0 0 69 6 8 SH3TC2 0 genome.wustl.edu 37 5 148420185 148420185 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 148420185 148420185 T C SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.787 p.T263A 1.000 superfamily_SH3_domain pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 107 0 0 80 8 9.09091 AFAP1L1 0 genome.wustl.edu 37 5 148687000 148687000 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 148687000 148687000 T A SNP AFAP1L1 ENST00000296721 human ensembl 74_37 +1 known missense c.571 p.S191T 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L1 HGNC ENSG00000157510 96 0 0 88 9 9.27835 ANKH 0 genome.wustl.edu 37 5 14871519 14871519 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 14871519 14871519 A G SNP ANKH ENST00000284268 human ensembl 74_37 -1 known missense c.38 p.L13P 1.000 pfam_ANKH pfam_ANKH - no_errors ANKH HGNC ENSG00000154122 49 0 0 57 4 6.55738 IL17B 0 genome.wustl.edu 37 5 148754010 148754010 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 148754010 148754010 C T SNP IL17B ENST00000261796 human ensembl 74_37 -1 known silent c.465 p.P155 0.104 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 57 0 0 64 9 12.3288 ARHGEF37 0 genome.wustl.edu 37 5 149001301 149001301 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 149001301 149001301 A T SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known missense c.1011 p.Q337H 0.990 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 95 0 0 96 11 10.2804 PPARGC1B 0 genome.wustl.edu 37 5 149212461 149212461 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 149212461 149212461 C T SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known silent c.825 p.P275 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 77 0 0 92 5 5.15464 SLC26A2 0 genome.wustl.edu 37 5 149361002 149361002 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 149361002 149361002 G A SNP SLC26A2 ENST00000286298 human ensembl 74_37 +1 known missense c.1846 p.A616T 0.989 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 135 0 0 76 29 27.619 CSF1R 0 genome.wustl.edu 37 5 149456864 149456864 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 149456864 149456864 G A SNP CSF1R ENST00000286301 human ensembl 74_37 -1 known silent c.864 p.S288 0.000 pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,pfscan_Ig-like_dom pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors CSF1R HGNC ENSG00000182578 88 0 0 83 6 6.74157 SLC6A7 0 genome.wustl.edu 37 5 149583563 149583563 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 149583563 149583563 G A SNP SLC6A7 ENST00000230671 human ensembl 74_37 +1 known missense c.1294 p.V432M 0.890 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 32 0 0 27 4 12.9032 ARSI 0 genome.wustl.edu 37 5 149677666 149677666 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 149677666 149677666 A C SNP ARSI ENST00000328668 human ensembl 74_37 -1 known missense c.821 p.V274G 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSI HGNC ENSG00000183876 30 0 0 34 5 12.8205 TCOF1 0 genome.wustl.edu 37 5 149755412 149755412 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 149755412 149755412 C T SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known silent c.1833 p.S611 0.406 pfam_TCS_treacle,prints_Treacle-like_TCS pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 60 0 0 64 7 9.85915 SYNPO 0 genome.wustl.edu 37 5 150027979 150027979 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150027979 150027979 C A SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known silent c.874 p.R292 0.829 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 86 0 0 98 8 7.54717 DCTN4 0 genome.wustl.edu 37 5 150138455 150138455 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150138455 150138455 C T SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known missense c.101 p.S34N 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 111 0 0 133 20 13.0719 ZNF300 0 genome.wustl.edu 37 5 150275987 150275987 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150275987 150275987 C T SNP ZNF300 ENST00000446148 human ensembl 74_37 -1 known missense c.862 p.V288I 0.021 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 ZNF300 HGNC ENSG00000145908 177 0 0 130 13 9.09091 SLC36A2 0 genome.wustl.edu 37 5 150704980 150704980 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150704980 150704980 G A SNP SLC36A2 ENST00000335244 human ensembl 74_37 -1 known missense c.877 p.R293C 0.873 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A2 HGNC ENSG00000186335 87 0 0 56 5 8.19672 SLC36A1 0 genome.wustl.edu 37 5 150838460 150838460 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150838460 150838460 G A SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known missense c.107 p.G36D 0.647 NULL pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 83 0 0 64 5 7.24638 FAT2 0 genome.wustl.edu 37 5 150887158 150887158 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150887158 150887158 G A SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.12074 p.A4025V 0.009 NULL 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 37 0 0 34 5 12.8205 FAT2 0 genome.wustl.edu 37 5 150901461 150901461 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150901461 150901461 T C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.10693 p.T3565A 0.998 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 58 0 0 46 5 9.80392 FAT2 0 genome.wustl.edu 37 5 150922517 150922517 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150922517 150922517 T C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.8171 p.Y2724C 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 111 0 0 94 9 8.73786 FAT2 0 genome.wustl.edu 37 5 150945761 150945761 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 150945761 150945761 A G SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.2732 p.L911P 0.241 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 48 0 0 44 3 6.38298 G3BP1 0 genome.wustl.edu 37 5 151176816 151176816 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 151176816 151176816 C T SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known missense c.568 p.P190S 1.000 NULL pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 55 0 0 40 3 6.97674 GLRA1 0 genome.wustl.edu 37 5 151208616 151208616 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 151208616 151208616 T C SNP GLRA1 ENST00000455880 human ensembl 74_37 -1 known missense c.925 p.K309E 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 105 0 0 116 11 8.66142 GRIA1 0 genome.wustl.edu 37 5 153174264 153174264 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 153174264 153174264 G A SNP GRIA1 ENST00000518783 human ensembl 74_37 +1 known missense c.2384 p.G795D 1.000 pfam_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA1 HGNC ENSG00000155511 79 0 0 58 5 7.93651 FAM114A2 0 genome.wustl.edu 37 5 153372657 153372657 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 153372657 153372657 G C SNP FAM114A2 ENST00000351797 human ensembl 74_37 -1 known missense c.1397 p.A466G 1.000 NULL pfam_DUF719 - no_errors FAM114A2 HGNC ENSG00000055147 79 0 0 61 4 6.15385 GALNT10 0 genome.wustl.edu 37 5 153792469 153792469 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 153792469 153792469 G A SNP GALNT10 ENST00000297107 human ensembl 74_37 +1 known silent c.1407 p.G469 0.022 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 91 0 0 83 9 9.78261 SAP30L 0 genome.wustl.edu 37 5 153830686 153830686 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 153830686 153830686 T A SNP SAP30L ENST00000297109 human ensembl 74_37 +1 known missense c.237 p.N79K 0.996 NULL NULL - no_errors SAP30L HGNC ENSG00000164576 70 0 0 59 5 7.8125 LARP1 0 genome.wustl.edu 37 5 154169932 154169932 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 154169932 154169932 C T SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known missense c.253 p.R85C 0.865 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 41 0 0 39 9 18.75 GEMIN5 0 genome.wustl.edu 37 5 154287325 154287325 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 154287325 154287325 G A SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.2221 p.P741S 0.839 NULL 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 GEMIN5 HGNC ENSG00000082516 256 0 0 180 13 6.73575 KIF4B 0 genome.wustl.edu 37 5 154393675 154393675 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 154393675 154393675 G A SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.256 p.A86T 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 135 0 0 120 13 9.77444 HAVCR2 0 genome.wustl.edu 37 5 156514181 156514181 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 156514181 156514181 A G SNP HAVCR2 ENST00000307851 human ensembl 74_37 -1 known missense c.838 p.Y280H 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR2 HGNC ENSG00000135077 89 0 0 59 7 10.6061 HAVCR2 0 genome.wustl.edu 37 5 156533902 156533902 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 156533902 156533902 C T SNP HAVCR2 ENST00000307851 human ensembl 74_37 -1 known missense c.130 p.A44T 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR2 HGNC ENSG00000135077 174 0 0 135 33 19.6429 FAM71B 0 genome.wustl.edu 37 5 156589648 156589648 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 156589648 156589648 G T SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.1628 p.A543D 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 203 0 0 160 16 9.09091 FAM71B 0 genome.wustl.edu 37 5 156590270 156590270 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 156590270 156590270 T C SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known missense c.1006 p.I336V 0.001 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 164 0 0 124 28 18.4211 NIPAL4 0 genome.wustl.edu 37 5 156895765 156895765 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 156895765 156895765 G T SNP NIPAL4 ENST00000311946 human ensembl 74_37 +1 known missense c.556 p.A186S 0.999 pfam_Mg_trans_NIPA,pfam_DMT pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 151 0 0 117 14 10.687 NIPAL4 0 genome.wustl.edu 37 5 156899932 156899932 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 156899932 156899932 A T SNP NIPAL4 ENST00000311946 human ensembl 74_37 +1 known silent c.1365 p.P455 0.645 NULL pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 71 0 0 65 4 5.7971 ADAM19 0 genome.wustl.edu 37 5 156920054 156920054 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 156920054 156920054 C T SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.1841 p.R614Q 0.492 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 73 0 0 55 17 23.6111 RNF145 0 genome.wustl.edu 37 5 158585587 158585587 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 158585587 158585587 C T SNP RNF145 ENST00000518284 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RNF145 HGNC ENSG00000145860 52 0 0 27 2 6.89655 RNF145 0 genome.wustl.edu 37 5 158596721 158596721 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 158596721 158596721 A G SNP RNF145 ENST00000518802 human ensembl 74_37 -1 known missense c.994 p.Y332H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 43 0 0 44 3 6.38298 IL12B 0 genome.wustl.edu 37 5 158747327 158747327 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 158747327 158747327 G A SNP IL12B ENST00000231228 human ensembl 74_37 -1 known silent c.684 p.F228 1.000 pirsf_IL-12_beta,superfamily_Fibronectin_type3 pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL12B HGNC ENSG00000113302 103 0 0 78 7 8.23529 SLU7 0 genome.wustl.edu 37 5 159832114 159832114 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 159832114 159832114 C T SNP SLU7 ENST00000297151 human ensembl 74_37 -1 known missense c.1316 p.G439D 1.000 NULL pfam_Slu7,superfamily_Znf_CCHC - no_errors SLU7 HGNC ENSG00000164609 135 0 0 81 9 10 GABRA1 0 genome.wustl.edu 37 5 161317996 161317996 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 161317996 161317996 A T SNP GABRA1 ENST00000023897 human ensembl 74_37 +1 known missense c.796 p.I266F 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa1_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA1 HGNC ENSG00000022355 133 0 0 111 6 5.12821 MYO10 0 genome.wustl.edu 37 5 16666836 16666836 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 16666836 16666836 T C SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.6142 p.T2048A 0.998 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 21 0 0 19 2 9.52381 MYO10 0 genome.wustl.edu 37 5 16672884 16672884 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 16672884 16672884 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.5223 p.M1741I 1.000 pfam_Ras-assoc,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 55 0 0 45 5 10 TENM2 0 genome.wustl.edu 37 5 167674382 167674382 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 167674382 167674382 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.6438 p.A2146 0.006 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 100 0 0 79 14 15.0538 WWC1 0 genome.wustl.edu 37 5 167855037 167855037 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 167855037 167855037 G T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known splice_site c.1811-1 e12-1 0.749 - - - no_errors WWC1 HGNC ENSG00000113645 46 0 0 39 7 15.2174 FBLL1 0 genome.wustl.edu 37 5 167957293 167957293 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 167957293 167957293 G A SNP FBLL1 ENST00000338333 human ensembl 74_37 +1 putative missense c.784 p.A262T 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBLL1 HGNC ENSG00000188573 37 0 0 47 5 9.61538 SLIT3 0 genome.wustl.edu 37 5 168244401 168244401 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 168244401 168244401 G A SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known nonsense c.697 p.R233* 0.993 smart_Cys-rich_flank_reg_C pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 47 0 0 38 13 25.4902 SPDL1 0 genome.wustl.edu 37 5 169018068 169018068 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 169018068 169018068 A G SNP SPDL1 ENST00000265295 human ensembl 74_37 +1 known missense c.176 p.K59R 1.000 NULL NULL - no_errors SPDL1 HGNC ENSG00000040275 87 0 0 49 3 5.76923 DOCK2 0 genome.wustl.edu 37 5 169139186 169139186 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 169139186 169139186 A G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.1618 p.T540A 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 88 0 0 54 7 11.4754 DOCK2 0 genome.wustl.edu 37 5 169188543 169188543 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 169188543 169188543 A G SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.2468 p.Y823C 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 200 0 0 138 41 22.905 DOCK2 0 genome.wustl.edu 37 5 169445980 169445980 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 169445980 169445980 C T SNP DOCK2 ENST00000433448 human ensembl 74_37 +1 known missense c.118 p.L40F 1.000 NULL NULL - no_errors DOCK2 HGNC ENSG00000134516 265 0 0 209 51 19.6154 LCP2 0 genome.wustl.edu 37 5 169675795 169675795 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 169675795 169675795 T A SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.1508 p.D503V 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 205 0 0 166 14 7.77778 KCNIP1 0 genome.wustl.edu 37 5 170149719 170149719 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 170149719 170149719 C G SNP KCNIP1 ENST00000411494 human ensembl 74_37 +1 known missense c.363 p.D121E 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors KCNIP1 HGNC ENSG00000182132 63 0 0 42 6 12.5 RANBP17 0 genome.wustl.edu 37 5 170669797 170669797 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 170669797 170669797 T A SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.2749 p.S917T 0.999 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 180 0 0 148 12 7.5 RANBP17 0 genome.wustl.edu 37 5 170725821 170725821 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 170725821 170725821 G A SNP RANBP17 ENST00000523189 human ensembl 74_37 +1 known missense c.3226 p.D1076N 0.944 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors RANBP17 HGNC ENSG00000204764 65 0 0 51 5 8.92857 NPM1 0 genome.wustl.edu 37 5 170818392 170818392 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 170818392 170818392 A T SNP NPM1 ENST00000296930 human ensembl 74_37 +1 known silent c.222 p.V74 0.997 superfamily_Nucleoplasmin_core_dom superfamily_Nucleoplasmin_core_dom - no_errors NPM1 HGNC ENSG00000181163 141 0 0 111 9 7.5 FBXW11 0 genome.wustl.edu 37 5 171303497 171303497 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 171303497 171303497 A T SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.950 p.I317N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 44 0 0 35 7 16.6667 RPL26L1 0 genome.wustl.edu 37 5 172386991 172386991 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 172386991 172386991 C T SNP RPL26L1 ENST00000265100 human ensembl 74_37 +1 known missense c.115 p.R39W 1.000 superfamily_Translation_prot_SH3-like,tigrfam_Ribosomal_L26/L24P_euk/arc pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L26/L24P_euk/arc - no_errors RPL26L1 HGNC ENSG00000037241 107 0 0 85 29 25.4386 NKX2-5 0 genome.wustl.edu 37 5 172660160 172660160 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 172660160 172660160 G A SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known silent c.387 p.N129 0.972 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 17 0 0 7 5 41.6667 STC2 0 genome.wustl.edu 37 5 172752893 172752893 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 172752893 172752893 T C SNP STC2 ENST00000265087 human ensembl 74_37 -1 known missense c.272 p.N91S 1.000 pfam_Stanniocalcin pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 430 0 0 395 33 7.71028 HMP19 0 genome.wustl.edu 37 5 173531319 173531319 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 173531319 173531319 G A SNP HMP19 ENST00000303177 human ensembl 74_37 +1 known missense c.302 p.C101Y 1.000 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG2 Uniprot_gn ENSG00000170091 78 0 0 58 24 29.2683 SFXN1 0 genome.wustl.edu 37 5 174937120 174937120 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 174937120 174937120 C T SNP SFXN1 ENST00000321442 human ensembl 74_37 +1 known missense c.344 p.P115L 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN1 HGNC ENSG00000164466 28 0 0 26 5 16.129 CDHR2 0 genome.wustl.edu 37 5 176004773 176004773 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176004773 176004773 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1486 p.G496S 0.912 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 19 0 0 24 6 20 CDHR2 0 genome.wustl.edu 37 5 176005480 176005480 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176005480 176005480 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known silent c.1689 p.G563 0.455 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 31 0 0 25 5 16.6667 CDHR2 0 genome.wustl.edu 37 5 176011262 176011262 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176011262 176011262 T C SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known splice_site c.2128+2 e17+2 0.991 - - - no_errors CDHR2 HGNC ENSG00000074276 58 0 0 58 5 7.93651 UNC5A 0 genome.wustl.edu 37 5 176295830 176295830 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176295830 176295830 C T SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.586 p.P196S 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 53 0 0 52 7 11.8644 UNC5A 0 genome.wustl.edu 37 5 176297464 176297464 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176297464 176297464 G A SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.815 p.R272H 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 55 0 0 52 7 11.8644 UNC5A 0 genome.wustl.edu 37 5 176306343 176306343 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176306343 176306343 G T SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.2217 p.E739D 1.000 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 123 0 0 151 9 5.625 HK3 0 genome.wustl.edu 37 5 176314586 176314586 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176314586 176314586 G A SNP HK3 ENST00000292432 human ensembl 74_37 -1 known missense c.1466 p.P489L 0.128 pfam_Hexokinase_N pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 38 0 0 44 4 8.33333 NSD1 0 genome.wustl.edu 37 5 176562872 176562872 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176562872 176562872 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.768 p.A256 1.000 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 51 0 0 45 4 8.16327 NSD1 0 genome.wustl.edu 37 5 176694615 176694615 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176694615 176694615 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known silent c.5199 p.C1733 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 251 0 0 172 37 17.7033 NSD1 0 genome.wustl.edu 37 5 176707623 176707623 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176707623 176707623 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.5680 p.R1894C 1.000 smart_AWS,pfscan_AWS pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 106 0 0 95 8 7.76699 MXD3 0 genome.wustl.edu 37 5 176734623 176734623 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176734623 176734623 T C SNP MXD3 ENST00000439742 human ensembl 74_37 -1 known missense c.587 p.H196R 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MXD3 HGNC ENSG00000213347 43 0 0 49 4 7.54717 SLC34A1 0 genome.wustl.edu 37 5 176814840 176814840 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176814840 176814840 C T SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known silent c.610 p.L204 1.000 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 51 0 0 57 3 5 DDX41 0 genome.wustl.edu 37 5 176943356 176943356 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 176943356 176943356 G A SNP DDX41 ENST00000507955 human ensembl 74_37 -1 known silent c.231 p.I77 0.999 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 105 0 0 110 9 7.56303 TMED9 0 genome.wustl.edu 37 5 177022356 177022356 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 177022356 177022356 C T SNP TMED9 ENST00000332598 human ensembl 74_37 +1 known missense c.647 p.A216V 1.000 pfam_GOLD pfam_GOLD,pfscan_GOLD - no_errors TMED9 HGNC ENSG00000184840 78 0 0 90 6 6.25 PROP1 0 genome.wustl.edu 37 5 177419899 177419899 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 177419899 177419899 C T SNP PROP1 ENST00000308304 human ensembl 74_37 -1 known silent c.492 p.V164 0.003 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors PROP1 HGNC ENSG00000175325 28 0 0 24 5 17.2414 HNRNPAB 0 genome.wustl.edu 37 5 177637611 177637611 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 177637611 177637611 A T SNP HNRNPAB ENST00000358344 human ensembl 74_37 +1 known missense c.986 p.Y329F 1.000 NULL pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPAB HGNC ENSG00000197451 30 0 0 22 3 12 COL23A1 0 genome.wustl.edu 37 5 177682016 177682016 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 177682016 177682016 G A SNP COL23A1 ENST00000407622 human ensembl 74_37 -1 known missense c.889 p.P297S 1.000 NULL pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 160 0 0 156 9 5.45455 ZNF354B 0 genome.wustl.edu 37 5 178293336 178293336 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 178293336 178293336 T C SNP ZNF354B ENST00000322434 human ensembl 74_37 +1 known missense c.125 p.V42A 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 125 0 0 77 20 20.6186 ZFP2 0 genome.wustl.edu 37 5 178359389 178359389 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 178359389 178359389 T C SNP ZFP2 ENST00000361362 human ensembl 74_37 +1 known missense c.1075 p.C359R 0.986 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ENSG00000198939 94 0 0 55 4 6.77966 GRM6 0 genome.wustl.edu 37 5 178413301 178413301 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 178413301 178413301 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1954 p.A652T 0.011 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 33 0 0 27 11 28.9474 ADAMTS2 0 genome.wustl.edu 37 5 178699971 178699971 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 178699971 178699971 A G SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known missense c.629 p.V210A 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 72 0 0 73 10 12.0482 MAML1 0 genome.wustl.edu 37 5 179201856 179201856 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179201856 179201856 A G SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.3029 p.D1010G 0.999 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 137 0 0 133 12 8.27586 SQSTM1 0 genome.wustl.edu 37 5 179251252 179251252 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179251252 179251252 G A SNP SQSTM1 ENST00000389805 human ensembl 74_37 +1 known missense c.602 p.G201D 1.000 NULL pfam_Znf_ZZ,pfam_OPR_PB1,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 72 0 0 80 10 11.1111 TBC1D9B 0 genome.wustl.edu 37 5 179302057 179302057 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179302057 179302057 G A SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known silent c.2031 p.S677 0.973 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 68 0 0 67 8 10.6667 RASGEF1C 0 genome.wustl.edu 37 5 179564616 179564616 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179564616 179564616 G A SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known nonsense c.274 p.Q92* 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 21 0 0 12 4 25 RASGEF1C 0 genome.wustl.edu 37 5 179565047 179565047 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179565047 179565047 T C SNP RASGEF1C ENST00000361132 human ensembl 74_37 -1 known silent c.6 p.P2 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGEF1C HGNC ENSG00000146090 55 0 0 54 4 6.89655 MAPK9 0 genome.wustl.edu 37 5 179688787 179688787 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179688787 179688787 C T SNP MAPK9 ENST00000452135 human ensembl 74_37 -1 known missense c.347 p.C116Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 355 0 0 255 15 5.55556 MAPK9 0 genome.wustl.edu 37 5 179696371 179696371 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179696371 179696371 A T SNP MAPK9 ENST00000452135 human ensembl 74_37 -1 known missense c.161 p.V54D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK9 HGNC ENSG00000050748 98 0 0 60 6 9.09091 FLT4 0 genome.wustl.edu 37 5 180049752 180049752 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 180049752 180049752 G A SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1636 p.L546F 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 69 0 0 51 4 7.27273 OR2Y1 0 genome.wustl.edu 37 5 180166620 180166620 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 180166620 180166620 C T SNP OR2Y1 ENST00000307832 human ensembl 74_37 -1 known missense c.439 p.A147T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2Y1 HGNC ENSG00000174339 36 0 0 34 8 19.0476 MGAT1 0 genome.wustl.edu 37 5 180219453 180219453 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 180219453 180219453 C T SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known silent c.519 p.P173 0.456 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 71 0 0 57 10 14.9254 OR2V2 0 genome.wustl.edu 37 5 180582008 180582008 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 180582008 180582008 T C SNP OR2V2 ENST00000328275 human ensembl 74_37 +1 known silent c.66 p.S22 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2V2 HGNC ENSG00000182613 217 0 0 211 19 8.26087 TRIM52 0 genome.wustl.edu 37 5 180687728 180687728 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 180687728 180687728 G A SNP TRIM52 ENST00000327767 human ensembl 74_37 -1 known silent c.87 p.D29 0.254 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM52 HGNC ENSG00000183718 43 0 0 46 3 6.12245 LRRC14B 0 genome.wustl.edu 37 5 192330 192330 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 192330 192330 C T SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel missense c.677 p.A226V 0.036 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 11 0 0 7 3 30 LRRC14B 0 genome.wustl.edu 37 5 195116 195116 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 195116 195116 A T SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel missense c.1193 p.N398I 1.000 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 34 0 0 40 5 11.1111 CCDC127 0 genome.wustl.edu 37 5 205460 205460 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 205460 205460 G A SNP CCDC127 ENST00000296824 human ensembl 74_37 -1 known silent c.735 p.V245 0.000 NULL NULL - no_errors CCDC127 HGNC ENSG00000164366 133 0 0 122 7 5.42636 CDH12 0 genome.wustl.edu 37 5 21975268 21975268 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 21975268 21975268 A T SNP CDH12 ENST00000382254 human ensembl 74_37 -1 known missense c.458 p.I153N 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH12 HGNC ENSG00000154162 132 0 0 79 28 26.1682 PRDM9 0 genome.wustl.edu 37 5 23522467 23522467 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 23522467 23522467 G C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.563 p.G188A 0.000 pfam_SSXRD_motif pfam_Znf_C2H2,pfam_SSXRD_motif,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors PRDM9 HGNC ENSG00000164256 191 0 0 136 26 16.0494 SDHA 0 genome.wustl.edu 37 5 235410 235410 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 235410 235410 G A SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.1216 p.V406M 0.999 pfam_FAD_bind_dom,superfamily_Succ_DH/fumarate_Rdtase_cat,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 48 0 0 41 13 24.0741 CDH10 0 genome.wustl.edu 37 5 24488088 24488088 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 24488088 24488088 T A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.2051 p.K684I 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 90 0 0 90 14 13.4615 CDH9 0 genome.wustl.edu 37 5 26881477 26881477 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 26881477 26881477 T C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.2138 p.Q713R 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 142 0 0 101 6 5.60748 CDH9 0 genome.wustl.edu 37 5 26886083 26886083 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 26886083 26886083 T C SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.1622 p.D541G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 222 0 0 147 13 8.125 CDH9 0 genome.wustl.edu 37 5 26906938 26906938 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 26906938 26906938 A G SNP CDH9 ENST00000231021 human ensembl 74_37 -1 known missense c.533 p.V178A 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 62 0 0 55 4 6.77966 IRX2 0 genome.wustl.edu 37 5 2748698 2748698 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 2748698 2748698 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known missense c.1124 p.S375L 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 49 0 0 45 6 11.7647 C5orf38 0 genome.wustl.edu 37 5 2752744 2752744 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 2752744 2752744 T C SNP C5orf38 ENST00000334000 human ensembl 74_37 +1 known missense c.209 p.L70S 0.001 NULL NULL - no_errors C5orf38 HGNC ENSG00000186493 123 0 0 99 7 6.60377 PDCD6 0 genome.wustl.edu 37 5 306755 306755 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 306755 306755 A G SNP PDCD6 ENST00000264933 human ensembl 74_37 +1 known missense c.247 p.S83G 0.998 smart_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PDCD6 HGNC ENSG00000249915 64 0 0 81 6 6.89655 CDH6 0 genome.wustl.edu 37 5 31305342 31305342 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 31305342 31305342 T G SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.1061 p.V354G 0.016 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 CDH6 HGNC ENSG00000113361 129 0 0 109 11 9.16667 DROSHA 0 genome.wustl.edu 37 5 31526342 31526342 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 31526342 31526342 T A SNP DROSHA ENST00000344624 human ensembl 74_37 -1 known missense c.698 p.H233L 1.000 NULL pfam_RNase_III_dom,pfam_dsRNA-bd_dom,superfamily_RNase_III_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DROSHA HGNC ENSG00000113360 92 0 0 83 11 11.7021 ZFR 0 genome.wustl.edu 37 5 32355933 32355933 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 32355933 32355933 T C SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.3158 p.D1053G 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 189 0 0 155 15 8.82353 TARS 0 genome.wustl.edu 37 5 33455788 33455788 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 33455788 33455788 A G SNP TARS ENST00000265112 human ensembl 74_37 +1 known silent c.672 p.E224 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 93 0 0 66 7 9.58904 RXFP3 0 genome.wustl.edu 37 5 33938202 33938202 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 33938202 33938202 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known missense c.1357 p.V453M 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 23 0 0 24 8 25 SLC45A2 0 genome.wustl.edu 37 5 33944918 33944918 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 33944918 33944918 G A SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known silent c.1428 p.C476 0.919 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 19 0 0 16 7 30.4348 RAI14 0 genome.wustl.edu 37 5 34814723 34814723 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 34814723 34814723 G A SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known silent c.897 p.S299 0.999 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 92 0 0 54 4 6.89655 SPEF2 0 genome.wustl.edu 37 5 35806994 35806994 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 35806994 35806994 T C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known silent c.5196 p.S1732 0.001 pfam_HATC_dom_C pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 63 0 0 41 3 6.81818 IL7R 0 genome.wustl.edu 37 5 35860990 35860990 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 35860990 35860990 T C SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.119 p.F40S 0.998 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 148 0 0 134 15 10.0671 IRX1 0 genome.wustl.edu 37 5 3600783 3600783 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 3600783 3600783 C T SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1373 p.P458L 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 53 0 0 35 15 30 SKP2 0 genome.wustl.edu 37 5 36153144 36153144 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 36153144 36153144 G T SNP SKP2 ENST00000274255 human ensembl 74_37 +1 known missense c.280 p.G94C 1.000 pfscan_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors SKP2 HGNC ENSG00000145604 80 0 0 56 7 11.1111 SKP2 0 genome.wustl.edu 37 5 36182033 36182033 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 36182033 36182033 A G SNP SKP2 ENST00000274255 human ensembl 74_37 +1 known missense c.1175 p.H392R 0.999 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors SKP2 HGNC ENSG00000145604 129 0 0 98 15 13.2743 NIPBL 0 genome.wustl.edu 37 5 36961658 36961658 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 36961658 36961658 A G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.431 p.Q144R 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 122 0 0 80 5 5.88235 NIPBL 0 genome.wustl.edu 37 5 37006671 37006671 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 37006671 37006671 C A SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known nonsense c.4068 p.Y1356* 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 27 0 0 22 5 18.5185 NIPBL 0 genome.wustl.edu 37 5 37020717 37020717 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 37020717 37020717 C T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known nonsense c.5167 p.R1723* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 111 0 0 80 21 20.7921 NIPBL 0 genome.wustl.edu 37 5 37020965 37020965 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 37020965 37020965 A T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.5314 p.I1772F 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 246 0 0 158 20 11.236 C5orf42 0 genome.wustl.edu 37 5 37187584 37187584 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 37187584 37187584 A G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.4012 p.F1338L 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 69 0 0 48 6 11.1111 NUP155 0 genome.wustl.edu 37 5 37328463 37328463 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 37328463 37328463 G A SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.1873 p.H625Y 1.000 NULL pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 64 0 0 48 4 7.69231 WDR70 0 genome.wustl.edu 37 5 37605339 37605339 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 37605339 37605339 C A SNP WDR70 ENST00000265107 human ensembl 74_37 +1 known missense c.1091 p.T364N 1.000 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 - no_errors WDR70 HGNC ENSG00000082068 63 0 0 36 3 7.69231 LIFR 0 genome.wustl.edu 37 5 38511961 38511961 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 38511961 38511961 A G SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.667 p.Y223H 0.876 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 82 0 0 40 5 11.1111 RICTOR 0 genome.wustl.edu 37 5 38947539 38947539 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 38947539 38947539 T C SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.4213 p.M1405V 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 55 0 0 26 11 29.7297 RICTOR 0 genome.wustl.edu 37 5 39002671 39002671 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39002671 39002671 C T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.358 p.V120M 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 249 0 0 165 9 5.17241 RICTOR 0 genome.wustl.edu 37 5 39002727 39002727 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39002727 39002727 G A SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.302 p.A101V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 241 0 0 166 17 9.28962 C9 0 genome.wustl.edu 37 5 39311418 39311418 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39311418 39311418 C T SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.932 p.R311H 0.711 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 101 0 0 66 15 18.5185 DAB2 0 genome.wustl.edu 37 5 39376984 39376984 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39376984 39376984 A C SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.1905 p.D635E 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 148 0 0 111 9 7.5 DAB2 0 genome.wustl.edu 37 5 39382948 39382948 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39382948 39382948 G T SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known silent c.1113 p.T371 0.800 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 73 0 0 77 8 9.41176 DAB2 0 genome.wustl.edu 37 5 39390565 39390565 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39390565 39390565 G A SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.443 p.A148V 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 124 1 0.8 80 16 16.6667 DAB2 0 genome.wustl.edu 37 5 39392490 39392490 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39392490 39392490 T C SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.307 p.K103E 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 102 0 0 78 8 9.30233 PTGER4 0 genome.wustl.edu 37 5 40691943 40691943 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 40691943 40691943 A G SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known silent c.930 p.P310 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 139 0 0 133 11 7.63889 PTGER4 0 genome.wustl.edu 37 5 40692107 40692107 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 40692107 40692107 A G SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.1094 p.D365G 0.908 prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 57 0 0 49 5 9.25926 PRKAA1 0 genome.wustl.edu 37 5 40777625 40777625 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 40777625 40777625 C T SNP PRKAA1 ENST00000354209 human ensembl 74_37 -1 known missense c.191 p.R64Q 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,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 85 0 0 61 6 8.95522 CARD6 0 genome.wustl.edu 37 5 40853695 40853695 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 40853695 40853695 G A SNP CARD6 ENST00000254691 human ensembl 74_37 +1 known missense c.2261 p.G754D 0.010 NULL pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,pfscan_CARD - no_errors CARD6 HGNC ENSG00000132357 258 0 0 212 23 9.78723 C7 0 genome.wustl.edu 37 5 40955575 40955575 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 40955575 40955575 G A SNP C7 ENST00000313164 human ensembl 74_37 +1 known missense c.1180 p.D394N 0.995 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 167 0 0 157 15 8.72093 OXCT1 0 genome.wustl.edu 37 5 41842866 41842866 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 41842866 41842866 A T SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known silent c.582 p.G194 0.823 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 242 0 0 230 20 8 OXCT1 0 genome.wustl.edu 37 5 41850186 41850186 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 41850186 41850186 C T SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known silent c.510 p.S170 0.371 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 103 0 0 91 22 19.469 OXCT1 0 genome.wustl.edu 37 5 41850248 41850248 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 41850248 41850248 C T SNP OXCT1 ENST00000196371 human ensembl 74_37 -1 known missense c.448 p.A150T 1.000 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_A pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT1 HGNC ENSG00000083720 51 0 0 44 7 13.7255 PAIP1 0 genome.wustl.edu 37 5 43527569 43527569 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 43527569 43527569 T C SNP PAIP1 ENST00000306846 human ensembl 74_37 -1 known missense c.1349 p.Y450C 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 78 0 0 48 7 12.7273 PAIP1 0 genome.wustl.edu 37 5 43556088 43556088 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 43556088 43556088 G A SNP PAIP1 ENST00000306846 human ensembl 74_37 -1 known silent c.279 p.P93 0.106 NULL pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors PAIP1 HGNC ENSG00000172239 210 0 0 179 17 8.67347 NNT 0 genome.wustl.edu 37 5 43624143 43624143 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 43624143 43624143 G A SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.697 p.V233I 1.000 pfam_AlaDH/PNT_NAD(H)-bd,tigrfam_NADP_transhyd_a pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 278 0 0 196 20 9.25926 MRPS30 0 genome.wustl.edu 37 5 44809273 44809273 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 44809273 44809273 T C SNP MRPS30 ENST00000507110 human ensembl 74_37 +1 known missense c.209 p.V70A 0.989 pfam_Ribosomal_L37/S30 pfam_Ribosomal_L37/S30 - no_errors MRPS30 HGNC ENSG00000112996 25 0 0 19 3 13.6364 HCN1 0 genome.wustl.edu 37 5 45262884 45262884 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 45262884 45262884 C T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.1812 p.K604 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 84 0 0 54 8 12.9032 EXOC3 0 genome.wustl.edu 37 5 453871 453871 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 453871 453871 A G SNP EXOC3 ENST00000315013 human ensembl 74_37 +1 known missense c.751 p.I251V 0.367 pfam_Sec6 pfam_Sec6 - no_errors EXOC3 HGNC ENSG00000180104 81 0 0 75 8 9.63855 HCN1 0 genome.wustl.edu 37 5 45695850 45695850 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 45695850 45695850 T A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known missense c.346 p.S116C 1.000 pfam_Ion_trans_N pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 67 0 0 64 6 8.57143 ITGA1 0 genome.wustl.edu 37 5 52157298 52157298 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 52157298 52157298 C T SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.200 p.P67L 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 182 0 0 122 25 17.0068 ITGA2 0 genome.wustl.edu 37 5 52344509 52344509 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 52344509 52344509 A G SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.539 p.D180G 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 229 0 0 188 11 5.52764 ITGA2 0 genome.wustl.edu 37 5 52353888 52353888 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 52353888 52353888 A G SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.1130 p.E377G 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 80 0 0 55 4 6.77966 ITGA2 0 genome.wustl.edu 37 5 52367773 52367773 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 52367773 52367773 C A SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known silent c.2241 p.P747 0.981 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 75 0 0 52 6 10.3448 ADAMTS16 0 genome.wustl.edu 37 5 5239880 5239880 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 5239880 5239880 C T SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2365 p.R789C 0.367 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 108 1 0.917431 91 30 24.7934 FST 0 genome.wustl.edu 37 5 52780953 52780953 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 52780953 52780953 T A SNP FST ENST00000256759 human ensembl 74_37 +1 known missense c.848 p.V283D 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,superfamily_TB_dom,smart_Fol_N,smart_Kazal_dom - no_errors FST HGNC ENSG00000134363 129 0 0 101 7 6.48148 SKIV2L2 0 genome.wustl.edu 37 5 54603888 54603888 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 54603888 54603888 A T SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.47 p.D16V 0.991 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 91 0 0 80 5 5.88235 SKIV2L2 0 genome.wustl.edu 37 5 54603965 54603965 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 54603965 54603965 G A SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.124 p.D42N 0.960 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 66 0 0 78 5 6.0241 KIAA0947 0 genome.wustl.edu 37 5 5463038 5463038 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 5463038 5463038 T C SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known silent c.3591 p.S1197 0.554 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 22 0 0 18 3 14.2857 KIAA0947 0 genome.wustl.edu 37 5 5463287 5463287 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 5463287 5463287 A T SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.3840 p.K1280N 0.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 30 0 0 27 6 18.1818 KIAA0947 0 genome.wustl.edu 37 5 5464075 5464075 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 5464075 5464075 A G SNP KIAA0947 ENST00000296564 human ensembl 74_37 +1 known missense c.4628 p.N1543S 0.035 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 56 0 0 39 4 9.30233 SKIV2L2 0 genome.wustl.edu 37 5 54696086 54696086 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 54696086 54696086 G A SNP SKIV2L2 ENST00000230640 human ensembl 74_37 +1 known missense c.2318 p.G773D 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L2 HGNC ENSG00000039123 90 0 0 61 6 8.95522 IL31RA 0 genome.wustl.edu 37 5 55168208 55168208 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 55168208 55168208 T A SNP IL31RA ENST00000447346 human ensembl 74_37 +1 known missense c.383 p.I128N 0.908 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL31RA HGNC ENSG00000164509 94 0 0 93 8 7.92079 IL6ST 0 genome.wustl.edu 37 5 55237466 55237466 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 55237466 55237466 A G SNP IL6ST ENST00000336909 human ensembl 74_37 -1 known missense c.2201 p.M734T 1.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 175 0 0 136 19 12.2581 ANKRD55 0 genome.wustl.edu 37 5 55407092 55407092 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 55407092 55407092 T C SNP ANKRD55 ENST00000341048 human ensembl 74_37 -1 known missense c.1483 p.K495E 0.920 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD55 HGNC ENSG00000164512 224 0 0 169 21 11.0526 MIER3 0 genome.wustl.edu 37 5 56219147 56219147 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 56219147 56219147 G T SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known silent c.1461 p.A487 0.663 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 120 1 0.826446 85 25 22.7273 MIER3 0 genome.wustl.edu 37 5 56231255 56231255 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 56231255 56231255 C T SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known missense c.595 p.V199I 1.000 pfam_ELM2_dom,pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 143 0 0 96 26 21.3115 PLK2 0 genome.wustl.edu 37 5 57751521 57751521 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 57751521 57751521 A G SNP PLK2 ENST00000274289 human ensembl 74_37 -1 known silent c.1470 p.D490 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 36 0 0 42 3 6.66667 DEPDC1B 0 genome.wustl.edu 37 5 59943345 59943345 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 59943345 59943345 T C SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known silent c.330 p.S110 1.000 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 129 0 0 75 24 24.2424 ERCC8 0 genome.wustl.edu 37 5 60195478 60195478 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 60195478 60195478 T C SNP ERCC8 ENST00000265038 human ensembl 74_37 -1 known missense c.694 p.K232E 0.995 superfamily_WD40_repeat_dom,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 ERCC8 HGNC ENSG00000049167 214 0 0 110 44 28.5714 HTR1A 0 genome.wustl.edu 37 5 63256873 63256873 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 63256873 63256873 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.674 p.R225H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 113 0 0 85 16 15.8416 HTR1A 0 genome.wustl.edu 37 5 63256991 63256991 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 63256991 63256991 C T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.556 p.A186T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 204 1 0.487805 179 17 8.67347 HTR1A 0 genome.wustl.edu 37 5 63257128 63257128 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 63257128 63257128 T A SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known missense c.419 p.D140V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 49 0 0 50 4 7.40741 CEP72 0 genome.wustl.edu 37 5 640603 640603 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 640603 640603 G A SNP CEP72 ENST00000264935 human ensembl 74_37 +1 known missense c.1423 p.G475S 0.000 NULL smart_Leu-rich_rpt_typical-subtyp,smart_U2A'_phosphoprotein32A_C - no_errors CEP72 HGNC ENSG00000112877 99 0 0 65 16 19.7531 PPWD1 0 genome.wustl.edu 37 5 64867672 64867672 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 64867672 64867672 T C SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known silent c.528 p.F176 1.000 superfamily_WD40_repeat_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 90 0 0 71 7 8.97436 NLN 0 genome.wustl.edu 37 5 65077166 65077166 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 65077166 65077166 A G SNP NLN ENST00000380985 human ensembl 74_37 +1 known missense c.740 p.H247R 1.000 NULL pfam_Pept_M3A_M3B - no_errors NLN HGNC ENSG00000123213 97 0 0 67 6 8.21918 SREK1 0 genome.wustl.edu 37 5 65466667 65466667 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 65466667 65466667 G A SNP SREK1 ENST00000334121 human ensembl 74_37 +1 known missense c.1376 p.R459Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SREK1 HGNC ENSG00000153914 45 0 0 34 10 22.7273 MAST4 0 genome.wustl.edu 37 5 66459236 66459236 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 66459236 66459236 C T SNP MAST4 ENST00000404260 human ensembl 74_37 +1 known missense c.4238 p.A1413V 0.001 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST4 HGNC ENSG00000069020 33 0 0 22 6 21.4286 PIK3R1 0 genome.wustl.edu 37 5 67584567 67584567 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 67584567 67584567 C T SNP PIK3R1 ENST00000320694 human ensembl 74_37 +1 known missense c.4 p.H2Y 1.000 NULL pfam_SH2,superfamily_Guanylate-bd_C,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 116 0 0 111 13 10.4839 PIK3R1 0 genome.wustl.edu 37 5 67593317 67593317 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 67593317 67593317 A G SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known missense c.2087 p.Y696C 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 251 0 0 210 24 10.2564 BDP1 0 genome.wustl.edu 37 5 70782320 70782320 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 70782320 70782320 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.1079 p.R360H 0.998 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 128 0 0 87 15 14.7059 BDP1 0 genome.wustl.edu 37 5 70809109 70809109 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 70809109 70809109 G A SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4345 p.A1449T 0.934 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 158 0 0 108 12 10 MAP1B 0 genome.wustl.edu 37 5 71495096 71495096 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 71495096 71495096 T C SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.5914 p.Y1972H 0.977 pfam_MAP1B_neuraxin pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 138 0 0 134 12 8.21918 ZNF366 0 genome.wustl.edu 37 5 71756528 71756528 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 71756528 71756528 A T SNP ZNF366 ENST00000318442 human ensembl 74_37 -1 known missense c.796 p.Y266N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF366 HGNC ENSG00000178175 117 0 0 142 10 6.57895 TNPO1 0 genome.wustl.edu 37 5 72173107 72173107 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 72173107 72173107 G A SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.854 p.C285Y 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 95 0 0 62 6 8.82353 TNPO1 0 genome.wustl.edu 37 5 72183988 72183988 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 72183988 72183988 C T SNP TNPO1 ENST00000337273 human ensembl 74_37 +1 known missense c.1387 p.R463C 1.000 pfam_HEAT,superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC ENSG00000083312 140 0 0 146 10 6.41026 UTP15 0 genome.wustl.edu 37 5 72864245 72864245 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 72864245 72864245 A T SNP UTP15 ENST00000296792 human ensembl 74_37 +1 known missense c.184 p.I62F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_U3_snoRNA-assocProt_15_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors UTP15 HGNC ENSG00000164338 145 0 0 94 10 9.61538 HMGCR 0 genome.wustl.edu 37 5 74646159 74646159 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 74646159 74646159 A T SNP HMGCR ENST00000287936 human ensembl 74_37 +1 known missense c.740 p.N247I 1.000 pfam_Patched,tigrfam_HMG_CoA_Rdtase_metazoan pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 65 0 0 49 6 10.9091 IQGAP2 0 genome.wustl.edu 37 5 75991429 75991429 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 75991429 75991429 G A SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known missense c.4144 p.E1382K 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 75 0 0 67 4 5.6338 F2R 0 genome.wustl.edu 37 5 76029054 76029054 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 76029054 76029054 C T SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.1004 p.A335V 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 120 0 0 92 28 23.3333 ADCY2 0 genome.wustl.edu 37 5 7773061 7773061 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 7773061 7773061 G A SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known missense c.2231 p.C744Y 1.000 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 218 0 0 181 14 7.17949 DMGDH 0 genome.wustl.edu 37 5 78324268 78324268 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 78324268 78324268 T A SNP DMGDH ENST00000255189 human ensembl 74_37 -1 known missense c.2020 p.I674L 1.000 pfam_GCV_T_N,pfam_SoxG pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 75 0 0 56 9 13.8462 BHMT2 0 genome.wustl.edu 37 5 78376559 78376559 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 78376559 78376559 G A SNP BHMT2 ENST00000255192 human ensembl 74_37 +1 known missense c.308 p.G103D 0.026 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 137 0 0 114 7 5.78512 CMYA5 0 genome.wustl.edu 37 5 79025398 79025398 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 79025398 79025398 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.810 p.E270 1.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 108 0 0 69 17 19.7674 CMYA5 0 genome.wustl.edu 37 5 79029726 79029726 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 79029726 79029726 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.5138 p.I1713T 0.105 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 81 0 0 60 19 24.0506 CMYA5 0 genome.wustl.edu 37 5 79030209 79030209 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 79030209 79030209 C A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.5621 p.P1874H 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 111 0 0 98 8 7.54717 CMYA5 0 genome.wustl.edu 37 5 79031080 79031080 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 79031080 79031080 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.6492 p.P2164 0.010 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 104 1 0.952381 75 8 9.63855 CMYA5 0 genome.wustl.edu 37 5 79032520 79032520 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 79032520 79032520 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.7932 p.D2644 0.002 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 82 0 0 66 6 8.33333 RASGRF2 0 genome.wustl.edu 37 5 80381689 80381689 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 80381689 80381689 A G SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known silent c.1230 p.K410 0.991 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 184 0 0 130 18 12.1622 RASGRF2 0 genome.wustl.edu 37 5 80521507 80521507 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 80521507 80521507 A G SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known missense c.3632 p.Y1211C 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF2 HGNC ENSG00000113319 45 0 0 25 10 28.5714 CKMT2 0 genome.wustl.edu 37 5 80559317 80559317 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 80559317 80559317 G A SNP CKMT2 ENST00000254035 human ensembl 74_37 +1 known missense c.1022 p.R341H 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 93 0 0 66 30 31.25 ACOT12 0 genome.wustl.edu 37 5 80626717 80626717 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 80626717 80626717 C T SNP ACOT12 ENST00000307624 human ensembl 74_37 -1 known silent c.1434 p.S478 0.002 pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_Thioestr_supf,pfam_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT12 HGNC ENSG00000172497 63 0 0 43 5 10.4167 ATG10 0 genome.wustl.edu 37 5 81474333 81474333 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 81474333 81474333 A G SNP ATG10 ENST00000282185 human ensembl 74_37 +1 known missense c.380 p.D127G 1.000 pfam_Autophagy-rel_prot_3 pfam_Autophagy-rel_prot_3 - no_errors ATG10 HGNC ENSG00000152348 163 0 0 112 14 11.1111 XRCC4 0 genome.wustl.edu 37 5 82400807 82400807 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 82400807 82400807 T C SNP XRCC4 ENST00000338635 human ensembl 74_37 +1 known silent c.69 p.S23 0.889 pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N pfam_DNA_repair_prot_XRCC4,superfamily_XRCC4_N - no_errors XRCC4 HGNC ENSG00000152422 151 0 0 106 10 8.62069 VCAN 0 genome.wustl.edu 37 5 82779373 82779373 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 82779373 82779373 T A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known nonsense c.36 p.C12* 0.999 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 84 0 0 49 14 22.2222 NBPF22P 0 genome.wustl.edu 37 5 85578422 85578422 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 85578422 85578422 C T SNP NBPF22P ENST00000590707 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NBPF22P HGNC ENSG00000205449 11 0 0 9 5 35.7143 RASA1 0 genome.wustl.edu 37 5 86659208 86659208 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 86659208 86659208 T C SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known silent c.1497 p.G499 0.992 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 108 1 0.917431 93 5 5.10204 TMEM161B 0 genome.wustl.edu 37 5 87494828 87494828 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 87494828 87494828 C T SNP TMEM161B ENST00000296595 human ensembl 74_37 -1 known missense c.1054 p.A352T 1.000 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161B HGNC ENSG00000164180 73 0 0 59 7 10.6061 MEF2C 0 genome.wustl.edu 37 5 88027692 88027692 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 88027692 88027692 A G SNP MEF2C ENST00000437473 human ensembl 74_37 -1 known missense c.664 p.S222P 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,prints_TF_MADSbox,pfscan_TF_MADSbox - no_errors MEF2C HGNC ENSG00000081189 55 0 0 53 4 7.01754 GPR98 0 genome.wustl.edu 37 5 89923354 89923354 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 89923354 89923354 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.999 p.F333 0.998 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 197 0 0 146 12 7.59494 GPR98 0 genome.wustl.edu 37 5 90052421 90052421 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 90052421 90052421 G T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known nonsense c.11731 p.G3911* 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 67 0 0 55 8 12.6984 SEMA5A 0 genome.wustl.edu 37 5 9154655 9154655 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 9154655 9154655 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1426 p.R476W 0.617 superfamily_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 74 0 0 87 11 11.2245 SEMA5A 0 genome.wustl.edu 37 5 9154780 9154780 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 9154780 9154780 A G SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1301 p.V434A 0.997 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 115 1 0.862069 95 8 7.76699 NR2F1 0 genome.wustl.edu 37 5 92923678 92923678 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 92923678 92923678 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known silent c.519 p.L173 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 69 0 0 66 4 5.71429 ANKRD32 0 genome.wustl.edu 37 5 94030751 94030751 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94030751 94030751 G A SNP ANKRD32 ENST00000265140 human ensembl 74_37 +1 known missense c.2911 p.D971N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD32 HGNC ENSG00000133302 67 0 0 40 6 13.0435 FAM81B 0 genome.wustl.edu 37 5 94731831 94731831 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94731831 94731831 C T SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known missense c.245 p.A82V 0.990 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 144 0 0 86 17 16.5049 TTC37 0 genome.wustl.edu 37 5 94826671 94826671 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94826671 94826671 T C SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.3872 p.N1291S 0.072 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 61 0 0 32 5 13.5135 TTC37 0 genome.wustl.edu 37 5 94849321 94849321 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94849321 94849321 T A SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.2732 p.Y911F 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 153 0 0 110 12 9.83607 TTC37 0 genome.wustl.edu 37 5 94857846 94857846 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94857846 94857846 T C SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known missense c.1923 p.I641M 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 159 0 0 119 7 5.55556 SPATA9 0 genome.wustl.edu 37 5 94994504 94994504 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94994504 94994504 A C SNP SPATA9 ENST00000274432 human ensembl 74_37 -1 known silent c.588 p.P196 0.174 NULL NULL - no_errors SPATA9 HGNC ENSG00000145757 100 0 0 52 6 10.3448 ELL2 0 genome.wustl.edu 37 5 95249552 95249552 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 95249552 95249552 C T SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.404 p.R135Q 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 202 1 0.492611 128 26 16.8831 PCSK1 0 genome.wustl.edu 37 5 95746500 95746500 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 95746500 95746500 C T SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.1073 p.G358E 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 224 0 0 187 14 6.96517 ERAP1 0 genome.wustl.edu 37 5 96139196 96139196 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 96139196 96139196 T C SNP ERAP1 ENST00000296754 human ensembl 74_37 -1 known missense c.434 p.Y145C 0.990 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ERAP1 HGNC ENSG00000164307 102 0 0 104 10 8.77193 ERAP2 0 genome.wustl.edu 37 5 96251474 96251474 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 96251474 96251474 G A SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known splice_site c.2739+1 e17+1 1.000 - - - no_errors ERAP2 HGNC ENSG00000164308 149 0 0 117 8 6.4 RGMB 0 genome.wustl.edu 37 5 98129124 98129124 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 98129124 98129124 C T SNP RGMB ENST00000308234 human ensembl 74_37 +1 known silent c.1104 p.G368 1.000 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 16 0 0 6 3 33.3333 CHD1 0 genome.wustl.edu 37 5 98194704 98194704 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 98194704 98194704 T C SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.4540 p.N1514D 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 74 0 0 45 3 6.25 SIM1 0 genome.wustl.edu 37 6 100841584 100841584 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 100841584 100841584 G A SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known missense c.1349 p.A450V 0.946 pfam_SIM_C pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom - no_errors SIM1 HGNC ENSG00000112246 95 0 0 71 18 20.2247 ASCC3 0 genome.wustl.edu 37 6 101099511 101099511 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 101099511 101099511 T C SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known silent c.3000 p.E1000 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 91 0 0 56 4 6.66667 ASCC3 0 genome.wustl.edu 37 6 101296112 101296112 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 101296112 101296112 A G SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.713 p.M238T 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 119 0 0 74 8 9.7561 ASCC3 0 genome.wustl.edu 37 6 101296277 101296277 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 101296277 101296277 G T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.548 p.P183Q 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 102 0 0 71 7 8.97436 LINC00518 0 genome.wustl.edu 37 6 10430275 10430275 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 10430275 10430275 T C SNP LINC00518 ENST00000472178 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00518 HGNC ENSG00000183674 108 0 0 115 9 7.25806 POPDC3 0 genome.wustl.edu 37 6 105606454 105606454 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 105606454 105606454 T C SNP POPDC3 ENST00000254765 human ensembl 74_37 -1 known missense c.767 p.Y256C 0.552 NULL pfam_Popeye_prot,superfamily_cNMP-bd-like - no_errors POPDC3 HGNC ENSG00000132429 150 0 0 125 8 6.01504 PREP 0 genome.wustl.edu 37 6 105736671 105736671 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 105736671 105736671 G A SNP PREP ENST00000369110 human ensembl 74_37 -1 known silent c.1416 p.G472 1.000 prints_Peptidase_S9A pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 68 0 0 52 13 20 AIM1 0 genome.wustl.edu 37 6 106968337 106968337 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 106968337 106968337 C T SNP AIM1 ENST00000369066 human ensembl 74_37 +1 known missense c.2030 p.A677V 0.553 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 70 0 0 53 4 7.01754 RTN4IP1 0 genome.wustl.edu 37 6 107050795 107050795 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 107050795 107050795 A G SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known missense c.623 p.V208A 0.945 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 112 0 0 76 5 6.17284 PAK1IP1 0 genome.wustl.edu 37 6 10709645 10709645 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 10709645 10709645 A G SNP PAK1IP1 ENST00000379568 human ensembl 74_37 +1 known missense c.1139 p.E380G 0.980 NULL 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 PAK1IP1 HGNC ENSG00000111845 102 0 0 60 8 11.7647 QRSL1 0 genome.wustl.edu 37 6 107096961 107096961 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 107096961 107096961 T A SNP QRSL1 ENST00000369046 human ensembl 74_37 +1 known missense c.442 p.Y148N 0.998 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 103 0 0 50 15 23.0769 TMEM14C 0 genome.wustl.edu 37 6 10730924 10730924 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 10730924 10730924 T C SNP TMEM14C ENST00000466421 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TMEM14C HGNC ENSG00000111843 42 0 0 51 3 5.55556 MAK 0 genome.wustl.edu 37 6 10796316 10796316 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 10796316 10796316 A G SNP MAK ENST00000313243 human ensembl 74_37 -1 known missense c.1058 p.L353P 0.000 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 MAK HGNC ENSG00000111837 337 0 0 311 30 8.79765 MAK 0 genome.wustl.edu 37 6 10802142 10802142 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 10802142 10802142 G A SNP MAK ENST00000313243 human ensembl 74_37 -1 known nonsense c.814 p.R272* 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 MAK HGNC ENSG00000111837 121 0 0 102 6 5.55556 SCML4 0 genome.wustl.edu 37 6 108067978 108067978 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 108067978 108067978 G A SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known silent c.315 p.A105 0.005 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 80 0 0 60 13 17.8082 SEC63 0 genome.wustl.edu 37 6 108246125 108246125 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 108246125 108246125 A G SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.236 p.L79P 1.000 NULL pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 114 0 0 65 5 7.14286 OSTM1 0 genome.wustl.edu 37 6 108395540 108395540 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 108395540 108395540 C T SNP OSTM1 ENST00000193322 human ensembl 74_37 -1 known missense c.316 p.A106T 1.000 pfam_Osteopetrosis-assoc_TM_1 pfam_Osteopetrosis-assoc_TM_1 - no_errors OSTM1 HGNC ENSG00000081087 23 0 0 26 3 10.3448 CEP57L1 0 genome.wustl.edu 37 6 109484127 109484127 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 109484127 109484127 A G SNP CEP57L1 ENST00000359793 human ensembl 74_37 +1 known missense c.1337 p.N446S 1.000 NULL pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 57 0 0 33 5 13.1579 ZBTB24 0 genome.wustl.edu 37 6 109803146 109803146 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 109803146 109803146 C A SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.84 p.E28D 0.976 pfam_BTB_POZ,superfamily_BTB/POZ_fold pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 71 0 0 62 7 10.1449 AK9 0 genome.wustl.edu 37 6 109854523 109854523 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 109854523 109854523 C G SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.3501 p.K1167N 0.996 pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 81 0 0 45 4 8.16327 AK9 0 genome.wustl.edu 37 6 109871475 109871475 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 109871475 109871475 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.2782 p.H928Y 0.999 superfamily_P-loop_NTPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 136 0 0 110 8 6.77966 ELOVL2 0 genome.wustl.edu 37 6 10989995 10989995 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 10989995 10989995 T C SNP ELOVL2 ENST00000354666 human ensembl 74_37 -1 known missense c.706 p.I236V 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC ENSG00000197977 80 0 0 69 4 5.47945 GPR6 0 genome.wustl.edu 37 6 110300428 110300428 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 110300428 110300428 C T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.158 p.P53L 0.056 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 53 0 0 43 10 18.8679 GPR6 0 genome.wustl.edu 37 6 110300509 110300509 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 110300509 110300509 C T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.239 p.P80L 0.003 prints_GPR6 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 130 0 0 113 26 18.705 GPR6 0 genome.wustl.edu 37 6 110300639 110300639 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 110300639 110300639 C T SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known silent c.369 p.F123 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 110 0 0 113 6 5.04202 SLC22A16 0 genome.wustl.edu 37 6 110777921 110777921 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 110777921 110777921 C T SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.353 p.G118D 0.990 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 227 0 0 187 15 7.42574 AMD1 0 genome.wustl.edu 37 6 111213504 111213504 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111213504 111213504 A G SNP AMD1 ENST00000368885 human ensembl 74_37 +1 known missense c.473 p.Y158C 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 110 0 0 81 7 7.95455 KIAA1919 0 genome.wustl.edu 37 6 111585063 111585063 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111585063 111585063 T C SNP KIAA1919 ENST00000368847 human ensembl 74_37 +1 known missense c.227 p.L76P 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 173 0 0 135 17 11.1842 REV3L 0 genome.wustl.edu 37 6 111680216 111680216 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111680216 111680216 A T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.6881 p.I2294K 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 85 0 0 53 3 5.35714 REV3L 0 genome.wustl.edu 37 6 111694279 111694279 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111694279 111694279 T A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.5279 p.D1760V 0.998 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 191 0 0 164 10 5.74713 REV3L 0 genome.wustl.edu 37 6 111696103 111696103 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111696103 111696103 C T SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.3455 p.G1152D 1.000 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 201 0 0 141 8 5.36913 REV3L 0 genome.wustl.edu 37 6 111696362 111696362 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111696362 111696362 T C SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.3196 p.N1066D 0.984 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B - no_errors REV3L HGNC ENSG00000009413 114 0 0 75 5 6.25 NEDD9 0 genome.wustl.edu 37 6 11191156 11191156 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 11191156 11191156 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.946 p.A316T 0.897 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 84 0 0 78 9 10.3448 FYN 0 genome.wustl.edu 37 6 112041137 112041137 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 112041137 112041137 G A SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.118 p.P40S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 55 0 0 57 5 8.06452 HDAC2 0 genome.wustl.edu 37 6 114267237 114267237 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 114267237 114267237 A T SNP HDAC2 ENST00000398283 human ensembl 74_37 -1 known missense c.1199 p.I400N 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC2 HGNC ENSG00000196591 135 0 0 97 7 6.73077 TMEM170B 0 genome.wustl.edu 37 6 11565992 11565992 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 11565992 11565992 A T SNP TMEM170B ENST00000543875 human ensembl 74_37 +1 known missense c.191 p.H64L 1.000 pfam_Transmembrane_pr_170 pfam_Transmembrane_pr_170 - no_errors TMEM170B HGNC ENSG00000205269 229 0 0 215 19 8.11966 DSE 0 genome.wustl.edu 37 6 116758204 116758204 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 116758204 116758204 A G SNP DSE ENST00000537543 human ensembl 74_37 +1 known missense c.2630 p.D877G 1.000 NULL superfamily_Chondroitin_lyas - no_errors DSE HGNC ENSG00000111817 70 0 0 57 4 6.55738 ZUFSP 0 genome.wustl.edu 37 6 116987885 116987885 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 116987885 116987885 T C SNP ZUFSP ENST00000368576 human ensembl 74_37 -1 known silent c.471 p.P157 0.991 smart_Znf_C2H2-like pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 123 0 0 80 7 8.04598 GPRC6A 0 genome.wustl.edu 37 6 117113550 117113550 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 117113550 117113550 T C SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.2536 p.K846E 0.990 pfscan_GPCR_3_C pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 120 0 0 86 10 10.4167 RFX6 0 genome.wustl.edu 37 6 117237196 117237196 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 117237196 117237196 A G SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known missense c.806 p.K269R 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 110 0 0 70 16 18.6047 ROS1 0 genome.wustl.edu 37 6 117715341 117715341 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 117715341 117715341 A G SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.1148 p.F383S 1.000 smart_LDLR_classB_rpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 71 0 0 56 4 6.66667 FAM184A 0 genome.wustl.edu 37 6 119341193 119341193 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 119341193 119341193 T G SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.1282 p.T428P 0.999 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 102 1 0.970874 74 4 5.12821 TBC1D32 0 genome.wustl.edu 37 6 121452891 121452891 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 121452891 121452891 A T SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2904 p.D968E 0.595 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 47 0 0 32 6 15.7895 GJA1 0 genome.wustl.edu 37 6 121768523 121768523 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 121768523 121768523 A G SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.530 p.Y177C 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 156 0 0 109 27 19.8529 SERINC1 0 genome.wustl.edu 37 6 122777743 122777743 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 122777743 122777743 A G SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known missense c.254 p.V85A 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 73 0 0 38 9 19.1489 CLVS2 0 genome.wustl.edu 37 6 123332155 123332155 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 123332155 123332155 G A SNP CLVS2 ENST00000275162 human ensembl 74_37 +1 known missense c.415 p.A139T 1.000 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_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors CLVS2 HGNC ENSG00000146352 157 0 0 117 8 6.4 TPD52L1 0 genome.wustl.edu 37 6 125541286 125541286 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 125541286 125541286 T C SNP TPD52L1 ENST00000534000 human ensembl 74_37 +1 known missense c.82 p.S28P 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 188 0 0 127 20 13.6054 HDDC2 0 genome.wustl.edu 37 6 125621699 125621699 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 125621699 125621699 C T SNP HDDC2 ENST00000398153 human ensembl 74_37 -1 known missense c.191 p.R64H 0.000 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 127 0 0 102 11 9.73451 NCOA7 0 genome.wustl.edu 37 6 126203608 126203608 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 126203608 126203608 G A SNP NCOA7 ENST00000368357 human ensembl 74_37 +1 known missense c.610 p.E204K 1.000 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors NCOA7 HGNC ENSG00000111912 70 0 0 40 10 20 HINT3 0 genome.wustl.edu 37 6 126293417 126293417 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 126293417 126293417 T C SNP HINT3 ENST00000229633 human ensembl 74_37 +1 known missense c.332 p.V111A 0.988 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like - no_errors HINT3 HGNC ENSG00000111911 136 0 0 97 16 14.1593 RSPO3 0 genome.wustl.edu 37 6 127476519 127476519 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 127476519 127476519 T C SNP RSPO3 ENST00000368317 human ensembl 74_37 +1 known silent c.570 p.C190 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC ENSG00000146374 64 0 0 57 4 6.55738 RNF146 0 genome.wustl.edu 37 6 127608346 127608346 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 127608346 127608346 C T SNP RNF146 ENST00000368314 human ensembl 74_37 +1 known silent c.588 p.S196 1.000 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 95 0 0 63 6 8.69565 SOGA3 0 genome.wustl.edu 37 6 127796643 127796643 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 127796643 127796643 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.2528 p.A843V 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 125 0 0 113 33 22.6027 SOGA3 0 genome.wustl.edu 37 6 127836177 127836177 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 127836177 127836177 G T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1117 p.L373M 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 121 0 0 106 7 6.19469 SOGA3 0 genome.wustl.edu 37 6 127837089 127837089 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 127837089 127837089 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.671 p.G224D 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 35 0 0 24 4 14.2857 SOGA3 0 genome.wustl.edu 37 6 127837612 127837612 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 127837612 127837612 G A SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known silent c.148 p.L50 0.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 67 0 0 47 4 7.84314 THEMIS 0 genome.wustl.edu 37 6 128040898 128040898 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 128040898 128040898 C A SNP THEMIS ENST00000543064 human ensembl 74_37 -1 known missense c.1946 p.G649V 0.986 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 84 0 0 68 11 13.9241 PTPRK 0 genome.wustl.edu 37 6 128302346 128302346 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 128302346 128302346 T C SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.3677 p.D1226G 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_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 71 0 0 61 13 17.5676 PTPRK 0 genome.wustl.edu 37 6 128388793 128388793 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 128388793 128388793 C T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.2028 p.P676 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 106 0 0 107 7 6.14035 PTPRK 0 genome.wustl.edu 37 6 128410836 128410836 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 128410836 128410836 A G SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known silent c.1464 p.D488 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 136 0 0 88 25 22.1239 LAMA2 0 genome.wustl.edu 37 6 129799866 129799866 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 129799866 129799866 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.7480 p.G2494S 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 132 0 0 84 19 18.4466 LAMA2 0 genome.wustl.edu 37 6 129802444 129802444 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 129802444 129802444 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.7609 p.V2537M 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 133 0 0 88 9 9.27835 LAMA2 0 genome.wustl.edu 37 6 129826384 129826384 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 129826384 129826384 G T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.8587 p.V2863L 0.995 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 103 0 0 79 9 10.2273 L3MBTL3 0 genome.wustl.edu 37 6 130381225 130381225 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 130381225 130381225 G A SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known missense c.804 p.M268I 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 64 0 0 40 4 9.09091 SAMD3 0 genome.wustl.edu 37 6 130465868 130465868 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 130465868 130465868 C T SNP SAMD3 ENST00000368134 human ensembl 74_37 -1 known missense c.1360 p.E454K 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 91 0 0 79 5 5.95238 EPB41L2 0 genome.wustl.edu 37 6 131220650 131220650 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 131220650 131220650 A T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known missense c.1217 p.V406D 1.000 pirsf_Band_41_protein,pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain 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 92 0 0 56 4 6.66667 EPB41L2 0 genome.wustl.edu 37 6 131277431 131277431 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 131277431 131277431 C T SNP EPB41L2 ENST00000337057 human ensembl 74_37 -1 known silent c.195 p.E65 1.000 pirsf_Band_41_protein 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 191 1 0.520833 145 10 6.45161 MED23 0 genome.wustl.edu 37 6 131915302 131915302 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 131915302 131915302 C T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3187 p.E1063K 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 78 0 0 67 5 6.94444 MED23 0 genome.wustl.edu 37 6 131927653 131927653 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 131927653 131927653 T A SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.1351 p.I451F 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 115 0 0 70 8 10.2564 ENPP3 0 genome.wustl.edu 37 6 131992414 131992414 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 131992414 131992414 A G SNP ENPP3 ENST00000357639 human ensembl 74_37 +1 known missense c.589 p.M197V 0.998 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 123 0 0 108 11 9.2437 CTAGE9 0 genome.wustl.edu 37 6 132031748 132031748 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 132031748 132031748 C A SNP CTAGE9 ENST00000314099 human ensembl 74_37 -1 known missense c.410 p.R137M 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 301 1 0.331126 232 13 5.30612 ENPP1 0 genome.wustl.edu 37 6 132190497 132190497 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 132190497 132190497 G A SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known splice_site c.1274-1 e13-1 1.000 - - - no_errors ENPP1 HGNC ENSG00000197594 78 0 0 50 3 5.66038 MOXD1 0 genome.wustl.edu 37 6 132636881 132636881 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 132636881 132636881 T C SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known silent c.1401 p.S467 0.927 superfamily_PHM/PNGase_F_dom pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 150 0 0 120 11 8.39695 MOXD1 0 genome.wustl.edu 37 6 132695860 132695860 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 132695860 132695860 A G SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known silent c.321 p.H107 0.974 pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 118 0 0 78 10 11.3636 TAAR5 0 genome.wustl.edu 37 6 132909949 132909949 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 132909949 132909949 A C SNP TAAR5 ENST00000258034 human ensembl 74_37 -1 known missense c.877 p.F293V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam - no_errors TAAR5 HGNC ENSG00000135569 122 0 0 97 11 10.1852 VNN2 0 genome.wustl.edu 37 6 133072393 133072393 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 133072393 133072393 T C SNP VNN2 ENST00000326499 human ensembl 74_37 -1 known missense c.1091 p.E364G 0.958 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC ENSG00000112303 156 0 0 110 13 10.5691 SLC18B1 0 genome.wustl.edu 37 6 133092043 133092043 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 133092043 133092043 A G SNP SLC18B1 ENST00000275227 human ensembl 74_37 -1 known silent c.1290 p.Y430 0.073 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18B1 HGNC ENSG00000146409 324 0 0 213 13 5.75221 EYA4 0 genome.wustl.edu 37 6 133834178 133834178 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 133834178 133834178 T C SNP EYA4 ENST00000355167 human ensembl 74_37 +1 known splice_site c.1501+2 e15+2 1.000 - - - no_errors EYA4 HGNC ENSG00000112319 57 0 0 49 6 10.9091 TCF21 0 genome.wustl.edu 37 6 134210807 134210807 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 134210807 134210807 G A SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known missense c.272 p.R91H 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 71 0 0 70 24 25.5319 TCF21 0 genome.wustl.edu 37 6 134210965 134210965 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 134210965 134210965 T C SNP TCF21 ENST00000237316 human ensembl 74_37 +1 known missense c.430 p.Y144H 0.997 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF21 HGNC ENSG00000118526 73 0 0 76 7 8.43373 ALDH8A1 0 genome.wustl.edu 37 6 135271131 135271131 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 135271131 135271131 A G SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.61 p.C21R 0.998 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 103 0 0 81 12 12.9032 AHI1 0 genome.wustl.edu 37 6 135751062 135751062 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 135751062 135751062 A T SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.2450 p.I817N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 24 0 0 13 3 18.75 AHI1 0 genome.wustl.edu 37 6 135778714 135778714 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 135778714 135778714 A G SNP AHI1 ENST00000265602 human ensembl 74_37 -1 known missense c.1069 p.S357P 1.000 NULL pfam_WD40_repeat,pfam_SH3_domain,pfam_SH3_2,superfamily_WD40_repeat_dom,superfamily_SH3_domain,smart_WD40_repeat,smart_SH3_domain,pfscan_SH3_domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_SH3_domain - no_errors AHI1 HGNC ENSG00000135541 107 0 0 86 6 6.52174 SIRT5 0 genome.wustl.edu 37 6 13588569 13588569 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 13588569 13588569 C G SNP SIRT5 ENST00000606117 human ensembl 74_37 +1 known missense c.122 p.A41G 0.998 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC ENSG00000124523 69 0 0 45 4 8.16327 PDE7B 0 genome.wustl.edu 37 6 136173140 136173140 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 136173140 136173140 T C SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known missense c.4 p.S2P 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 135 0 0 110 8 6.77966 RANBP9 0 genome.wustl.edu 37 6 13634706 13634706 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 13634706 13634706 G A SNP RANBP9 ENST00000011619 human ensembl 74_37 -1 known silent c.1752 p.S584 1.000 NULL pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP9 HGNC ENSG00000010017 103 0 0 78 9 10.3448 PDE7B 0 genome.wustl.edu 37 6 136472325 136472325 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 136472325 136472325 A G SNP PDE7B ENST00000308191 human ensembl 74_37 +1 known missense c.410 p.H137R 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7B HGNC ENSG00000171408 93 0 0 63 9 12.5 BCLAF1 0 genome.wustl.edu 37 6 136601001 136601001 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 136601001 136601001 C T SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.4 p.G2S 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 65 0 0 53 3 5.35714 MAP7 0 genome.wustl.edu 37 6 136677924 136677924 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 136677924 136677924 C T SNP MAP7 ENST00000454590 human ensembl 74_37 -1 known missense c.1987 p.A663T 0.893 NULL pfam_MAP7 - no_errors MAP7 HGNC ENSG00000135525 88 0 0 72 5 6.49351 PEX7 0 genome.wustl.edu 37 6 137187764 137187764 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 137187764 137187764 G A SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known splice_site c.527-1 e6-1 1.000 - - - no_errors PEX7 HGNC ENSG00000112357 41 0 0 33 4 10.8108 PEX7 0 genome.wustl.edu 37 6 137187813 137187813 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 137187813 137187813 T A SNP PEX7 ENST00000318471 human ensembl 74_37 +1 known missense c.575 p.I192N 1.000 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 PEX7 HGNC ENSG00000112357 55 0 0 32 4 11.1111 IFNGR1 0 genome.wustl.edu 37 6 137519370 137519370 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 137519370 137519370 C A SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.1268 p.S423I 0.000 NULL pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 62 0 0 60 7 10.4478 IFNGR1 0 genome.wustl.edu 37 6 137519722 137519722 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 137519722 137519722 A G SNP IFNGR1 ENST00000367739 human ensembl 74_37 -1 known missense c.916 p.S306P 0.203 pfam_Interferon_gamma_pox/mammal pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC ENSG00000027697 74 0 0 60 6 9.09091 MCUR1 0 genome.wustl.edu 37 6 13792125 13792125 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 13792125 13792125 T C SNP MCUR1 ENST00000379170 human ensembl 74_37 -1 known missense c.1009 p.I337V 0.998 pfam_DUF1640 pfam_DUF1640 - no_errors MCUR1 HGNC ENSG00000050393 65 0 0 56 3 5.08475 MCUR1 0 genome.wustl.edu 37 6 13802559 13802559 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 13802559 13802559 T C SNP MCUR1 ENST00000379170 human ensembl 74_37 -1 known silent c.555 p.A185 0.975 pfam_DUF1640 pfam_DUF1640 - no_errors MCUR1 HGNC ENSG00000050393 135 0 0 106 11 9.40171 KIAA1244 0 genome.wustl.edu 37 6 138583990 138583990 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 138583990 138583990 G A SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.1370 p.R457H 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 40 0 0 36 8 18.1818 ECT2L 0 genome.wustl.edu 37 6 139203916 139203916 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 139203916 139203916 G A SNP ECT2L ENST00000367682 human ensembl 74_37 +1 known missense c.1936 p.V646M 0.951 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 69 0 0 61 8 11.5942 HECA 0 genome.wustl.edu 37 6 139487472 139487472 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 139487472 139487472 T C SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.323 p.L108P 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 110 0 0 103 11 9.64912 TXLNB 0 genome.wustl.edu 37 6 139591760 139591760 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 139591760 139591760 C T SNP TXLNB ENST00000358430 human ensembl 74_37 -1 known missense c.520 p.D174N 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNB HGNC ENSG00000164440 45 0 0 46 5 9.80392 NMBR 0 genome.wustl.edu 37 6 142397169 142397169 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 142397169 142397169 G A SNP NMBR ENST00000258042 human ensembl 74_37 -1 known silent c.789 p.R263 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_NeuroB_rcpt,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NMBR HGNC ENSG00000135577 60 0 0 39 3 7.14286 GPR126 0 genome.wustl.edu 37 6 142714119 142714119 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 142714119 142714119 T G SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.1343 p.V448G 1.000 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 96 0 0 50 12 19.3548 GPR126 0 genome.wustl.edu 37 6 142741057 142741057 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 142741057 142741057 G A SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known silent c.3135 p.V1045 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 175 0 0 137 36 20.8092 GPR126 0 genome.wustl.edu 37 6 142764510 142764510 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 142764510 142764510 C T SNP GPR126 ENST00000367609 human ensembl 74_37 +1 known missense c.3611 p.A1204V 0.871 NULL pfam_GPCR_2_secretin-like,pfam_CUB_dom,pfam_GPS_dom,pfam_Pentaxin,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Pentaxin,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR126 HGNC ENSG00000112414 250 0 0 196 45 18.6722 HIVEP2 0 genome.wustl.edu 37 6 143093789 143093789 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 143093789 143093789 T C SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2087 p.K696R 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 170 0 0 144 23 13.7725 STX11 0 genome.wustl.edu 37 6 144507898 144507898 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 144507898 144507898 A G SNP STX11 ENST00000367568 human ensembl 74_37 +1 known missense c.134 p.Y45C 1.000 pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX11 HGNC ENSG00000135604 25 0 0 39 6 13.3333 UTRN 0 genome.wustl.edu 37 6 144750813 144750813 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 144750813 144750813 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.791 p.R264H 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 88 0 0 63 20 24.0964 UTRN 0 genome.wustl.edu 37 6 144811253 144811253 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 144811253 144811253 T C SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.4181 p.L1394S 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 157 0 0 117 12 9.30233 UTRN 0 genome.wustl.edu 37 6 144835835 144835835 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 144835835 144835835 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.5123 p.R1708H 1.000 pfam_Spectrin_repeat,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 176 0 0 114 29 20.2797 UTRN 0 genome.wustl.edu 37 6 145156925 145156925 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 145156925 145156925 G A SNP UTRN ENST00000367545 human ensembl 74_37 +1 known silent c.9675 p.E3225 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 288 0 0 246 19 7.16981 FBXO30 0 genome.wustl.edu 37 6 146126254 146126254 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 146126254 146126254 A G SNP FBXO30 ENST00000237281 human ensembl 74_37 -1 known silent c.1288 p.L430 0.655 NULL pfam_F-box_dom,superfamily_F-box_dom,superfamily_TRAF-like,pfscan_F-box_dom,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 237 0 0 184 16 8 GRM1 0 genome.wustl.edu 37 6 146720540 146720540 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 146720540 146720540 T C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2365 p.F789L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 128 0 0 90 14 13.4615 GRM1 0 genome.wustl.edu 37 6 146755885 146755885 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 146755885 146755885 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3538 p.A1180T 1.000 pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3_mtglu_rcpt_5 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 65 0 0 68 10 12.8205 SASH1 0 genome.wustl.edu 37 6 148854021 148854021 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 148854021 148854021 C T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.1653 p.Y551 1.000 pfam_rSAM/SH3_domain-containing,superfamily_SH3_domain pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 105 0 0 89 12 11.8812 SASH1 0 genome.wustl.edu 37 6 148865704 148865704 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 148865704 148865704 G T SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.3098 p.S1033I 0.006 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 32 0 0 40 3 6.97674 SASH1 0 genome.wustl.edu 37 6 148865849 148865849 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 148865849 148865849 G C SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.3243 p.L1081F 0.223 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 20 0 0 13 4 23.5294 UST 0 genome.wustl.edu 37 6 149340278 149340278 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 149340278 149340278 A G SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.685 p.I229V 1.000 pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 108 0 0 73 6 7.59494 TAB2 0 genome.wustl.edu 37 6 149699487 149699487 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 149699487 149699487 T C SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.436 p.S146P 0.993 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 84 0 0 60 6 9.09091 TAB2 0 genome.wustl.edu 37 6 149699659 149699659 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 149699659 149699659 C T SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.608 p.P203L 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 136 0 0 138 8 5.47945 TAB2 0 genome.wustl.edu 37 6 149700267 149700267 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 149700267 149700267 A G SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known missense c.1216 p.T406A 1.000 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 72 0 0 68 8 10.5263 GINM1 0 genome.wustl.edu 37 6 149900053 149900053 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 149900053 149900053 T C SNP GINM1 ENST00000367419 human ensembl 74_37 +1 known missense c.373 p.S125P 0.998 NULL NULL - no_errors GINM1 HGNC ENSG00000055211 78 0 0 55 4 6.77966 KATNA1 0 genome.wustl.edu 37 6 149924471 149924471 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 149924471 149924471 A G SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known missense c.662 p.L221P 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 66 0 0 55 6 9.83607 KATNA1 0 genome.wustl.edu 37 6 149944357 149944357 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 149944357 149944357 T C SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known missense c.383 p.N128S 1.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 106 0 0 102 15 12.8205 LATS1 0 genome.wustl.edu 37 6 150001570 150001570 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 150001570 150001570 C A SNP LATS1 ENST00000253339 human ensembl 74_37 -1 known missense c.2034 p.Q678H 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/Ts_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS1 HGNC ENSG00000131023 166 0 0 100 6 5.66038 RAET1E 0 genome.wustl.edu 37 6 150211123 150211123 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 150211123 150211123 T C SNP RAET1E ENST00000357183 human ensembl 74_37 -1 known missense c.244 p.Y82D 0.002 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 77 0 0 88 11 11.1111 IYD 0 genome.wustl.edu 37 6 150713543 150713543 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 150713543 150713543 G A SNP IYD ENST00000229447 human ensembl 74_37 +1 known missense c.433 p.V145M 0.000 pfam_Nitroreductase-like,superfamily_Nitroreductase-like pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 114 0 0 78 29 27.1028 MTHFD1L 0 genome.wustl.edu 37 6 151270190 151270190 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 151270190 151270190 T C SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known silent c.1647 p.D549 0.981 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 68 0 0 63 5 7.35294 MTHFD1L 0 genome.wustl.edu 37 6 151331062 151331062 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 151331062 151331062 C T SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known nonsense c.2233 p.R745* 1.000 pfam_Formate_THF_ligase,superfamily_P-loop_NTPase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 106 0 0 94 7 6.93069 ZBTB2 0 genome.wustl.edu 37 6 151687891 151687891 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 151687891 151687891 C T SNP ZBTB2 ENST00000325144 human ensembl 74_37 -1 known missense c.310 p.A104T 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 127 0 0 114 8 6.55738 C6orf211 0 genome.wustl.edu 37 6 151790133 151790133 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 151790133 151790133 C T SNP C6orf211 ENST00000367294 human ensembl 74_37 +1 known missense c.1214 p.A405V 0.969 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 68 0 0 62 7 10.1449 CCDC170 0 genome.wustl.edu 37 6 151869554 151869554 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 151869554 151869554 T C SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known missense c.704 p.L235P 1.000 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 52 0 0 49 5 9.25926 ESR1 0 genome.wustl.edu 37 6 152415579 152415579 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152415579 152415579 C T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known nonsense c.1429 p.R477* 0.907 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 116 0 0 108 19 14.9606 SYNE1 0 genome.wustl.edu 37 6 152453334 152453334 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152453334 152453334 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.26017 p.S8673T 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 130 0 0 121 13 9.70149 SYNE1 0 genome.wustl.edu 37 6 152473104 152473104 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152473104 152473104 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24302 p.R8101H 1.000 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 44 0 0 31 4 11.4286 SYNE1 0 genome.wustl.edu 37 6 152558018 152558018 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152558018 152558018 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.20133 p.S6711 0.996 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 70 0 0 50 10 16.6667 SYNE1 0 genome.wustl.edu 37 6 152599230 152599230 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152599230 152599230 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.18567 p.N6189 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 138 0 0 111 43 27.9221 SYNE1 0 genome.wustl.edu 37 6 152652942 152652942 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152652942 152652942 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.12878 p.E4293G 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 100 0 0 96 8 7.69231 SYNE1 0 genome.wustl.edu 37 6 152771937 152771937 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152771937 152771937 A T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.3218 p.L1073H 0.767 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 179 0 0 169 14 7.65027 MYCT1 0 genome.wustl.edu 37 6 153043137 153043137 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 153043137 153043137 G T SNP MYCT1 ENST00000367245 human ensembl 74_37 +1 known missense c.457 p.A153S 0.591 NULL NULL - no_errors MYCT1 HGNC ENSG00000120279 111 0 0 102 7 6.42202 FBXO5 0 genome.wustl.edu 37 6 153293537 153293537 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 153293537 153293537 A C SNP FBXO5 ENST00000229758 human ensembl 74_37 -1 known missense c.962 p.F321C 0.331 NULL pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO5 HGNC ENSG00000112029 142 0 0 74 14 15.9091 MTRF1L 0 genome.wustl.edu 37 6 153312324 153312324 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 153312324 153312324 A T SNP MTRF1L ENST00000367233 human ensembl 74_37 -1 known missense c.938 p.I313N 1.000 pfam_Pep_chain_release_fac_I_II pfam_Pep_chain_release_fac_I_II,pfam_PCRF,smart_PCRF - no_errors MTRF1L HGNC ENSG00000112031 19 0 0 9 3 25 OPRM1 0 genome.wustl.edu 37 6 154360916 154360916 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 154360916 154360916 C T SNP OPRM1 ENST00000434900 human ensembl 74_37 +1 known silent c.516 p.I172 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 58 0 0 57 15 20.8333 OPRM1 0 genome.wustl.edu 37 6 154414463 154414463 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 154414463 154414463 A G SNP OPRM1 ENST00000229768 human ensembl 74_37 +1 known missense c.1223 p.Y408C 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRM1 HGNC ENSG00000112038 231 1 0.431034 215 13 5.70175 JARID2 0 genome.wustl.edu 37 6 15496890 15496890 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 15496890 15496890 A G SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.1434 p.R478 0.028 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 45 0 0 29 5 14.7059 JARID2 0 genome.wustl.edu 37 6 15497032 15497032 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 15497032 15497032 T A SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1576 p.S526T 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 33 0 0 22 2 8.33333 JARID2 0 genome.wustl.edu 37 6 15501302 15501302 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 15501302 15501302 T C SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.2110 p.Y704H 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 67 0 0 86 5 5.49451 SCAF8 0 genome.wustl.edu 37 6 155113964 155113964 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 155113964 155113964 T C SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.527 p.I176T 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 68 0 0 46 6 11.5385 JARID2 0 genome.wustl.edu 37 6 15512570 15512570 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 15512570 15512570 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known silent c.3084 p.T1028 0.910 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 127 0 0 117 13 10 SCAF8 0 genome.wustl.edu 37 6 155153655 155153655 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 155153655 155153655 G T SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.3140 p.R1047I 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 172 0 0 157 14 8.18713 DTNBP1 0 genome.wustl.edu 37 6 15523311 15523311 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 15523311 15523311 G T SNP DTNBP1 ENST00000355917 human ensembl 74_37 -1 known silent c.954 p.P318 0.147 pfam_Dysbindin pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 103 0 0 108 8 6.89655 TIAM2 0 genome.wustl.edu 37 6 155503432 155503432 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 155503432 155503432 A G SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.2780 p.D927G 0.163 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 103 0 0 88 6 6.38298 TIAM2 0 genome.wustl.edu 37 6 155577773 155577773 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 155577773 155577773 A G SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.4711 p.K1571E 0.018 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 32 0 0 30 9 23.0769 ARID1B 0 genome.wustl.edu 37 6 157495225 157495225 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 157495225 157495225 A G SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.3070 p.T1024A 0.002 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 59 0 0 47 6 11.3208 TMEM242 0 genome.wustl.edu 37 6 157714011 157714011 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 157714011 157714011 T G SNP TMEM242 ENST00000400788 human ensembl 74_37 -1 known missense c.348 p.K116N 1.000 pfam_DUF1358 pfam_DUF1358 - no_errors TMEM242 HGNC ENSG00000215712 154 0 0 124 13 9.48905 TULP4 0 genome.wustl.edu 37 6 158873219 158873219 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 158873219 158873219 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.778 p.V260I 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 123 0 0 147 8 5.16129 TULP4 0 genome.wustl.edu 37 6 158925039 158925039 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 158925039 158925039 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.4344 p.R1448 0.974 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 24 0 0 24 5 17.2414 FNDC1 0 genome.wustl.edu 37 6 159653499 159653499 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 159653499 159653499 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.1955 p.R652H 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 58 0 0 51 14 21.5385 FNDC1 0 genome.wustl.edu 37 6 159654614 159654614 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 159654614 159654614 G A SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.3070 p.A1024T 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 11 0 0 6 4 40 MRPL18 0 genome.wustl.edu 37 6 160219095 160219095 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 160219095 160219095 A T SNP MRPL18 ENST00000367034 human ensembl 74_37 +1 known silent c.483 p.L161 0.001 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC ENSG00000112110 56 0 0 26 13 33.3333 PNLDC1 0 genome.wustl.edu 37 6 160221765 160221765 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 160221765 160221765 T A SNP PNLDC1 ENST00000610273 human ensembl 74_37 +1 known missense c.5 p.F2Y 0.001 NULL pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors PNLDC1 HGNC ENSG00000146453 195 0 0 161 12 6.93642 MAS1 0 genome.wustl.edu 37 6 160328535 160328535 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 160328535 160328535 A T SNP MAS1 ENST00000252660 human ensembl 74_37 +1 known missense c.548 p.D183V 0.573 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Proto-oncogene_Mas,prints_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 119 0 0 105 10 8.69565 IGF2R 0 genome.wustl.edu 37 6 160469473 160469473 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 160469473 160469473 C T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known silent c.2412 p.V804 0.026 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 68 0 0 46 4 8 IGF2R 0 genome.wustl.edu 37 6 160482540 160482540 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 160482540 160482540 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.3268 p.A1090T 0.402 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 149 0 0 138 8 5.47945 IGF2R 0 genome.wustl.edu 37 6 160484579 160484579 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 160484579 160484579 A T SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.3803 p.D1268V 0.000 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 83 0 0 72 7 8.86076 LPAL2 0 genome.wustl.edu 37 6 160932122 160932122 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 160932122 160932122 A G SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.954 - - - no_errors LPAL2 HGNC ENSG00000213071 119 0 0 96 11 10.2804 PLG 0 genome.wustl.edu 37 6 161127481 161127481 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 161127481 161127481 C T SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.92 p.A31V 0.768 pirsf_Pept_S1A_plasmin,pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 147 0 0 121 12 9.02256 PARK2 0 genome.wustl.edu 37 6 161781224 161781224 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 161781224 161781224 T C SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known missense c.1181 p.D394G 0.448 pirsf_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 111 0 0 103 6 5.50459 GMPR 0 genome.wustl.edu 37 6 16279053 16279053 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 16279053 16279053 T C SNP GMPR ENST00000259727 human ensembl 74_37 +1 known missense c.586 p.Y196H 1.000 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 73 0 0 67 9 11.8421 ATXN1 0 genome.wustl.edu 37 6 16307007 16307007 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 16307007 16307007 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.2001 p.Q667 1.000 pfam_Ataxin-1_HBP1,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 93 0 0 86 8 8.51064 C6orf118 0 genome.wustl.edu 37 6 165715755 165715755 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 165715755 165715755 G A SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.56 p.P19L 0.005 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 102 0 0 73 28 27.7228 PDE10A 0 genome.wustl.edu 37 6 165806270 165806270 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 165806270 165806270 C T SNP PDE10A ENST00000539869 human ensembl 74_37 -1 known silent c.1521 p.K507 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 92 0 0 62 4 6.06061 MPC1 0 genome.wustl.edu 37 6 166779545 166779545 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 166779545 166779545 C T SNP MPC1 ENST00000341756 human ensembl 74_37 -1 known silent c.222 p.Q74 1.000 pfam_MPC pfam_MPC - no_errors MPC1 HGNC ENSG00000060762 72 0 0 62 5 7.46269 RPS6KA2 0 genome.wustl.edu 37 6 166902367 166902367 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 166902367 166902367 C T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known silent c.936 p.Q312 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 37 0 0 25 5 16.6667 RPS6KA2 0 genome.wustl.edu 37 6 166944731 166944731 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 166944731 166944731 G T SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known missense c.362 p.A121D 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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 140 0 0 123 10 7.5188 TTLL2 0 genome.wustl.edu 37 6 167754976 167754976 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 167754976 167754976 T C SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.1588 p.S530P 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 94 0 0 79 7 8.13953 SMOC2 0 genome.wustl.edu 37 6 168947785 168947785 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 168947785 168947785 C T SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known silent c.531 p.S177 1.000 superfamily_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 149 0 0 131 9 6.42857 SMOC2 0 genome.wustl.edu 37 6 168999591 168999591 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 168999591 168999591 G A SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.764 p.G255D 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 19 0 0 21 5 19.2308 SMOC2 0 genome.wustl.edu 37 6 169053890 169053890 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 169053890 169053890 G A SNP SMOC2 ENST00000354536 human ensembl 74_37 +1 known missense c.1300 p.D434N 0.000 NULL pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 55 0 0 45 12 21.0526 THBS2 0 genome.wustl.edu 37 6 169625300 169625300 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 169625300 169625300 C T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.2713 p.V905I 0.002 pfam_Thrombospondin_3-like_rpt pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 49 0 0 48 6 11.1111 TCTE3 0 genome.wustl.edu 37 6 170151476 170151476 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 170151476 170151476 G A SNP TCTE3 ENST00000366774 human ensembl 74_37 -1 known missense c.79 p.P27S 0.000 NULL pfam_Tctex - no_errors TCTE3 HGNC ENSG00000184786 131 0 0 107 10 8.54701 ERMARD 0 genome.wustl.edu 37 6 170176102 170176102 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 170176102 170176102 T A SNP ERMARD ENST00000366773 human ensembl 74_37 +1 known nonsense c.1461 p.Y487* 0.000 NULL NULL - no_errors ERMARD HGNC ENSG00000130023 97 0 0 57 4 6.55738 FAM120B 0 genome.wustl.edu 37 6 170627418 170627418 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 170627418 170627418 T G SNP FAM120B ENST00000537664 human ensembl 74_37 +1 known missense c.1009 p.F337V 0.986 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 113 1 0.877193 82 7 7.86517 NUP153 0 genome.wustl.edu 37 6 17626268 17626268 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 17626268 17626268 A G SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known silent c.3765 p.A1255 0.539 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 72 0 0 50 10 16.6667 NUP153 0 genome.wustl.edu 37 6 17632925 17632925 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 17632925 17632925 A G SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.2708 p.L903S 0.660 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 127 0 0 107 10 8.54701 NUP153 0 genome.wustl.edu 37 6 17637492 17637492 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 17637492 17637492 A C SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.2449 p.F817V 1.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 107 0 0 87 10 10.3093 NUP153 0 genome.wustl.edu 37 6 17637537 17637537 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 17637537 17637537 T A SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known missense c.2404 p.T802S 0.044 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 125 0 0 95 9 8.65385 KIF13A 0 genome.wustl.edu 37 6 17764724 17764724 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 17764724 17764724 T C SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.5035 p.S1679G 0.999 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 97 0 0 77 7 8.33333 NHLRC1 0 genome.wustl.edu 37 6 18122144 18122144 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 18122144 18122144 T C SNP NHLRC1 ENST00000340650 human ensembl 74_37 -1 known missense c.694 p.T232A 0.444 pfscan_NHL_repeat_subgr smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 43 0 0 46 5 9.80392 KDM1B 0 genome.wustl.edu 37 6 18217973 18217973 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 18217973 18217973 G A SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.2245 p.D749N 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 105 0 0 73 6 7.59494 RNF144B 0 genome.wustl.edu 37 6 18465249 18465249 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 18465249 18465249 G A SNP RNF144B ENST00000259939 human ensembl 74_37 +1 known missense c.863 p.C288Y 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC - no_errors RNF144B HGNC ENSG00000137393 44 0 0 34 6 15 E2F3 0 genome.wustl.edu 37 6 20483131 20483131 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 20483131 20483131 C T SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known silent c.864 p.T288 0.999 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 81 0 0 74 5 6.32911 E2F3 0 genome.wustl.edu 37 6 20490487 20490487 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 20490487 20490487 G A SNP E2F3 ENST00000346618 human ensembl 74_37 +1 known silent c.1224 p.Q408 1.000 NULL pfam_E2F_TDP - no_errors E2F3 HGNC ENSG00000112242 82 0 0 68 5 6.84932 DCDC2 0 genome.wustl.edu 37 6 24178771 24178771 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 24178771 24178771 A G SNP DCDC2 ENST00000378454 human ensembl 74_37 -1 known silent c.1113 p.G371 0.890 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2 HGNC ENSG00000146038 91 0 0 94 8 7.84314 GPLD1 0 genome.wustl.edu 37 6 24463015 24463015 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 24463015 24463015 T C SNP GPLD1 ENST00000230036 human ensembl 74_37 -1 known missense c.830 p.N277S 0.000 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 127 0 0 111 7 5.9322 FAM65B 0 genome.wustl.edu 37 6 24850864 24850864 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 24850864 24850864 T C SNP FAM65B ENST00000259698 human ensembl 74_37 -1 known silent c.759 p.T253 0.984 NULL superfamily_ARM-type_fold - no_errors FAM65B HGNC ENSG00000111913 85 0 0 60 11 15.493 LRRC16A 0 genome.wustl.edu 37 6 25600765 25600765 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 25600765 25600765 G A SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.3343 p.E1115K 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 61 0 0 56 8 12.5 HIST1H2AA 0 genome.wustl.edu 37 6 25726369 25726369 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 25726369 25726369 T C SNP HIST1H2AA ENST00000297012 human ensembl 74_37 -1 known silent c.387 p.Q129 0.025 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AA HGNC ENSG00000164508 269 0 0 231 22 8.69565 SLC17A1 0 genome.wustl.edu 37 6 25819947 25819947 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 25819947 25819947 C T SNP SLC17A1 ENST00000244527 human ensembl 74_37 -1 known nonsense c.404 p.W135* 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Pi_cotranspt - no_errors SLC17A1 HGNC ENSG00000124568 73 0 0 60 7 10.4478 TRIM38 0 genome.wustl.edu 37 6 25983804 25983804 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 25983804 25983804 T A SNP TRIM38 ENST00000349458 human ensembl 74_37 +1 known missense c.1287 p.N429K 0.000 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,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 TRIM38 HGNC ENSG00000112343 128 0 0 106 6 5.35714 HIST1H4A 0 genome.wustl.edu 37 6 26022115 26022115 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26022115 26022115 C T SNP HIST1H4A ENST00000359907 human ensembl 74_37 +1 known missense c.209 p.A70V 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4A HGNC ENSG00000196176 63 0 0 62 4 6.06061 HIST1H3C 0 genome.wustl.edu 37 6 26045888 26045888 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26045888 26045888 C T SNP HIST1H3C ENST00000540144 human ensembl 74_37 +1 known missense c.250 p.R84C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3C HGNC ENSG00000196532 56 0 0 51 15 22.7273 HIST1H1C 0 genome.wustl.edu 37 6 26056483 26056483 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26056483 26056483 A T SNP HIST1H1C ENST00000343677 human ensembl 74_37 -1 known silent c.174 p.S58 0.025 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 153 0 0 121 8 6.20155 HIST1H2BC 0 genome.wustl.edu 37 6 26123956 26123956 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26123956 26123956 G T SNP HIST1H2BC ENST00000314332 human ensembl 74_37 -1 known silent c.177 p.A59 0.998 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC ENSG00000180596 198 1 0.502513 182 19 9.45274 HIST1H4D 0 genome.wustl.edu 37 6 26189068 26189068 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26189068 26189068 G A SNP HIST1H4D ENST00000340756 human ensembl 74_37 -1 known silent c.237 p.R79 1.000 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4D HGNC ENSG00000188987 110 0 0 75 18 19.3548 HIST1H2BF 0 genome.wustl.edu 37 6 26200153 26200153 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26200153 26200153 A T SNP HIST1H2BF ENST00000359985 human ensembl 74_37 +1 known missense c.367 p.T123S 1.000 superfamily_Histone-fold,smart_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BF HGNC ENSG00000197846 75 0 0 52 6 10.3448 HIST1H2AE 0 genome.wustl.edu 37 6 26217403 26217403 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26217403 26217403 T A SNP HIST1H2AE ENST00000303910 human ensembl 74_37 +1 known silent c.201 p.A67 0.994 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AE HGNC ENSG00000168274 69 0 0 74 5 6.32911 HIST1H1D 0 genome.wustl.edu 37 6 26235016 26235016 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26235016 26235016 A G SNP HIST1H1D ENST00000244534 human ensembl 74_37 -1 known missense c.146 p.V49A 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1D HGNC ENSG00000124575 129 0 0 122 7 5.42636 BTN2A2 0 genome.wustl.edu 37 6 26392760 26392760 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26392760 26392760 A G SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known silent c.1137 p.S379 0.848 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 134 0 0 92 13 12.381 BTN2A2 0 genome.wustl.edu 37 6 26393114 26393114 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26393114 26393114 T C SNP BTN2A2 ENST00000356709 human ensembl 74_37 +1 known silent c.1491 p.P497 0.065 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN2A2 HGNC ENSG00000124508 72 0 0 63 27 30 MYLK4 0 genome.wustl.edu 37 6 2680510 2680510 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 2680510 2680510 A G SNP MYLK4 ENST00000274643 human ensembl 74_37 -1 known missense c.703 p.C235R 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MYLK4 HGNC ENSG00000145949 212 0 0 176 11 5.88235 HIST1H2BM 0 genome.wustl.edu 37 6 27782898 27782898 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 27782898 27782898 A T SNP HIST1H2BM ENST00000359465 human ensembl 74_37 +1 known missense c.77 p.D26V 1.000 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BM HGNC ENSG00000196374 193 0 0 143 8 5.29801 HIST1H1B 0 genome.wustl.edu 37 6 27834982 27834982 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 27834982 27834982 T C SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.326 p.K109R 1.000 pfam_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 191 0 0 153 20 11.5607 HIST1H1B 0 genome.wustl.edu 37 6 27835025 27835025 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 27835025 27835025 T C SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.283 p.T95A 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 191 0 0 169 18 9.62567 OR2B2 0 genome.wustl.edu 37 6 27879120 27879120 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 27879120 27879120 T G SNP OR2B2 ENST00000303324 human ensembl 74_37 -1 known silent c.978 p.T326 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2B2 HGNC ENSG00000168131 102 0 0 69 5 6.75676 ZNF165 0 genome.wustl.edu 37 6 28056987 28056987 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 28056987 28056987 C A SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known silent c.1197 p.P399 0.994 pfscan_Znf_C2H2 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 ZNF165 HGNC ENSG00000197279 108 0 0 75 8 9.63855 PGBD1 0 genome.wustl.edu 37 6 28268774 28268774 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 28268774 28268774 G T SNP PGBD1 ENST00000259883 human ensembl 74_37 +1 known missense c.1143 p.K381N 0.028 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 111 1 0.892857 90 7 7.21649 ZSCAN31 0 genome.wustl.edu 37 6 28294205 28294205 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 28294205 28294205 T C SNP ZSCAN31 ENST00000344279 human ensembl 74_37 -1 known missense c.959 p.E320G 0.999 pfscan_Znf_C2H2 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 ZSCAN31 HGNC ENSG00000235109 201 0 0 193 14 6.76329 ZKSCAN3 0 genome.wustl.edu 37 6 28327716 28327716 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 28327716 28327716 T C SNP ZKSCAN3 ENST00000252211 human ensembl 74_37 +1 known missense c.353 p.V118A 0.061 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN3 HGNC ENSG00000189298 42 0 0 39 4 9.30233 SCAND3 0 genome.wustl.edu 37 6 28554087 28554087 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 28554087 28554087 T A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.408 p.E136D 0.912 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 280 0 0 230 24 9.44882 OR2J3 0 genome.wustl.edu 37 6 29079854 29079854 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 29079854 29079854 T C SNP OR2J3 ENST00000377169 human ensembl 74_37 +1 known missense c.187 p.Y63H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J3 HGNC ENSG00000204701 221 0 0 208 17 7.55556 OR11A1 0 genome.wustl.edu 37 6 29394945 29394945 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 29394945 29394945 T C SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known silent c.474 p.G158 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 53 0 0 34 4 10.5263 SERPINB6 0 genome.wustl.edu 37 6 2954826 2954826 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 2954826 2954826 C A SNP SERPINB6 ENST00000335686 human ensembl 74_37 -1 known missense c.430 p.G144C 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB6 HGNC ENSG00000124570 107 0 0 72 6 7.69231 ZFP57 0 genome.wustl.edu 37 6 29643256 29643256 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 29643256 29643256 A G SNP ZFP57 ENST00000488757 human ensembl 74_37 -1 known missense c.259 p.F87L 0.045 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP57 HGNC ENSG00000204644 185 0 0 159 16 9.14286 RNF39 0 genome.wustl.edu 37 6 30043021 30043021 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30043021 30043021 G A SNP RNF39 ENST00000244360 human ensembl 74_37 -1 known silent c.546 p.G182 0.847 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ENSG00000204618 13 0 0 3 3 50 RNF39 0 genome.wustl.edu 37 6 30043550 30043550 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30043550 30043550 A G SNP RNF39 ENST00000244360 human ensembl 74_37 -1 known missense c.17 p.L6S 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RNF39 HGNC ENSG00000204618 61 0 0 49 16 24.6154 HLA-L 0 genome.wustl.edu 37 6 30227765 30227765 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30227765 30227765 T C SNP HLA-L ENST00000463348 human ensembl 74_37 +1 known rna NULL NULL 0.283 - - - no_errors HLA-L HGNC ENSG00000243753 22 0 0 16 3 15.7895 GNL1 0 genome.wustl.edu 37 6 30514577 30514577 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30514577 30514577 G A SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known missense c.1478 p.A493V 0.990 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 110 0 0 80 14 14.8936 GNL1 0 genome.wustl.edu 37 6 30523965 30523965 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30523965 30523965 G A SNP GNL1 ENST00000376621 human ensembl 74_37 -1 known missense c.16 p.P6S 1.000 NULL pfam_GTP_binding_domain,superfamily_P-loop_NTPase - no_errors GNL1 HGNC ENSG00000204590 46 0 0 51 6 10.5263 PPP1R10 0 genome.wustl.edu 37 6 30569986 30569986 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30569986 30569986 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.2440 p.R814C 0.883 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 111 0 0 96 34 26.1538 PPP1R10 0 genome.wustl.edu 37 6 30571905 30571905 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30571905 30571905 C T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.1388 p.C463Y 0.999 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 211 0 0 213 12 5.33333 PPP1R10 0 genome.wustl.edu 37 6 30572227 30572227 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30572227 30572227 T C SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known silent c.1164 p.Q388 1.000 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 141 0 0 111 14 11.2 MRPS18B 0 genome.wustl.edu 37 6 30587523 30587523 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30587523 30587523 T C SNP MRPS18B ENST00000259873 human ensembl 74_37 +1 known silent c.225 p.A75 1.000 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 77 0 0 81 9 10 DHX16 0 genome.wustl.edu 37 6 30630513 30630513 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30630513 30630513 A G SNP DHX16 ENST00000376442 human ensembl 74_37 -1 known missense c.1435 p.Y479H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 39 0 0 37 5 11.9048 MDC1 0 genome.wustl.edu 37 6 30671508 30671508 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30671508 30671508 T C SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.5452 p.M1818V 0.000 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 186 0 0 155 43 21.7172 MDC1 0 genome.wustl.edu 37 6 30675399 30675399 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30675399 30675399 G A SNP MDC1 ENST00000376406 human ensembl 74_37 -1 known missense c.2957 p.S986F 0.707 NULL pfam_FHA_dom,superfamily_BRCT_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_BRCT_dom,pfscan_FHA_dom - no_errors MDC1 HGNC ENSG00000137337 92 0 0 104 6 5.45455 VARS2 0 genome.wustl.edu 37 6 30890980 30890980 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30890980 30890980 A T SNP VARS2 ENST00000541562 human ensembl 74_37 +1 known missense c.2375 p.E792V 0.949 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS2 HGNC ENSG00000137411 136 0 0 119 9 7.03125 CCHCR1 0 genome.wustl.edu 37 6 31116476 31116476 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31116476 31116476 G A SNP CCHCR1 ENST00000396268 human ensembl 74_37 -1 known silent c.1392 p.S464 0.916 pfam_HCR pfam_HCR - no_errors CCHCR1 HGNC ENSG00000204536 81 0 0 81 9 10 TCF19 0 genome.wustl.edu 37 6 31130321 31130321 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31130321 31130321 G A SNP TCF19 ENST00000376255 human ensembl 74_37 +1 known missense c.865 p.G289R 0.111 superfamily_Znf_FYVE_PHD pfam_FHA_dom,pfam_Znf_PHD-finger,superfamily_SMAD_FHA_domain,superfamily_Znf_FYVE_PHD,smart_FHA_dom,smart_Znf_PHD,pfscan_FHA_dom - no_errors TCF19 HGNC ENSG00000137310 65 0 0 61 16 20.7792 ATP6V1G2 0 genome.wustl.edu 37 6 31514301 31514301 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31514301 31514301 C T SNP ATP6V1G2 ENST00000303892 human ensembl 74_37 -1 known silent c.36 p.L12 1.000 tigrfam_V-ATPase_G tigrfam_V-ATPase_G - no_errors ATP6V1G2 HGNC ENSG00000213760 62 0 0 33 4 10.8108 LTA 0 genome.wustl.edu 37 6 31541079 31541079 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31541079 31541079 C T SNP LTA ENST00000418386 human ensembl 74_37 +1 known missense c.227 p.S76L 0.011 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_beta,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_beta,prints_TNF - no_errors LTA HGNC ENSG00000226979 41 0 0 43 18 29.5082 PRRC2A 0 genome.wustl.edu 37 6 31600367 31600367 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31600367 31600367 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.3917 p.S1306F 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 99 0 0 74 19 20.4301 PRRC2A 0 genome.wustl.edu 37 6 31602965 31602965 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31602965 31602965 G T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known missense c.5217 p.Q1739H 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 50 0 0 59 7 10.6061 BAG6 0 genome.wustl.edu 37 6 31611972 31611972 + Splice_Site SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31611972 31611972 C A SNP BAG6 ENST00000404765 human ensembl 74_37 -1 known splice_site c.1556-1 e12-1 1.000 - - - no_errors BAG6 HGNC ENSG00000204463 22 0 0 20 3 13.0435 C6orf47 0 genome.wustl.edu 37 6 31627032 31627032 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31627032 31627032 C G SNP C6orf47 ENST00000375911 human ensembl 74_37 -1 known silent c.693 p.G231 0.999 NULL NULL - no_errors C6orf47 HGNC ENSG00000204439 38 0 0 39 8 17.0213 VARS 0 genome.wustl.edu 37 6 31747231 31747231 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31747231 31747231 T A SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.3371 p.D1124V 0.999 pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 42 0 0 32 7 17.9487 CFB 0 genome.wustl.edu 37 6 31914250 31914250 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31914250 31914250 C T SNP CFB ENST00000556679 human ensembl 74_37 +1 known silent c.1671 p.G557 0.851 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Trypsin-like_Pept_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 50 0 0 49 5 9.25926 C4A 0 genome.wustl.edu 37 6 31963556 31963556 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31963556 31963556 G A SNP C4A ENST00000428956 human ensembl 74_37 +1 known missense c.3215 p.R1072Q 0.920 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4A HGNC ENSG00000244731 49 0 0 50 9 15.2542 C4A 0 genome.wustl.edu 37 6 31963570 31963570 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31963570 31963570 T C SNP C4A ENST00000428956 human ensembl 74_37 +1 known missense c.3229 p.W1077R 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_comp_syst,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C4A HGNC ENSG00000244731 46 0 0 45 9 16.6667 TNXB 0 genome.wustl.edu 37 6 32017118 32017118 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32017118 32017118 T C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9680 p.K3227R 0.821 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 38 0 0 45 3 6.25 TNXB 0 genome.wustl.edu 37 6 32017121 32017121 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32017121 32017121 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9677 p.R3226H 0.176 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 36 0 0 41 3 6.81818 TNXB 0 genome.wustl.edu 37 6 32021419 32021419 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32021419 32021419 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.8531 p.R2844H 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 67 0 0 69 7 9.21053 TNXB 0 genome.wustl.edu 37 6 32038011 32038011 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32038011 32038011 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5171 p.R1724H 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 31 0 0 25 2 7.40741 TNXB 0 genome.wustl.edu 37 6 32046840 32046840 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32046840 32046840 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.4345 p.V1449M 0.058 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 30 0 0 41 4 8.88889 TNXB 0 genome.wustl.edu 37 6 32064256 32064256 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32064256 32064256 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.1374 p.G458 0.055 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 20 0 0 17 3 15 TNXB 0 genome.wustl.edu 37 6 32065914 32065914 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32065914 32065914 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.62 p.A21V 0.864 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 43 0 0 36 4 10 PBX2 0 genome.wustl.edu 37 6 32155497 32155497 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32155497 32155497 T C SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.797 p.H266R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 24 0 0 21 6 22.2222 HLA-DRA 0 genome.wustl.edu 37 6 32410334 32410334 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32410334 32410334 G A SNP HLA-DRA ENST00000395388 human ensembl 74_37 +1 known silent c.192 p.K64 0.053 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DRA HGNC ENSG00000204287 140 0 0 119 12 9.16031 HLA-DOB 0 genome.wustl.edu 37 6 32782325 32782325 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32782325 32782325 T A SNP HLA-DOB ENST00000438763 human ensembl 74_37 -1 known missense c.415 p.N139Y 0.945 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOB HGNC ENSG00000241106 163 0 0 143 16 10.0629 TAP2 0 genome.wustl.edu 37 6 32798213 32798213 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32798213 32798213 A G SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.1466 p.L489P 0.990 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 20 0 0 27 2 6.89655 TAP2 0 genome.wustl.edu 37 6 32800520 32800520 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32800520 32800520 G A SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.1027 p.R343C 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 77 0 0 74 4 5.12821 SLC22A23 0 genome.wustl.edu 37 6 3287169 3287169 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 3287169 3287169 G A SNP SLC22A23 ENST00000406686 human ensembl 74_37 -1 known silent c.1470 p.L490 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 20 0 0 20 2 9.09091 HLA-DMB 0 genome.wustl.edu 37 6 32906545 32906545 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32906545 32906545 T C SNP HLA-DMB ENST00000418107 human ensembl 74_37 -1 known missense c.253 p.T85A 0.000 pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N pfam_Ig_C1-set,pfam_MHC_II_b_N,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-DMB HGNC ENSG00000242574 98 0 0 115 7 5.7377 BRD2 0 genome.wustl.edu 37 6 32947622 32947622 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32947622 32947622 C G SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.1964 p.T655R 0.984 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 27 0 0 35 3 7.89474 HLA-DOA 0 genome.wustl.edu 37 6 32975164 32975164 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32975164 32975164 G A SNP HLA-DOA ENST00000229829 human ensembl 74_37 -1 known silent c.537 p.F179 0.262 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 131 0 0 111 6 5.12821 COL11A2 0 genome.wustl.edu 37 6 33133401 33133401 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33133401 33133401 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.4675 p.R1559W 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C 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 74 0 0 59 24 28.9157 COL11A2 0 genome.wustl.edu 37 6 33133486 33133486 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33133486 33133486 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known silent c.4590 p.T1530 0.081 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 70 0 0 64 14 17.9487 RXRB 0 genome.wustl.edu 37 6 33164069 33164069 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33164069 33164069 G A SNP RXRB ENST00000413614 human ensembl 74_37 -1 known missense c.847 p.L283F 0.007 NULL pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors RXRB HGNC ENSG00000204231 16 0 0 20 6 23.0769 RING1 0 genome.wustl.edu 37 6 33177443 33177443 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33177443 33177443 G A SNP RING1 ENST00000374656 human ensembl 74_37 +1 known missense c.119 p.R40Q 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 110 0 0 65 30 31.5789 B3GALT4 0 genome.wustl.edu 37 6 33245430 33245430 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33245430 33245430 C T SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known silent c.234 p.C78 0.836 NULL pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 122 0 0 114 19 14.2857 B3GALT4 0 genome.wustl.edu 37 6 33245707 33245707 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33245707 33245707 G A SNP B3GALT4 ENST00000451237 human ensembl 74_37 +1 known missense c.511 p.V171I 0.772 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT4 HGNC ENSG00000235863 86 0 0 67 22 24.7191 WDR46 0 genome.wustl.edu 37 6 33247573 33247573 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33247573 33247573 C T SNP WDR46 ENST00000374617 human ensembl 74_37 -1 known missense c.1588 p.E530K 1.000 NULL pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR46 HGNC ENSG00000227057 50 0 0 39 9 18.75 KIFC1 0 genome.wustl.edu 37 6 33365928 33365928 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33365928 33365928 C T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known silent c.135 p.G45 0.925 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 38 0 0 41 5 10.8696 DUSP22 0 genome.wustl.edu 37 6 335142 335142 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 335142 335142 C T SNP DUSP22 ENST00000419235 human ensembl 74_37 +1 known missense c.167 p.A56V 0.989 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP22 HGNC ENSG00000112679 108 0 0 68 10 12.8205 ITPR3 0 genome.wustl.edu 37 6 33641390 33641390 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33641390 33641390 A T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.2951 p.D984V 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 186 0 0 190 18 8.65385 ITPR3 0 genome.wustl.edu 37 6 33648175 33648175 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33648175 33648175 T C SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.4294 p.Y1432H 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 49 0 0 54 8 12.9032 LEMD2 0 genome.wustl.edu 37 6 33746099 33746099 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33746099 33746099 G A SNP LEMD2 ENST00000293760 human ensembl 74_37 -1 known missense c.1076 p.A359V 0.429 pfam_Inner-Nucl-membr_MAN1 pfam_Inner-Nucl-membr_MAN1,pfam_LEM_dom,superfamily_LEM/LEM-like_dom,smart_LEM_dom,pfscan_LEM_dom - no_errors LEMD2 HGNC ENSG00000161904 91 0 0 103 6 5.50459 PACSIN1 0 genome.wustl.edu 37 6 34495114 34495114 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 34495114 34495114 G A SNP PACSIN1 ENST00000244458 human ensembl 74_37 +1 known silent c.69 p.G23 1.000 pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN1 HGNC ENSG00000124507 16 0 0 9 4 30.7692 UHRF1BP1 0 genome.wustl.edu 37 6 34826075 34826075 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 34826075 34826075 T C SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.1942 p.Y648H 0.424 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 148 0 0 120 9 6.97674 ANKS1A 0 genome.wustl.edu 37 6 34935065 34935065 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 34935065 34935065 C T SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.247 p.P83S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 175 0 0 125 9 6.71642 ANKS1A 0 genome.wustl.edu 37 6 34985579 34985579 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 34985579 34985579 A G SNP ANKS1A ENST00000360359 human ensembl 74_37 +1 known missense c.1753 p.T585A 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1A HGNC ENSG00000064999 136 0 0 135 10 6.89655 SRPK1 0 genome.wustl.edu 37 6 35803233 35803233 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 35803233 35803233 A T SNP SRPK1 ENST00000373825 human ensembl 74_37 -1 known missense c.1816 p.W606R 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 SRPK1 HGNC ENSG00000096063 36 0 0 26 2 7.14286 STK38 0 genome.wustl.edu 37 6 36465624 36465624 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 36465624 36465624 C T SNP STK38 ENST00000229812 human ensembl 74_37 -1 known missense c.1105 p.G369R 1.000 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 85 0 0 43 15 25.8621 FAM50B 0 genome.wustl.edu 37 6 3850883 3850883 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 3850883 3850883 G T SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.838 p.A280S 1.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 44 0 0 49 8 14.0351 BTBD9 0 genome.wustl.edu 37 6 38560367 38560367 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38560367 38560367 A G SNP BTBD9 ENST00000403056 human ensembl 74_37 -1 known missense c.799 p.Y267H 1.000 NULL pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 126 0 0 94 6 6 DNAH8 0 genome.wustl.edu 37 6 38690609 38690609 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38690609 38690609 C T SNP DNAH8 ENST00000449981 human ensembl 74_37 +1 known silent c.24 p.G8 0.000 NULL pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 33 0 0 22 7 24.1379 DNAH8 0 genome.wustl.edu 37 6 38738194 38738194 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38738194 38738194 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.972 p.C324 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 64 0 0 44 4 8.33333 DNAH8 0 genome.wustl.edu 37 6 38813476 38813476 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38813476 38813476 G T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known nonsense c.4321 p.G1441* 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 83 0 0 82 7 7.86517 DNAH8 0 genome.wustl.edu 37 6 38858521 38858521 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38858521 38858521 T C SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.7916 p.L2639P 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 123 0 0 89 13 12.7451 DNAH8 0 genome.wustl.edu 37 6 38951995 38951995 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38951995 38951995 A G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.12314 p.N4105S 0.874 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 63 0 0 53 3 5.35714 KIF6 0 genome.wustl.edu 37 6 39563911 39563911 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 39563911 39563911 C A SNP KIF6 ENST00000287152 human ensembl 74_37 -1 known missense c.765 p.E255D 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 81 0 0 58 6 9.375 MOCS1 0 genome.wustl.edu 37 6 39877611 39877611 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 39877611 39877611 G A SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.1070 p.A357V 0.987 pfam_Mob_synth_C,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 84 0 0 67 8 10.6667 MOCS1 0 genome.wustl.edu 37 6 39880039 39880039 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 39880039 39880039 C T SNP MOCS1 ENST00000340692 human ensembl 74_37 -1 known missense c.950 p.R317H 1.000 pfam_Mob_synth_C,tigrfam_MoaA pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C - no_errors MOCS1 HGNC ENSG00000124615 116 0 0 123 7 5.38462 PRPF4B 0 genome.wustl.edu 37 6 4031897 4031897 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 4031897 4031897 A G SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known missense c.146 p.K49R 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 55 0 0 33 3 8.33333 PRPF4B 0 genome.wustl.edu 37 6 4032892 4032892 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 4032892 4032892 T C SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known missense c.1141 p.S381P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 113 1 0.877193 104 20 16.129 IRF4 0 genome.wustl.edu 37 6 405036 405036 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 405036 405036 A G SNP IRF4 ENST00000380956 human ensembl 74_37 +1 known missense c.1118 p.H373R 1.000 pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF4 HGNC ENSG00000137265 60 0 0 55 4 6.77966 PRPF4B 0 genome.wustl.edu 37 6 4053072 4053072 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 4053072 4053072 A G SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known missense c.2431 p.I811V 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 PRPF4B HGNC ENSG00000112739 49 0 0 34 3 8.10811 UNC5CL 0 genome.wustl.edu 37 6 40996189 40996189 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 40996189 40996189 T A SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known missense c.1480 p.T494S 0.000 pfscan_Death_domain pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 41 0 0 44 4 8.33333 MDFI 0 genome.wustl.edu 37 6 41613964 41613964 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 41613964 41613964 C A SNP MDFI ENST00000230321 human ensembl 74_37 +1 known silent c.177 p.T59 0.129 NULL NULL - no_errors MDFI HGNC ENSG00000112559 45 0 0 52 5 8.77193 MDFI 0 genome.wustl.edu 37 6 41617445 41617445 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 41617445 41617445 G T SNP MDFI ENST00000230321 human ensembl 74_37 +1 known silent c.348 p.A116 0.003 NULL NULL - no_errors MDFI HGNC ENSG00000112559 156 1 0.636943 154 22 12.5 FRS3 0 genome.wustl.edu 37 6 41738995 41738995 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 41738995 41738995 C T SNP FRS3 ENST00000259748 human ensembl 74_37 -1 known missense c.841 p.A281T 0.872 NULL pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors FRS3 HGNC ENSG00000137218 43 0 0 54 3 5.26316 USP49 0 genome.wustl.edu 37 6 41773764 41773764 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 41773764 41773764 C T SNP USP49 ENST00000373009 human ensembl 74_37 -1 known missense c.958 p.D320N 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 82 0 0 66 11 14.2857 TRERF1 0 genome.wustl.edu 37 6 42225919 42225919 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 42225919 42225919 C T SNP TRERF1 ENST00000541110 human ensembl 74_37 -1 known missense c.2350 p.V784M 0.069 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 68 0 0 62 6 8.82353 UBR2 0 genome.wustl.edu 37 6 42562040 42562040 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 42562040 42562040 G T SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known nonsense c.529 p.E177* 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 115 0 0 113 9 7.37705 UBR2 0 genome.wustl.edu 37 6 42603281 42603281 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 42603281 42603281 A G SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known silent c.1671 p.S557 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 163 0 0 115 9 7.25806 UBR2 0 genome.wustl.edu 37 6 42641876 42641876 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 42641876 42641876 A C SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.4196 p.N1399T 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 184 0 0 104 22 17.4603 UBR2 0 genome.wustl.edu 37 6 42647508 42647508 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 42647508 42647508 A G SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known silent c.4656 p.L1552 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 78 0 0 67 4 5.6338 CUL7 0 genome.wustl.edu 37 6 43020464 43020464 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43020464 43020464 A G SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known silent c.219 p.Y73 0.007 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 53 0 0 54 4 6.89655 CUL9 0 genome.wustl.edu 37 6 43155142 43155142 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43155142 43155142 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.1546 p.P516S 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 122 0 0 111 9 7.5 CUL9 0 genome.wustl.edu 37 6 43155582 43155582 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43155582 43155582 G A SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.1713 p.K571 1.000 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 78 0 0 61 5 7.57576 CUL9 0 genome.wustl.edu 37 6 43168555 43168555 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43168555 43168555 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.3630 p.H1210 1.000 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 64 0 0 69 9 11.5385 CUL9 0 genome.wustl.edu 37 6 43172842 43172842 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43172842 43172842 A G SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.4621 p.T1541A 0.999 pfam_Cullin_N,superfamily_Cullin_homology pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 52 0 0 53 7 11.6667 ABCC10 0 genome.wustl.edu 37 6 43406490 43406490 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43406490 43406490 A G SNP ABCC10 ENST00000372530 human ensembl 74_37 +1 known missense c.2084 p.Y695C 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC10 HGNC ENSG00000124574 91 0 0 92 10 9.80392 DLK2 0 genome.wustl.edu 37 6 43418614 43418614 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43418614 43418614 A G SNP DLK2 ENST00000357338 human ensembl 74_37 -1 known missense c.815 p.V272A 0.000 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK2 HGNC ENSG00000171462 68 0 0 79 6 7.05882 POLR1C 0 genome.wustl.edu 37 6 43488739 43488739 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43488739 43488739 A T SNP POLR1C ENST00000372389 human ensembl 74_37 +1 known missense c.875 p.K292M 1.000 pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR1C HGNC ENSG00000171453 109 0 0 100 6 5.66038 XPO5 0 genome.wustl.edu 37 6 43541338 43541338 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43541338 43541338 A T SNP XPO5 ENST00000265351 human ensembl 74_37 -1 known missense c.106 p.F36I 1.000 superfamily_ARM-type_fold,smart_Importin-beta_N pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPO5 HGNC ENSG00000124571 51 0 0 30 4 11.7647 POLH 0 genome.wustl.edu 37 6 43581998 43581998 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43581998 43581998 G T SNP POLH ENST00000372236 human ensembl 74_37 +1 known missense c.1846 p.V616L 0.000 pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 130 0 0 88 28 24.1379 TMEM63B 0 genome.wustl.edu 37 6 44121530 44121530 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 44121530 44121530 C T SNP TMEM63B ENST00000259746 human ensembl 74_37 +1 known missense c.2060 p.A687V 0.998 pfam_DUF221 pfam_DUF221 - no_errors TMEM63B HGNC ENSG00000137216 70 0 0 70 16 18.6047 HSP90AB1 0 genome.wustl.edu 37 6 44216456 44216456 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 44216456 44216456 T C SNP HSP90AB1 ENST00000353801 human ensembl 74_37 +1 known silent c.90 p.N30 1.000 superfamily_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors HSP90AB1 HGNC ENSG00000096384 239 1 0.416667 159 22 12.1547 SLC35B2 0 genome.wustl.edu 37 6 44222795 44222795 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 44222795 44222795 C T SNP SLC35B2 ENST00000393812 human ensembl 74_37 -1 known missense c.947 p.G316D 1.000 pfam_UAA,pfam_DMT pfam_UAA,pfam_DMT - no_errors SLC35B2 HGNC ENSG00000157593 43 0 0 59 4 6.34921 AARS2 0 genome.wustl.edu 37 6 44271037 44271037 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 44271037 44271037 G A SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.2131 p.R711C 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS2 HGNC ENSG00000124608 39 0 0 44 4 8.33333 SPATS1 0 genome.wustl.edu 37 6 44320601 44320601 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 44320601 44320601 C A SNP SPATS1 ENST00000288390 human ensembl 74_37 +1 known missense c.278 p.A93D 0.001 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 66 0 0 48 7 12.7273 CDC5L 0 genome.wustl.edu 37 6 44371587 44371587 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 44371587 44371587 C T SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.581 p.A194V 1.000 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 94 0 0 74 11 12.9412 CLIC5 0 genome.wustl.edu 37 6 45917038 45917038 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 45917038 45917038 A T SNP CLIC5 ENST00000185206 human ensembl 74_37 -1 known missense c.731 p.V244D 1.000 superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC ENSG00000112782 171 1 0.581395 155 11 6.62651 ENPP5 0 genome.wustl.edu 37 6 46129477 46129477 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 46129477 46129477 A T SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known silent c.1020 p.G340 0.918 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 316 0 0 267 17 5.98592 TDRD6 0 genome.wustl.edu 37 6 46658994 46658994 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 46658994 46658994 G T SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.3129 p.K1043N 0.336 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 120 0 0 105 9 7.89474 GPR116 0 genome.wustl.edu 37 6 46851907 46851907 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 46851907 46851907 C T SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.430 p.V144I 0.000 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 122 0 0 101 25 19.8413 GPR110 0 genome.wustl.edu 37 6 46977420 46977420 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 46977420 46977420 A G SNP GPR110 ENST00000371253 human ensembl 74_37 -1 known missense c.1751 p.V584A 0.002 pfam_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC ENSG00000153292 112 0 0 85 11 11.4583 TNFRSF21 0 genome.wustl.edu 37 6 47254265 47254265 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 47254265 47254265 G A SNP TNFRSF21 ENST00000296861 human ensembl 74_37 -1 known missense c.163 p.R55C 1.000 smart_TNFR/NGFR_Cys_rich_reg pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_21 - no_errors TNFRSF21 HGNC ENSG00000146072 69 0 0 57 4 6.55738 GPR115 0 genome.wustl.edu 37 6 47675983 47675983 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 47675983 47675983 T C SNP GPR115 ENST00000371220 human ensembl 74_37 +1 known silent c.288 p.P96 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 49 0 0 32 3 8.57143 EXOC2 0 genome.wustl.edu 37 6 486729 486729 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 486729 486729 C T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.2717 p.S906N 0.982 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 150 0 0 75 22 22.6804 CDYL 0 genome.wustl.edu 37 6 4892095 4892095 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 4892095 4892095 G A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.335 p.R112H 0.998 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 83 0 0 47 6 11.3208 CRISP2 0 genome.wustl.edu 37 6 49676859 49676859 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 49676859 49676859 T C SNP CRISP2 ENST00000339139 human ensembl 74_37 -1 known silent c.51 p.L17 0.041 NULL pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP2 HGNC ENSG00000124490 93 0 0 81 7 7.95455 TFAP2D 0 genome.wustl.edu 37 6 50681799 50681799 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 50681799 50681799 G A SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known missense c.31 p.D11N 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 80 0 0 73 8 9.87654 TFAP2B 0 genome.wustl.edu 37 6 50796364 50796364 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 50796364 50796364 T A SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known missense c.600 p.N200K 1.000 prints_TF_AP2_beta pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 140 0 0 90 9 9.09091 PKHD1 0 genome.wustl.edu 37 6 51619589 51619589 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 51619589 51619589 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known silent c.8790 p.R2930 0.846 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 101 0 0 64 4 5.88235 PKHD1 0 genome.wustl.edu 37 6 51897950 51897950 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 51897950 51897950 C T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.3242 p.R1081H 0.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT,smart_PbH1 pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 78 0 0 54 6 10 ELOVL5 0 genome.wustl.edu 37 6 53134010 53134010 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 53134010 53134010 C A SNP ELOVL5 ENST00000541407 human ensembl 74_37 -1 known missense c.896 p.G299V 0.999 NULL pfam_GNS1_SUR4 - no_errors ELOVL5 HGNC ENSG00000012660 128 0 0 82 15 15.4639 EXOC2 0 genome.wustl.edu 37 6 532476 532476 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 532476 532476 A T SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known silent c.2373 p.P791 0.996 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 120 0 0 84 10 10.6383 KLHL31 0 genome.wustl.edu 37 6 53519830 53519830 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 53519830 53519830 T G SNP KLHL31 ENST00000370905 human ensembl 74_37 -1 known missense c.241 p.T81P 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 124 0 0 93 10 9.70874 LRRC1 0 genome.wustl.edu 37 6 53784454 53784454 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 53784454 53784454 A C SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.1265 p.E422A 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 129 0 0 97 7 6.73077 MLIP 0 genome.wustl.edu 37 6 53989479 53989479 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 53989479 53989479 G A SNP MLIP ENST00000274897 human ensembl 74_37 +1 known missense c.428 p.S143N 0.217 NULL NULL - no_errors MLIP HGNC ENSG00000146147 99 0 0 76 9 10.5882 FAM83B 0 genome.wustl.edu 37 6 54806068 54806068 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 54806068 54806068 T G SNP FAM83B ENST00000306858 human ensembl 74_37 +1 known missense c.2299 p.F767V 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 114 0 0 65 7 9.72222 FARS2 0 genome.wustl.edu 37 6 5613496 5613496 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 5613496 5613496 C T SNP FARS2 ENST00000274680 human ensembl 74_37 +1 known missense c.1160 p.T387I 0.951 pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,tigrfam_Phe-tRNA-synth_IIc_mito pfam_Phenylalanyl-tRNA_Synthase,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_mito - no_errors FARS2 HGNC ENSG00000145982 101 0 0 89 5 5.31915 DST 0 genome.wustl.edu 37 6 56354379 56354379 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 56354379 56354379 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.20693 p.E6898G 1.000 pfam_Spectrin_repeat,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 221 0 0 123 46 27.2189 DST 0 genome.wustl.edu 37 6 56417167 56417167 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 56417167 56417167 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.16330 p.K5444E 1.000 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 112 0 0 72 10 12.1951 DST 0 genome.wustl.edu 37 6 56437713 56437713 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 56437713 56437713 A G SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.13293 p.S4431 0.973 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 62 0 0 33 3 8.33333 DST 0 genome.wustl.edu 37 6 56483403 56483403 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 56483403 56483403 T A SNP DST ENST00000370765 human ensembl 74_37 -1 known missense c.5429 p.Y1810F 0.941 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 198 0 0 145 12 7.64331 DST 0 genome.wustl.edu 37 6 56819348 56819348 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 56819348 56819348 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.38 p.Y13C 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 37 0 0 37 3 7.5 BEND6 0 genome.wustl.edu 37 6 56880075 56880075 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 56880075 56880075 G A SNP BEND6 ENST00000370746 human ensembl 74_37 +1 known missense c.443 p.C148Y 0.376 NULL pfam_BEN_domain - no_errors BEND6 HGNC ENSG00000151917 126 0 0 78 9 10.3448 KIAA1586 0 genome.wustl.edu 37 6 56918985 56918985 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 56918985 56918985 C A SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.1688 p.A563D 0.987 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 47 0 0 30 3 9.09091 ZNF451 0 genome.wustl.edu 37 6 57015643 57015643 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 57015643 57015643 T C SNP ZNF451 ENST00000370706 human ensembl 74_37 +1 known missense c.2735 p.F912S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ENSG00000112200 137 0 0 137 13 8.66667 EXOC2 0 genome.wustl.edu 37 6 592505 592505 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 592505 592505 G A SNP EXOC2 ENST00000230449 human ensembl 74_37 -1 known missense c.1156 p.H386Y 1.000 superfamily_Cullin_repeat-like_dom pfam_IPT,superfamily_Ig_E-set,superfamily_Cullin_repeat-like_dom - no_errors EXOC2 HGNC ENSG00000112685 90 0 0 59 4 6.34921 LGSN 0 genome.wustl.edu 37 6 63990621 63990621 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 63990621 63990621 C T SNP LGSN ENST00000370657 human ensembl 74_37 -1 known missense c.835 p.A279T 1.000 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 70 0 0 50 4 7.40741 LGSN 0 genome.wustl.edu 37 6 63995646 63995646 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 63995646 63995646 T C SNP LGSN ENST00000370657 human ensembl 74_37 -1 known missense c.176 p.D59G 0.146 NULL pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors LGSN HGNC ENSG00000146166 50 0 0 34 3 8.10811 PTP4A1 0 genome.wustl.edu 37 6 64286857 64286857 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 64286857 64286857 T A SNP PTP4A1 ENST00000370651 human ensembl 74_37 +1 known missense c.72 p.N24K 0.999 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Dual-sp_phosphatase_cat-dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTP4A1 HGNC ENSG00000112245 92 0 0 61 4 6.15385 PHF3 0 genome.wustl.edu 37 6 64422823 64422823 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 64422823 64422823 T A SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.5339 p.I1780N 0.577 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 99 0 0 100 9 8.25688 EYS 0 genome.wustl.edu 37 6 66115115 66115115 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 66115115 66115115 A G SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.1008 p.F336 0.003 smart_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 184 0 0 119 7 5.55556 BAI3 0 genome.wustl.edu 37 6 69703697 69703697 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 69703697 69703697 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.1772 p.A591V 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 332 2 0.598802 172 49 22.1719 BAI3 0 genome.wustl.edu 37 6 69758078 69758078 + Silent SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 69758078 69758078 G C SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.2109 p.V703 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 128 0 0 77 8 9.41176 BAI3 0 genome.wustl.edu 37 6 70064145 70064145 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 70064145 70064145 C T SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.3480 p.C1160 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 146 0 0 118 9 7.08661 LMBRD1 0 genome.wustl.edu 37 6 70462228 70462228 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 70462228 70462228 A G SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.328 p.F110L 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 91 0 0 59 4 6.34921 LMBRD1 0 genome.wustl.edu 37 6 70500343 70500343 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 70500343 70500343 T A SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known missense c.91 p.I31L 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 79 0 0 47 3 6 COL19A1 0 genome.wustl.edu 37 6 70744135 70744135 + Splice_Site SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 70744135 70744135 A C SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known splice_site c.1081-2 e12-2 0.980 - - - no_errors COL19A1 HGNC ENSG00000082293 88 0 0 59 5 7.8125 OGFRL1 0 genome.wustl.edu 37 6 72006048 72006048 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 72006048 72006048 A G SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known silent c.429 p.K143 0.997 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 121 0 0 77 6 7.22892 RIMS1 0 genome.wustl.edu 37 6 72960976 72960976 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 72960976 72960976 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.2603 p.Q868R 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 25 0 0 15 3 16.6667 CAGE1 0 genome.wustl.edu 37 6 7374252 7374252 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 7374252 7374252 G A SNP CAGE1 ENST00000338150 human ensembl 74_37 -1 known missense c.800 p.T267I 0.001 NULL NULL - no_errors CAGE1 HGNC ENSG00000164304 172 0 0 151 11 6.79012 KCNQ5 0 genome.wustl.edu 37 6 73904299 73904299 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 73904299 73904299 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.1991 p.T664I 0.999 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 109 0 0 96 14 12.7273 KCNQ5 0 genome.wustl.edu 37 6 73904338 73904338 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 73904338 73904338 C T SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2030 p.S677L 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 131 0 0 89 28 23.9316 KCNQ5 0 genome.wustl.edu 37 6 73904905 73904905 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 73904905 73904905 G A SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.2597 p.G866D 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 80 0 0 53 6 10.1695 MTO1 0 genome.wustl.edu 37 6 74210336 74210336 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 74210336 74210336 G A SNP MTO1 ENST00000415954 human ensembl 74_37 +1 known missense c.2077 p.A693T 1.000 NULL pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC ENSG00000135297 115 0 0 51 19 27.1429 CD109 0 genome.wustl.edu 37 6 74476735 74476735 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 74476735 74476735 T C SNP CD109 ENST00000287097 human ensembl 74_37 +1 known splice_site c.1497+2 e13+2 1.000 - - - no_errors CD109 HGNC ENSG00000156535 89 0 0 60 9 13.0435 CD109 0 genome.wustl.edu 37 6 74481262 74481262 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 74481262 74481262 T C SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.1785 p.S595 1.000 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 124 0 0 69 8 10.3896 DSP 0 genome.wustl.edu 37 6 7571730 7571730 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 7571730 7571730 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.1816 p.R606W 0.984 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 205 0 0 187 13 6.5 DSP 0 genome.wustl.edu 37 6 7580889 7580889 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 7580889 7580889 T C SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.4466 p.L1489P 0.478 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 90 0 0 71 13 15.4762 COL12A1 0 genome.wustl.edu 37 6 75827138 75827138 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 75827138 75827138 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.7479 p.E2493 0.993 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 103 0 0 85 7 7.6087 DSP 0 genome.wustl.edu 37 6 7584584 7584584 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 7584584 7584584 C T SNP DSP ENST00000379802 human ensembl 74_37 +1 known silent c.7089 p.H2363 0.129 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 89 0 0 53 16 23.1884 COL12A1 0 genome.wustl.edu 37 6 75853014 75853014 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 75853014 75853014 C T SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.4781 p.R1594H 0.651 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 126 0 0 100 7 6.54206 COL12A1 0 genome.wustl.edu 37 6 75898176 75898176 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 75898176 75898176 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.899 p.A300V 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 118 0 0 97 10 9.34579 SNRNP48 0 genome.wustl.edu 37 6 7601735 7601735 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 7601735 7601735 C A SNP SNRNP48 ENST00000342415 human ensembl 74_37 +1 known missense c.573 p.D191E 1.000 NULL pfam_TRM13/UPF0224_CHHC_Znf_dom - no_errors SNRNP48 HGNC ENSG00000168566 115 0 0 70 4 5.40541 FILIP1 0 genome.wustl.edu 37 6 76023662 76023662 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 76023662 76023662 A G SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.1886 p.I629T 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 360 0 0 233 28 10.728 MYO6 0 genome.wustl.edu 37 6 76545675 76545675 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 76545675 76545675 T C SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known splice_site c.553+2 e6+2 1.000 - - - no_errors MYO6 HGNC ENSG00000196586 95 0 0 53 4 7.01754 MYO6 0 genome.wustl.edu 37 6 76617407 76617407 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 76617407 76617407 A G SNP MYO6 ENST00000369981 human ensembl 74_37 +1 known missense c.3292 p.T1098A 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 83 0 0 40 5 11.1111 IMPG1 0 genome.wustl.edu 37 6 76657071 76657071 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 76657071 76657071 G A SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known silent c.2004 p.L668 0.002 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 79 0 0 62 11 15.0685 IMPG1 0 genome.wustl.edu 37 6 76715197 76715197 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 76715197 76715197 T G SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.942 p.E314D 0.085 pfam_SEA_dom,smart_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 132 0 0 114 10 8.06452 IMPG1 0 genome.wustl.edu 37 6 76734953 76734953 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 76734953 76734953 T C SNP IMPG1 ENST00000369950 human ensembl 74_37 -1 known missense c.520 p.K174E 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors IMPG1 HGNC ENSG00000112706 151 0 0 64 12 15.7895 BCKDHB 0 genome.wustl.edu 37 6 80816557 80816557 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 80816557 80816557 G A SNP BCKDHB ENST00000320393 human ensembl 74_37 +1 known silent c.147 p.R49 0.999 NULL pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors BCKDHB HGNC ENSG00000083123 14 0 0 10 3 23.0769 IBTK 0 genome.wustl.edu 37 6 82930339 82930339 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 82930339 82930339 T A SNP IBTK ENST00000306270 human ensembl 74_37 -1 known missense c.1216 p.I406F 1.000 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 130 0 0 104 9 7.9646 UBE3D 0 genome.wustl.edu 37 6 83732251 83732251 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 83732251 83732251 T C SNP UBE3D ENST00000369747 human ensembl 74_37 -1 known missense c.767 p.Q256R 0.997 pfam_UBQ-conj_enz_E2-bd_prot pfam_UBQ-conj_enz_E2-bd_prot - no_errors UBE3D HGNC ENSG00000118420 42 0 0 25 9 26.4706 DOPEY1 0 genome.wustl.edu 37 6 83818737 83818737 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 83818737 83818737 T A SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known silent c.429 p.G143 1.000 pfam_Dopey_N,superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 115 1 0.862069 90 6 6.25 DOPEY1 0 genome.wustl.edu 37 6 83830457 83830457 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 83830457 83830457 A G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.1046 p.Q349R 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 81 0 0 53 8 13.1148 DOPEY1 0 genome.wustl.edu 37 6 83848231 83848231 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 83848231 83848231 A G SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.4470 p.I1490M 0.985 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 98 0 0 71 10 12.3457 DOPEY1 0 genome.wustl.edu 37 6 83863667 83863667 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 83863667 83863667 T C SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known silent c.6294 p.S2098 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 147 0 0 112 15 11.811 PGM3 0 genome.wustl.edu 37 6 83888390 83888390 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 83888390 83888390 A G SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known splice_site c.1029+2 e7+2 1.000 - - - no_errors PGM3 HGNC ENSG00000013375 103 0 0 69 7 9.21053 MRAP2 0 genome.wustl.edu 37 6 84799100 84799100 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 84799100 84799100 A G SNP MRAP2 ENST00000257776 human ensembl 74_37 +1 known missense c.518 p.D173G 1.000 NULL NULL - no_errors MRAP2 HGNC ENSG00000135324 86 0 0 69 22 24.1758 KIAA1009 0 genome.wustl.edu 37 6 84910585 84910585 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 84910585 84910585 T C SNP KIAA1009 ENST00000403245 human ensembl 74_37 -1 known missense c.757 p.N253D 0.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 219 0 0 149 11 6.875 TBX18 0 genome.wustl.edu 37 6 85446856 85446856 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 85446856 85446856 A G SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known silent c.1371 p.Y457 0.727 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 84 0 0 89 8 8.24742 SNX14 0 genome.wustl.edu 37 6 86267737 86267737 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 86267737 86267737 T C SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known silent c.591 p.A197 0.999 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 214 0 0 133 9 6.33803 SNX14 0 genome.wustl.edu 37 6 86281934 86281934 + Splice_Site SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 86281934 86281934 C A SNP SNX14 ENST00000314673 human ensembl 74_37 -1 known splice_site c.339-1 e4-1 1.000 - - - no_errors SNX14 HGNC ENSG00000135317 112 0 0 90 7 7.21649 SYNCRIP 0 genome.wustl.edu 37 6 86329028 86329028 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 86329028 86329028 A T SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.1116 p.D372E 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 119 0 0 83 8 8.79121 ZNF292 0 genome.wustl.edu 37 6 87965271 87965271 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 87965271 87965271 T G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.1924 p.S642A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 42 0 0 31 3 8.82353 AKIRIN2 0 genome.wustl.edu 37 6 88385594 88385594 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 88385594 88385594 T C SNP AKIRIN2 ENST00000257787 human ensembl 74_37 -1 known silent c.585 p.G195 1.000 NULL NULL - no_errors AKIRIN2 HGNC ENSG00000135334 106 0 0 79 8 9.1954 AKIRIN2 0 genome.wustl.edu 37 6 88387678 88387678 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 88387678 88387678 T C SNP AKIRIN2 ENST00000257787 human ensembl 74_37 -1 known silent c.387 p.S129 1.000 NULL NULL - no_errors AKIRIN2 HGNC ENSG00000135334 68 0 0 35 17 32.6923 CNR1 0 genome.wustl.edu 37 6 88853779 88853779 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 88853779 88853779 T C SNP CNR1 ENST00000369499 human ensembl 74_37 -1 known silent c.1215 p.R405 0.955 pfam_7TM_GPCR_olfarory/Srsx,pirsf_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn - no_errors CNR1 HGNC ENSG00000118432 91 0 0 80 5 5.88235 GABRR1 0 genome.wustl.edu 37 6 89890057 89890057 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 89890057 89890057 T C SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.1100 p.Y367C 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 47 0 0 39 9 18.75 MDN1 0 genome.wustl.edu 37 6 90372614 90372614 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90372614 90372614 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.14309 p.E4770G 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 232 0 0 230 14 5.7377 MDN1 0 genome.wustl.edu 37 6 90410395 90410395 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90410395 90410395 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.8608 p.R2870G 0.990 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 90 0 0 70 8 10.2564 MDN1 0 genome.wustl.edu 37 6 90410508 90410508 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90410508 90410508 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.8495 p.Q2832R 0.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 63 0 0 45 4 8.16327 MDN1 0 genome.wustl.edu 37 6 90491146 90491146 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90491146 90491146 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.1615 p.T539A 0.001 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 121 0 0 101 8 7.33945 MDN1 0 genome.wustl.edu 37 6 90494776 90494776 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90494776 90494776 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.1404 p.W468C 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 206 1 0.483092 163 12 6.85714 CASP8AP2 0 genome.wustl.edu 37 6 90571956 90571956 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90571956 90571956 G T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 160 0 0 125 11 8.08824 CASP8AP2 0 genome.wustl.edu 37 6 90577062 90577062 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90577062 90577062 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors CASP8AP2 HGNC ENSG00000118412 68 0 0 55 11 16.6667 CASP8AP2 0 genome.wustl.edu 37 6 90578332 90578332 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90578332 90578332 A G SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.028 - - - no_errors CASP8AP2 HGNC ENSG00000118412 59 0 0 40 5 11.1111 BACH2 0 genome.wustl.edu 37 6 90642371 90642371 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90642371 90642371 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.2282 p.A761V 0.807 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 43 0 0 40 10 20 BACH2 0 genome.wustl.edu 37 6 90661298 90661298 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90661298 90661298 G A SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.527 p.A176V 0.996 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 104 0 0 89 17 16.0377 BACH2 0 genome.wustl.edu 37 6 90661318 90661318 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90661318 90661318 C T SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known silent c.507 p.E169 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 100 0 0 96 6 5.88235 MAP3K7 0 genome.wustl.edu 37 6 91226365 91226365 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 91226365 91226365 T C SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.1676 p.K559R 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 84 0 0 89 11 11 MAP3K7 0 genome.wustl.edu 37 6 91233425 91233425 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 91233425 91233425 A T SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.1434 p.S478R 1.000 pirsf_MAPKKK7 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 77 0 0 63 8 11.2676 MAP3K7 0 genome.wustl.edu 37 6 91260185 91260185 + Splice_Site SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 91260185 91260185 A T SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known splice_site c.949+2 e9+2 1.000 - - - no_errors MAP3K7 HGNC ENSG00000135341 84 0 0 63 4 5.97015 FUT9 0 genome.wustl.edu 37 6 96651601 96651601 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 96651601 96651601 C T SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known silent c.570 p.C190 0.999 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 69 0 0 65 5 7.14286 UFL1 0 genome.wustl.edu 37 6 96984149 96984149 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 96984149 96984149 C T SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known missense c.685 p.R229C 1.000 pfam_E3_UFM1_ligase_1 pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 144 0 0 115 7 5.7377 UFL1 0 genome.wustl.edu 37 6 96986536 96986536 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 96986536 96986536 A C SNP UFL1 ENST00000369278 human ensembl 74_37 +1 known missense c.1008 p.E336D 1.000 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 93 0 0 51 13 20.3125 MMS22L 0 genome.wustl.edu 37 6 97634560 97634560 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 97634560 97634560 C T SNP MMS22L ENST00000275053 human ensembl 74_37 -1 known missense c.2046 p.M682I 1.000 NULL superfamily_ARM-type_fold - no_errors MMS22L HGNC ENSG00000146263 60 0 0 29 4 12.1212 FAXC 0 genome.wustl.edu 37 6 99729068 99729068 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 99729068 99729068 T A SNP FAXC ENST00000389677 human ensembl 74_37 -1 known missense c.1202 p.D401V 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 133 0 0 110 11 9.09091 PNISR 0 genome.wustl.edu 37 6 99849264 99849264 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 99849264 99849264 T C SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.1570 p.T524A 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 58 0 0 39 3 7.14286 PNISR 0 genome.wustl.edu 37 6 99862500 99862500 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 99862500 99862500 C A SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.36 p.W12C 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 143 0 0 103 10 8.84956 MEPCE 0 genome.wustl.edu 37 7 100028639 100028639 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100028639 100028639 C A SNP MEPCE ENST00000310512 human ensembl 74_37 +1 known missense c.998 p.P333Q 0.791 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 148 0 0 117 39 25 NYAP1 0 genome.wustl.edu 37 7 100086267 100086267 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100086267 100086267 C T SNP NYAP1 ENST00000423930 human ensembl 74_37 +1 known missense c.923 p.P308L 0.910 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 65 0 0 91 14 13.3333 ACTL6B 0 genome.wustl.edu 37 7 100243920 100243920 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100243920 100243920 C A SNP ACTL6B ENST00000160382 human ensembl 74_37 -1 known missense c.1152 p.M384I 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL6B HGNC ENSG00000077080 29 0 0 19 5 20.8333 ZAN 0 genome.wustl.edu 37 7 100350794 100350794 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100350794 100350794 A G SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.3066 p.P1022 0.001 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 57 0 0 56 5 8.19672 EPHB4 0 genome.wustl.edu 37 7 100401097 100401097 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100401097 100401097 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2950 p.A984T 0.100 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 14 0 0 9 2 18.1818 TRIP6 0 genome.wustl.edu 37 7 100469238 100469238 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100469238 100469238 A G SNP TRIP6 ENST00000200457 human ensembl 74_37 +1 known missense c.1073 p.Y358C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TRIP6 HGNC ENSG00000087077 52 0 0 61 7 10.2941 ACHE 0 genome.wustl.edu 37 7 100490064 100490064 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100490064 100490064 T C SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.1444 p.I482V 1.000 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 54 0 0 45 5 10 ACHE 0 genome.wustl.edu 37 7 100491298 100491298 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100491298 100491298 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.556 p.A186T 0.982 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 81 0 0 87 9 9.375 MUC17 0 genome.wustl.edu 37 7 100677683 100677683 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100677683 100677683 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.2986 p.A996T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 372 1 0.268097 306 31 9.19881 MUC17 0 genome.wustl.edu 37 7 100679615 100679615 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100679615 100679615 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.4918 p.T1640A 0.031 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 364 1 0.273973 331 28 7.79944 MUC17 0 genome.wustl.edu 37 7 100683690 100683690 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100683690 100683690 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.8993 p.P2998L 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 386 0 0 356 25 6.56168 MUC17 0 genome.wustl.edu 37 7 100686475 100686475 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100686475 100686475 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.11778 p.V3926 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 189 0 0 156 15 8.77193 TRIM56 0 genome.wustl.edu 37 7 100732344 100732344 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100732344 100732344 C T SNP TRIM56 ENST00000306085 human ensembl 74_37 +1 known missense c.1751 p.A584V 0.838 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC ENSG00000169871 123 0 0 105 6 5.40541 AP1S1 0 genome.wustl.edu 37 7 100799969 100799969 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100799969 100799969 G A SNP AP1S1 ENST00000337619 human ensembl 74_37 +1 known missense c.98 p.R33H 0.994 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 17 0 0 11 2 15.3846 PLOD3 0 genome.wustl.edu 37 7 100856390 100856390 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100856390 100856390 T C SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.775 p.K259E 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 38 0 0 35 5 12.5 COL26A1 0 genome.wustl.edu 37 7 101188738 101188738 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 101188738 101188738 C T SNP COL26A1 ENST00000313669 human ensembl 74_37 +1 known missense c.823 p.L275F 0.975 NULL pfam_EMI_domain,pfam_Collagen,pfscan_EMI_domain - no_errors COL26A1 HGNC ENSG00000160963 19 0 0 21 5 19.2308 SH2B2 0 genome.wustl.edu 37 7 101960844 101960844 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 101960844 101960844 A G SNP SH2B2 ENST00000536178 human ensembl 74_37 +1 known missense c.1559 p.H520R 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2,prints_SH2 - no_errors SH2B2 HGNC ENSG00000160999 47 0 0 68 6 8.10811 LRWD1 0 genome.wustl.edu 37 7 102106487 102106487 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 102106487 102106487 C T SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known missense c.304 p.P102S 1.000 NULL pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 28 0 0 42 5 10.6383 LRWD1 0 genome.wustl.edu 37 7 102108751 102108751 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 102108751 102108751 C T SNP LRWD1 ENST00000292616 human ensembl 74_37 +1 known silent c.846 p.H282 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LRWD1 HGNC ENSG00000161036 28 0 0 22 3 12 NAPEPLD 0 genome.wustl.edu 37 7 102760524 102760524 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 102760524 102760524 A T SNP NAPEPLD ENST00000455523 human ensembl 74_37 -1 known missense c.660 p.D220E 0.992 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 113 0 0 125 8 6.01504 PMPCB 0 genome.wustl.edu 37 7 102948078 102948078 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 102948078 102948078 T C SNP PMPCB ENST00000249269 human ensembl 74_37 +1 known missense c.772 p.F258L 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCB HGNC ENSG00000105819 54 0 0 50 7 12.2807 RELN 0 genome.wustl.edu 37 7 103124188 103124188 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 103124188 103124188 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.10093 p.V3365I 0.991 pfam_BNR_rpt pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 149 0 0 126 32 20.2532 RELN 0 genome.wustl.edu 37 7 103130326 103130326 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 103130326 103130326 A T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.9626 p.I3209N 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 68 0 0 60 5 7.69231 RELN 0 genome.wustl.edu 37 7 103191549 103191549 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 103191549 103191549 C A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.6267 p.R2089S 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 44 0 0 49 8 14.0351 RELN 0 genome.wustl.edu 37 7 103230160 103230160 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 103230160 103230160 G T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.4028 p.A1343E 0.168 superfamily_Growth_fac_rcpt_N_dom pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 145 0 0 126 12 8.69565 CDHR3 0 genome.wustl.edu 37 7 105641973 105641973 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 105641973 105641973 C T SNP CDHR3 ENST00000317716 human ensembl 74_37 +1 known missense c.779 p.A260V 0.383 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR3 HGNC ENSG00000128536 222 0 0 198 17 7.90698 PIK3CG 0 genome.wustl.edu 37 7 106508059 106508059 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 106508059 106508059 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.53 p.R18Q 0.099 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 89 0 0 81 13 13.8298 PRKAR2B 0 genome.wustl.edu 37 7 106781302 106781302 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 106781302 106781302 C T SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known missense c.491 p.S164F 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 88 0 0 39 8 17.0213 PRKAR2B 0 genome.wustl.edu 37 7 106799932 106799932 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 106799932 106799932 T A SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known missense c.1162 p.C388S 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 96 0 0 62 9 12.6761 BCAP29 0 genome.wustl.edu 37 7 107258781 107258781 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 107258781 107258781 A G SNP BCAP29 ENST00000379119 human ensembl 74_37 +1 known missense c.778 p.R260G 0.034 NULL pfam_Bap31 - no_errors BCAP29 HGNC ENSG00000075790 113 0 0 79 5 5.95238 LAMB1 0 genome.wustl.edu 37 7 107575974 107575974 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 107575974 107575974 G A SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known silent c.4074 p.D1358 0.001 superfamily_P-loop_NTPase pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 260 0 0 313 17 5.15152 DNAJB9 0 genome.wustl.edu 37 7 108213489 108213489 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 108213489 108213489 T C SNP DNAJB9 ENST00000249356 human ensembl 74_37 +1 known missense c.364 p.F122L 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB9 HGNC ENSG00000128590 68 0 0 57 4 6.55738 GPR146 0 genome.wustl.edu 37 7 1097377 1097377 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 1097377 1097377 C T SNP GPR146 ENST00000297468 human ensembl 74_37 +1 known missense c.226 p.L76F 0.922 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR146 HGNC ENSG00000164849 25 0 0 26 5 16.129 LRRN3 0 genome.wustl.edu 37 7 110763174 110763174 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 110763174 110763174 C T SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.346 p.P116S 1.000 smart_Leu-rich_rpt_typical-subtyp 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 75 0 0 43 17 28.3333 LRRN3 0 genome.wustl.edu 37 7 110764599 110764599 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 110764599 110764599 A G SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.1771 p.I591V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 59 0 0 50 7 12.2807 LRRN3 0 genome.wustl.edu 37 7 110764825 110764825 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 110764825 110764825 T A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known nonsense c.1997 p.L666* 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 139 0 0 138 15 9.80392 PHF14 0 genome.wustl.edu 37 7 11101630 11101630 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 11101630 11101630 T C SNP PHF14 ENST00000403050 human ensembl 74_37 +1 known silent c.2572 p.L858 0.975 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 33 0 0 24 3 11.1111 GPR85 0 genome.wustl.edu 37 7 112723818 112723818 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 112723818 112723818 A T SNP GPR85 ENST00000297146 human ensembl 74_37 -1 known missense c.959 p.F320Y 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR85 HGNC ENSG00000164604 64 0 0 49 4 7.54717 GPER1 0 genome.wustl.edu 37 7 1131927 1131927 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 1131927 1131927 C T SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.563 p.A188V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 26 0 0 27 3 10 PPP1R3A 0 genome.wustl.edu 37 7 113519801 113519801 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 113519801 113519801 C T SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1346 p.G449D 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 160 0 0 96 39 28.8889 PPP1R3A 0 genome.wustl.edu 37 7 113558357 113558357 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 113558357 113558357 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.695 p.Q232R 1.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 182 0 0 137 9 6.16438 THSD7A 0 genome.wustl.edu 37 7 11422208 11422208 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 11422208 11422208 C A SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.4447 p.A1483S 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 50 0 0 30 7 18.9189 FOXP2 0 genome.wustl.edu 37 7 114304425 114304425 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 114304425 114304425 A G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.2012 p.N671S 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 87 0 0 51 8 13.5593 MET 0 genome.wustl.edu 37 7 116339390 116339390 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 116339390 116339390 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.252 p.Y84 1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 129 1 0.769231 76 7 8.43373 MET 0 genome.wustl.edu 37 7 116339813 116339813 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 116339813 116339813 T C SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.675 p.G225 0.725 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 243 2 0.816327 180 19 9.54774 WNT2 0 genome.wustl.edu 37 7 116955236 116955236 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 116955236 116955236 A T SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known missense c.477 p.D159E 0.995 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 171 0 0 124 8 6.06061 WNT2 0 genome.wustl.edu 37 7 116960775 116960775 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 116960775 116960775 C T SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known silent c.156 p.R52 0.988 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 30 0 0 25 4 13.7931 CTTNBP2 0 genome.wustl.edu 37 7 117431265 117431265 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 117431265 117431265 A G SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.1985 p.I662T 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 109 0 0 89 13 12.7451 ANKRD7 0 genome.wustl.edu 37 7 117876922 117876922 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 117876922 117876922 T C SNP ANKRD7 ENST00000357099 human ensembl 74_37 +1 known silent c.714 p.C238 0.000 smart_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD7 HGNC ENSG00000106013 218 0 0 193 13 6.31068 TSPAN12 0 genome.wustl.edu 37 7 120496772 120496772 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 120496772 120496772 C T SNP TSPAN12 ENST00000222747 human ensembl 74_37 -1 known missense c.46 p.A16T 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 52 0 0 39 6 13.3333 PTPRZ1 0 genome.wustl.edu 37 7 121650696 121650696 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 121650696 121650696 A C SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.1596 p.E532D 0.269 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 123 0 0 86 7 7.52688 PTPRZ1 0 genome.wustl.edu 37 7 121652348 121652348 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 121652348 121652348 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known missense c.3248 p.A1083V 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 127 0 0 65 15 18.75 PTPRZ1 0 genome.wustl.edu 37 7 121694043 121694043 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 121694043 121694043 G A SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known nonsense c.6332 p.W2111* 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_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 186 0 0 164 11 6.28571 AASS 0 genome.wustl.edu 37 7 121719675 121719675 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 121719675 121719675 T C SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.2372 p.N791S 0.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 64 0 0 57 6 9.52381 AASS 0 genome.wustl.edu 37 7 121773641 121773641 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 121773641 121773641 A G SNP AASS ENST00000393376 human ensembl 74_37 -1 known missense c.140 p.I47T 1.000 pfam_AlaDH/PNT_N pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 91 0 0 77 7 8.33333 CADPS2 0 genome.wustl.edu 37 7 121960379 121960379 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 121960379 121960379 T C SNP CADPS2 ENST00000449022 human ensembl 74_37 -1 known missense c.3731 p.D1244G 1.000 NULL pfam_Ca-dep_secretion_activator,pfam_Pleckstrin_homology,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS2 HGNC ENSG00000081803 242 0 0 189 10 5.02513 RNF148 0 genome.wustl.edu 37 7 122342388 122342388 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 122342388 122342388 T A SNP RNF148 ENST00000434824 human ensembl 74_37 -1 known silent c.417 p.V139 0.946 pfam_Protease-assoc_domain pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF148 HGNC ENSG00000235631 375 0 0 340 28 7.6087 TAS2R16 0 genome.wustl.edu 37 7 122635559 122635559 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 122635559 122635559 G A SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known missense c.130 p.P44S 0.682 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 82 0 0 49 16 24.6154 TAS2R16 0 genome.wustl.edu 37 7 122635650 122635650 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 122635650 122635650 G T SNP TAS2R16 ENST00000249284 human ensembl 74_37 -1 known silent c.39 p.I13 0.015 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC ENSG00000128519 53 0 0 39 4 9.30233 TMEM106B 0 genome.wustl.edu 37 7 12271530 12271530 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 12271530 12271530 G A SNP TMEM106B ENST00000396667 human ensembl 74_37 +1 known missense c.754 p.D252N 1.000 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106B HGNC ENSG00000106460 72 0 0 33 4 10.8108 GPR37 0 genome.wustl.edu 37 7 124387074 124387074 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 124387074 124387074 A G SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known silent c.1347 p.C449 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 93 0 0 69 18 20.6897 GRM8 0 genome.wustl.edu 37 7 126173162 126173162 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 126173162 126173162 G A SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known silent c.2274 p.L758 1.000 pfam_GPCR_3_C,prints_GPCR_3,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 63 0 0 67 5 6.94444 FSCN3 0 genome.wustl.edu 37 7 127238634 127238634 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 127238634 127238634 A G SNP FSCN3 ENST00000265825 human ensembl 74_37 +1 known missense c.1106 p.N369S 0.411 pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN3 HGNC ENSG00000106328 110 1 0.900901 115 9 7.25806 UNCX 0 genome.wustl.edu 37 7 1273256 1273256 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 1273256 1273256 C T SNP UNCX ENST00000316333 human ensembl 74_37 +1 known silent c.375 p.N125 0.992 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 64 0 0 34 9 20.9302 SND1 0 genome.wustl.edu 37 7 127361418 127361418 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 127361418 127361418 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known silent c.1116 p.S372 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Staphylococal_nuclease_OB-fold pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 98 0 0 71 8 10.1266 SND1 0 genome.wustl.edu 37 7 127731895 127731895 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 127731895 127731895 G A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.2629 p.E877K 1.000 pfam_Staphylococal_nuclease_OB-fold,superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 184 0 0 169 11 6.11111 IMPDH1 0 genome.wustl.edu 37 7 128038643 128038643 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 128038643 128038643 C T SNP IMPDH1 ENST00000338791 human ensembl 74_37 -1 known missense c.899 p.C300Y 0.005 pfam_IMP_DH_GMPRt,pfam_CBS_dom,smart_CBS_dom,tigrfam_IMP_DH pfam_IMP_DH_GMPRt,pfam_CBS_dom,pfam_2Npropane_dOase,pfam_FMN-dep_DH,smart_CBS_dom,tigrfam_IMP_DH - no_errors IMPDH1 HGNC ENSG00000106348 100 1 0.990099 95 33 25.7812 FLNC 0 genome.wustl.edu 37 7 128470877 128470877 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 128470877 128470877 C T SNP FLNC ENST00000325888 human ensembl 74_37 +1 known silent c.186 p.R62 0.998 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 20 0 0 24 4 14.2857 FLNC 0 genome.wustl.edu 37 7 128478072 128478072 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 128478072 128478072 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.1001 p.R334H 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 85 0 0 65 4 5.7971 TNPO3 0 genome.wustl.edu 37 7 128610202 128610202 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 128610202 128610202 C T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known silent c.2700 p.P900 1.000 NULL pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 108 0 0 108 10 8.47458 SMO 0 genome.wustl.edu 37 7 128843398 128843398 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 128843398 128843398 T G SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.505 p.C169G 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 28 0 0 21 4 16 STRIP2 0 genome.wustl.edu 37 7 129122759 129122759 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 129122759 129122759 T A SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.2126 p.V709D 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 93 0 0 71 8 10.1266 STRIP2 0 genome.wustl.edu 37 7 129122851 129122851 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 129122851 129122851 C T SNP STRIP2 ENST00000249344 human ensembl 74_37 +1 known missense c.2218 p.R740C 1.000 pfam_DUF3402 pfam_DUF3402,pfam_N1221 - no_errors STRIP2 HGNC ENSG00000128578 69 0 0 51 12 19.0476 MKLN1 0 genome.wustl.edu 37 7 131113829 131113829 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 131113829 131113829 A G SNP MKLN1 ENST00000352689 human ensembl 74_37 +1 known silent c.885 p.Q295 1.000 pfam_Kelch_1 pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 113 0 0 76 9 10.5882 PLXNA4 0 genome.wustl.edu 37 7 131883351 131883351 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 131883351 131883351 A C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.2631 p.T877 0.997 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 86 0 0 79 11 12.2222 PLXNA4 0 genome.wustl.edu 37 7 131982870 131982870 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 131982870 131982870 A G SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.1483 p.Y495H 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 81 0 0 78 6 7.14286 PLXNA4 0 genome.wustl.edu 37 7 132192892 132192892 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 132192892 132192892 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.561 p.T187 0.046 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 107 0 0 108 8 6.89655 EXOC4 0 genome.wustl.edu 37 7 132959843 132959843 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 132959843 132959843 C T SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.193 p.H65Y 1.000 pfam_Sec8_exocyst pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 94 0 0 58 18 23.6842 EXOC4 0 genome.wustl.edu 37 7 133002097 133002097 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 133002097 133002097 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.716 p.R239Q 0.996 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 212 1 0.469484 169 26 13.3333 AKR1B1 0 genome.wustl.edu 37 7 134133174 134133174 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 134133174 134133174 G A SNP AKR1B1 ENST00000285930 human ensembl 74_37 -1 known silent c.624 p.T208 0.143 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B1 HGNC ENSG00000085662 91 0 0 72 17 19.1011 AKR1B10 0 genome.wustl.edu 37 7 134221503 134221503 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 134221503 134221503 A G SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known silent c.531 p.K177 0.969 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 180 0 0 138 15 9.80392 BPGM 0 genome.wustl.edu 37 7 134346583 134346583 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 134346583 134346583 T C SNP BPGM ENST00000344924 human ensembl 74_37 +1 known silent c.324 p.G108 0.876 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors BPGM HGNC ENSG00000172331 80 0 0 54 5 8.47458 CNOT4 0 genome.wustl.edu 37 7 135098336 135098336 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 135098336 135098336 G A SNP CNOT4 ENST00000541284 human ensembl 74_37 -1 known silent c.588 p.C196 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom - no_errors CNOT4 HGNC ENSG00000080802 66 0 0 40 6 13.0435 NUP205 0 genome.wustl.edu 37 7 135292081 135292081 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 135292081 135292081 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.3157 p.V1053M 0.248 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 54 0 0 52 4 7.14286 NUP205 0 genome.wustl.edu 37 7 135304309 135304309 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 135304309 135304309 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.4102 p.A1368T 0.153 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 71 0 0 61 6 8.95522 NUP205 0 genome.wustl.edu 37 7 135333207 135333207 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 135333207 135333207 A T SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.5942 p.D1981V 1.000 NULL pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 105 0 0 100 13 11.5044 SLC13A4 0 genome.wustl.edu 37 7 135392908 135392908 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 135392908 135392908 G A SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.319 p.R107C 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 118 0 0 109 11 9.16667 MIR490 0 genome.wustl.edu 37 7 136587912 136587912 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 136587912 136587912 T C SNP MIR490 ENST00000608269 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 174 0 0 159 30 15.873 DGKI 0 genome.wustl.edu 37 7 137282651 137282651 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 137282651 137282651 A C SNP DGKI ENST00000288490 human ensembl 74_37 -1 known missense c.1253 p.L418R 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 39 0 0 27 3 10 CREB3L2 0 genome.wustl.edu 37 7 137590509 137590509 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 137590509 137590509 A G SNP CREB3L2 ENST00000330387 human ensembl 74_37 -1 known missense c.854 p.L285S 1.000 superfamily_TF_DNA-bd pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 198 1 0.502513 197 15 7.07547 AKR1D1 0 genome.wustl.edu 37 7 137773399 137773399 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 137773399 137773399 A G SNP AKR1D1 ENST00000242375 human ensembl 74_37 +1 known missense c.146 p.Y49C 0.995 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1D1 HGNC ENSG00000122787 63 0 0 42 11 20.7547 TRIM24 0 genome.wustl.edu 37 7 138210040 138210040 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138210040 138210040 A G SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known silent c.819 p.L273 0.996 smart_Bbox_C pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 99 0 0 50 6 10.7143 KIAA1549 0 genome.wustl.edu 37 7 138556002 138556002 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138556002 138556002 A G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.4452 p.S1484 0.990 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 59 0 0 57 4 6.55738 KIAA1549 0 genome.wustl.edu 37 7 138603255 138603255 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138603255 138603255 A G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.1117 p.S373P 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 120 0 0 104 11 9.56522 KIAA1549 0 genome.wustl.edu 37 7 138603418 138603418 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138603418 138603418 A G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.954 p.S318 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 106 0 0 100 8 7.40741 KIAA1549 0 genome.wustl.edu 37 7 138603691 138603691 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138603691 138603691 A T SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.681 p.S227R 0.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 133 0 0 110 10 8.33333 ZC3HAV1 0 genome.wustl.edu 37 7 138764925 138764925 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138764925 138764925 A G SNP ZC3HAV1 ENST00000242351 human ensembl 74_37 -1 known silent c.762 p.F254 0.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 273 0 0 240 20 7.69231 UBN2 0 genome.wustl.edu 37 7 138968607 138968607 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138968607 138968607 A G SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.2956 p.T986A 0.065 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 75 0 0 84 7 7.69231 KLRG2 0 genome.wustl.edu 37 7 139168212 139168212 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 139168212 139168212 G A SNP KLRG2 ENST00000340940 human ensembl 74_37 -1 known silent c.177 p.G59 0.000 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRG2 HGNC ENSG00000188883 28 0 0 26 7 21.2121 HIPK2 0 genome.wustl.edu 37 7 139415909 139415909 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 139415909 139415909 C A SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.925 p.A309S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,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_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 104 1 0.952381 113 9 7.37705 JHDM1D 0 genome.wustl.edu 37 7 139826622 139826622 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 139826622 139826622 T A SNP JHDM1D ENST00000397560 human ensembl 74_37 -1 known missense c.703 p.M235L 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 54 0 0 49 7 12.5 BRAF 0 genome.wustl.edu 37 7 140439719 140439719 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 140439719 140439719 G A SNP BRAF ENST00000288602 human ensembl 74_37 -1 known silent c.2020 p.L674 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors BRAF HGNC ENSG00000157764 71 0 0 62 6 8.82353 AGK 0 genome.wustl.edu 37 7 141341172 141341172 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 141341172 141341172 C T SNP AGK ENST00000355413 human ensembl 74_37 +1 known missense c.851 p.A284V 0.020 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 76 0 0 34 12 26.087 TAS2R3 0 genome.wustl.edu 37 7 141464641 141464641 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 141464641 141464641 C T SNP TAS2R3 ENST00000247879 human ensembl 74_37 +1 known missense c.683 p.A228V 1.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R3 HGNC ENSG00000127362 51 0 0 53 5 8.62069 TAS2R4 0 genome.wustl.edu 37 7 141478688 141478688 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 141478688 141478688 C T SNP TAS2R4 ENST00000247881 human ensembl 74_37 +1 known silent c.400 p.L134 0.010 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R4 HGNC ENSG00000127364 205 0 0 130 44 25.2874 MGAM 0 genome.wustl.edu 37 7 141724940 141724940 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 141724940 141724940 A G SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.973 p.N325D 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 100 0 0 56 5 8.19672 MGAM 0 genome.wustl.edu 37 7 141765238 141765238 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 141765238 141765238 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.4588 p.A1530T 0.023 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 15 0 0 17 3 15 TRPV5 0 genome.wustl.edu 37 7 142611854 142611854 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142611854 142611854 C T SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known missense c.1475 p.R492H 1.000 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 33 0 0 22 7 24.1379 C7orf34 0 genome.wustl.edu 37 7 142637475 142637475 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142637475 142637475 C T SNP C7orf34 ENST00000409607 human ensembl 74_37 +1 known missense c.245 p.A82V 0.870 NULL NULL - no_errors C7orf34 HGNC ENSG00000165131 91 0 0 78 6 7.14286 KEL 0 genome.wustl.edu 37 7 142638398 142638398 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142638398 142638398 A G SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.2140 p.Y714H 0.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 100 0 0 86 5 5.49451 KEL 0 genome.wustl.edu 37 7 142640415 142640415 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142640415 142640415 G A SNP KEL ENST00000355265 human ensembl 74_37 -1 known silent c.1719 p.G573 0.941 pfam_Peptidase_M13_C,prints_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 38 0 0 39 4 9.30233 TAS2R39 0 genome.wustl.edu 37 7 142881269 142881269 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142881269 142881269 G T SNP TAS2R39 ENST00000446620 human ensembl 74_37 +1 known missense c.758 p.S253I 1.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R39 HGNC ENSG00000236398 101 0 0 105 6 5.40541 TAS2R39 0 genome.wustl.edu 37 7 142881406 142881406 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142881406 142881406 A G SNP TAS2R39 ENST00000446620 human ensembl 74_37 +1 known missense c.895 p.I299V 0.038 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R39 HGNC ENSG00000236398 55 0 0 43 8 15.6863 TAS2R40 0 genome.wustl.edu 37 7 142919425 142919425 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142919425 142919425 G A SNP TAS2R40 ENST00000408947 human ensembl 74_37 +1 known missense c.254 p.R85Q 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R40 HGNC ENSG00000221937 122 0 0 96 12 11.1111 CLCN1 0 genome.wustl.edu 37 7 143039041 143039041 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 143039041 143039041 T C SNP CLCN1 ENST00000343257 human ensembl 74_37 +1 known silent c.1602 p.G534 0.004 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl_channel-1 - no_errors CLCN1 HGNC ENSG00000188037 86 0 0 47 5 9.61538 OR2A5 0 genome.wustl.edu 37 7 143747579 143747579 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 143747579 143747579 C A SNP OR2A5 ENST00000408906 human ensembl 74_37 +1 known missense c.85 p.L29I 0.014 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A5 HGNC ENSG00000221836 123 0 0 130 9 6.47482 TPK1 0 genome.wustl.edu 37 7 144150652 144150652 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 144150652 144150652 C T SNP TPK1 ENST00000360057 human ensembl 74_37 -1 known missense c.718 p.A240T 1.000 superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk pfam_TPK_catalytic,pfam_Thiamin_PyroPKinase_B1-bd,superfamily_TPK_catalytic,superfamily_Thiamin_PyroPKinase_B1-bd,pirsf_Thiamin_pyrophosphokinase_euk,tigrfam_Thi_PPkinase - no_errors TPK1 HGNC ENSG00000196511 191 0 0 166 13 7.26257 CNTNAP2 0 genome.wustl.edu 37 7 146805249 146805249 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 146805249 146805249 T A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known silent c.561 p.V187 0.982 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 100 0 0 60 8 11.7647 DGKB 0 genome.wustl.edu 37 7 14724957 14724957 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 14724957 14724957 G A SNP DGKB ENST00000258767 human ensembl 74_37 -1 known nonsense c.742 p.R248* 0.999 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 91 0 0 47 18 27.6923 CNTNAP2 0 genome.wustl.edu 37 7 147844651 147844651 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 147844651 147844651 A G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2623 p.T875A 0.002 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 150 0 0 118 12 9.23077 CUL1 0 genome.wustl.edu 37 7 148497652 148497652 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 148497652 148497652 A G SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.2309 p.D770G 1.000 smart_Cullin_neddylation_domain pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 71 0 0 76 7 8.43373 EZH2 0 genome.wustl.edu 37 7 148525902 148525902 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 148525902 148525902 G A SNP EZH2 ENST00000320356 human ensembl 74_37 -1 known silent c.555 p.D185 0.201 smart_SANT/Myb pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 77 0 0 61 4 6.15385 ZNF786 0 genome.wustl.edu 37 7 148769148 148769148 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 148769148 148769148 T A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.716 p.H239L 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 33 0 0 24 5 17.2414 ZNF425 0 genome.wustl.edu 37 7 148800939 148800939 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 148800939 148800939 T C SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known missense c.2024 p.Y675C 0.918 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,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 136 0 0 132 15 10.2041 ZNF282 0 genome.wustl.edu 37 7 148895675 148895675 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 148895675 148895675 C T SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.416 p.T139M 1.000 pfam_DUF3669_Znf pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 82 0 0 66 18 21.4286 ZNF783 0 genome.wustl.edu 37 7 148978623 148978623 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 148978623 148978623 C T SNP ZNF783 ENST00000434415 human ensembl 74_37 +1 known missense c.830 p.A277V 0.087 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF783 HGNC ENSG00000204946 67 0 0 80 9 10.1124 ZNF777 0 genome.wustl.edu 37 7 149129101 149129101 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149129101 149129101 C T SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known silent c.2262 p.E754 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 72 0 0 82 8 8.88889 ZNF777 0 genome.wustl.edu 37 7 149129387 149129387 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149129387 149129387 G A SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.1976 p.T659M 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 170 0 0 165 35 17.5 ZNF777 0 genome.wustl.edu 37 7 149152807 149152807 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149152807 149152807 T C SNP ZNF777 ENST00000247930 human ensembl 74_37 -1 known missense c.307 p.T103A 0.974 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 146 0 0 140 30 17.6471 ZNF467 0 genome.wustl.edu 37 7 149467579 149467579 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149467579 149467579 T C SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.101 p.Q34R 0.973 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 75 0 0 76 5 6.17284 ZNF467 0 genome.wustl.edu 37 7 149468102 149468102 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149468102 149468102 G A SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.20 p.A7V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 81 0 0 59 4 6.34921 SSPO 0 genome.wustl.edu 37 7 149516491 149516491 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149516491 149516491 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 22 0 0 26 3 10.3448 SSPO 0 genome.wustl.edu 37 7 149529972 149529972 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149529972 149529972 C T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors SSPO HGNC ENSG00000197558 17 0 0 19 4 17.3913 ZNF862 0 genome.wustl.edu 37 7 149557749 149557749 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149557749 149557749 A G SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known silent c.1500 p.S500 0.936 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 136 0 0 108 8 6.89655 ATP6V0E2 0 genome.wustl.edu 37 7 149575841 149575841 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 149575841 149575841 T C SNP ATP6V0E2 ENST00000456496 human ensembl 74_37 +1 known missense c.374 p.V125A 1.000 NULL pfam_ATPase_V0-cplx_e1/e2_su - no_errors ATP6V0E2 HGNC ENSG00000171130 47 0 0 51 7 12.069 LRRC61 0 genome.wustl.edu 37 7 150034226 150034226 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150034226 150034226 A G SNP LRRC61 ENST00000323078 human ensembl 74_37 +1 known silent c.276 p.P92 0.332 NULL pfam_Leu-rich_rpt - no_errors LRRC61 HGNC ENSG00000127399 43 0 0 47 5 9.61538 GIMAP8 0 genome.wustl.edu 37 7 150174507 150174507 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150174507 150174507 C T SNP GIMAP8 ENST00000307271 human ensembl 74_37 +1 known missense c.1637 p.A546V 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP8 HGNC ENSG00000171115 98 0 0 81 13 13.8298 AOC1 0 genome.wustl.edu 37 7 150553893 150553893 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150553893 150553893 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.335 p.T112I 1.000 pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 74 0 0 94 6 6 AOC1 0 genome.wustl.edu 37 7 150553979 150553979 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150553979 150553979 A G SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.421 p.R141G 0.041 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 60 0 0 70 9 11.3924 AOC1 0 genome.wustl.edu 37 7 150554819 150554819 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150554819 150554819 A G SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.1261 p.M421V 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 62 0 0 49 4 7.54717 AOC1 0 genome.wustl.edu 37 7 150555934 150555934 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150555934 150555934 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known missense c.1654 p.P552S 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 41 0 0 40 4 9.09091 ATG9B 0 genome.wustl.edu 37 7 150715789 150715789 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150715789 150715789 T C SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.1636 p.T546A 1.000 pfam_Autophagy-rel_prot_9 pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 37 0 0 30 4 11.7647 CHPF2 0 genome.wustl.edu 37 7 150932145 150932145 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150932145 150932145 T A SNP CHPF2 ENST00000035307 human ensembl 74_37 +1 known missense c.275 p.I92N 1.000 NULL pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 72 0 0 58 4 6.45161 NUB1 0 genome.wustl.edu 37 7 151049913 151049913 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151049913 151049913 T C SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known silent c.432 p.F144 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 89 0 0 62 9 12.6761 NUB1 0 genome.wustl.edu 37 7 151053219 151053219 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151053219 151053219 G T SNP NUB1 ENST00000568733 human ensembl 74_37 +1 known nonsense c.676 p.E226* 1.000 NULL pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC ENSG00000013374 49 0 0 29 4 12.1212 INTS1 0 genome.wustl.edu 37 7 1513960 1513960 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 1513960 1513960 G T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.6285 p.R2095 0.034 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 52 0 0 56 7 11.1111 GALNTL5 0 genome.wustl.edu 37 7 151716738 151716738 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151716738 151716738 T C SNP GALNTL5 ENST00000392800 human ensembl 74_37 +1 known missense c.1184 p.F395S 0.952 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 111 0 0 79 6 7.05882 KMT2C 0 genome.wustl.edu 37 7 151845492 151845492 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151845492 151845492 T C SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.13691 p.K4564R 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 153 0 0 130 13 9.09091 KMT2C 0 genome.wustl.edu 37 7 151859810 151859810 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151859810 151859810 A T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.10852 p.S3618T 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 86 0 0 79 8 9.1954 KMT2C 0 genome.wustl.edu 37 7 151864460 151864460 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151864460 151864460 T A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.9521 p.D3174V 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 105 0 0 72 7 8.86076 KMT2C 0 genome.wustl.edu 37 7 151873608 151873608 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151873608 151873608 G T SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.8930 p.S2977Y 0.519 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 64 0 0 47 5 9.61538 KMT2C 0 genome.wustl.edu 37 7 151917681 151917681 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151917681 151917681 G A SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known silent c.3639 p.S1213 0.994 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 69 0 0 45 12 21.0526 KMT2C 0 genome.wustl.edu 37 7 151960175 151960175 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151960175 151960175 A G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.1225 p.C409R 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 125 0 0 78 11 12.3596 XRCC2 0 genome.wustl.edu 37 7 152346370 152346370 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 152346370 152346370 A G SNP XRCC2 ENST00000359321 human ensembl 74_37 -1 known missense c.200 p.L67P 1.000 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 82 0 0 69 5 6.75676 INTS1 0 genome.wustl.edu 37 7 1526379 1526379 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 1526379 1526379 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known missense c.3287 p.R1096H 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 38 0 0 21 4 16 INTS1 0 genome.wustl.edu 37 7 1538925 1538925 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 1538925 1538925 G A SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.1300 p.L434 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 107 0 0 98 7 6.66667 DPP6 0 genome.wustl.edu 37 7 154645512 154645512 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 154645512 154645512 G A SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known silent c.1689 p.T563 0.119 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 140 0 0 111 12 9.7561 PAXIP1 0 genome.wustl.edu 37 7 154752746 154752746 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 154752746 154752746 A T SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.2291 p.I764K 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 22 0 0 9 2 18.1818 HTR5A 0 genome.wustl.edu 37 7 154863077 154863077 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 154863077 154863077 C T SNP HTR5A ENST00000287907 human ensembl 74_37 +1 known silent c.468 p.C156 0.825 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT5A_rcpt,prints_5HT_rcpt - no_errors HTR5A HGNC ENSG00000157219 45 0 0 39 11 22 INSIG1 0 genome.wustl.edu 37 7 155094494 155094494 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 155094494 155094494 C A SNP INSIG1 ENST00000340368 human ensembl 74_37 +1 known missense c.742 p.L248I 1.000 pfam_INSIG_fam pfam_INSIG_fam - no_errors INSIG1 HGNC ENSG00000186480 178 0 0 143 11 7.14286 NOM1 0 genome.wustl.edu 37 7 156758976 156758976 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 156758976 156758976 G T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.2046 p.K682N 1.000 pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 158 0 0 126 7 5.26316 UBE3C 0 genome.wustl.edu 37 7 157009567 157009567 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 157009567 157009567 A T SNP UBE3C ENST00000348165 human ensembl 74_37 +1 known missense c.1816 p.T606S 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC ENSG00000009335 57 0 0 43 3 6.52174 PTPRN2 0 genome.wustl.edu 37 7 157985112 157985112 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 157985112 157985112 T A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known silent c.525 p.R175 0.325 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 80 0 0 88 10 10.2041 NCAPG2 0 genome.wustl.edu 37 7 158447815 158447815 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 158447815 158447815 T C SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.2641 p.I881V 0.205 NULL pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 105 0 0 74 6 7.5 VIPR2 0 genome.wustl.edu 37 7 158829484 158829484 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 158829484 158829484 G A SNP VIPR2 ENST00000262178 human ensembl 74_37 -1 known missense c.707 p.P236L 0.018 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2 pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 37 0 0 28 3 9.67742 SOSTDC1 0 genome.wustl.edu 37 7 16505200 16505200 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 16505200 16505200 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known missense c.94 p.L32I 1.000 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 111 0 0 86 10 10.4167 MACC1 0 genome.wustl.edu 37 7 20180770 20180770 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 20180770 20180770 T A SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.2358 p.K786N 0.989 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 82 0 0 73 5 6.41026 MACC1 0 genome.wustl.edu 37 7 20199707 20199707 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 20199707 20199707 T A SNP MACC1 ENST00000332878 human ensembl 74_37 -1 known missense c.277 p.I93F 0.001 NULL pfam_SH3_2,superfamily_DEATH-like_dom - no_errors MACC1 HGNC ENSG00000183742 67 0 0 52 4 7.14286 ITGB8 0 genome.wustl.edu 37 7 20449319 20449319 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 20449319 20449319 T C SNP ITGB8 ENST00000222573 human ensembl 74_37 +1 known missense c.2105 p.L702P 1.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 224 0 0 104 33 24.0876 ABCB5 0 genome.wustl.edu 37 7 20666232 20666232 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 20666232 20666232 A T SNP ABCB5 ENST00000404938 human ensembl 74_37 +1 putative missense c.106 p.I36L 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 26 0 0 22 3 12 ABCB5 0 genome.wustl.edu 37 7 20778637 20778637 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 20778637 20778637 G A SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known missense c.1564 p.A522T 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 38 0 0 24 3 11.1111 DNAH11 0 genome.wustl.edu 37 7 21603998 21603998 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 21603998 21603998 A T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.1177 p.N393Y 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 55 0 0 47 4 7.84314 DNAH11 0 genome.wustl.edu 37 7 21609853 21609853 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 21609853 21609853 A T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.1361 p.D454V 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 161 0 0 111 6 5.12821 DNAH11 0 genome.wustl.edu 37 7 21906122 21906122 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 21906122 21906122 A T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.11552 p.D3851V 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 128 0 0 103 11 9.64912 DNAH11 0 genome.wustl.edu 37 7 21923982 21923982 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 21923982 21923982 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.12482 p.R4161H 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 97 0 0 72 25 25.7732 STEAP1B 0 genome.wustl.edu 37 7 22533402 22533402 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 22533402 22533402 C A SNP STEAP1B ENST00000404369 human ensembl 74_37 -1 putative missense c.138 p.L46F 0.638 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 92 0 0 54 6 10 MAD1L1 0 genome.wustl.edu 37 7 2262372 2262372 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 2262372 2262372 G A SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known silent c.309 p.N103 1.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 39 0 0 42 8 16 SNX8 0 genome.wustl.edu 37 7 2311504 2311504 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 2311504 2311504 A G SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known missense c.521 p.F174S 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 22 0 0 23 3 11.5385 KLHL7 0 genome.wustl.edu 37 7 23164720 23164720 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 23164720 23164720 A G SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.371 p.Y124C 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 93 0 0 61 9 12.8571 FAM221A 0 genome.wustl.edu 37 7 23724154 23724154 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 23724154 23724154 T A SNP FAM221A ENST00000344962 human ensembl 74_37 +1 known silent c.102 p.T34 0.996 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 61 0 0 43 7 14 STK31 0 genome.wustl.edu 37 7 23751728 23751728 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 23751728 23751728 A T SNP STK31 ENST00000355870 human ensembl 74_37 +1 known missense c.61 p.I21F 0.727 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 60 0 0 25 4 13.7931 STK31 0 genome.wustl.edu 37 7 23809300 23809300 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 23809300 23809300 C T SNP STK31 ENST00000355870 human ensembl 74_37 +1 known silent c.1638 p.D546 0.182 NULL pfam_Tudor,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_dom - no_errors STK31 HGNC ENSG00000196335 176 0 0 104 13 11.1111 SKAP2 0 genome.wustl.edu 37 7 26724393 26724393 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 26724393 26724393 A C SNP SKAP2 ENST00000345317 human ensembl 74_37 -1 known missense c.949 p.S317A 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain - no_errors SKAP2 HGNC ENSG00000005020 47 0 0 41 6 12.766 TTYH3 0 genome.wustl.edu 37 7 2687537 2687537 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 2687537 2687537 C A SNP TTYH3 ENST00000403167 human ensembl 74_37 +1 known missense c.58 p.P20T 0.013 NULL pfam_Tweety - no_errors TTYH3 HGNC ENSG00000136295 19 0 0 24 6 20 HOXA2 0 genome.wustl.edu 37 7 27141056 27141056 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 27141056 27141056 G A SNP HOXA2 ENST00000222718 human ensembl 74_37 -1 known silent c.420 p.G140 0.965 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 49 0 0 39 4 9.30233 HOXA3 0 genome.wustl.edu 37 7 27147767 27147767 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 27147767 27147767 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known missense c.1099 p.V367M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 12 0 0 25 3 10.7143 HOXA3 0 genome.wustl.edu 37 7 27149900 27149900 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 27149900 27149900 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known silent c.360 p.P120 0.968 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 30 0 0 24 4 14.2857 HOXA3 0 genome.wustl.edu 37 7 27150214 27150214 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 27150214 27150214 A G SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known missense c.46 p.Y16H 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 80 0 0 80 5 5.88235 HOXA5 0 genome.wustl.edu 37 7 27182839 27182839 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 27182839 27182839 C T SNP HOXA5 ENST00000222726 human ensembl 74_37 -1 known missense c.388 p.A130T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA5 HGNC ENSG00000106004 47 0 0 30 6 16.6667 GNA12 0 genome.wustl.edu 37 7 2770886 2770886 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 2770886 2770886 C T SNP GNA12 ENST00000275364 human ensembl 74_37 -1 known missense c.1075 p.V359I 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_12 - no_errors GNA12 HGNC ENSG00000146535 112 0 0 83 18 17.8218 CPVL 0 genome.wustl.edu 37 7 29111986 29111986 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 29111986 29111986 G A SNP CPVL ENST00000265394 human ensembl 74_37 -1 known silent c.663 p.N221 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 87 0 0 55 7 11.2903 CPVL 0 genome.wustl.edu 37 7 29160521 29160521 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 29160521 29160521 T C SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.157 p.K53E 0.719 NULL pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 92 0 0 67 4 5.6338 CARD11 0 genome.wustl.edu 37 7 2951840 2951840 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 2951840 2951840 A T SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.3110 p.I1037N 0.999 superfamily_P-loop_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 57 0 0 44 7 13.7255 PLEKHA8 0 genome.wustl.edu 37 7 30094922 30094922 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 30094922 30094922 T A SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known missense c.1003 p.F335I 1.000 pfam_Glycolipid_transfer_prot_dom,superfamily_Glycolipid_transfer_prot_dom pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 143 0 0 110 9 7.56303 NOD1 0 genome.wustl.edu 37 7 30490868 30490868 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 30490868 30490868 T C SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.2165 p.E722G 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 61 0 0 54 4 6.89655 NOD1 0 genome.wustl.edu 37 7 30491688 30491688 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 30491688 30491688 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.1345 p.P449S 0.060 pfscan_NACHT_NTPase 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 49 0 0 55 5 8.33333 CRHR2 0 genome.wustl.edu 37 7 30693176 30693176 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 30693176 30693176 T C SNP CRHR2 ENST00000348438 human ensembl 74_37 -1 known missense c.1217 p.D406G 1.000 prints_GPCR_2_diuretic_rcpt pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors CRHR2 HGNC ENSG00000106113 102 0 0 91 7 7.14286 GHRHR 0 genome.wustl.edu 37 7 31014631 31014631 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 31014631 31014631 A G SNP GHRHR ENST00000409316 human ensembl 74_37 +1 putative missense c.157 p.R53G 0.991 NULL NULL - no_errors GHRHR HGNC ENSG00000106128 62 0 0 60 6 9.09091 ADCYAP1R1 0 genome.wustl.edu 37 7 31102904 31102904 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 31102904 31102904 C T SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known silent c.24 p.S8 0.570 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 69 0 0 62 6 8.82353 CCDC129 0 genome.wustl.edu 37 7 31683452 31683452 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 31683452 31683452 G A SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.2546 p.G849D 0.000 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 80 0 0 68 12 15 KBTBD2 0 genome.wustl.edu 37 7 32909594 32909594 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 32909594 32909594 A G SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known missense c.1235 p.V412A 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 151 0 0 141 10 6.62252 FKBP9 0 genome.wustl.edu 37 7 33042307 33042307 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 33042307 33042307 T C SNP FKBP9 ENST00000538336 human ensembl 74_37 +1 known silent c.1551 p.S517 0.998 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 27 0 0 32 3 8.57143 BBS9 0 genome.wustl.edu 37 7 33303972 33303972 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 33303972 33303972 G T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known nonsense c.688 p.G230* 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 116 0 0 59 5 7.8125 BBS9 0 genome.wustl.edu 37 7 33573721 33573721 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 33573721 33573721 A T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.2454 p.R818S 0.001 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 78 0 0 55 5 8.33333 DPY19L2P1 0 genome.wustl.edu 37 7 35131548 35131548 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 35131548 35131548 G A SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.985 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 113 1 0.877193 96 12 11.1111 EEPD1 0 genome.wustl.edu 37 7 36194118 36194118 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 36194118 36194118 G A SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known missense c.185 p.R62H 1.000 pfam_HhH_motif,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 137 0 0 91 23 20.1754 ELMO1 0 genome.wustl.edu 37 7 36934620 36934620 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 36934620 36934620 T C SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known silent c.1440 p.V480 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 84 0 0 81 7 7.95455 ELMO1 0 genome.wustl.edu 37 7 37172811 37172811 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 37172811 37172811 G A SNP ELMO1 ENST00000310758 human ensembl 74_37 -1 known missense c.1115 p.T372M 1.000 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO1 HGNC ENSG00000155849 154 0 0 115 9 7.25806 NME8 0 genome.wustl.edu 37 7 37907455 37907455 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 37907455 37907455 T C SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.773 p.V258A 0.000 superfamily_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 45 0 0 42 3 6.66667 EPDR1 0 genome.wustl.edu 37 7 37960798 37960798 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 37960798 37960798 T A SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.617 p.I206N 1.000 pfam_Ependymin,smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 35 0 0 32 3 8.57143 STARD3NL 0 genome.wustl.edu 37 7 38247245 38247245 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 38247245 38247245 G A SNP STARD3NL ENST00000009041 human ensembl 74_37 +1 known missense c.140 p.G47D 1.000 NULL pfam_MENTAL - no_errors STARD3NL HGNC ENSG00000010270 125 0 0 103 10 8.84956 CDK13 0 genome.wustl.edu 37 7 40134332 40134332 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 40134332 40134332 A T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.4292 p.H1431L 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 94 0 0 77 5 6.09756 CDK13 0 genome.wustl.edu 37 7 40134336 40134336 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 40134336 40134336 T C SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.4296 p.G1432 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 89 0 0 71 8 10.1266 CDK13 0 genome.wustl.edu 37 7 40134465 40134465 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 40134465 40134465 C T SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known silent c.4425 p.L1475 0.986 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 66 0 0 79 11 12.2222 MPLKIP 0 genome.wustl.edu 37 7 40174145 40174145 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 40174145 40174145 G A SNP MPLKIP ENST00000306984 human ensembl 74_37 -1 known missense c.22 p.P8S 1.000 NULL NULL - no_errors MPLKIP HGNC ENSG00000168303 20 0 0 13 2 13.3333 C7orf10 0 genome.wustl.edu 37 7 40314127 40314127 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 40314127 40314127 C T SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.613 p.R205C 1.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 86 0 0 61 9 12.8571 SDK1 0 genome.wustl.edu 37 7 4116654 4116654 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 4116654 4116654 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.3035 p.Y1012C 0.682 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 30 0 0 38 5 11.6279 SDK1 0 genome.wustl.edu 37 7 4277380 4277380 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 4277380 4277380 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.6094 p.H2032Y 0.998 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 90 0 0 77 11 12.5 STK17A 0 genome.wustl.edu 37 7 43647896 43647896 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 43647896 43647896 G A SNP STK17A ENST00000319357 human ensembl 74_37 +1 known missense c.461 p.R154K 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 STK17A HGNC ENSG00000164543 100 1 0.990099 49 7 12.5 BLVRA 0 genome.wustl.edu 37 7 43830895 43830895 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 43830895 43830895 A G SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known missense c.182 p.D61G 1.000 pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 147 0 0 100 25 20 BLVRA 0 genome.wustl.edu 37 7 43846580 43846580 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 43846580 43846580 C T SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known silent c.637 p.L213 0.914 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 78 0 0 60 4 6.25 URGCP 0 genome.wustl.edu 37 7 43916390 43916390 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 43916390 43916390 A G SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.2672 p.V891A 0.980 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 108 0 0 103 11 9.64912 URGCP 0 genome.wustl.edu 37 7 43917311 43917311 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 43917311 43917311 T C SNP URGCP ENST00000453200 human ensembl 74_37 -1 known missense c.1751 p.Q584R 0.001 NULL superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 47 0 0 50 5 9.09091 POLM 0 genome.wustl.edu 37 7 44116212 44116212 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 44116212 44116212 A G SNP POLM ENST00000242248 human ensembl 74_37 -1 known missense c.731 p.F244S 0.974 pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 63 0 0 75 8 9.63855 MYL7 0 genome.wustl.edu 37 7 44178596 44178596 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 44178596 44178596 G A SNP MYL7 ENST00000223364 human ensembl 74_37 -1 known missense c.452 p.P151L 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL7 HGNC ENSG00000106631 48 0 0 57 5 8.06452 YKT6 0 genome.wustl.edu 37 7 44246004 44246004 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 44246004 44246004 G A SNP YKT6 ENST00000223369 human ensembl 74_37 +1 known missense c.208 p.V70I 1.000 superfamily_Longin-like_dom,pfscan_Longin_dom pfam_Synaptobrevin,superfamily_Longin-like_dom,pfscan_Longin_dom,pfscan_Synaptobrevin - no_errors YKT6 HGNC ENSG00000106636 66 0 0 72 5 6.49351 H2AFV 0 genome.wustl.edu 37 7 44882918 44882918 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 44882918 44882918 G A SNP H2AFV ENST00000308153 human ensembl 74_37 -1 known silent c.39 p.A13 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors H2AFV HGNC ENSG00000105968 71 0 0 56 6 9.67742 TBRG4 0 genome.wustl.edu 37 7 45142067 45142067 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45142067 45142067 C A SNP TBRG4 ENST00000258770 human ensembl 74_37 -1 known missense c.1200 p.E400D 0.009 pfam_FAST_Leu-rich pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors TBRG4 HGNC ENSG00000136270 58 0 0 38 5 11.6279 RAMP3 0 genome.wustl.edu 37 7 45216982 45216982 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45216982 45216982 G A SNP RAMP3 ENST00000242249 human ensembl 74_37 +1 known missense c.133 p.A45T 0.011 pfam_RAMP pfam_RAMP - no_errors RAMP3 HGNC ENSG00000122679 57 0 0 46 8 14.8148 ADCY1 0 genome.wustl.edu 37 7 45717627 45717627 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45717627 45717627 A G SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.1765 p.T589A 1.000 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 94 0 0 68 24 26.087 ADCY1 0 genome.wustl.edu 37 7 45743052 45743052 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45743052 45743052 C T SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known silent c.2532 p.H844 0.997 smart_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY1 HGNC ENSG00000164742 35 0 0 31 5 13.8889 ADCY1 0 genome.wustl.edu 37 7 45750165 45750165 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45750165 45750165 G A SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.2971 p.A991T 0.998 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 ADCY1 HGNC ENSG00000164742 63 0 0 65 9 12.1622 ADCY1 0 genome.wustl.edu 37 7 45750202 45750202 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45750202 45750202 T C SNP ADCY1 ENST00000297323 human ensembl 74_37 +1 known missense c.3008 p.V1003A 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 ADCY1 HGNC ENSG00000164742 55 0 0 54 11 16.9231 IGFBP3 0 genome.wustl.edu 37 7 45957003 45957003 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45957003 45957003 C T SNP IGFBP3 ENST00000381083 human ensembl 74_37 -1 known missense c.457 p.G153S 0.000 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-3,pfscan_Thyroglobulin_1 - no_errors IGFBP3 HGNC ENSG00000146674 74 0 0 47 14 22.9508 TNS3 0 genome.wustl.edu 37 7 47408173 47408173 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 47408173 47408173 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.2070 p.S690 0.229 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 255 1 0.390625 242 18 6.92308 TNS3 0 genome.wustl.edu 37 7 47408194 47408194 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 47408194 47408194 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.2049 p.S683 0.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 265 0 0 237 27 10.2273 TNS3 0 genome.wustl.edu 37 7 47453571 47453571 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 47453571 47453571 T C SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.611 p.Y204C 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 111 0 0 92 10 9.80392 FOXK1 0 genome.wustl.edu 37 7 4780606 4780606 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 4780606 4780606 A G SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.698 p.D233G 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 52 0 0 68 9 11.6883 PKD1L1 0 genome.wustl.edu 37 7 47869198 47869198 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 47869198 47869198 A G SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.6560 p.V2187A 0.167 NULL pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 172 0 0 166 15 8.28729 PKD1L1 0 genome.wustl.edu 37 7 47894797 47894797 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 47894797 47894797 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.4657 p.L1553 0.467 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 94 0 0 86 9 9.47368 PKD1L1 0 genome.wustl.edu 37 7 47897384 47897384 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 47897384 47897384 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.4409 p.R1470Q 0.000 pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 65 0 0 71 12 14.4578 PKD1L1 0 genome.wustl.edu 37 7 47906161 47906161 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 47906161 47906161 G A SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known silent c.3948 p.Y1316 0.002 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 106 0 0 94 9 8.73786 AP5Z1 0 genome.wustl.edu 37 7 4825911 4825911 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 4825911 4825911 T A SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known missense c.1163 p.V388D 0.035 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 32 0 0 55 7 11.2903 ABCA13 0 genome.wustl.edu 37 7 48315257 48315257 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 48315257 48315257 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.5994 p.I1998 0.002 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 23 0 0 15 4 21.0526 ABCA13 0 genome.wustl.edu 37 7 48315591 48315591 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 48315591 48315591 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.6328 p.S2110P 0.004 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 50 0 0 40 4 9.09091 ABCA13 0 genome.wustl.edu 37 7 48318231 48318231 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 48318231 48318231 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.7440 p.G2480 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 263 0 0 228 21 8.43373 ABCA13 0 genome.wustl.edu 37 7 48318639 48318639 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 48318639 48318639 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.7848 p.S2616 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 79 0 0 55 6 9.83607 ABCA13 0 genome.wustl.edu 37 7 48337993 48337993 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 48337993 48337993 T C SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.9230 p.I3077T 0.051 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 69 0 0 41 9 18 PAPOLB 0 genome.wustl.edu 37 7 4901085 4901085 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 4901085 4901085 G A SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known silent c.354 p.C118 0.997 pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 58 0 0 25 11 30.5556 MMD2 0 genome.wustl.edu 37 7 4965157 4965157 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 4965157 4965157 C T SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.54 p.M18I 1.000 NULL pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 133 0 0 113 14 11.0236 VWC2 0 genome.wustl.edu 37 7 49951753 49951753 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 49951753 49951753 G A SNP VWC2 ENST00000340652 human ensembl 74_37 +1 known missense c.950 p.C317Y 1.000 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors VWC2 HGNC ENSG00000188730 80 0 0 64 10 13.5135 FIGNL1 0 genome.wustl.edu 37 7 50513108 50513108 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 50513108 50513108 A G SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known silent c.1878 p.A626 0.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 65 0 0 69 4 5.47945 FIGNL1 0 genome.wustl.edu 37 7 50513894 50513894 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 50513894 50513894 T A SNP FIGNL1 ENST00000356889 human ensembl 74_37 -1 known silent c.1092 p.G364 0.000 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 151 0 0 142 15 9.55414 DDC 0 genome.wustl.edu 37 7 50535009 50535009 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 50535009 50535009 A G SNP DDC ENST00000357936 human ensembl 74_37 -1 known missense c.1145 p.V382A 0.946 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 102 0 0 96 11 10.2804 RBAK 0 genome.wustl.edu 37 7 5104918 5104918 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 5104918 5104918 A G SNP RBAK ENST00000353796 human ensembl 74_37 +1 known missense c.1831 p.T611A 0.529 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 RBAK HGNC ENSG00000146587 74 0 0 50 8 13.7931 COBL 0 genome.wustl.edu 37 7 51095676 51095676 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 51095676 51095676 G A SNP COBL ENST00000395542 human ensembl 74_37 -1 known silent c.3363 p.G1121 0.006 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 56 0 0 76 4 5 COBL 0 genome.wustl.edu 37 7 51096557 51096557 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 51096557 51096557 C A SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2482 p.G828C 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 64 0 0 61 8 11.5942 COBL 0 genome.wustl.edu 37 7 51096763 51096763 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 51096763 51096763 T A SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2276 p.N759I 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 137 0 0 122 16 11.5942 WIPI2 0 genome.wustl.edu 37 7 5232779 5232779 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 5232779 5232779 T A SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known silent c.105 p.G35 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 140 0 0 117 8 6.4 WIPI2 0 genome.wustl.edu 37 7 5265492 5265492 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 5265492 5265492 G A SNP WIPI2 ENST00000288828 human ensembl 74_37 +1 known missense c.779 p.G260D 0.935 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WIPI2 HGNC ENSG00000157954 37 0 0 39 3 7.14286 TNRC18 0 genome.wustl.edu 37 7 5352438 5352438 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 5352438 5352438 G A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.8084 p.A2695V 0.005 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 20 0 0 5 3 37.5 TNRC18 0 genome.wustl.edu 37 7 5427427 5427427 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 5427427 5427427 T A SNP TNRC18 ENST00000399537 human ensembl 74_37 -1 known missense c.2028 p.E676D 0.993 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors TNRC18 HGNC ENSG00000182095 41 0 0 38 7 15.5556 EGFR 0 genome.wustl.edu 37 7 55229200 55229200 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 55229200 55229200 G T SNP EGFR ENST00000275493 human ensembl 74_37 +1 known missense c.1507 p.G503C 0.008 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,smart_Furin_repeat pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EGFR HGNC ENSG00000146648 82 0 0 70 6 7.89474 LANCL2 0 genome.wustl.edu 37 7 55496101 55496101 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 55496101 55496101 G A SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known missense c.1219 p.G407R 1.000 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 75 0 0 57 11 16.1765 CCT6A 0 genome.wustl.edu 37 7 56129476 56129476 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 56129476 56129476 A T SNP CCT6A ENST00000275603 human ensembl 74_37 +1 known missense c.1384 p.T462S 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6A HGNC ENSG00000146731 61 0 0 42 5 10.6383 SUMF2 0 genome.wustl.edu 37 7 56132072 56132072 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 56132072 56132072 G A SNP SUMF2 ENST00000342190 human ensembl 74_37 +1 known splice_site c.124+1 e1+1 1.000 - - - no_errors SUMF2 HGNC ENSG00000129103 13 0 0 19 5 20.8333 SUMF2 0 genome.wustl.edu 37 7 56146161 56146161 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 56146161 56146161 G A SNP SUMF2 ENST00000434526 human ensembl 74_37 +1 known missense c.838 p.A280T 0.055 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 43 0 0 27 4 12.9032 EIF2AK1 0 genome.wustl.edu 37 7 6064312 6064312 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 6064312 6064312 C T SNP EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known missense c.1885 p.V629M 0.000 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 EIF2AK1 HGNC ENSG00000086232 123 1 0.806452 96 23 19.3277 USP42 0 genome.wustl.edu 37 7 6193762 6193762 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 6193762 6193762 G A SNP USP42 ENST00000306177 human ensembl 74_37 +1 known silent c.2577 p.P859 0.338 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 42 0 0 51 4 7.27273 ZNF680 0 genome.wustl.edu 37 7 63982663 63982663 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 63982663 63982663 C T SNP ZNF680 ENST00000309683 human ensembl 74_37 -1 known missense c.469 p.D157N 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF680 HGNC ENSG00000173041 65 0 0 35 4 10.2564 ZNF138 0 genome.wustl.edu 37 7 64291846 64291846 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 64291846 64291846 G A SNP ZNF138 ENST00000359735 human ensembl 74_37 +1 known missense c.55 p.A19T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF138 HGNC ENSG00000197008 130 0 0 80 12 13.0435 ZNF273 0 genome.wustl.edu 37 7 64377979 64377979 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 64377979 64377979 T C SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known silent c.123 p.D41 0.735 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 162 0 0 123 13 9.55882 ZNF117 0 genome.wustl.edu 37 7 64438701 64438701 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 64438701 64438701 G A SNP ZNF117 ENST00000282869 human ensembl 74_37 -1 known silent c.1248 p.L416 0.002 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 105 0 0 82 11 11.828 CRCP 0 genome.wustl.edu 37 7 65599349 65599349 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 65599349 65599349 A G SNP CRCP ENST00000395326 human ensembl 74_37 +1 known missense c.227 p.H76R 1.000 pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core pfam_RNA_pol_II_Rpb4,superfamily_HRDC-like,smart_RNA_pol_II_Rpb4_core - no_errors CRCP HGNC ENSG00000241258 150 0 0 100 8 7.40741 TPST1 0 genome.wustl.edu 37 7 65705699 65705699 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 65705699 65705699 G A SNP TPST1 ENST00000304842 human ensembl 74_37 +1 known missense c.287 p.R96H 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST1 HGNC ENSG00000169902 88 0 0 62 8 11.4286 TYW1 0 genome.wustl.edu 37 7 66582482 66582482 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 66582482 66582482 G A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known silent c.1575 p.P525 0.883 pfam_rSAM pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 101 1 0.980392 68 10 12.8205 PMS2P4 0 genome.wustl.edu 37 7 66764405 66764405 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 66764405 66764405 T C SNP PMS2P4 ENST00000414507 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors PMS2P4 HGNC ENSG00000067601 274 0 0 219 18 7.59494 PMS2CL 0 genome.wustl.edu 37 7 6776735 6776735 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 6776735 6776735 T C SNP PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PMS2CL HGNC ENSG00000187953 81 0 0 68 4 5.55556 AUTS2 0 genome.wustl.edu 37 7 70255176 70255176 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 70255176 70255176 C T SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known silent c.2974 p.L992 0.473 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 28 0 0 23 4 14.8148 WBSCR17 0 genome.wustl.edu 37 7 70880917 70880917 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 70880917 70880917 A G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.632 p.Y211C 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 44 0 0 31 7 18.4211 WBSCR17 0 genome.wustl.edu 37 7 71135084 71135084 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 71135084 71135084 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.1394 p.A465V 0.004 superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 250 0 0 175 13 6.91489 TYW1B 0 genome.wustl.edu 37 7 72209569 72209569 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 72209569 72209569 G A SNP TYW1B ENST00000438904 human ensembl 74_37 -1 known missense c.974 p.P325L 1.000 NULL pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1B HGNC ENSG00000254184 72 0 0 60 7 10.4478 MLXIPL 0 genome.wustl.edu 37 7 73010717 73010717 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73010717 73010717 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known missense c.1915 p.R639W 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 72 0 0 70 26 27.0833 CLDN4 0 genome.wustl.edu 37 7 73245601 73245601 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73245601 73245601 T C SNP CLDN4 ENST00000340958 human ensembl 74_37 +1 known missense c.70 p.C24R 0.999 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4 - no_errors CLDN4 HGNC ENSG00000189143 41 0 0 50 4 7.40741 CLDN4 0 genome.wustl.edu 37 7 73246012 73246012 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73246012 73246012 G T SNP CLDN4 ENST00000340958 human ensembl 74_37 +1 known missense c.481 p.G161C 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin4 - no_errors CLDN4 HGNC ENSG00000189143 46 0 0 54 5 8.47458 ELN 0 genome.wustl.edu 37 7 73462877 73462877 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73462877 73462877 G A SNP ELN ENST00000358929 human ensembl 74_37 +1 known missense c.790 p.A264T 0.976 NULL prints_Tropoelastin - no_errors ELN HGNC ENSG00000049540 42 0 0 52 9 14.7541 LIMK1 0 genome.wustl.edu 37 7 73510954 73510954 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73510954 73510954 G A SNP LIMK1 ENST00000336180 human ensembl 74_37 +1 known missense c.155 p.C52Y 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 60 0 0 45 8 15.0943 EIF4H 0 genome.wustl.edu 37 7 73604186 73604186 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73604186 73604186 C A SNP EIF4H ENST00000265753 human ensembl 74_37 +1 known missense c.347 p.A116E 1.000 pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ENSG00000106682 81 0 0 79 5 5.95238 RFC2 0 genome.wustl.edu 37 7 73666758 73666758 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73666758 73666758 C T SNP RFC2 ENST00000055077 human ensembl 74_37 -1 known splice_site c.183+1 e2+1 1.000 - - - no_errors RFC2 HGNC ENSG00000049541 64 0 0 65 7 9.72222 CLIP2 0 genome.wustl.edu 37 7 73731916 73731916 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73731916 73731916 G A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.40 p.G14R 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 87 0 0 119 10 7.75194 GTF2IRD1 0 genome.wustl.edu 37 7 73935629 73935629 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 73935629 73935629 T C SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known splice_site c.1006+2 e6+2 1.000 - - - no_errors GTF2IRD1 HGNC ENSG00000006704 46 0 0 48 3 5.88235 COL28A1 0 genome.wustl.edu 37 7 7476083 7476083 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 7476083 7476083 T C SNP COL28A1 ENST00000399429 human ensembl 74_37 -1 known silent c.1803 p.G601 1.000 NULL pfam_Collagen,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m - no_errors COL28A1 HGNC ENSG00000215018 91 0 0 59 5 7.8125 POM121C 0 genome.wustl.edu 37 7 75068445 75068445 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 75068445 75068445 T C SNP POM121C ENST00000257665 human ensembl 74_37 -1 known silent c.1011 p.G337 0.999 NULL NULL - no_errors POM121C HGNC ENSG00000135213 221 0 0 157 11 6.54762 RHBDD2 0 genome.wustl.edu 37 7 75517387 75517387 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 75517387 75517387 C T SNP RHBDD2 ENST00000006777 human ensembl 74_37 +1 known missense c.815 p.T272M 1.000 NULL pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDD2 HGNC ENSG00000005486 123 0 0 115 33 22.2973 POR 0 genome.wustl.edu 37 7 75614176 75614176 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 75614176 75614176 C T SNP POR ENST00000461988 human ensembl 74_37 +1 known missense c.1148 p.P383L 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 56 0 0 48 5 9.43396 YWHAG 0 genome.wustl.edu 37 7 75959437 75959437 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 75959437 75959437 C T SNP YWHAG ENST00000307630 human ensembl 74_37 -1 known silent c.201 p.E67 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 YWHAG HGNC ENSG00000170027 176 0 0 124 15 10.7914 DTX2 0 genome.wustl.edu 37 7 76126704 76126704 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 76126704 76126704 C T SNP DTX2 ENST00000324432 human ensembl 74_37 +1 known missense c.1060 p.R354C 1.000 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX2 HGNC ENSG00000091073 131 0 0 121 13 9.70149 MIOS 0 genome.wustl.edu 37 7 7625282 7625282 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 7625282 7625282 A G SNP MIOS ENST00000340080 human ensembl 74_37 +1 known missense c.1664 p.N555S 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 146 0 0 80 27 25.2336 MIOS 0 genome.wustl.edu 37 7 7636009 7636009 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 7636009 7636009 C T SNP MIOS ENST00000340080 human ensembl 74_37 +1 known missense c.2318 p.T773I 1.000 NULL smart_WD40_repeat - no_errors MIOS HGNC ENSG00000164654 162 0 0 113 10 8.13008 FGL2 0 genome.wustl.edu 37 7 76825713 76825713 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 76825713 76825713 G A SNP FGL2 ENST00000248598 human ensembl 74_37 -1 known silent c.1203 p.V401 0.998 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL2 HGNC ENSG00000127951 68 0 0 43 13 23.2143 FGL2 0 genome.wustl.edu 37 7 76829058 76829058 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 76829058 76829058 C A SNP FGL2 ENST00000248598 human ensembl 74_37 -1 known missense c.53 p.G18V 0.001 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGL2 HGNC ENSG00000127951 93 0 0 71 7 8.97436 MAGI2 0 genome.wustl.edu 37 7 77708270 77708270 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 77708270 77708270 C A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known nonsense c.3700 p.E1234* 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 140 0 0 108 10 8.47458 MAGI2 0 genome.wustl.edu 37 7 77789472 77789472 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 77789472 77789472 G T SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.2715 p.A905 1.000 superfamily_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 71 0 0 63 8 11.2676 HGF 0 genome.wustl.edu 37 7 81374395 81374395 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 81374395 81374395 T C SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.667 p.M223V 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 73 0 0 48 4 7.69231 HGF 0 genome.wustl.edu 37 7 81381566 81381566 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 81381566 81381566 C T SNP HGF ENST00000222390 human ensembl 74_37 -1 known silent c.495 p.S165 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 88 0 0 70 14 16.6667 PCLO 0 genome.wustl.edu 37 7 82579252 82579252 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 82579252 82579252 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10652 p.K3551R 1.000 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 95 0 0 80 9 10.1124 PCLO 0 genome.wustl.edu 37 7 82583904 82583904 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 82583904 82583904 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.6365 p.S2122I 1.000 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 67 0 0 59 4 6.34921 ICA1 0 genome.wustl.edu 37 7 8272362 8272362 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 8272362 8272362 T A SNP ICA1 ENST00000422063 human ensembl 74_37 -1 known missense c.41 p.D14V 0.740 NULL pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 122 0 0 83 11 11.7021 PCLO 0 genome.wustl.edu 37 7 82763785 82763785 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 82763785 82763785 T A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.3081 p.P1027 0.000 superfamily_Znf_FYVE_PHD 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 62 0 0 35 15 30 PCLO 0 genome.wustl.edu 37 7 82784146 82784146 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 82784146 82784146 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.1811 p.K604R 1.000 pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD 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 267 0 0 187 14 6.96517 PCLO 0 genome.wustl.edu 37 7 82785615 82785615 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 82785615 82785615 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.342 p.R114S 1.000 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 95 0 0 58 5 7.93651 SEMA3D 0 genome.wustl.edu 37 7 84671486 84671486 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 84671486 84671486 C T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known splice_site c.976+1 e8+1 1.000 - - - no_errors SEMA3D HGNC ENSG00000153993 313 0 0 222 23 9.38776 KIAA1324L 0 genome.wustl.edu 37 7 86541542 86541542 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 86541542 86541542 C T SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2015 p.S672N 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 156 0 0 107 23 17.6923 DMTF1 0 genome.wustl.edu 37 7 86802919 86802919 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 86802919 86802919 A G SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known silent c.396 p.Q132 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 81 0 0 66 6 8.33333 DMTF1 0 genome.wustl.edu 37 7 86824348 86824348 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 86824348 86824348 T A SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known missense c.2175 p.D725E 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 140 0 0 90 7 7.21649 ABCB1 0 genome.wustl.edu 37 7 87179871 87179871 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87179871 87179871 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known silent c.1137 p.S379 0.052 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 115 0 0 61 16 20.7792 DBF4 0 genome.wustl.edu 37 7 87507464 87507464 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87507464 87507464 G A SNP DBF4 ENST00000265728 human ensembl 74_37 +1 known missense c.143 p.G48E 1.000 superfamily_BRCT_dom pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 245 0 0 149 9 5.6962 DBF4 0 genome.wustl.edu 37 7 87516180 87516180 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87516180 87516180 T A SNP DBF4 ENST00000265728 human ensembl 74_37 +1 known missense c.421 p.L141I 1.000 superfamily_BRCT_dom pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC ENSG00000006634 186 0 0 117 10 7.87402 ADAM22 0 genome.wustl.edu 37 7 87760680 87760680 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87760680 87760680 A G SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.922 p.T308A 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 89 0 0 59 6 9.23077 ADAM22 0 genome.wustl.edu 37 7 87780325 87780325 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87780325 87780325 A T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known silent c.1596 p.G532 0.759 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 181 0 0 117 31 20.9459 STEAP4 0 genome.wustl.edu 37 7 87912203 87912203 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87912203 87912203 A G SNP STEAP4 ENST00000380079 human ensembl 74_37 -1 known missense c.737 p.I246T 0.959 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP4 HGNC ENSG00000127954 98 0 0 82 7 7.86517 C7orf62 0 genome.wustl.edu 37 7 88424168 88424168 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 88424168 88424168 T C SNP C7orf62 ENST00000297203 human ensembl 74_37 -1 known missense c.89 p.Y30C 1.000 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 178 0 0 148 15 9.20245 ZNF804B 0 genome.wustl.edu 37 7 88847605 88847605 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 88847605 88847605 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.245 p.K82T 1.000 pfam_Znf_C2H2_jaz pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 86 0 0 90 7 7.21649 STEAP2 0 genome.wustl.edu 37 7 89854552 89854552 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 89854552 89854552 C T SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known silent c.156 p.C52 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 109 0 0 61 14 18.6667 STEAP2 0 genome.wustl.edu 37 7 89856621 89856621 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 89856621 89856621 G T SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known missense c.829 p.A277S 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 101 0 0 91 11 10.7843 GTPBP10 0 genome.wustl.edu 37 7 90014459 90014459 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 90014459 90014459 T C SNP GTPBP10 ENST00000222511 human ensembl 74_37 +1 known silent c.1155 p.D385 0.000 pirsf_GTP-bd_Obg/CgtA pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain - no_errors GTPBP10 HGNC ENSG00000105793 126 0 0 73 6 7.59494 CDK14 0 genome.wustl.edu 37 7 90356055 90356055 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 90356055 90356055 T C SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.298 p.C100R 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 CDK14 HGNC ENSG00000058091 93 0 0 67 8 10.6667 FZD1 0 genome.wustl.edu 37 7 90895558 90895558 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 90895558 90895558 C T SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known missense c.1363 p.P455S 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 82 0 0 76 11 12.6437 MTERF 0 genome.wustl.edu 37 7 91503256 91503256 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 91503256 91503256 A G SNP MTERF ENST00000351870 human ensembl 74_37 -1 known silent c.852 p.L284 1.000 pfam_Mit_transcrip_term-rel pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC ENSG00000127989 77 0 0 57 3 5 AKAP9 0 genome.wustl.edu 37 7 91708815 91708815 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 91708815 91708815 T A SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.7404 p.D2468E 0.010 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 88 0 0 74 8 9.7561 ANKIB1 0 genome.wustl.edu 37 7 92020590 92020590 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 92020590 92020590 G A SNP ANKIB1 ENST00000265742 human ensembl 74_37 +1 known silent c.2163 p.R721 1.000 NULL pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 79 0 0 70 7 9.09091 PEX1 0 genome.wustl.edu 37 7 92129140 92129140 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 92129140 92129140 A C SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.2596 p.F866V 1.000 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 120 0 0 83 6 6.74157 CDK6 0 genome.wustl.edu 37 7 92247520 92247520 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 92247520 92247520 C T SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known missense c.700 p.V234M 0.931 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK6 HGNC ENSG00000105810 54 0 0 54 6 10 CDK6 0 genome.wustl.edu 37 7 92404119 92404119 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 92404119 92404119 C T SNP CDK6 ENST00000265734 human ensembl 74_37 -1 known missense c.260 p.R87Q 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 CDK6 HGNC ENSG00000105810 81 0 0 51 7 12.069 SAMD9 0 genome.wustl.edu 37 7 92734465 92734465 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 92734465 92734465 A T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.946 p.C316S 0.985 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 96 0 0 73 8 9.87654 SAMD9 0 genome.wustl.edu 37 7 92735292 92735292 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 92735292 92735292 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.119 p.D40G 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 180 0 0 126 9 6.66667 SAMD9L 0 genome.wustl.edu 37 7 92760589 92760589 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 92760589 92760589 A G SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.4696 p.S1566P 0.575 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 65 0 0 55 6 9.83607 CASD1 0 genome.wustl.edu 37 7 94146970 94146970 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 94146970 94146970 T C SNP CASD1 ENST00000297273 human ensembl 74_37 +1 known splice_site c.230+2 e2+2 1.000 - - - no_errors CASD1 HGNC ENSG00000127995 84 0 0 57 4 6.55738 PPP1R9A 0 genome.wustl.edu 37 7 94827660 94827660 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 94827660 94827660 G T SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known splice_site c.1755-1 e5-1 1.000 - - - no_errors PPP1R9A HGNC ENSG00000158528 76 0 0 68 7 9.33333 PPP1R9A 0 genome.wustl.edu 37 7 94879417 94879417 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 94879417 94879417 A G SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.2180 p.E727G 1.000 superfamily_Smac_DIABLO-like pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 62 0 0 52 3 5.45455 PON1 0 genome.wustl.edu 37 7 94944662 94944662 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 94944662 94944662 A C SNP PON1 ENST00000222381 human ensembl 74_37 -1 known silent c.342 p.P114 1.000 NULL pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 68 0 0 51 5 8.92857 PON1 0 genome.wustl.edu 37 7 95025597 95025597 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 95025597 95025597 C G SNP PON1 ENST00000542556 human ensembl 74_37 -1 known silent c.66 p.L22 0.010 prints_Paraoxonase2 pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2,prints_Paraoxonase1 - no_errors PON1 HGNC ENSG00000005421 97 0 0 92 7 7.07071 SLC25A13 0 genome.wustl.edu 37 7 95813609 95813609 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 95813609 95813609 C T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1160 p.G387D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 115 0 0 86 7 7.52688 SLC25A13 0 genome.wustl.edu 37 7 95814285 95814285 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 95814285 95814285 T C SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known silent c.975 p.Q325 0.003 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 115 0 0 84 8 8.69565 DLX6 0 genome.wustl.edu 37 7 96639170 96639170 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 96639170 96639170 T A SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known missense c.693 p.N231K 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 104 0 0 68 16 19.0476 DLX5 0 genome.wustl.edu 37 7 96650040 96650040 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 96650040 96650040 C T SNP DLX5 ENST00000493764 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DLX5 HGNC ENSG00000105880 65 0 0 65 8 10.9589 ASNS 0 genome.wustl.edu 37 7 97498452 97498452 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 97498452 97498452 G A SNP ASNS ENST00000175506 human ensembl 74_37 -1 known missense c.17 p.A6V 1.000 tigrfam_Asn_synth_AEB pfam_Asn_synthase,pfam_GATase_dom,tigrfam_Asn_synth_AEB - no_errors ASNS HGNC ENSG00000070669 64 0 0 42 9 17.6471 LMTK2 0 genome.wustl.edu 37 7 97766717 97766717 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 97766717 97766717 G A SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.194 p.C65Y 1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 94 0 0 51 4 7.27273 LMTK2 0 genome.wustl.edu 37 7 97823866 97823866 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 97823866 97823866 A G SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known silent c.4089 p.T1363 0.054 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 56 0 0 48 4 7.69231 TECPR1 0 genome.wustl.edu 37 7 97860361 97860361 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 97860361 97860361 A G SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known missense c.2197 p.W733R 1.000 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 21 0 0 20 4 16.6667 TRRAP 0 genome.wustl.edu 37 7 98513399 98513399 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 98513399 98513399 G T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.2253 p.K751N 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 108 0 0 98 7 6.66667 TRRAP 0 genome.wustl.edu 37 7 98530903 98530903 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 98530903 98530903 C A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known silent c.3892 p.R1298 0.014 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 26 0 0 25 5 16.6667 TRRAP 0 genome.wustl.edu 37 7 98533266 98533266 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 98533266 98533266 C T SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.4079 p.P1360L 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 56 0 0 46 4 8 SMURF1 0 genome.wustl.edu 37 7 98655120 98655120 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 98655120 98655120 A T SNP SMURF1 ENST00000361125 human ensembl 74_37 -1 known silent c.258 p.I86 0.998 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors SMURF1 HGNC ENSG00000198742 84 0 0 56 8 12.5 PDAP1 0 genome.wustl.edu 37 7 99002518 99002518 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99002518 99002518 G A SNP PDAP1 ENST00000350498 human ensembl 74_37 -1 known silent c.72 p.D24 0.992 NULL pfam_Casein_kinase_sb_PP28 - no_errors PDAP1 HGNC ENSG00000106244 41 0 0 50 5 9.09091 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99021445 99021445 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99021445 99021445 T C SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.2020 p.I674V 1.000 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 134 0 0 147 8 5.16129 ATP5J2-PTCD1 0 genome.wustl.edu 37 7 99022974 99022974 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99022974 99022974 T C SNP ATP5J2-PTCD1 ENST00000413834 human ensembl 74_37 -1 known missense c.1328 p.Q443R 0.002 NULL pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat - no_errors ATP5J2-PTCD1 HGNC ENSG00000248919 100 1 0.990099 99 10 9.17431 ZNF789 0 genome.wustl.edu 37 7 99084466 99084466 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99084466 99084466 G A SNP ZNF789 ENST00000331410 human ensembl 74_37 +1 known silent c.633 p.R211 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF789 HGNC ENSG00000198556 139 0 0 98 9 8.41121 ZNF394 0 genome.wustl.edu 37 7 99092051 99092051 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99092051 99092051 C A SNP ZNF394 ENST00000337673 human ensembl 74_37 -1 known nonsense c.787 p.G263* 0.692 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF394 HGNC ENSG00000160908 154 1 0.645161 141 13 8.44156 ZKSCAN5 0 genome.wustl.edu 37 7 99129621 99129621 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99129621 99129621 T C SNP ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known missense c.2269 p.C757R 0.811 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 97 0 0 93 10 9.70874 ZSCAN25 0 genome.wustl.edu 37 7 99227533 99227533 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99227533 99227533 A G SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known missense c.1525 p.T509A 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN25 HGNC ENSG00000197037 26 0 0 30 4 11.7647 CYP3A4 0 genome.wustl.edu 37 7 99366086 99366086 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99366086 99366086 T C SNP CYP3A4 ENST00000336411 human ensembl 74_37 -1 known silent c.561 p.T187 0.895 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A4 HGNC ENSG00000160868 119 0 0 88 6 6.38298 GJC3 0 genome.wustl.edu 37 7 99526644 99526644 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99526644 99526644 A C SNP GJC3 ENST00000312891 human ensembl 74_37 -1 known silent c.600 p.G200 1.000 pfam_Connexin_CCC,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJC3 HGNC ENSG00000176402 94 0 0 91 11 10.7843 ZKSCAN1 0 genome.wustl.edu 37 7 99631365 99631365 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99631365 99631365 G A SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.1237 p.A413T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 160 0 0 172 15 8.02139 GAL3ST4 0 genome.wustl.edu 37 7 99757655 99757655 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99757655 99757655 G A SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known missense c.1357 p.R453C 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 50 0 0 53 23 30.2632 STAG3 0 genome.wustl.edu 37 7 99811392 99811392 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99811392 99811392 G A SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known missense c.3632 p.G1211E 0.641 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 153 0 0 97 41 29.7101 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99965089 99965089 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99965089 99965089 T C SNP STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 23 0 0 17 4 19.0476 VPS13B 0 genome.wustl.edu 37 8 100050747 100050747 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 100050747 100050747 A G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.244 p.T82A 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 58 0 0 66 4 5.71429 VPS13B 0 genome.wustl.edu 37 8 100729416 100729416 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 100729416 100729416 T A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.6547 p.S2183T 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 82 0 0 70 9 11.3924 RGS22 0 genome.wustl.edu 37 8 101020754 101020754 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 101020754 101020754 A G SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.2210 p.I737T 0.998 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 62 0 0 60 7 10.4478 FBXO43 0 genome.wustl.edu 37 8 101153423 101153423 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 101153423 101153423 A G SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known silent c.1059 p.G353 0.962 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 150 0 0 201 15 6.94444 SPAG1 0 genome.wustl.edu 37 8 101203638 101203638 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 101203638 101203638 A G SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.853 p.T285A 0.999 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 85 0 0 89 7 7.29167 SPAG1 0 genome.wustl.edu 37 8 101237493 101237493 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 101237493 101237493 C A SNP SPAG1 ENST00000251809 human ensembl 74_37 +1 known missense c.1781 p.A594D 0.002 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 75 0 0 62 8 11.4286 GRHL2 0 genome.wustl.edu 37 8 102589676 102589676 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 102589676 102589676 A T SNP GRHL2 ENST00000251808 human ensembl 74_37 +1 known missense c.932 p.D311V 0.998 pfam_CP2 pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 117 0 0 139 8 5.44218 RRM2B 0 genome.wustl.edu 37 8 103236354 103236354 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 103236354 103236354 T C SNP RRM2B ENST00000251810 human ensembl 74_37 -1 known missense c.470 p.N157S 1.000 pfam_RNR_small,superfamily_Ferritin-like_SF pfam_RNR_small,superfamily_Ferritin-like_SF - no_errors RRM2B HGNC ENSG00000048392 223 0 0 212 29 12.0332 ODF1 0 genome.wustl.edu 37 8 103564230 103564230 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 103564230 103564230 G T SNP ODF1 ENST00000285402 human ensembl 74_37 +1 known missense c.275 p.R92M 1.000 NULL pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom - no_errors ODF1 HGNC ENSG00000155087 138 1 0.719424 173 32 15.6098 ATP6V1C1 0 genome.wustl.edu 37 8 104078589 104078589 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 104078589 104078589 C T SNP ATP6V1C1 ENST00000395862 human ensembl 74_37 +1 known missense c.967 p.P323S 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C1 HGNC ENSG00000155097 82 0 0 85 5 5.55556 RP1L1 0 genome.wustl.edu 37 8 10464716 10464716 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10464716 10464716 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6892 p.P2298S 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 221 0 0 300 56 15.7303 RP1L1 0 genome.wustl.edu 37 8 10465537 10465537 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10465537 10465537 T C SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6071 p.E2024G 0.381 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 249 1 0.4 360 23 6.00522 RP1L1 0 genome.wustl.edu 37 8 10466551 10466551 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10466551 10466551 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.5057 p.A1686V 0.989 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 104 0 0 120 12 9.09091 RP1L1 0 genome.wustl.edu 37 8 10466938 10466938 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10466938 10466938 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.4670 p.A1557V 0.323 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 27 0 0 34 4 10.5263 RP1L1 0 genome.wustl.edu 37 8 10468315 10468315 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10468315 10468315 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.3293 p.S1098N 1.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 90 0 0 139 8 5.44218 RP1L1 0 genome.wustl.edu 37 8 10468389 10468389 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10468389 10468389 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known silent c.3219 p.R1073 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 31 0 0 37 3 7.5 RP1L1 0 genome.wustl.edu 37 8 10469390 10469390 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10469390 10469390 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.2218 p.V740I 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 45 0 0 78 11 12.3596 RIMS2 0 genome.wustl.edu 37 8 104898191 104898191 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 104898191 104898191 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1364 p.R455Q 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 79 0 0 79 14 15.0538 RIMS2 0 genome.wustl.edu 37 8 104955055 104955055 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 104955055 104955055 C A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2602 p.L868I 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 53 0 0 64 5 7.24638 DCSTAMP 0 genome.wustl.edu 37 8 105361020 105361020 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 105361020 105361020 T C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known silent c.240 p.C80 0.118 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 102 0 0 117 17 12.6866 LRP12 0 genome.wustl.edu 37 8 105521172 105521172 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 105521172 105521172 A G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known silent c.210 p.T70 0.996 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 99 0 0 107 21 16.4062 LRP12 0 genome.wustl.edu 37 8 105521252 105521252 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 105521252 105521252 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.130 p.S44R 0.998 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 169 0 0 169 11 6.11111 TMEM74 0 genome.wustl.edu 37 8 109796927 109796927 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 109796927 109796927 T C SNP TMEM74 ENST00000297459 human ensembl 74_37 -1 known missense c.401 p.N134S 0.000 NULL NULL - no_errors TMEM74 HGNC ENSG00000164841 125 0 0 162 22 11.9565 PKHD1L1 0 genome.wustl.edu 37 8 110471910 110471910 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110471910 110471910 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.7091 p.Y2364C 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 37 0 0 42 6 12.5 PKHD1L1 0 genome.wustl.edu 37 8 110535613 110535613 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110535613 110535613 C T SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.12482 p.T4161I 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 167 0 0 174 10 5.43478 EBAG9 0 genome.wustl.edu 37 8 110575641 110575641 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110575641 110575641 A T SNP EBAG9 ENST00000531677 human ensembl 74_37 +1 novel silent c.537 p.V179 0.000 pirsf_Cancer-assoc_antigen_RCAS1 pirsf_Cancer-assoc_antigen_RCAS1 - no_errors EBAG9 HGNC ENSG00000147654 398 0 0 498 30 5.68182 XKR6 0 genome.wustl.edu 37 8 11058241 11058241 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 11058241 11058241 C G SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.608 p.G203A 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 12 0 0 21 5 19.2308 SYBU 0 genome.wustl.edu 37 8 110587443 110587443 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110587443 110587443 C T SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1684 p.A562T 0.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 92 0 0 97 14 12.6126 SYBU 0 genome.wustl.edu 37 8 110588041 110588041 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110588041 110588041 T C SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.1086 p.I362M 0.856 NULL NULL - no_errors SYBU HGNC ENSG00000147642 119 0 0 127 7 5.22388 SYBU 0 genome.wustl.edu 37 8 110588192 110588192 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110588192 110588192 T A SNP SYBU ENST00000276646 human ensembl 74_37 -1 known missense c.935 p.D312V 1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 95 0 0 127 7 5.22388 KCNV1 0 genome.wustl.edu 37 8 110984530 110984530 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110984530 110984530 C T SNP KCNV1 ENST00000297404 human ensembl 74_37 -1 known silent c.948 p.L316 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 54 0 0 68 9 11.6883 MTMR9 0 genome.wustl.edu 37 8 11167152 11167152 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 11167152 11167152 A G SNP MTMR9 ENST00000221086 human ensembl 74_37 +1 known missense c.926 p.K309R 1.000 NULL pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 95 0 0 100 6 5.66038 SLC35G5 0 genome.wustl.edu 37 8 11189446 11189446 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 11189446 11189446 C A SNP SLC35G5 ENST00000382435 human ensembl 74_37 +1 known silent c.831 p.A277 0.999 pfam_DMT pfam_DMT - no_errors SLC35G5 HGNC ENSG00000177710 148 1 0.671141 181 35 16.2037 CSMD3 0 genome.wustl.edu 37 8 113241000 113241000 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 113241000 113241000 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10949 p.Y3650S 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 107 0 0 94 5 5.05051 CSMD3 0 genome.wustl.edu 37 8 113256732 113256732 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 113256732 113256732 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.10293 p.G3431 0.993 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 71 0 0 84 8 8.69565 CSMD3 0 genome.wustl.edu 37 8 113308208 113308208 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 113308208 113308208 A T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.8468 p.I2823N 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 70 0 0 58 6 9.375 CSMD3 0 genome.wustl.edu 37 8 113353786 113353786 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 113353786 113353786 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.6572 p.F2191S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 94 0 0 111 8 6.72269 BLK 0 genome.wustl.edu 37 8 11414274 11414274 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 11414274 11414274 G A SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.880 p.E294K 0.443 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_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 55 0 0 63 9 12.5 TRPS1 0 genome.wustl.edu 37 8 116631923 116631923 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 116631923 116631923 G A SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known silent c.402 p.V134 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 101 0 0 118 8 6.34921 EIF3H 0 genome.wustl.edu 37 8 117658772 117658772 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 117658772 117658772 T A SNP EIF3H ENST00000521861 human ensembl 74_37 -1 known missense c.899 p.D300V 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3H HGNC ENSG00000147677 225 1 0.442478 251 23 8.39416 AARD 0 genome.wustl.edu 37 8 117950578 117950578 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 117950578 117950578 C T SNP AARD ENST00000378279 human ensembl 74_37 +1 known silent c.96 p.P32 0.000 NULL NULL - no_errors AARD HGNC ENSG00000205002 28 0 0 31 6 16.2162 DEFB135 0 genome.wustl.edu 37 8 11842018 11842018 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 11842018 11842018 C T SNP DEFB135 ENST00000382208 human ensembl 74_37 +1 known silent c.153 p.N51 0.000 NULL NULL - no_errors DEFB135 HGNC ENSG00000205883 94 0 0 104 21 16.8 NOV 0 genome.wustl.edu 37 8 120431371 120431371 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 120431371 120431371 C T SNP NOV ENST00000259526 human ensembl 74_37 +1 known missense c.563 p.A188V 1.000 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_Cys_knot,pfam_VWF_C,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 NOV HGNC ENSG00000136999 62 0 0 84 7 7.69231 DSCC1 0 genome.wustl.edu 37 8 120847196 120847196 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 120847196 120847196 T A SNP DSCC1 ENST00000313655 human ensembl 74_37 -1 known missense c.1119 p.K373N 1.000 NULL pfam_Sister_chromatid_cohesion_Dcc1 - no_errors DSCC1 HGNC ENSG00000136982 112 0 0 110 7 5.98291 HAS2 0 genome.wustl.edu 37 8 122641366 122641366 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 122641366 122641366 T C SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known missense c.215 p.K72R 0.999 NULL pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 260 0 0 308 61 16.5312 TBC1D31 0 genome.wustl.edu 37 8 124153051 124153051 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 124153051 124153051 A G SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known silent c.2550 p.A850 0.148 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 151 0 0 136 10 6.84932 ZHX1-C8ORF76 0 genome.wustl.edu 37 8 124238719 124238719 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 124238719 124238719 A G SNP ZHX1-C8ORF76 ENST00000357082 human ensembl 74_37 -1 known silent c.873 p.F291 0.000 NULL NULL - no_errors ZHX1-C8ORF76 HGNC ENSG00000259305 33 0 0 36 3 7.69231 KLHL38 0 genome.wustl.edu 37 8 124664667 124664667 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 124664667 124664667 G A SNP KLHL38 ENST00000325995 human ensembl 74_37 -1 known missense c.500 p.A167V 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL38 HGNC ENSG00000175946 72 0 0 119 14 10.5263 FAM91A1 0 genome.wustl.edu 37 8 124787521 124787521 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 124787521 124787521 T C SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known missense c.292 p.Y98H 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 103 0 0 112 8 6.66667 RNF139 0 genome.wustl.edu 37 8 125498225 125498225 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 125498225 125498225 C T SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known missense c.335 p.S112L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 128 0 0 131 8 5.7554 MTSS1 0 genome.wustl.edu 37 8 125565432 125565432 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 125565432 125565432 A T SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.2069 p.I690N 0.067 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 220 0 0 329 19 5.45977 LONRF1 0 genome.wustl.edu 37 8 12598381 12598381 + Splice_Site SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 12598381 12598381 A T SNP LONRF1 ENST00000398246 human ensembl 74_37 -1 known splice_site c.963+2 e3+2 1.000 - - - no_errors LONRF1 HGNC ENSG00000154359 155 1 0.641026 192 13 6.34146 SQLE 0 genome.wustl.edu 37 8 126021568 126021568 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 126021568 126021568 T A SNP SQLE ENST00000265896 human ensembl 74_37 +1 known missense c.1091 p.I364N 0.998 pfam_Squalene_epoxidase,pfam_mOase_FAD-bd pfam_Squalene_epoxidase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,prints_Rng_hydrolase-like - no_errors SQLE HGNC ENSG00000104549 64 0 0 49 10 16.9492 KIAA0196 0 genome.wustl.edu 37 8 126088714 126088714 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 126088714 126088714 C T SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known missense c.740 p.R247H 1.000 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 74 0 0 89 10 10.101 FAM84B 0 genome.wustl.edu 37 8 127569021 127569021 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 127569021 127569021 G C SNP FAM84B ENST00000304916 human ensembl 74_37 -1 known missense c.614 p.A205G 1.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors FAM84B HGNC ENSG00000168672 16 0 0 20 2 9.09091 FAM84B 0 genome.wustl.edu 37 8 127569528 127569528 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 127569528 127569528 T C SNP FAM84B ENST00000304916 human ensembl 74_37 -1 known missense c.107 p.Y36C 1.000 NULL pfam_LRAT-like_dom - no_errors FAM84B HGNC ENSG00000168672 26 0 0 42 3 6.66667 POU5F1B 0 genome.wustl.edu 37 8 128428863 128428863 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 128428863 128428863 A G SNP POU5F1B ENST00000391675 human ensembl 74_37 +1 known missense c.752 p.Q251R 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU5F1B HGNC ENSG00000212993 19 0 0 10 4 28.5714 MYC 0 genome.wustl.edu 37 8 128750987 128750987 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 128750987 128750987 G A SNP MYC ENST00000377970 human ensembl 74_37 +1 known missense c.524 p.G175D 0.985 pfam_Tscrpt_reg_Myc_N pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 40 0 0 53 4 7.01754 DLC1 0 genome.wustl.edu 37 8 12957440 12957440 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 12957440 12957440 T G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.2406 p.P802 0.573 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 144 0 0 218 24 9.91736 GSDMC 0 genome.wustl.edu 37 8 130789814 130789814 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 130789814 130789814 C T SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.20 p.R7H 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 134 0 0 157 10 5.98802 FAM49B 0 genome.wustl.edu 37 8 130866573 130866573 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 130866573 130866573 A G SNP FAM49B ENST00000401979 human ensembl 74_37 -1 known missense c.455 p.I152T 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49B HGNC ENSG00000153310 112 0 0 105 7 6.25 OC90 0 genome.wustl.edu 37 8 133036882 133036882 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133036882 133036882 T C SNP OC90 ENST00000443356 human ensembl 74_37 -1 known missense c.1328 p.D443G 0.017 NULL pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 21 0 0 42 3 6.66667 KCNQ3 0 genome.wustl.edu 37 8 133150238 133150238 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133150238 133150238 T C SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1594 p.K532E 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 133 0 0 146 8 5.19481 KCNQ3 0 genome.wustl.edu 37 8 133196541 133196541 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133196541 133196541 T C SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.551 p.Y184C 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 102 0 0 162 16 8.98876 KCNQ3 0 genome.wustl.edu 37 8 133492463 133492463 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133492463 133492463 C T SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.317 p.R106H 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 34 0 0 34 3 8.10811 DLC1 0 genome.wustl.edu 37 8 13357407 13357407 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 13357407 13357407 A G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.174 p.C58 0.986 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 308 0 0 332 28 7.77778 DLC1 0 genome.wustl.edu 37 8 13357493 13357493 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 13357493 13357493 C A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.88 p.A30S 0.744 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 157 0 0 173 13 6.98925 LRRC6 0 genome.wustl.edu 37 8 133645002 133645002 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133645002 133645002 C T SNP LRRC6 ENST00000250173 human ensembl 74_37 -1 known missense c.637 p.D213N 0.008 NULL superfamily_HSP20-like_chaperone,smart_U2A'_phosphoprotein32A_C,pfscan_CS_dom - no_errors LRRC6 HGNC ENSG00000129295 245 0 0 295 19 6.05096 PHF20L1 0 genome.wustl.edu 37 8 133837511 133837511 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133837511 133837511 A G SNP PHF20L1 ENST00000395386 human ensembl 74_37 +1 putative missense c.1639 p.K547E 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Tudor-like_plant - no_errors PHF20L1 HGNC ENSG00000129292 51 0 0 64 4 5.88235 TG 0 genome.wustl.edu 37 8 133895214 133895214 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133895214 133895214 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.1045 p.T349A 0.899 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 29 0 0 51 6 10.5263 SLA 0 genome.wustl.edu 37 8 134062229 134062229 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 134062229 134062229 C T SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.286 p.G96R 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 60 0 0 71 16 18.3908 NDRG1 0 genome.wustl.edu 37 8 134276877 134276877 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 134276877 134276877 A C SNP NDRG1 ENST00000323851 human ensembl 74_37 -1 known missense c.118 p.L40V 0.004 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 89 0 0 123 9 6.81818 FAM135B 0 genome.wustl.edu 37 8 139180136 139180136 + Splice_Site SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 139180136 139180136 A C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known splice_site c.1258+2 e11+2 1.000 - - - no_errors FAM135B HGNC ENSG00000147724 124 0 0 150 14 8.53659 FAM135B 0 genome.wustl.edu 37 8 139278000 139278000 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 139278000 139278000 T C SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known silent c.243 p.V81 0.184 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 77 0 0 84 16 16 KCNK9 0 genome.wustl.edu 37 8 140715061 140715061 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 140715061 140715061 A G SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.175 p.Y59H 1.000 pirsf_2pore_dom_K_chnl_TASK,prints_KCNK9 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 32 0 0 50 4 7.40741 AGO2 0 genome.wustl.edu 37 8 141542676 141542676 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 141542676 141542676 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.2310 p.D770 0.998 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 52 0 0 96 13 11.9266 AGO2 0 genome.wustl.edu 37 8 141551423 141551423 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 141551423 141551423 T C SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1874 p.Y625C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 32 0 0 63 4 5.97015 AGO2 0 genome.wustl.edu 37 8 141559224 141559224 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 141559224 141559224 G A SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.1577 p.T526M 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 35 0 0 33 5 13.1579 PTK2 0 genome.wustl.edu 37 8 141745491 141745491 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 141745491 141745491 T C SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.1889 p.D630G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 101 0 0 114 6 5 PTK2 0 genome.wustl.edu 37 8 141889685 141889685 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 141889685 141889685 A G SNP PTK2 ENST00000395218 human ensembl 74_37 -1 known missense c.247 p.Y83H 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 274 0 0 383 22 5.4321 SLC45A4 0 genome.wustl.edu 37 8 142231844 142231844 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 142231844 142231844 T C SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.262 p.S88G 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 64 0 0 99 8 7.47664 BAI1 0 genome.wustl.edu 37 8 143623370 143623370 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 143623370 143623370 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.3775 p.P1259S 0.544 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 16 0 0 12 4 25 ARC 0 genome.wustl.edu 37 8 143694743 143694743 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 143694743 143694743 G A SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.890 p.P297L 1.000 NULL prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 43 0 0 58 5 7.93651 ARC 0 genome.wustl.edu 37 8 143694953 143694953 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 143694953 143694953 T C SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.680 p.Y227C 1.000 prints_Activity-reg_cytoskelet-assoc prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 46 0 0 50 3 5.66038 CYP11B2 0 genome.wustl.edu 37 8 143994781 143994781 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 143994781 143994781 G A SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known silent c.1041 p.A347 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 87 0 0 120 17 12.4088 ZNF696 0 genome.wustl.edu 37 8 144378517 144378517 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144378517 144378517 C T SNP ZNF696 ENST00000330143 human ensembl 74_37 +1 known silent c.672 p.A224 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF696 HGNC ENSG00000185730 13 0 0 16 4 20 RHPN1 0 genome.wustl.edu 37 8 144462909 144462909 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144462909 144462909 G A SNP RHPN1 ENST00000289013 human ensembl 74_37 +1 known missense c.1367 p.R456H 0.813 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ - no_errors RHPN1 HGNC ENSG00000158106 8 0 0 15 4 21.0526 ZC3H3 0 genome.wustl.edu 37 8 144620360 144620360 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144620360 144620360 G A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known missense c.1177 p.R393C 0.994 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 101 0 0 160 10 5.88235 TSTA3 0 genome.wustl.edu 37 8 144696501 144696501 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144696501 144696501 T C SNP TSTA3 ENST00000425753 human ensembl 74_37 -1 known missense c.587 p.H196R 1.000 pfam_Epimerase_deHydtase pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct - no_errors TSTA3 HGNC ENSG00000104522 62 0 0 105 7 6.25 ZNF623 0 genome.wustl.edu 37 8 144732976 144732976 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144732976 144732976 A T SNP ZNF623 ENST00000501748 human ensembl 74_37 +1 known missense c.934 p.I312F 0.050 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF623 HGNC ENSG00000183309 87 0 0 98 6 5.76923 MAPK15 0 genome.wustl.edu 37 8 144804314 144804314 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144804314 144804314 G A SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known missense c.1528 p.A510T 0.999 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 MAPK15 HGNC ENSG00000181085 92 0 0 143 9 5.92105 SCRIB 0 genome.wustl.edu 37 8 144874878 144874878 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144874878 144874878 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.4177 p.A1393T 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 11 0 0 20 3 13.0435 SCRIB 0 genome.wustl.edu 37 8 144877663 144877663 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144877663 144877663 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.3641 p.G1214D 0.751 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 20 0 0 33 6 15.3846 PUF60 0 genome.wustl.edu 37 8 144898884 144898884 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144898884 144898884 C T SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known missense c.1486 p.V496I 1.000 smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 234 0 0 297 33 10 PUF60 0 genome.wustl.edu 37 8 144899832 144899832 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144899832 144899832 G A SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known missense c.938 p.A313V 1.000 tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 72 0 0 99 6 5.71429 PUF60 0 genome.wustl.edu 37 8 144900179 144900179 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144900179 144900179 C T SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known missense c.670 p.A224T 0.998 tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 46 0 0 53 4 7.01754 NRBP2 0 genome.wustl.edu 37 8 144920921 144920921 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144920921 144920921 A G SNP NRBP2 ENST00000327830 human ensembl 74_37 -1 known silent c.42 p.N14 0.906 NULL superfamily_Kinase-like_dom - no_errors NRBP2 HGNC ENSG00000185189 26 0 0 24 4 14.2857 EPPK1 0 genome.wustl.edu 37 8 144942445 144942445 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144942445 144942445 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.4977 p.Q1659 0.006 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 75 0 0 107 23 17.6923 PLEC 0 genome.wustl.edu 37 8 144991141 144991141 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144991141 144991141 A G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13259 p.I4420T 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 50 0 0 77 7 8.33333 PLEC 0 genome.wustl.edu 37 8 144991345 144991345 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144991345 144991345 T C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13055 p.D4352G 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 61 0 0 71 12 14.4578 PLEC 0 genome.wustl.edu 37 8 144993077 144993077 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144993077 144993077 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.11323 p.A3775T 0.414 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 101 0 0 157 11 6.54762 PLEC 0 genome.wustl.edu 37 8 144996247 144996247 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 144996247 144996247 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8153 p.R2718Q 0.995 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 12 0 0 18 4 18.1818 PLEC 0 genome.wustl.edu 37 8 145000981 145000981 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145000981 145000981 C A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known nonsense c.4426 p.E1476* 0.999 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 89 0 0 144 13 8.28025 PARP10 0 genome.wustl.edu 37 8 145059959 145059959 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145059959 145059959 A C SNP PARP10 ENST00000313028 human ensembl 74_37 -1 known silent c.366 p.P122 0.239 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP10 HGNC ENSG00000178685 46 0 0 64 6 8.57143 GPAA1 0 genome.wustl.edu 37 8 145140934 145140934 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145140934 145140934 A G SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.1772 p.E591G 0.998 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 48 0 0 56 6 9.67742 SHARPIN 0 genome.wustl.edu 37 8 145154002 145154002 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145154002 145154002 G A SNP SHARPIN ENST00000398712 human ensembl 74_37 -1 known silent c.1029 p.S343 0.988 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 27 0 0 56 4 6.66667 MAF1 0 genome.wustl.edu 37 8 145161332 145161332 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145161332 145161332 C T SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known silent c.465 p.D155 0.727 pfam_Maf1,pirsf_Maf1 pfam_Maf1,pirsf_Maf1 - no_errors MAF1 HGNC ENSG00000179632 29 0 0 51 5 8.92857 HSF1 0 genome.wustl.edu 37 8 145537516 145537516 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145537516 145537516 G A SNP HSF1 ENST00000528838 human ensembl 74_37 +1 known missense c.1256 p.S419N 1.000 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 34 0 0 57 4 6.55738 DGAT1 0 genome.wustl.edu 37 8 145542209 145542209 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145542209 145542209 C T SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known silent c.489 p.A163 0.000 pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 21 0 0 34 7 17.0732 SCRT1 0 genome.wustl.edu 37 8 145557088 145557088 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145557088 145557088 G A SNP SCRT1 ENST00000332135 human ensembl 74_37 -1 known missense c.806 p.S269L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SCRT1 HGNC ENSG00000170616 15 0 0 27 4 12.9032 SLC52A2 0 genome.wustl.edu 37 8 145582977 145582977 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145582977 145582977 T C SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known silent c.24 p.R8 0.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 56 0 0 71 11 13.4146 CPSF1 0 genome.wustl.edu 37 8 145620557 145620557 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145620557 145620557 G A SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.3110 p.A1037V 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 36 0 0 38 3 7.31707 CPSF1 0 genome.wustl.edu 37 8 145620666 145620666 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145620666 145620666 T C SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.3080 p.Y1027C 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 50 0 0 58 4 6.45161 SLC39A4 0 genome.wustl.edu 37 8 145641443 145641443 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145641443 145641443 G A SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known silent c.225 p.G75 0.016 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 17 0 0 41 5 10.8696 TONSL 0 genome.wustl.edu 37 8 145661146 145661146 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145661146 145661146 T C SNP TONSL ENST00000409379 human ensembl 74_37 -1 known silent c.2670 p.P890 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 81 0 0 127 8 5.92593 TONSL 0 genome.wustl.edu 37 8 145664103 145664103 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145664103 145664103 C T SNP TONSL ENST00000409379 human ensembl 74_37 -1 known missense c.1496 p.G499D 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 26 0 0 39 7 15.2174 TONSL 0 genome.wustl.edu 37 8 145665767 145665767 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145665767 145665767 G A SNP TONSL ENST00000409379 human ensembl 74_37 -1 known silent c.1257 p.S419 0.192 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TONSL HGNC ENSG00000160949 49 0 0 71 6 7.79221 RECQL4 0 genome.wustl.edu 37 8 145741442 145741442 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145741442 145741442 A G SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.1061 p.V354A 0.931 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 62 0 0 109 6 5.21739 LRRC14 0 genome.wustl.edu 37 8 145745995 145745995 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145745995 145745995 C T SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known missense c.703 p.R235C 0.099 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 50 0 0 84 7 7.69231 LRRC24 0 genome.wustl.edu 37 8 145748589 145748589 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145748589 145748589 G C SNP LRRC24 ENST00000529415 human ensembl 74_37 -1 known missense c.812 p.A271G 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC24 HGNC ENSG00000254402 12 0 0 16 2 11.1111 ZNF251 0 genome.wustl.edu 37 8 145947422 145947422 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 145947422 145947422 C T SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known silent c.1623 p.E541 0.523 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 122 0 0 162 12 6.89655 ZNF34 0 genome.wustl.edu 37 8 146003509 146003509 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 146003509 146003509 C T SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known missense c.137 p.R46Q 0.018 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 26 0 0 56 3 5.08475 ZNF34 0 genome.wustl.edu 37 8 146003824 146003824 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 146003824 146003824 C A SNP ZNF34 ENST00000343459 human ensembl 74_37 -1 known missense c.96 p.Q32H 0.985 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 12 0 0 16 4 20 RPL8 0 genome.wustl.edu 37 8 146016676 146016676 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 146016676 146016676 T C SNP RPL8 ENST00000262584 human ensembl 74_37 -1 known missense c.485 p.N162S 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 77 0 0 98 7 6.66667 RPL8 0 genome.wustl.edu 37 8 146017173 146017173 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 146017173 146017173 A G SNP RPL8 ENST00000262584 human ensembl 74_37 -1 known missense c.265 p.Y89H 1.000 pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Ribosomal_L2 - no_errors RPL8 HGNC ENSG00000161016 116 0 0 161 12 6.93642 DLGAP2 0 genome.wustl.edu 37 8 1497551 1497551 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 1497551 1497551 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.692 p.T231M 0.181 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 82 0 0 102 6 5.55556 DLGAP2 0 genome.wustl.edu 37 8 1497607 1497607 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 1497607 1497607 G A SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.748 p.A250T 0.000 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 96 0 0 131 13 9.02778 TUSC3 0 genome.wustl.edu 37 8 15480695 15480695 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 15480695 15480695 G A SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.245 p.R82Q 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 118 0 0 99 7 6.60377 MICU3 0 genome.wustl.edu 37 8 16884801 16884801 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 16884801 16884801 C T SNP MICU3 ENST00000318063 human ensembl 74_37 +1 known nonsense c.13 p.R5* 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MICU3 HGNC ENSG00000155970 33 0 0 48 4 7.69231 MTMR7 0 genome.wustl.edu 37 8 17157398 17157398 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 17157398 17157398 A G SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known silent c.1956 p.S652 0.003 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 110 0 0 134 9 6.29371 MTMR7 0 genome.wustl.edu 37 8 17157468 17157468 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 17157468 17157468 T A SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known missense c.1886 p.D629V 0.998 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 85 0 0 109 7 6.03448 CLN8 0 genome.wustl.edu 37 8 1719553 1719553 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 1719553 1719553 G A SNP CLN8 ENST00000331222 human ensembl 74_37 +1 known silent c.333 p.T111 0.003 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors CLN8 HGNC ENSG00000182372 153 0 0 193 12 5.85366 MTMR7 0 genome.wustl.edu 37 8 17198974 17198974 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 17198974 17198974 G A SNP MTMR7 ENST00000180173 human ensembl 74_37 -1 known silent c.630 p.S210 0.020 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTMR7 HGNC ENSG00000003987 56 0 0 80 10 11.1111 SLC7A2 0 genome.wustl.edu 37 8 17401121 17401121 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 17401121 17401121 C T SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known silent c.393 p.A131 0.998 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 55 0 0 76 5 6.17284 MTUS1 0 genome.wustl.edu 37 8 17554837 17554837 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 17554837 17554837 G A SNP MTUS1 ENST00000297488 human ensembl 74_37 -1 known missense c.50 p.T17M 0.998 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 199 2 0.995025 259 21 7.5 MTUS1 0 genome.wustl.edu 37 8 17579227 17579227 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 17579227 17579227 T C SNP MTUS1 ENST00000381861 human ensembl 74_37 -1 known missense c.184 p.K62E 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 59 0 0 69 6 8 PCM1 0 genome.wustl.edu 37 8 17810589 17810589 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 17810589 17810589 C T SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known silent c.1182 p.V394 0.361 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 26 0 0 22 9 29.0323 ARHGEF10 0 genome.wustl.edu 37 8 1828298 1828298 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 1828298 1828298 A T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1003 p.I335F 0.900 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 56 0 0 70 6 7.89474 ARHGEF10 0 genome.wustl.edu 37 8 1851564 1851564 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 1851564 1851564 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known missense c.1843 p.R615C 1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 75 0 0 91 17 15.7407 ARHGEF10 0 genome.wustl.edu 37 8 1877548 1877548 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 1877548 1877548 G A SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.3093 p.T1031 0.000 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 133 0 0 161 9 5.29412 ARHGEF10 0 genome.wustl.edu 37 8 1904934 1904934 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 1904934 1904934 C T SNP ARHGEF10 ENST00000398564 human ensembl 74_37 +1 known silent c.3615 p.Y1205 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10 HGNC ENSG00000104728 66 0 0 103 7 6.36364 ZNF596 0 genome.wustl.edu 37 8 196313 196313 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 196313 196313 A G SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known missense c.1466 p.N489S 0.005 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 ZNF596 HGNC ENSG00000172748 115 0 0 111 9 7.5 INTS10 0 genome.wustl.edu 37 8 19681411 19681411 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 19681411 19681411 C T SNP INTS10 ENST00000397977 human ensembl 74_37 +1 known missense c.692 p.S231L 1.000 NULL NULL - no_errors INTS10 HGNC ENSG00000104613 95 0 0 118 7 5.6 MYOM2 0 genome.wustl.edu 37 8 2005502 2005502 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 2005502 2005502 G T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.300 p.K100N 0.990 NULL 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 34 0 0 63 4 5.97015 LZTS1 0 genome.wustl.edu 37 8 20110461 20110461 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 20110461 20110461 C T SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.981 p.A327 0.000 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 34 0 0 49 5 9.25926 MYOM2 0 genome.wustl.edu 37 8 2037899 2037899 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 2037899 2037899 C G SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1713 p.A571 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 50 0 0 86 6 6.52174 FGF17 0 genome.wustl.edu 37 8 21903733 21903733 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 21903733 21903733 A G SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known missense c.181 p.T61A 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 71 0 0 136 8 5.55556 HR 0 genome.wustl.edu 37 8 21976568 21976568 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 21976568 21976568 T G SNP HR ENST00000381418 human ensembl 74_37 -1 known silent c.3108 p.S1036 0.775 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 43 0 0 71 9 11.25 HR 0 genome.wustl.edu 37 8 21976797 21976797 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 21976797 21976797 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known splice_site c.2978-1 e14-1 0.892 - - - no_errors HR HGNC ENSG00000168453 46 0 0 63 10 13.6986 REEP4 0 genome.wustl.edu 37 8 21996041 21996041 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 21996041 21996041 G A SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known missense c.733 p.R245W 0.381 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 67 0 0 123 7 5.38462 REEP4 0 genome.wustl.edu 37 8 21996183 21996183 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 21996183 21996183 C T SNP REEP4 ENST00000306306 human ensembl 74_37 -1 known missense c.677 p.R226H 0.903 NULL pfam_TB2_DP1_HVA22 - no_errors REEP4 HGNC ENSG00000168476 68 0 0 102 14 12.069 LGI3 0 genome.wustl.edu 37 8 22006022 22006022 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22006022 22006022 C T SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.1298 p.R433H 0.585 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 26 0 0 35 8 18.6047 LGI3 0 genome.wustl.edu 37 8 22012934 22012934 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22012934 22012934 C T SNP LGI3 ENST00000518365 human ensembl 74_37 -1 known missense c.295 p.V99I 0.062 NULL NULL - no_errors LGI3 HGNC ENSG00000168481 123 0 0 157 40 20.3046 SFTPC 0 genome.wustl.edu 37 8 22020985 22020985 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22020985 22020985 T C SNP SFTPC ENST00000318561 human ensembl 74_37 +1 known missense c.361 p.C121R 1.000 pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom - no_errors SFTPC HGNC ENSG00000168484 58 0 0 91 5 5.20833 POLR3D 0 genome.wustl.edu 37 8 22105428 22105428 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22105428 22105428 C T SNP POLR3D ENST00000397802 human ensembl 74_37 +1 known nonsense c.268 p.R90* 1.000 NULL pfam_RPC4 - no_errors POLR3D HGNC ENSG00000168495 56 0 0 97 15 13.3929 SLC39A14 0 genome.wustl.edu 37 8 22262401 22262401 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22262401 22262401 C T SNP SLC39A14 ENST00000359741 human ensembl 74_37 +1 known nonsense c.178 p.Q60* 1.000 NULL pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 64 0 0 108 8 6.89655 RHOBTB2 0 genome.wustl.edu 37 8 22864590 22864590 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22864590 22864590 A G SNP RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known missense c.832 p.I278V 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 105 0 0 162 11 6.35838 TNFRSF10B 0 genome.wustl.edu 37 8 22881771 22881771 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22881771 22881771 T A SNP TNFRSF10B ENST00000276431 human ensembl 74_37 -1 known missense c.939 p.E313D 0.002 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10B HGNC ENSG00000120889 93 0 0 130 14 9.72222 TNFRSF10C 0 genome.wustl.edu 37 8 22969324 22969324 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22969324 22969324 A G SNP TNFRSF10C ENST00000356864 human ensembl 74_37 +1 known missense c.152 p.E51G 0.001 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10C HGNC ENSG00000173535 36 0 0 46 4 8 LOXL2 0 genome.wustl.edu 37 8 23155621 23155621 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 23155621 23155621 C T SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.2260 p.E754K 1.000 NULL pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 49 0 0 87 17 16.3462 LOXL2 0 genome.wustl.edu 37 8 23167310 23167310 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 23167310 23167310 G A SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.1751 p.A584V 1.000 pfam_Lysyl_oxidase pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 41 0 0 46 5 9.80392 LOXL2 0 genome.wustl.edu 37 8 23177441 23177441 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 23177441 23177441 A G SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.1427 p.V476A 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 52 0 0 72 12 14.2857 LOXL2 0 genome.wustl.edu 37 8 23198524 23198524 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 23198524 23198524 A G SNP LOXL2 ENST00000389131 human ensembl 74_37 -1 known missense c.724 p.Y242H 0.991 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL2 HGNC ENSG00000134013 97 0 0 124 20 13.8889 NKX3-1 0 genome.wustl.edu 37 8 23538760 23538760 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 23538760 23538760 C G SNP NKX3-1 ENST00000380871 human ensembl 74_37 -1 known missense c.679 p.G227R 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-1 HGNC ENSG00000167034 70 0 0 113 8 6.61157 ADAM28 0 genome.wustl.edu 37 8 24200626 24200626 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 24200626 24200626 G A SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.1843 p.A615T 1.000 smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 87 0 0 82 11 11.828 ADAM7 0 genome.wustl.edu 37 8 24356804 24356804 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 24356804 24356804 G A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.1898 p.C633Y 0.872 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 57 0 0 61 6 8.95522 NEFM 0 genome.wustl.edu 37 8 24771921 24771921 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 24771921 24771921 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.615 p.A205 1.000 pfam_IF,prints_Keratin_I pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 29 0 0 39 9 18.75 NEFM 0 genome.wustl.edu 37 8 24772257 24772257 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 24772257 24772257 C T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known silent c.951 p.I317 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 25 0 0 27 3 10 DOCK5 0 genome.wustl.edu 37 8 25203086 25203086 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 25203086 25203086 C A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.2713 p.L905I 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 113 1 0.877193 149 12 7.45342 CDCA2 0 genome.wustl.edu 37 8 25317936 25317936 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 25317936 25317936 T C SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.98 p.V33A 0.002 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 314 0 0 363 23 5.95855 EBF2 0 genome.wustl.edu 37 8 25718615 25718615 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 25718615 25718615 C T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.1292 p.G431D 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 131 0 0 175 16 8.37696 PPP2R2A 0 genome.wustl.edu 37 8 26220238 26220238 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 26220238 26220238 A C SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known missense c.676 p.T226P 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 65 0 0 63 7 10 PPP2R2A 0 genome.wustl.edu 37 8 26227921 26227921 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 26227921 26227921 G A SNP PPP2R2A ENST00000380737 human ensembl 74_37 +1 known missense c.1336 p.V446M 1.000 pirsf_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC ENSG00000221914 70 0 0 82 5 5.74713 SDAD1P1 0 genome.wustl.edu 37 8 26238433 26238433 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 26238433 26238433 G A SNP SDAD1P1 ENST00000519902 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDAD1P1 HGNC ENSG00000228451 118 0 0 117 19 13.9706 DPYSL2 0 genome.wustl.edu 37 8 26505247 26505247 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 26505247 26505247 A T SNP DPYSL2 ENST00000311151 human ensembl 74_37 +1 known silent c.1212 p.G404 0.997 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL2 HGNC ENSG00000092964 75 0 0 105 8 7.07965 STMN4 0 genome.wustl.edu 37 8 27097663 27097663 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 27097663 27097663 A G SNP STMN4 ENST00000350889 human ensembl 74_37 -1 known missense c.416 p.L139P 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC ENSG00000015592 90 0 0 115 7 5.7377 CLU 0 genome.wustl.edu 37 8 27457490 27457490 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 27457490 27457490 C T SNP CLU ENST00000560366 human ensembl 74_37 -1 known missense c.1127 p.R376Q 0.993 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 57 0 0 60 19 24.0506 SCARA3 0 genome.wustl.edu 37 8 27516928 27516928 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 27516928 27516928 G A SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.1241 p.R414Q 0.993 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 21 0 0 30 7 18.9189 ESCO2 0 genome.wustl.edu 37 8 27650265 27650265 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 27650265 27650265 T C SNP ESCO2 ENST00000305188 human ensembl 74_37 +1 known silent c.1434 p.T478 0.953 NULL NULL - no_errors ESCO2 HGNC ENSG00000171320 78 0 0 81 10 10.989 PBK 0 genome.wustl.edu 37 8 27680702 27680702 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 27680702 27680702 T C SNP PBK ENST00000301905 human ensembl 74_37 -1 known missense c.173 p.H58R 0.996 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 PBK HGNC ENSG00000168078 109 0 0 109 7 6.03448 SCARA5 0 genome.wustl.edu 37 8 27764677 27764677 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 27764677 27764677 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.1084 p.R362C 1.000 pfam_Collagen pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 104 1 0.952381 144 27 15.7895 ELP3 0 genome.wustl.edu 37 8 28017959 28017959 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 28017959 28017959 A G SNP ELP3 ENST00000256398 human ensembl 74_37 +1 known missense c.1471 p.K491E 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 45 0 0 47 3 6 ELP3 0 genome.wustl.edu 37 8 28019591 28019591 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 28019591 28019591 A G SNP ELP3 ENST00000256398 human ensembl 74_37 +1 known missense c.1563 p.I521M 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GNAT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 75 0 0 126 9 6.66667 ZNF395 0 genome.wustl.edu 37 8 28210108 28210108 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 28210108 28210108 A T SNP ZNF395 ENST00000344423 human ensembl 74_37 -1 known missense c.902 p.V301D 1.000 pfscan_Znf_C2H2 pfscan_Znf_C2H2 - no_errors ZNF395 HGNC ENSG00000186918 92 0 0 114 8 6.55738 CSMD1 0 genome.wustl.edu 37 8 2830724 2830724 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 2830724 2830724 A T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known nonsense c.8841 p.C2947* 0.997 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 129 0 0 209 27 11.4407 EXTL3 0 genome.wustl.edu 37 8 28608394 28608394 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 28608394 28608394 C T SNP EXTL3 ENST00000520679 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors EXTL3 HGNC ENSG00000012232 48 0 0 55 21 27.6316 KIF13B 0 genome.wustl.edu 37 8 29025093 29025093 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 29025093 29025093 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.955 p.G319R 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 142 0 0 172 25 12.6904 CSMD1 0 genome.wustl.edu 37 8 3038700 3038700 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 3038700 3038700 T C SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.5660 p.N1887S 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 56 0 0 41 3 6.81818 RBPMS 0 genome.wustl.edu 37 8 30416475 30416475 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30416475 30416475 T C SNP RBPMS ENST00000287771 human ensembl 74_37 +1 known splice_site c.615+2 e8+2 0.998 - - - no_errors RBPMS HGNC ENSG00000157110 76 0 0 89 6 6.31579 GTF2E2 0 genome.wustl.edu 37 8 30436555 30436555 + Splice_Site SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30436555 30436555 C A SNP GTF2E2 ENST00000355904 human ensembl 74_37 -1 known splice_site c.760-1 e7-1 1.000 - - - no_errors GTF2E2 HGNC ENSG00000197265 141 0 0 205 11 5.09259 GTF2E2 0 genome.wustl.edu 37 8 30510971 30510971 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30510971 30510971 A G SNP GTF2E2 ENST00000355904 human ensembl 74_37 -1 known missense c.145 p.S49P 1.000 pirsf_TFIIE-bsu pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu - no_errors GTF2E2 HGNC ENSG00000197265 217 0 0 219 29 11.6935 TEX15 0 genome.wustl.edu 37 8 30695219 30695219 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30695219 30695219 G A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known nonsense c.7432 p.Q2478* 0.006 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 163 0 0 171 35 16.9903 TEX15 0 genome.wustl.edu 37 8 30702154 30702154 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30702154 30702154 T C SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.4380 p.I1460M 0.046 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 91 0 0 114 6 5 TEX15 0 genome.wustl.edu 37 8 30704392 30704392 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30704392 30704392 C A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.2142 p.K714N 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 136 0 0 143 9 5.92105 TEX15 0 genome.wustl.edu 37 8 30704541 30704541 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30704541 30704541 C T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.1993 p.E665K 0.778 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 88 0 0 96 6 5.88235 TEX15 0 genome.wustl.edu 37 8 30704620 30704620 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30704620 30704620 T C SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.1914 p.L638 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 100 0 0 83 14 14.433 PURG 0 genome.wustl.edu 37 8 30889514 30889514 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30889514 30889514 G A SNP PURG ENST00000475541 human ensembl 74_37 -1 known missense c.785 p.P262L 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 104 0 0 127 8 5.92593 WRN 0 genome.wustl.edu 37 8 30933738 30933738 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30933738 30933738 T C SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.774 p.S258 0.838 NULL pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 129 0 0 150 10 6.25 WRN 0 genome.wustl.edu 37 8 31007893 31007893 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 31007893 31007893 T G SNP WRN ENST00000298139 human ensembl 74_37 +1 known silent c.3609 p.G1203 1.000 pfam_HRDC_dom,superfamily_HRDC-like,smart_HRDC_dom,pfscan_HRDC_dom pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 87 0 0 93 10 9.70874 CSMD1 0 genome.wustl.edu 37 8 3165968 3165968 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 3165968 3165968 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.3692 p.R1231H 0.960 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 34 0 0 36 7 16.2791 NRG1 0 genome.wustl.edu 37 8 32621679 32621679 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 32621679 32621679 A C SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1706 p.E569A 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 47 0 0 59 13 18.0556 FUT10 0 genome.wustl.edu 37 8 33246774 33246774 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 33246774 33246774 C T SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.919 p.G307R 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 34 0 0 54 3 5.26316 FUT10 0 genome.wustl.edu 37 8 33246847 33246847 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 33246847 33246847 A G SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known silent c.846 p.N282 0.946 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 66 0 0 85 6 6.59341 TTI2 0 genome.wustl.edu 37 8 33369888 33369888 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 33369888 33369888 G T SNP TTI2 ENST00000360742 human ensembl 74_37 -1 known missense c.244 p.L82M 0.967 NULL pfam_DUF2454,superfamily_ARM-type_fold - no_errors TTI2 HGNC ENSG00000129696 84 0 0 123 9 6.81818 CSMD1 0 genome.wustl.edu 37 8 3474301 3474301 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 3474301 3474301 G A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.1028 p.A343V 0.168 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 53 0 0 49 5 9.25926 KCNU1 0 genome.wustl.edu 37 8 36644837 36644837 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 36644837 36644837 C T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.209 p.S70L 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 36 0 0 27 5 15.625 ZNF703 0 genome.wustl.edu 37 8 37556065 37556065 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 37556065 37556065 G A SNP ZNF703 ENST00000331569 human ensembl 74_37 +1 known missense c.1646 p.G549D 1.000 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 28 0 0 42 3 6.66667 BRF2 0 genome.wustl.edu 37 8 37704490 37704490 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 37704490 37704490 T G SNP BRF2 ENST00000220659 human ensembl 74_37 -1 known missense c.418 p.T140P 0.999 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC ENSG00000104221 213 1 0.46729 373 34 8.35381 RAB11FIP1 0 genome.wustl.edu 37 8 37729405 37729405 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 37729405 37729405 A T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.2915 p.I972K 0.006 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 136 0 0 195 11 5.33981 RAB11FIP1 0 genome.wustl.edu 37 8 37734665 37734665 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 37734665 37734665 T A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.776 p.E259V 0.906 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 78 0 0 112 7 5.88235 EIF4EBP1 0 genome.wustl.edu 37 8 37914780 37914780 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 37914780 37914780 T C SNP EIF4EBP1 ENST00000338825 human ensembl 74_37 +1 known splice_site c.325+2 e2+2 1.000 - - - no_errors EIF4EBP1 HGNC ENSG00000187840 38 0 0 70 6 7.89474 ASH2L 0 genome.wustl.edu 37 8 37964605 37964605 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 37964605 37964605 C T SNP ASH2L ENST00000343823 human ensembl 74_37 +1 known nonsense c.322 p.R108* 1.000 NULL pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors ASH2L HGNC ENSG00000129691 77 0 0 62 8 11.4286 STAR 0 genome.wustl.edu 37 8 38005720 38005720 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 38005720 38005720 G A SNP STAR ENST00000276449 human ensembl 74_37 -1 known nonsense c.304 p.Q102* 0.949 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STAR HGNC ENSG00000147465 37 0 0 50 5 9.09091 DDHD2 0 genome.wustl.edu 37 8 38103772 38103772 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 38103772 38103772 T A SNP DDHD2 ENST00000397166 human ensembl 74_37 +1 known missense c.1079 p.I360N 1.000 NULL pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 157 1 0.632911 176 11 5.88235 WHSC1L1 0 genome.wustl.edu 37 8 38189055 38189055 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 38189055 38189055 G A SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.959 p.A320V 0.998 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 71 0 0 100 19 15.9664 LETM2 0 genome.wustl.edu 37 8 38264558 38264558 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 38264558 38264558 T C SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known splice_site c.1311+2 e8+2 0.987 - - - no_errors LETM2 HGNC ENSG00000165046 88 0 0 74 8 9.7561 FGFR1 0 genome.wustl.edu 37 8 38279324 38279324 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 38279324 38279324 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.1165 p.V389I 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 76 0 0 112 18 13.8462 ADAM18 0 genome.wustl.edu 37 8 39495122 39495122 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 39495122 39495122 A T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.727 p.I243F 0.966 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 73 0 0 81 6 6.89655 ADAM18 0 genome.wustl.edu 37 8 39525578 39525578 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 39525578 39525578 A T SNP ADAM18 ENST00000265707 human ensembl 74_37 +1 known missense c.1388 p.Y463F 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM18 HGNC ENSG00000168619 152 0 0 168 13 7.18232 ADAM2 0 genome.wustl.edu 37 8 39644522 39644522 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 39644522 39644522 C T SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known missense c.862 p.D288N 0.996 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ENSG00000104755 100 0 0 83 5 5.68182 SFRP1 0 genome.wustl.edu 37 8 41122885 41122885 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 41122885 41122885 T C SNP SFRP1 ENST00000220772 human ensembl 74_37 -1 known missense c.746 p.Y249C 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP1 HGNC ENSG00000104332 105 0 0 113 8 6.61157 AGPAT6 0 genome.wustl.edu 37 8 41469463 41469463 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 41469463 41469463 A G SNP AGPAT6 ENST00000396987 human ensembl 74_37 +1 known missense c.653 p.Y218C 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT6 HGNC ENSG00000158669 55 0 0 59 5 7.8125 ANK1 0 genome.wustl.edu 37 8 41577192 41577192 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 41577192 41577192 T G SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.1094 p.N365T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 140 0 0 224 13 5.48523 ANK1 0 genome.wustl.edu 37 8 41581127 41581127 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 41581127 41581127 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.736 p.A246T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 60 0 0 89 5 5.31915 AP3M2 0 genome.wustl.edu 37 8 42023011 42023011 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 42023011 42023011 C T SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.736 p.R246C 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 209 0 0 244 17 6.51341 AP3M2 0 genome.wustl.edu 37 8 42025322 42025322 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 42025322 42025322 A G SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.1150 p.I384V 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 198 0 0 191 27 12.3853 SMIM19 0 genome.wustl.edu 37 8 42401751 42401751 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 42401751 42401751 T C SNP SMIM19 ENST00000414154 human ensembl 74_37 +1 known splice_site c.134+2 e1+2 1.000 - - - no_errors SMIM19 HGNC ENSG00000176209 87 0 0 107 6 5.30973 POMK 0 genome.wustl.edu 37 8 42977574 42977574 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 42977574 42977574 T A SNP POMK ENST00000331373 human ensembl 74_37 +1 known missense c.607 p.C203S 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors POMK HGNC ENSG00000185900 48 0 0 47 3 6 POTEA 0 genome.wustl.edu 37 8 43147761 43147761 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 43147761 43147761 C A SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors POTEA HGNC ENSG00000188877 70 0 0 119 9 7.03125 TDRP 0 genome.wustl.edu 37 8 442651 442651 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 442651 442651 T G SNP TDRP ENST00000427263 human ensembl 74_37 -1 known missense c.306 p.K102N 0.960 NULL NULL - no_errors TDRP HGNC ENSG00000180190 112 0 0 126 8 5.97015 SPIDR 0 genome.wustl.edu 37 8 48309037 48309037 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 48309037 48309037 C T SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known silent c.627 p.H209 0.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 156 0 0 165 19 10.3261 SPIDR 0 genome.wustl.edu 37 8 48613001 48613001 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 48613001 48613001 G A SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known nonsense c.1722 p.W574* 1.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 147 0 0 170 12 6.59341 SPIDR 0 genome.wustl.edu 37 8 48647993 48647993 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 48647993 48647993 G A SNP SPIDR ENST00000297423 human ensembl 74_37 +1 known missense c.2729 p.G910E 0.000 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 73 0 0 108 7 6.08696 PRKDC 0 genome.wustl.edu 37 8 48689516 48689516 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 48689516 48689516 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.12068 p.G4023E 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 146 1 0.680272 124 15 10.7914 PRKDC 0 genome.wustl.edu 37 8 48748958 48748958 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 48748958 48748958 A G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.7889 p.V2630A 0.000 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 22 0 0 29 3 9.375 PRKDC 0 genome.wustl.edu 37 8 48855917 48855917 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 48855917 48855917 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.818 p.R273H 0.075 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 26 0 0 31 3 8.82353 EFCAB1 0 genome.wustl.edu 37 8 49643102 49643102 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 49643102 49643102 T C SNP EFCAB1 ENST00000262103 human ensembl 74_37 -1 known missense c.316 p.K106E 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors EFCAB1 HGNC ENSG00000034239 49 0 0 39 9 18.75 SNAI2 0 genome.wustl.edu 37 8 49832964 49832964 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 49832964 49832964 A G SNP SNAI2 ENST00000020945 human ensembl 74_37 -1 known missense c.116 p.M39T 0.993 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SNAI2 HGNC ENSG00000019549 193 0 0 227 13 5.41667 SNTG1 0 genome.wustl.edu 37 8 51415351 51415351 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 51415351 51415351 G T SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.377 p.R126L 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 81 0 0 62 8 11.4286 PXDNL 0 genome.wustl.edu 37 8 52321321 52321321 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 52321321 52321321 G T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2863 p.L955M 0.997 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 8 0 0 20 3 13.0435 PXDNL 0 genome.wustl.edu 37 8 52321557 52321557 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 52321557 52321557 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2627 p.A876V 0.971 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 55 0 0 64 5 7.24638 PXDNL 0 genome.wustl.edu 37 8 52321906 52321906 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 52321906 52321906 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2278 p.G760S 0.992 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 9 0 0 8 4 33.3333 ST18 0 genome.wustl.edu 37 8 53084434 53084434 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 53084434 53084434 C A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.987 p.R329S 0.996 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 133 0 0 139 20 12.5786 ST18 0 genome.wustl.edu 37 8 53084924 53084924 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 53084924 53084924 T A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.497 p.E166V 0.949 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 132 0 0 116 22 15.942 RB1CC1 0 genome.wustl.edu 37 8 53569953 53569953 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 53569953 53569953 T A SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.2436 p.I812 0.983 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 161 0 0 168 9 5.08475 NPBWR1 0 genome.wustl.edu 37 8 53853261 53853261 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 53853261 53853261 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.794 p.T265M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 29 0 0 40 8 16.6667 OPRK1 0 genome.wustl.edu 37 8 54142295 54142295 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 54142295 54142295 G A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known silent c.705 p.F235 0.952 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 81 0 0 77 14 15.3846 OPRK1 0 genome.wustl.edu 37 8 54163422 54163422 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 54163422 54163422 G A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known missense c.176 p.P59L 1.000 prints_Kappa_opi_rcpt,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 27 0 0 31 4 11.4286 ATP6V1H 0 genome.wustl.edu 37 8 54708265 54708265 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 54708265 54708265 T A SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.812 p.D271V 1.000 pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 166 0 0 183 14 7.1066 ATP6V1H 0 genome.wustl.edu 37 8 54708289 54708289 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 54708289 54708289 T C SNP ATP6V1H ENST00000359530 human ensembl 74_37 -1 known missense c.788 p.Y263C 1.000 pfam_ATPase_V1-cplx_hsu,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu pfam_ATPase_V1-cplx_hsu,pfam_ATPase_V1-cplx_hsu_C,superfamily_ARM-type_fold,pirsf_ATPase_V1-cplx_hsu - no_errors ATP6V1H HGNC ENSG00000047249 147 1 0.675676 160 29 15.3439 TCEA1 0 genome.wustl.edu 37 8 54891698 54891698 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 54891698 54891698 T C SNP TCEA1 ENST00000521604 human ensembl 74_37 -1 known missense c.712 p.K238E 1.000 pfam_TFIIS_cen_dom,smart_TFS2M,pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_Znf_TFIIS,pfam_TFIIS_N,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA1 HGNC ENSG00000187735 155 0 0 164 9 5.20231 RP1 0 genome.wustl.edu 37 8 55533931 55533931 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 55533931 55533931 G A SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.405 p.A135 0.040 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 59 0 0 104 7 6.30631 RP1 0 genome.wustl.edu 37 8 55534123 55534123 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 55534123 55534123 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known silent c.597 p.Y199 0.762 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 126 0 0 150 12 7.40741 XKR4 0 genome.wustl.edu 37 8 56015541 56015541 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 56015541 56015541 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.493 p.R165C 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 43 0 0 57 14 19.7183 LYN 0 genome.wustl.edu 37 8 56863306 56863306 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 56863306 56863306 T C SNP LYN ENST00000519728 human ensembl 74_37 +1 known silent c.450 p.A150 0.002 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 194 0 0 207 23 10 LYN 0 genome.wustl.edu 37 8 56910922 56910922 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 56910922 56910922 A T SNP LYN ENST00000519728 human ensembl 74_37 +1 known silent c.1068 p.A356 0.042 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_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 61 0 0 70 4 5.40541 LYN 0 genome.wustl.edu 37 8 56922616 56922616 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 56922616 56922616 G A SNP LYN ENST00000519728 human ensembl 74_37 +1 known missense c.1486 p.V496I 0.987 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 98 0 0 114 26 18.5714 MOS 0 genome.wustl.edu 37 8 57026295 57026295 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 57026295 57026295 G A SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.247 p.P83S 0.139 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 MOS HGNC ENSG00000172680 114 0 0 162 15 8.47458 PLAG1 0 genome.wustl.edu 37 8 57079567 57079567 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 57079567 57079567 T G SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.738 p.E246D 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 209 0 0 259 19 6.83453 CHCHD7 0 genome.wustl.edu 37 8 57129004 57129004 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 57129004 57129004 T C SNP CHCHD7 ENST00000303759 human ensembl 74_37 +1 known missense c.142 p.S48P 1.000 superfamily_Cys_alpha_HP_mot_SF,pfscan_Ricin_B_lectin superfamily_Cys_alpha_HP_mot_SF,pfscan_Ricin_B_lectin - no_errors CHCHD7 HGNC ENSG00000170791 61 0 0 79 7 8.13953 SDR16C5 0 genome.wustl.edu 37 8 57218238 57218238 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 57218238 57218238 C G SNP SDR16C5 ENST00000303749 human ensembl 74_37 -1 known missense c.754 p.E252Q 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC ENSG00000170786 93 0 0 99 8 7.47664 SDCBP 0 genome.wustl.edu 37 8 59493089 59493089 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 59493089 59493089 C T SNP SDCBP ENST00000260130 human ensembl 74_37 +1 known missense c.764 p.A255V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP HGNC ENSG00000137575 70 0 0 73 9 10.9756 NSMAF 0 genome.wustl.edu 37 8 59506822 59506822 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 59506822 59506822 G A SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known silent c.2013 p.R671 0.968 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 94 0 0 79 19 19.3878 NSMAF 0 genome.wustl.edu 37 8 59515915 59515915 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 59515915 59515915 C T SNP NSMAF ENST00000427130 human ensembl 74_37 -1 known missense c.992 p.S331N 1.000 superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,pfam_GRAM,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_GRAM,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NSMAF HGNC ENSG00000035681 82 0 0 101 7 6.48148 ERICH1 0 genome.wustl.edu 37 8 614628 614628 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 614628 614628 A T SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known missense c.1307 p.I436N 0.962 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 153 0 0 147 10 6.36943 CHD7 0 genome.wustl.edu 37 8 61743114 61743114 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 61743114 61743114 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.3756 p.C1252 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 102 0 0 115 25 17.8571 CHD7 0 genome.wustl.edu 37 8 61764653 61764653 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 61764653 61764653 G A SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.5741 p.R1914H 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 CHD7 HGNC ENSG00000171316 48 0 0 48 8 14.2857 MCPH1 0 genome.wustl.edu 37 8 6302609 6302609 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 6302609 6302609 T A SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.1366 p.F456I 0.001 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 95 0 0 129 10 7.19424 YTHDF3 0 genome.wustl.edu 37 8 64099143 64099143 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 64099143 64099143 A T SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known missense c.571 p.T191S 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 74 0 0 83 9 9.78261 BHLHE22 0 genome.wustl.edu 37 8 65494116 65494116 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 65494116 65494116 G A SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.769 p.D257N 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 24 0 0 20 3 13.0435 PDE7A 0 genome.wustl.edu 37 8 66651787 66651787 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 66651787 66651787 C A SNP PDE7A ENST00000401827 human ensembl 74_37 -1 known missense c.545 p.G182V 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE7A HGNC ENSG00000205268 76 0 0 79 5 5.95238 DNAJC5B 0 genome.wustl.edu 37 8 66963796 66963796 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 66963796 66963796 T C SNP DNAJC5B ENST00000276570 human ensembl 74_37 +1 known missense c.14 p.I5T 0.152 superfamily_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC5B HGNC ENSG00000147570 97 0 0 102 16 13.5593 ADHFE1 0 genome.wustl.edu 37 8 67364293 67364293 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 67364293 67364293 C T SNP ADHFE1 ENST00000396623 human ensembl 74_37 +1 known silent c.840 p.D280 1.000 pfam_ADH_Fe pfam_ADH_Fe - no_errors ADHFE1 HGNC ENSG00000147576 52 0 0 67 11 14.1026 DEFA4 0 genome.wustl.edu 37 8 6793553 6793553 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 6793553 6793553 G A SNP DEFA4 ENST00000297435 human ensembl 74_37 -1 known missense c.283 p.R95C 0.008 NULL pfam_Defensin_propep,pfam_Mammalian_defensins,smart_Defensin_beta/neutrophil,pirsf_Alpha-defensin - no_errors DEFA4 HGNC ENSG00000164821 101 0 0 115 22 16.0584 CSPP1 0 genome.wustl.edu 37 8 68076737 68076737 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68076737 68076737 C A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.2807 p.P936H 0.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 180 0 0 226 13 5.43933 ARFGEF1 0 genome.wustl.edu 37 8 68111167 68111167 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68111167 68111167 C T SNP ARFGEF1 ENST00000517955 human ensembl 74_37 -1 putative rna NULL NULL 0.890 - - - no_errors ARFGEF1 HGNC ENSG00000066777 57 0 0 83 8 8.79121 ARFGEF1 0 genome.wustl.edu 37 8 68150610 68150610 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68150610 68150610 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known missense c.3257 p.Q1086R 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 109 0 0 113 6 5.04202 ARFGEF1 0 genome.wustl.edu 37 8 68208816 68208816 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68208816 68208816 G A SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known silent c.489 p.H163 1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 75 0 0 70 4 5.40541 ARFGEF1 0 genome.wustl.edu 37 8 68208822 68208822 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68208822 68208822 T C SNP ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known silent c.483 p.S161 0.792 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 74 0 0 68 5 6.84932 CPA6 0 genome.wustl.edu 37 8 68658339 68658339 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68658339 68658339 C T SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known missense c.26 p.G9D 0.970 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 52 0 0 52 11 17.4603 PREX2 0 genome.wustl.edu 37 8 68956765 68956765 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68956765 68956765 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.883 p.L295F 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 157 0 0 177 12 6.34921 PREX2 0 genome.wustl.edu 37 8 68965388 68965388 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68965388 68965388 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1000 p.A334T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 92 0 0 80 17 17.5258 PREX2 0 genome.wustl.edu 37 8 68968157 68968157 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68968157 68968157 A T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1186 p.I396F 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 103 0 0 113 6 5.04202 PREX2 0 genome.wustl.edu 37 8 68993075 68993075 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68993075 68993075 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known splice_site c.1878+2 e17+2 1.000 - - - no_errors PREX2 HGNC ENSG00000046889 118 0 0 78 15 16.129 PREX2 0 genome.wustl.edu 37 8 69011996 69011996 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 69011996 69011996 C A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2633 p.P878H 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 114 0 0 106 12 10.1695 C8orf34 0 genome.wustl.edu 37 8 69351824 69351824 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 69351824 69351824 C T SNP C8orf34 ENST00000518698 human ensembl 74_37 +1 known nonsense c.418 p.Q140* 1.000 superfamily_cAMP_dep_PK_reg_su_I/II_a/b superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC ENSG00000165084 70 0 0 86 5 5.49451 PRDM14 0 genome.wustl.edu 37 8 70971024 70971024 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 70971024 70971024 A G SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known missense c.1237 p.Y413H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 72 0 0 94 8 7.84314 PRDM14 0 genome.wustl.edu 37 8 70980555 70980555 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 70980555 70980555 G A SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known silent c.822 p.I274 0.948 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 97 0 0 117 10 7.87402 EYA1 0 genome.wustl.edu 37 8 72234492 72234492 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 72234492 72234492 T C SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.214 p.S72G 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 134 0 0 124 22 15.0685 MSC 0 genome.wustl.edu 37 8 72755945 72755945 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 72755945 72755945 C T SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.469 p.A157T 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 64 0 0 90 7 7.21649 KCNB2 0 genome.wustl.edu 37 8 73480200 73480200 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 73480200 73480200 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.231 p.C77 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv8 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 92 0 0 118 24 16.9014 KCNB2 0 genome.wustl.edu 37 8 73848595 73848595 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 73848595 73848595 G T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.1005 p.L335F 1.000 pfam_Ion_trans_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 124 0 0 160 27 14.4385 KCNB2 0 genome.wustl.edu 37 8 73848886 73848886 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 73848886 73848886 A G SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known silent c.1296 p.K432 0.985 prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv6 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 90 0 0 98 7 6.66667 ZFHX4 0 genome.wustl.edu 37 8 77767582 77767582 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 77767582 77767582 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.8425 p.A2809T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 43 0 0 63 7 10 ZBTB10 0 genome.wustl.edu 37 8 81431715 81431715 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 81431715 81431715 C A SNP ZBTB10 ENST00000430430 human ensembl 74_37 +1 known silent c.2568 p.P856 0.026 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 41 0 0 34 9 20.9302 SGK223 0 genome.wustl.edu 37 8 8185778 8185778 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 8185778 8185778 G A SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.2514 p.P838 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 208 0 0 273 42 13.3333 PAG1 0 genome.wustl.edu 37 8 81897148 81897148 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 81897148 81897148 C A SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known nonsense c.739 p.G247* 0.070 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 143 1 0.694444 176 11 5.88235 FABP5 0 genome.wustl.edu 37 8 82196782 82196782 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 82196782 82196782 A G SNP FABP5 ENST00000297258 human ensembl 74_37 +1 known missense c.388 p.I130V 0.090 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP5 HGNC ENSG00000164687 57 0 0 64 6 8.57143 SGK223 0 genome.wustl.edu 37 8 8234932 8234932 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 8234932 8234932 G T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.987 p.S329 0.099 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 52 0 0 88 5 5.37634 IMPA1 0 genome.wustl.edu 37 8 82593741 82593741 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 82593741 82593741 C T SNP IMPA1 ENST00000449740 human ensembl 74_37 -1 known missense c.232 p.A78T 1.000 pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase - no_errors IMPA1 HGNC ENSG00000133731 65 0 0 66 6 8.33333 C8orf59 0 genome.wustl.edu 37 8 86127243 86127243 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 86127243 86127243 T G SNP C8orf59 ENST00000417663 human ensembl 74_37 -1 known missense c.138 p.K46N 0.754 NULL NULL - no_errors C8orf59 HGNC ENSG00000176731 35 0 0 33 3 8.33333 CA3 0 genome.wustl.edu 37 8 86360305 86360305 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 86360305 86360305 C T SNP CA3 ENST00000285381 human ensembl 74_37 +1 known missense c.706 p.P236S 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA3 HGNC ENSG00000164879 50 0 0 69 4 5.47945 SLC7A13 0 genome.wustl.edu 37 8 87230005 87230005 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 87230005 87230005 C A SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known missense c.873 p.M291I 0.004 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 179 0 0 167 28 14.359 WWP1 0 genome.wustl.edu 37 8 87443720 87443720 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 87443720 87443720 G T SNP WWP1 ENST00000265428 human ensembl 74_37 +1 known splice_site c.1472+1 e11+1 1.000 - - - no_errors WWP1 HGNC ENSG00000123124 64 0 0 86 13 13.1313 MFHAS1 0 genome.wustl.edu 37 8 8748972 8748972 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 8748972 8748972 A G SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known missense c.1597 p.C533R 1.000 superfamily_P-loop_NTPase pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 38 0 0 62 5 7.46269 MMP16 0 genome.wustl.edu 37 8 89086947 89086947 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 89086947 89086947 T C SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1108 p.N370D 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 157 0 0 165 26 13.6126 MMP16 0 genome.wustl.edu 37 8 89128833 89128833 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 89128833 89128833 G A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.986 p.P329L 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 120 0 0 171 14 7.56757 PPP1R3B 0 genome.wustl.edu 37 8 8998972 8998972 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 8998972 8998972 A G SNP PPP1R3B ENST00000310455 human ensembl 74_37 -1 known missense c.190 p.S64P 1.000 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 106 0 0 147 10 6.36943 PPP1R3B 0 genome.wustl.edu 37 8 8999110 8999110 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 8999110 8999110 G A SNP PPP1R3B ENST00000310455 human ensembl 74_37 -1 known missense c.52 p.R18C 0.977 pirsf_Pase-1_Glycogen_target-su_met pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3B HGNC ENSG00000173281 63 0 0 53 8 13.1148 SLC26A7 0 genome.wustl.edu 37 8 92374603 92374603 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 92374603 92374603 T C SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.1337 p.V446A 0.828 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 192 0 0 213 13 5.75221 TNKS 0 genome.wustl.edu 37 8 9413539 9413539 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 9413539 9413539 A G SNP TNKS ENST00000310430 human ensembl 74_37 +1 known silent c.90 p.P30 0.998 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS HGNC ENSG00000173273 28 0 0 38 6 13.6364 RBM12B 0 genome.wustl.edu 37 8 94745668 94745668 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 94745668 94745668 C T SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.2971 p.V991I 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 83 0 0 68 7 9.33333 RBM12B 0 genome.wustl.edu 37 8 94747482 94747482 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 94747482 94747482 A G SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.1157 p.V386A 0.022 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 251 0 0 260 14 5.10949 DPY19L4 0 genome.wustl.edu 37 8 95782721 95782721 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 95782721 95782721 G A SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.1376 p.R459Q 0.307 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 84 0 0 85 13 13.2653 GDF6 0 genome.wustl.edu 37 8 97172915 97172915 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 97172915 97172915 A T SNP GDF6 ENST00000287020 human ensembl 74_37 -1 known missense c.6 p.D2E 1.000 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF6 HGNC ENSG00000156466 34 0 0 47 10 17.5439 MATN2 0 genome.wustl.edu 37 8 99039747 99039747 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 99039747 99039747 A C SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known silent c.2046 p.I682 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 108 0 0 142 9 5.96026 NIPAL2 0 genome.wustl.edu 37 8 99248423 99248423 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 99248423 99248423 A G SNP NIPAL2 ENST00000341166 human ensembl 74_37 -1 known silent c.396 p.V132 0.522 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPAL2 HGNC ENSG00000104361 68 0 0 69 5 6.75676 KCNS2 0 genome.wustl.edu 37 8 99440332 99440332 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 99440332 99440332 G A SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.125 p.R42H 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 44 0 0 73 6 7.59494 STK3 0 genome.wustl.edu 37 8 99468135 99468135 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 99468135 99468135 T C SNP STK3 ENST00000419617 human ensembl 74_37 -1 known missense c.1411 p.T471A 1.000 pfam_Mst1_SARAH_domain,pfscan_SARAH_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 54 0 0 53 4 7.01754 CCDC180 0 genome.wustl.edu 37 9 100074423 100074423 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 100074423 100074423 G A SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known missense c.421 p.A141T 0.000 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 78 0 0 77 8 9.41176 TDRD7 0 genome.wustl.edu 37 9 100204028 100204028 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 100204028 100204028 G A SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known silent c.726 p.K242 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 79 0 0 57 4 6.55738 TDRD7 0 genome.wustl.edu 37 9 100222954 100222954 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 100222954 100222954 G T SNP TDRD7 ENST00000355295 human ensembl 74_37 +1 known missense c.1350 p.E450D 0.032 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 81 0 0 49 10 16.9492 NCBP1 0 genome.wustl.edu 37 9 100403911 100403911 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 100403911 100403911 A G SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.191 p.Y64C 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 176 0 0 131 8 5.7554 NCBP1 0 genome.wustl.edu 37 9 100425241 100425241 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 100425241 100425241 A G SNP NCBP1 ENST00000375147 human ensembl 74_37 +1 known missense c.1709 p.H570R 1.000 pfam_MIF4G-like_typ-2,superfamily_ARM-type_fold pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors NCBP1 HGNC ENSG00000136937 138 0 0 76 21 21.6495 ANKS6 0 genome.wustl.edu 37 9 101533295 101533295 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 101533295 101533295 G A SNP ANKS6 ENST00000375018 human ensembl 74_37 -1 known missense c.1855 p.P619S 0.967 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS6 HGNC ENSG00000165138 53 0 0 46 11 19.2982 GALNT12 0 genome.wustl.edu 37 9 101602296 101602296 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 101602296 101602296 G A SNP GALNT12 ENST00000375011 human ensembl 74_37 +1 known missense c.1225 p.D409N 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT12 HGNC ENSG00000119514 148 1 0.671141 118 9 7.08661 COL15A1 0 genome.wustl.edu 37 9 101824277 101824277 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 101824277 101824277 G A SNP COL15A1 ENST00000375001 human ensembl 74_37 +1 known missense c.3427 p.D1143N 0.603 pfam_Collagenase_NC10/endostatin pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 160 0 0 142 8 5.33333 INVS 0 genome.wustl.edu 37 9 103002483 103002483 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 103002483 103002483 A G SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.757 p.N253D 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 95 0 0 68 4 5.55556 INVS 0 genome.wustl.edu 37 9 103054911 103054911 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 103054911 103054911 A G SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.2372 p.Q791R 0.973 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 59 0 0 45 4 8.16327 INVS 0 genome.wustl.edu 37 9 103054982 103054982 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 103054982 103054982 C T SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.2443 p.R815W 0.997 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 57 0 0 59 5 7.8125 INVS 0 genome.wustl.edu 37 9 103055045 103055045 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 103055045 103055045 A G SNP INVS ENST00000262457 human ensembl 74_37 +1 known missense c.2506 p.T836A 0.002 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 69 0 0 62 7 10.1449 TEX10 0 genome.wustl.edu 37 9 103109393 103109393 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 103109393 103109393 T A SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known missense c.476 p.D159V 1.000 pfam_IPI1/TEX10,superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 131 0 0 107 11 9.32203 LPPR1 0 genome.wustl.edu 37 9 104048518 104048518 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 104048518 104048518 G T SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known missense c.385 p.G129W 1.000 superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 69 0 0 61 5 7.57576 RNF20 0 genome.wustl.edu 37 9 104312974 104312974 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 104312974 104312974 T C SNP RNF20 ENST00000389120 human ensembl 74_37 +1 known silent c.1179 p.N393 0.895 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF20 HGNC ENSG00000155827 227 0 0 187 20 9.66184 GRIN3A 0 genome.wustl.edu 37 9 104385604 104385604 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 104385604 104385604 T C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2610 p.I870M 0.547 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 103 0 0 85 6 6.59341 GRIN3A 0 genome.wustl.edu 37 9 104385638 104385638 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 104385638 104385638 C T SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.2576 p.C859Y 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 135 0 0 113 9 7.37705 DMRT2 0 genome.wustl.edu 37 9 1057243 1057243 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 1057243 1057243 T C SNP DMRT2 ENST00000302441 human ensembl 74_37 +1 known silent c.1656 p.P552 0.994 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 98 0 0 83 5 5.68182 CYLC2 0 genome.wustl.edu 37 9 105767460 105767460 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 105767460 105767460 G A SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.547 p.G183R 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 37 0 0 24 3 11.1111 SMC2 0 genome.wustl.edu 37 9 106900323 106900323 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 106900323 106900323 A G SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.3294 p.I1098M 0.943 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 149 0 0 89 9 9.18367 OR13F1 0 genome.wustl.edu 37 9 107266759 107266759 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 107266759 107266759 G A SNP OR13F1 ENST00000334726 human ensembl 74_37 +1 known nonsense c.216 p.W72* 0.687 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 OR13F1 HGNC ENSG00000186881 151 1 0.657895 140 9 6.04027 OR13F1 0 genome.wustl.edu 37 9 107267453 107267453 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 107267453 107267453 T A SNP OR13F1 ENST00000334726 human ensembl 74_37 +1 known missense c.910 p.L304M 0.313 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13F1 HGNC ENSG00000186881 94 0 0 58 4 6.45161 OR13C4 0 genome.wustl.edu 37 9 107289076 107289076 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 107289076 107289076 C T SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.415 p.V139M 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 OR13C4 HGNC ENSG00000148136 120 0 0 83 12 12.6316 OR13C4 0 genome.wustl.edu 37 9 107289113 107289113 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 107289113 107289113 G C SNP OR13C4 ENST00000277216 human ensembl 74_37 -1 known missense c.378 p.I126M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C4 HGNC ENSG00000148136 130 0 0 90 14 13.4615 OR13C5 0 genome.wustl.edu 37 9 107361037 107361037 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 107361037 107361037 A T SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known missense c.658 p.L220I 0.001 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 OR13C5 HGNC ENSG00000255800 146 0 0 99 10 9.17431 OR13D1 0 genome.wustl.edu 37 9 107457074 107457074 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 107457074 107457074 C A SNP OR13D1 ENST00000318763 human ensembl 74_37 +1 known silent c.372 p.I124 0.756 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 OR13D1 HGNC ENSG00000179055 234 0 0 179 14 7.25389 NIPSNAP3B 0 genome.wustl.edu 37 9 107535336 107535336 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 107535336 107535336 A G SNP NIPSNAP3B ENST00000374762 human ensembl 74_37 +1 known silent c.726 p.S242 0.020 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP3B HGNC ENSG00000165028 93 0 0 53 4 7.01754 ZNF462 0 genome.wustl.edu 37 9 109687976 109687976 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 109687976 109687976 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.1783 p.A595T 0.933 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 97 0 0 91 7 7.14286 ACTL7B 0 genome.wustl.edu 37 9 111617647 111617647 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 111617647 111617647 G A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known silent c.564 p.S188 0.909 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 42 0 0 31 15 32.6087 ACTL7B 0 genome.wustl.edu 37 9 111617817 111617817 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 111617817 111617817 A G SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known missense c.394 p.Y132H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 47 0 0 40 3 6.97674 ACTL7A 0 genome.wustl.edu 37 9 111625473 111625473 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 111625473 111625473 A G SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.871 p.K291E 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 74 0 0 63 6 8.69565 ACTL7A 0 genome.wustl.edu 37 9 111625641 111625641 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 111625641 111625641 G A SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.1039 p.D347N 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 99 0 0 102 12 10.5263 FAM206A 0 genome.wustl.edu 37 9 111697919 111697919 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 111697919 111697919 T C SNP FAM206A ENST00000322940 human ensembl 74_37 +1 known silent c.81 p.D27 1.000 superfamily_Single_hybrid_motif pfam_GCV_H,superfamily_Single_hybrid_motif - no_errors FAM206A HGNC ENSG00000119328 84 0 0 49 5 9.25926 FRRS1L 0 genome.wustl.edu 37 9 111911987 111911987 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 111911987 111911987 A G SNP FRRS1L ENST00000561981 human ensembl 74_37 -1 known silent c.405 p.P135 1.000 NULL pfam_DOMON_domain,smart_DOMON_domain,pfscan_DOMON_domain - no_errors FRRS1L HGNC ENSG00000260230 52 0 0 52 3 5.45455 EPB41L4B 0 genome.wustl.edu 37 9 112029765 112029765 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 112029765 112029765 T C SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.521 p.E174G 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 79 0 0 64 5 7.24638 PTPN3 0 genome.wustl.edu 37 9 112225670 112225670 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 112225670 112225670 T C SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.45 p.I15M 0.424 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 133 1 0.746269 98 6 5.76923 PALM2-AKAP2 0 genome.wustl.edu 37 9 112898690 112898690 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 112898690 112898690 A T SNP PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known missense c.866 p.E289V 1.000 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 109 0 0 96 6 5.88235 SVEP1 0 genome.wustl.edu 37 9 113169574 113169574 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 113169574 113169574 C T SNP SVEP1 ENST00000401783 human ensembl 74_37 -1 known missense c.8306 p.R2769H 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 150 0 0 97 31 24.2188 LPAR1 0 genome.wustl.edu 37 9 113637717 113637717 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 113637717 113637717 T A SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known missense c.1082 p.D361V 1.000 prints_LPA_rcpt_EDG2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 49 0 0 42 5 10.6383 KIAA0368 0 genome.wustl.edu 37 9 114134086 114134086 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 114134086 114134086 A T SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.5086 p.Y1696N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 128 0 0 102 7 6.42202 KIAA0368 0 genome.wustl.edu 37 9 114145502 114145502 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 114145502 114145502 A G SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known silent c.4326 p.V1442 0.700 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 53 0 0 32 3 8.57143 ZNF483 0 genome.wustl.edu 37 9 114305075 114305075 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 114305075 114305075 G A SNP ZNF483 ENST00000309235 human ensembl 74_37 +1 known silent c.1860 p.T620 0.009 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF483 HGNC ENSG00000173258 63 0 0 33 11 25 PTGR1 0 genome.wustl.edu 37 9 114337052 114337052 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 114337052 114337052 G A SNP PTGR1 ENST00000309195 human ensembl 74_37 -1 known missense c.722 p.A241V 0.987 pfam_ADH_C,smart_PKS_ER,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 164 0 0 141 16 10.1911 C9orf84 0 genome.wustl.edu 37 9 114454706 114454706 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 114454706 114454706 C A SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.3359 p.R1120M 0.000 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 124 0 0 95 7 6.86275 C9orf84 0 genome.wustl.edu 37 9 114456540 114456540 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 114456540 114456540 T C SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.3094 p.K1032E 1.000 superfamily_RuvA_2-like superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 310 0 0 225 23 9.27419 HSDL2 0 genome.wustl.edu 37 9 115166290 115166290 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 115166290 115166290 T C SNP HSDL2 ENST00000398805 human ensembl 74_37 +1 novel silent c.33 p.C11 1.000 NULL pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH - no_errors HSDL2 HGNC ENSG00000119471 157 0 0 110 13 10.5691 SNX30 0 genome.wustl.edu 37 9 115626531 115626531 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 115626531 115626531 C A SNP SNX30 ENST00000374232 human ensembl 74_37 +1 known missense c.1106 p.P369Q 1.000 pfam_Vps5_C,pfam_BAR_dom pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX30 HGNC ENSG00000148158 42 0 0 31 7 18.4211 FKBP15 0 genome.wustl.edu 37 9 115931875 115931875 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 115931875 115931875 T C SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known silent c.3114 p.L1038 0.199 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 94 0 0 95 10 9.52381 FKBP15 0 genome.wustl.edu 37 9 115936846 115936846 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 115936846 115936846 T C SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known silent c.2241 p.K747 0.999 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 142 0 0 100 10 9.09091 PRPF4 0 genome.wustl.edu 37 9 116049018 116049018 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 116049018 116049018 A G SNP PRPF4 ENST00000374198 human ensembl 74_37 +1 known missense c.845 p.H282R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 384 1 0.25974 344 30 8.02139 ALAD 0 genome.wustl.edu 37 9 116151752 116151752 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 116151752 116151752 G T SNP ALAD ENST00000409155 human ensembl 74_37 -1 known missense c.767 p.P256H 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 71 0 0 75 17 18.4783 RGS3 0 genome.wustl.edu 37 9 116263906 116263906 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 116263906 116263906 G A SNP RGS3 ENST00000343817 human ensembl 74_37 +1 known missense c.50 p.R17H 1.000 superfamily_PDZ pfam_RGS_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 12 0 0 10 3 23.0769 RGS3 0 genome.wustl.edu 37 9 116359109 116359109 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 116359109 116359109 G A SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.3473 p.G1158D 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 70 0 0 67 6 8.21918 ZNF618 0 genome.wustl.edu 37 9 116811193 116811193 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 116811193 116811193 G A SNP ZNF618 ENST00000374126 human ensembl 74_37 +1 known silent c.1611 p.V537 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 14 0 0 15 2 11.7647 FOXD4 0 genome.wustl.edu 37 9 117366 117366 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 117366 117366 C T SNP FOXD4 ENST00000382500 human ensembl 74_37 -1 known missense c.754 p.G252R 0.129 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4 HGNC ENSG00000170122 14 0 0 17 6 26.087 ASTN2 0 genome.wustl.edu 37 9 119414057 119414057 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 119414057 119414057 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2822 p.G941D 1.000 smart_MACPF pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 87 0 0 81 7 7.95455 TRIM32 0 genome.wustl.edu 37 9 119460783 119460783 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 119460783 119460783 G A SNP TRIM32 ENST00000373983 human ensembl 74_37 +1 known silent c.762 p.L254 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 41 0 0 33 10 23.2558 ASTN2 0 genome.wustl.edu 37 9 119488179 119488179 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 119488179 119488179 G T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2677 p.L893M 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 108 0 0 119 9 7.03125 ASTN2 0 genome.wustl.edu 37 9 119582989 119582989 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 119582989 119582989 T C SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.2114 p.D705G 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 69 0 0 69 4 5.47945 TLR4 0 genome.wustl.edu 37 9 120476261 120476261 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 120476261 120476261 C T SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1855 p.P619S 0.000 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 50 0 0 34 4 10.5263 BRINP1 0 genome.wustl.edu 37 9 121971132 121971132 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 121971132 121971132 T C SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1010 p.D337G 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 75 0 0 82 7 7.86517 CDK5RAP2 0 genome.wustl.edu 37 9 123210340 123210340 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 123210340 123210340 C T SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.2858 p.R953H 0.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 144 0 0 93 40 30.0752 CDK5RAP2 0 genome.wustl.edu 37 9 123253685 123253685 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 123253685 123253685 T C SNP CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known missense c.1382 p.Y461C 0.045 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 86 0 0 48 4 7.69231 C5 0 genome.wustl.edu 37 9 123776296 123776296 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 123776296 123776296 G A SNP C5 ENST00000223642 human ensembl 74_37 -1 known silent c.2112 p.C704 0.000 pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,pfscan_Anaphylatoxin/fibulin pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 84 0 0 61 5 7.57576 C5 0 genome.wustl.edu 37 9 123782388 123782388 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 123782388 123782388 A T SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.1372 p.S458T 1.000 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 149 0 0 111 8 6.72269 GSN 0 genome.wustl.edu 37 9 124081025 124081025 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 124081025 124081025 G A SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.1211 p.G404D 1.000 NULL pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 49 0 0 47 6 11.3208 DAB2IP 0 genome.wustl.edu 37 9 124535066 124535066 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 124535066 124535066 C T SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2259 p.D753 0.992 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 24 0 0 20 5 20 TTLL11 0 genome.wustl.edu 37 9 124751329 124751329 + RNA SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 124751329 124751329 G T SNP TTLL11 ENST00000487468 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL11 HGNC ENSG00000175764 27 0 0 24 5 17.2414 NDUFA8 0 genome.wustl.edu 37 9 124906577 124906577 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 124906577 124906577 G A SNP NDUFA8 ENST00000373768 human ensembl 74_37 -1 known silent c.462 p.I154 0.000 pirsf_NADH_Ub_cplx-1_asu_su-8 pfam_CHCH,pirsf_NADH_Ub_cplx-1_asu_su-8 - no_errors NDUFA8 HGNC ENSG00000119421 104 0 0 68 15 18.0723 RBM18 0 genome.wustl.edu 37 9 125009820 125009820 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125009820 125009820 G A SNP RBM18 ENST00000417201 human ensembl 74_37 -1 known nonsense c.304 p.R102* 0.995 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM18 HGNC ENSG00000119446 67 0 0 53 16 23.1884 OR1L8 0 genome.wustl.edu 37 9 125330036 125330036 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125330036 125330036 T C SNP OR1L8 ENST00000304865 human ensembl 74_37 -1 known missense c.721 p.T241A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L8 HGNC ENSG00000171496 58 0 0 40 6 13.0435 OR5C1 0 genome.wustl.edu 37 9 125551853 125551853 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125551853 125551853 G A SNP OR5C1 ENST00000373680 human ensembl 74_37 +1 known silent c.642 p.T214 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 65 0 0 47 5 9.61538 OR5C1 0 genome.wustl.edu 37 9 125551886 125551886 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125551886 125551886 C T SNP OR5C1 ENST00000373680 human ensembl 74_37 +1 known silent c.675 p.I225 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5C1 HGNC ENSG00000148215 57 0 0 46 12 20.6897 OR1K1 0 genome.wustl.edu 37 9 125562695 125562695 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125562695 125562695 C G SNP OR1K1 ENST00000277309 human ensembl 74_37 +1 known missense c.294 p.C98W 0.982 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1K1 HGNC ENSG00000165204 103 0 0 73 26 26.2626 RC3H2 0 genome.wustl.edu 37 9 125617543 125617543 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125617543 125617543 G A SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.2735 p.S912F 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 58 0 0 50 6 10.7143 ZBTB6 0 genome.wustl.edu 37 9 125673310 125673310 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125673310 125673310 G T SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known missense c.1042 p.H348N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 95 0 0 71 19 21.1111 RABGAP1 0 genome.wustl.edu 37 9 125759568 125759568 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125759568 125759568 T C SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.1132 p.S378P 1.000 pfam_Kinesin-like pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 59 0 0 61 4 6.15385 RABGAP1 0 genome.wustl.edu 37 9 125836696 125836696 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 125836696 125836696 C T SNP RABGAP1 ENST00000373647 human ensembl 74_37 +1 known missense c.2242 p.L748F 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 71 0 0 65 8 10.9589 DENND1A 0 genome.wustl.edu 37 9 126144873 126144873 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 126144873 126144873 C T SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.1901 p.R634H 0.010 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 55 0 0 43 14 24.5614 DENND1A 0 genome.wustl.edu 37 9 126214597 126214597 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 126214597 126214597 T C SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known silent c.1161 p.V387 0.656 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND1A HGNC ENSG00000119522 85 0 0 62 7 10.1449 NEK6 0 genome.wustl.edu 37 9 127110081 127110081 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 127110081 127110081 G A SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known missense c.913 p.G305R 0.011 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 133 0 0 126 17 11.8881 NR6A1 0 genome.wustl.edu 37 9 127298343 127298343 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 127298343 127298343 T C SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.893 p.Q298R 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 111 0 0 93 22 19.1304 NR6A1 0 genome.wustl.edu 37 9 127316748 127316748 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 127316748 127316748 C A SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.244 p.G82W 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 103 0 0 113 14 11.0236 RABEPK 0 genome.wustl.edu 37 9 127996243 127996243 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 127996243 127996243 T G SNP RABEPK ENST00000373538 human ensembl 74_37 +1 known missense c.1103 p.V368G 1.000 NULL pfam_Kelch_2,pfam_Kelch_1 - no_errors RABEPK HGNC ENSG00000136933 213 0 0 124 35 22.0126 GAPVD1 0 genome.wustl.edu 37 9 128099736 128099736 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 128099736 128099736 G A SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known missense c.2824 p.D942N 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 75 0 0 80 5 5.88235 MAPKAP1 0 genome.wustl.edu 37 9 128347881 128347881 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 128347881 128347881 C T SNP MAPKAP1 ENST00000265960 human ensembl 74_37 -1 known silent c.624 p.G208 1.000 pfam_SIN1 pfam_SIN1 - no_errors MAPKAP1 HGNC ENSG00000119487 90 0 0 79 8 9.1954 LMX1B 0 genome.wustl.edu 37 9 129458638 129458638 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 129458638 129458638 C A SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known missense c.1129 p.L377I 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 124 1 0.8 123 32 20.6452 RALGPS1 0 genome.wustl.edu 37 9 129740006 129740006 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 129740006 129740006 T C SNP RALGPS1 ENST00000259351 human ensembl 74_37 +1 known silent c.198 p.F66 0.995 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC ENSG00000136828 106 0 0 93 10 9.70874 GARNL3 0 genome.wustl.edu 37 9 130073930 130073930 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 130073930 130073930 C T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.235 p.P79S 1.000 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 74 0 0 49 5 9.25926 GARNL3 0 genome.wustl.edu 37 9 130083001 130083001 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 130083001 130083001 A G SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.511 p.N171D 1.000 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 71 0 0 35 6 14.6341 RPL12 0 genome.wustl.edu 37 9 130210270 130210270 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 130210270 130210270 T C SNP RPL12 ENST00000361436 human ensembl 74_37 -1 known splice_site c.380-2 e6-2 0.996 - - - no_errors RPL12 HGNC ENSG00000197958 46 0 0 36 3 7.69231 LRSAM1 0 genome.wustl.edu 37 9 130219605 130219605 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 130219605 130219605 T A SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known missense c.185 p.V62D 1.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 37 0 0 32 5 13.5135 LRSAM1 0 genome.wustl.edu 37 9 130265165 130265165 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 130265165 130265165 A G SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known missense c.2159 p.Y720C 1.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 9 0 0 17 3 15 PTRH1 0 genome.wustl.edu 37 9 130476504 130476504 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 130476504 130476504 C A SNP PTRH1 ENST00000419060 human ensembl 74_37 -1 known missense c.520 p.A174S 0.338 pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro pfam_Pept_tRNA_hydro,superfamily_Pept_tRNA_hydro - no_errors PTRH1 HGNC ENSG00000187024 45 0 0 52 4 7.14286 CDK9 0 genome.wustl.edu 37 9 130550553 130550553 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 130550553 130550553 C A SNP CDK9 ENST00000373265 human ensembl 74_37 +1 known missense c.844 p.L282M 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 CDK9 HGNC ENSG00000136807 31 0 0 24 3 11.1111 SWI5 0 genome.wustl.edu 37 9 131038650 131038650 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131038650 131038650 A T SNP SWI5 ENST00000320188 human ensembl 74_37 +1 known missense c.226 p.I76F 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 23 0 0 17 2 10.5263 MPDZ 0 genome.wustl.edu 37 9 13107034 13107034 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 13107034 13107034 A G SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.6143 p.V2048A 0.992 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 217 0 0 156 37 19.171 SLC27A4 0 genome.wustl.edu 37 9 131107478 131107478 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131107478 131107478 G A SNP SLC27A4 ENST00000300456 human ensembl 74_37 +1 known missense c.206 p.C69Y 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors SLC27A4 HGNC ENSG00000167114 39 0 0 26 7 21.2121 ODF2 0 genome.wustl.edu 37 9 131262534 131262534 + Nonstop_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131262534 131262534 A T SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known nonstop c.2490 p.*830C 0.345 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 110 0 0 81 24 22.8571 SPTAN1 0 genome.wustl.edu 37 9 131337514 131337514 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131337514 131337514 C A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.541 p.L181M 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 141 0 0 102 10 8.92857 SPTAN1 0 genome.wustl.edu 37 9 131387430 131387430 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131387430 131387430 C A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.6041 p.S2014Y 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 72 0 0 56 8 12.5 WDR34 0 genome.wustl.edu 37 9 131399212 131399212 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131399212 131399212 G A SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known missense c.530 p.A177V 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR34 HGNC ENSG00000119333 26 0 0 30 4 11.7647 WDR34 0 genome.wustl.edu 37 9 131403003 131403003 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131403003 131403003 G A SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known silent c.402 p.G134 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR34 HGNC ENSG00000119333 53 0 0 57 3 5 TBC1D13 0 genome.wustl.edu 37 9 131559484 131559484 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131559484 131559484 G T SNP TBC1D13 ENST00000372648 human ensembl 74_37 +1 known silent c.534 p.G178 0.577 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D13 HGNC ENSG00000107021 61 0 0 49 8 14.0351 C9orf114 0 genome.wustl.edu 37 9 131591016 131591016 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131591016 131591016 C T SNP C9orf114 ENST00000361256 human ensembl 74_37 -1 known missense c.206 p.R69H 0.001 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 129 0 0 123 15 10.8696 LRRC8A 0 genome.wustl.edu 37 9 131670363 131670363 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131670363 131670363 C T SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known missense c.920 p.T307I 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 100 0 0 119 19 13.7681 MPDZ 0 genome.wustl.edu 37 9 13168518 13168518 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 13168518 13168518 C T SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.3101 p.R1034Q 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 277 0 0 193 55 22.1774 NUP188 0 genome.wustl.edu 37 9 131741566 131741566 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131741566 131741566 T C SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.1229 p.V410A 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 92 0 0 68 11 13.9241 NUP188 0 genome.wustl.edu 37 9 131755596 131755596 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131755596 131755596 T C SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.2761 p.F921L 1.000 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 97 0 0 72 12 14.2857 CRAT 0 genome.wustl.edu 37 9 131862874 131862874 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131862874 131862874 G A SNP CRAT ENST00000318080 human ensembl 74_37 -1 known silent c.900 p.Y300 1.000 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CRAT HGNC ENSG00000095321 37 0 0 36 4 10 PPP2R4 0 genome.wustl.edu 37 9 131890312 131890312 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131890312 131890312 C G SNP PPP2R4 ENST00000452489 human ensembl 74_37 +1 known missense c.286 p.P96A 0.000 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 15 0 0 8 3 27.2727 PPP2R4 0 genome.wustl.edu 37 9 131897123 131897123 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131897123 131897123 G T SNP PPP2R4 ENST00000452489 human ensembl 74_37 +1 known silent c.615 p.G205 0.995 pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac pfam_Phstyr_phstse_ac,pirsf_Phstyr_phstse_ac - no_errors PPP2R4 HGNC ENSG00000119383 112 1 0.884956 62 14 18.4211 C9orf106 0 genome.wustl.edu 37 9 132084570 132084570 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 132084570 132084570 G A SNP C9orf106 ENST00000316786 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors C9orf106 HGNC ENSG00000179082 40 0 0 36 4 10 ASB6 0 genome.wustl.edu 37 9 132400113 132400113 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 132400113 132400113 A G SNP ASB6 ENST00000277458 human ensembl 74_37 -1 known missense c.1222 p.Y408H 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C 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 ASB6 HGNC ENSG00000148331 83 0 0 77 9 10.4651 MPDZ 0 genome.wustl.edu 37 9 13247792 13247792 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 13247792 13247792 G A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.25 p.R9W 1.000 pfam_L27_2,pfscan_L27 pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 310 1 0.321543 229 20 8.03213 PRRX2 0 genome.wustl.edu 37 9 132482979 132482979 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 132482979 132482979 C T SNP PRRX2 ENST00000372469 human ensembl 74_37 +1 known silent c.552 p.I184 0.900 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX2 HGNC ENSG00000167157 50 0 0 46 8 14.8148 FUBP3 0 genome.wustl.edu 37 9 133511486 133511486 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 133511486 133511486 G A SNP FUBP3 ENST00000319725 human ensembl 74_37 +1 known silent c.1683 p.T561 0.224 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP3 HGNC ENSG00000107164 43 0 0 42 14 25 LAMC3 0 genome.wustl.edu 37 9 133901837 133901837 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 133901837 133901837 G A SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.539 p.R180H 0.935 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 54 0 0 49 17 25.7576 PRRC2B 0 genome.wustl.edu 37 9 134305536 134305536 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 134305536 134305536 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.5 p.S2F 1.000 pfam_BAT2_N pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 28 0 0 11 4 26.6667 RAPGEF1 0 genome.wustl.edu 37 9 134465325 134465325 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 134465325 134465325 G A SNP RAPGEF1 ENST00000372190 human ensembl 74_37 -1 known missense c.2311 p.R771C 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC ENSG00000107263 107 0 0 67 13 16.25 NTNG2 0 genome.wustl.edu 37 9 135116397 135116397 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135116397 135116397 C T SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known silent c.1341 p.C447 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 20 0 0 11 4 26.6667 SETX 0 genome.wustl.edu 37 9 135139591 135139591 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135139591 135139591 A G SNP SETX ENST00000477049 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SETX HGNC ENSG00000107290 119 0 0 131 9 6.42857 SETX 0 genome.wustl.edu 37 9 135187172 135187172 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135187172 135187172 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known silent c.5346 p.A1782 0.793 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 58 0 0 44 9 16.9811 BARHL1 0 genome.wustl.edu 37 9 135462883 135462883 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135462883 135462883 G A SNP BARHL1 ENST00000263610 human ensembl 74_37 +1 known missense c.634 p.A212T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors BARHL1 HGNC ENSG00000125492 13 0 0 17 3 15 GTF3C4 0 genome.wustl.edu 37 9 135554007 135554007 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135554007 135554007 G T SNP GTF3C4 ENST00000372146 human ensembl 74_37 +1 known missense c.1001 p.G334V 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 133 0 0 117 9 7.14286 TSC1 0 genome.wustl.edu 37 9 135772974 135772974 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135772974 135772974 G T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known silent c.2649 p.A883 0.409 NULL pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 246 0 0 205 16 7.23982 TSC1 0 genome.wustl.edu 37 9 135786003 135786003 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135786003 135786003 G A SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known silent c.1218 p.Y406 0.044 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 186 0 0 165 12 6.77966 GFI1B 0 genome.wustl.edu 37 9 135865239 135865239 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135865239 135865239 C T SNP GFI1B ENST00000339463 human ensembl 74_37 +1 known silent c.759 p.C253 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1B HGNC ENSG00000165702 30 0 0 28 12 30 GTF3C5 0 genome.wustl.edu 37 9 135932181 135932181 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135932181 135932181 G A SNP GTF3C5 ENST00000372108 human ensembl 74_37 +1 known missense c.1300 p.G434R 0.994 NULL pfam_TF_IIIC_su-5 - no_errors GTF3C5 HGNC ENSG00000148308 58 0 0 58 5 7.93651 CEL 0 genome.wustl.edu 37 9 135941940 135941940 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135941940 135941940 C T SNP CEL ENST00000372080 human ensembl 74_37 +1 known missense c.571 p.H191Y 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 97 0 0 87 6 6.45161 SURF6 0 genome.wustl.edu 37 9 136198743 136198743 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136198743 136198743 T C SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.1048 p.I350V 0.949 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 18 0 0 16 3 15.7895 ADAMTSL2 0 genome.wustl.edu 37 9 136402566 136402566 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136402566 136402566 G A SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.457 p.D153N 0.989 superfamily_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 76 0 0 85 24 22.0183 ADAMTSL2 0 genome.wustl.edu 37 9 136412226 136412226 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136412226 136412226 T C SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known missense c.1157 p.F386S 1.000 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 240 0 0 186 49 20.8511 SARDH 0 genome.wustl.edu 37 9 136529132 136529132 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136529132 136529132 G A SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.2636 p.S879L 0.996 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 29 0 0 39 4 9.30233 SARDH 0 genome.wustl.edu 37 9 136555518 136555518 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136555518 136555518 T C SNP SARDH ENST00000371872 human ensembl 74_37 -1 known missense c.2053 p.I685V 1.000 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 51 0 0 65 5 7.14286 VAV2 0 genome.wustl.edu 37 9 136650998 136650998 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136650998 136650998 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.1432 p.G478S 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 21 0 0 28 4 12.5 VAV2 0 genome.wustl.edu 37 9 136662845 136662845 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136662845 136662845 C T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.923 p.R308K 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 35 0 0 21 5 19.2308 BRD3 0 genome.wustl.edu 37 9 136901428 136901428 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136901428 136901428 G A SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known silent c.1662 p.G554 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 60 0 0 68 7 9.33333 BRD3 0 genome.wustl.edu 37 9 136918499 136918499 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136918499 136918499 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.101 p.R34H 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 66 0 0 48 9 15.7895 COL5A1 0 genome.wustl.edu 37 9 137591897 137591897 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 137591897 137591897 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.420 p.Y140 0.982 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G 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 COL5A1 HGNC ENSG00000130635 74 0 0 92 6 6.12245 COL5A1 0 genome.wustl.edu 37 9 137658311 137658311 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 137658311 137658311 T C SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known silent c.2100 p.G700 0.626 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 COL5A1 HGNC ENSG00000130635 57 0 0 44 5 10.2041 COL5A1 0 genome.wustl.edu 37 9 137707450 137707450 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 137707450 137707450 G C SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4043 p.G1348A 1.000 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 COL5A1 HGNC ENSG00000130635 32 0 0 23 7 23.3333 PPP1R26 0 genome.wustl.edu 37 9 138377887 138377887 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 138377887 138377887 C T SNP PPP1R26 ENST00000356818 human ensembl 74_37 +1 known missense c.1531 p.L511F 0.000 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 68 0 0 61 8 11.5942 LCN1 0 genome.wustl.edu 37 9 138413364 138413364 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 138413364 138413364 C T SNP LCN1 ENST00000263598 human ensembl 74_37 +1 known silent c.21 p.A7 0.017 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland - no_errors LCN1 HGNC ENSG00000160349 45 0 0 30 5 14.2857 KCNT1 0 genome.wustl.edu 37 9 138594154 138594154 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 138594154 138594154 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.50 p.A17V 0.030 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 32 0 0 37 8 17.7778 CAMSAP1 0 genome.wustl.edu 37 9 138713275 138713275 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 138713275 138713275 G A SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.3265 p.P1089S 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 70 0 0 58 10 14.7059 CAMSAP1 0 genome.wustl.edu 37 9 138713714 138713714 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 138713714 138713714 C T SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known silent c.2826 p.R942 0.005 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 144 0 0 133 43 24.4318 PMPCA 0 genome.wustl.edu 37 9 139306576 139306576 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139306576 139306576 A G SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known missense c.199 p.T67A 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 144 0 0 115 8 6.50407 INPP5E 0 genome.wustl.edu 37 9 139326422 139326422 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139326422 139326422 C T SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.1403 p.R468H 0.999 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 42 0 0 33 9 21.4286 NOTCH1 0 genome.wustl.edu 37 9 139413179 139413179 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139413179 139413179 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.963 p.C321 0.955 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 54 0 0 60 5 7.69231 LCN10 0 genome.wustl.edu 37 9 139635324 139635324 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139635324 139635324 G A SNP LCN10 ENST00000497771 human ensembl 74_37 -1 known missense c.439 p.R147C 0.826 superfamily_Calycin-like superfamily_Calycin-like - no_errors LCN10 HGNC ENSG00000187922 40 0 0 33 4 10.8108 EDF1 0 genome.wustl.edu 37 9 139757745 139757745 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139757745 139757745 C T SNP EDF1 ENST00000224073 human ensembl 74_37 -1 known missense c.286 p.A96T 1.000 pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_DNA-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH - no_errors EDF1 HGNC ENSG00000107223 58 0 0 40 12 23.0769 LCN12 0 genome.wustl.edu 37 9 139847450 139847450 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139847450 139847450 G A SNP LCN12 ENST00000371633 human ensembl 74_37 +1 known missense c.221 p.G74D 0.001 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_N_gelatinase - no_errors LCN12 HGNC ENSG00000184925 135 0 0 127 7 5.22388 FUT7 0 genome.wustl.edu 37 9 139925299 139925299 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139925299 139925299 A G SNP FUT7 ENST00000314412 human ensembl 74_37 -1 known missense c.892 p.F298L 0.998 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT7 HGNC ENSG00000180549 36 0 0 40 4 9.09091 GRIN1 0 genome.wustl.edu 37 9 140055611 140055611 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140055611 140055611 T C SNP GRIN1 ENST00000371561 human ensembl 74_37 +1 known missense c.1301 p.V434A 1.000 smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_CaM-bd_C0_NMDA_rcpt_NR1,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN1 HGNC ENSG00000176884 22 0 0 25 3 10.7143 ANAPC2 0 genome.wustl.edu 37 9 140082263 140082263 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140082263 140082263 C T SNP ANAPC2 ENST00000323927 human ensembl 74_37 -1 known missense c.410 p.R137H 0.990 NULL pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology - no_errors ANAPC2 HGNC ENSG00000176248 89 0 0 92 13 12.381 SLC34A3 0 genome.wustl.edu 37 9 140127157 140127157 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140127157 140127157 T C SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known splice_site c.304+2 e3+2 1.000 - - - no_errors SLC34A3 HGNC ENSG00000198569 75 0 0 69 5 6.75676 NELFB 0 genome.wustl.edu 37 9 140166990 140166990 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140166990 140166990 C A SNP NELFB ENST00000343053 human ensembl 74_37 +1 known missense c.1519 p.L507I 0.919 pfam_COBRA1 pfam_COBRA1 - no_errors NELFB HGNC ENSG00000188986 20 0 0 23 2 8 NSMF 0 genome.wustl.edu 37 9 140347525 140347525 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140347525 140347525 C T SNP NSMF ENST00000371475 human ensembl 74_37 -1 known missense c.1030 p.V344M 0.007 NULL superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 50 0 0 53 5 8.62069 ZMYND19 0 genome.wustl.edu 37 9 140476996 140476996 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140476996 140476996 C T SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known silent c.683 p.*228 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 43 0 0 50 5 9.09091 ZMYND19 0 genome.wustl.edu 37 9 140477035 140477035 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140477035 140477035 C T SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known missense c.644 p.R215K 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 55 0 0 61 5 7.57576 ARRDC1 0 genome.wustl.edu 37 9 140507931 140507931 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140507931 140507931 G A SNP ARRDC1 ENST00000371421 human ensembl 74_37 +1 known silent c.249 p.E83 0.707 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ENSG00000197070 24 0 0 15 4 21.0526 ARRDC1 0 genome.wustl.edu 37 9 140509383 140509383 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140509383 140509383 G A SNP ARRDC1 ENST00000371421 human ensembl 74_37 +1 known missense c.1168 p.G390R 0.603 NULL pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC1 HGNC ENSG00000197070 88 0 0 79 8 9.1954 EHMT1 0 genome.wustl.edu 37 9 140671153 140671153 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140671153 140671153 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.1875 p.S625 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 91 0 0 86 7 7.52688 EHMT1 0 genome.wustl.edu 37 9 140707926 140707926 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140707926 140707926 T C SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3124 p.S1042P 0.792 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 30 0 0 34 2 5.55556 MIR602 0 genome.wustl.edu 37 9 140732894 140732894 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140732894 140732894 C T SNP MIR602 ENST00000384960 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR602 HGNC ENSG00000207693 112 0 0 113 8 6.61157 CACNA1B 0 genome.wustl.edu 37 9 140948380 140948380 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140948380 140948380 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.3893 p.A1298V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 214 0 0 191 19 9.04762 FREM1 0 genome.wustl.edu 37 9 14756389 14756389 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 14756389 14756389 A G SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.5393 p.L1798P 1.000 pfam_Calx_beta 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 20 0 0 17 6 26.087 FREM1 0 genome.wustl.edu 37 9 14842570 14842570 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 14842570 14842570 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known silent c.1485 p.F495 0.997 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 135 1 0.735294 125 7 5.30303 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 289 0 0 195 11 5.33981 BNC2 0 genome.wustl.edu 37 9 16583063 16583063 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 16583063 16583063 T C SNP BNC2 ENST00000380672 human ensembl 74_37 -1 known silent c.351 p.V117 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC ENSG00000173068 139 0 0 135 13 8.78378 CNTLN 0 genome.wustl.edu 37 9 17394904 17394904 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 17394904 17394904 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known nonsense c.2452 p.R818* 0.011 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 78 0 0 51 10 16.3934 SH3GL2 0 genome.wustl.edu 37 9 17789413 17789413 + Silent SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 17789413 17789413 T G SNP SH3GL2 ENST00000380607 human ensembl 74_37 +1 known silent c.489 p.G163 0.065 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,pfam_BAR_dom-cont,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3GL2 HGNC ENSG00000107295 112 1 0.884956 81 5 5.81395 ADAMTSL1 0 genome.wustl.edu 37 9 18504839 18504839 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 18504839 18504839 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.76 p.A26T 0.994 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 117 0 0 105 11 9.48276 ADAMTSL1 0 genome.wustl.edu 37 9 18684731 18684731 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 18684731 18684731 G A SNP ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known missense c.1507 p.A503T 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 37 0 0 35 3 7.89474 ADAMTSL1 0 genome.wustl.edu 37 9 18826377 18826377 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 18826377 18826377 T C SNP ADAMTSL1 ENST00000388710 human ensembl 74_37 +1 known missense c.133 p.S45P 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,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 ADAMTSL1 HGNC ENSG00000178031 34 0 0 28 3 9.67742 FAM154A 0 genome.wustl.edu 37 9 18928404 18928404 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 18928404 18928404 G A SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known silent c.1071 p.P357 0.242 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 61 0 0 52 15 22.3881 FAM154A 0 genome.wustl.edu 37 9 18941824 18941824 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 18941824 18941824 G A SNP FAM154A ENST00000380534 human ensembl 74_37 -1 known missense c.232 p.P78S 1.000 NULL NULL - no_errors FAM154A HGNC ENSG00000155875 106 0 0 84 9 9.67742 SMARCA2 0 genome.wustl.edu 37 9 2039604 2039604 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2039604 2039604 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.494 p.S165N 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 100 0 0 86 8 8.51064 SMARCA2 0 genome.wustl.edu 37 9 2039854 2039854 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2039854 2039854 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.744 p.T248 0.015 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 35 0 0 32 11 25.5814 FOCAD 0 genome.wustl.edu 37 9 20881935 20881935 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 20881935 20881935 C T SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known missense c.2383 p.H795Y 1.000 superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC ENSG00000188352 146 1 0.680272 121 12 9.02256 IFNA8 0 genome.wustl.edu 37 9 21409397 21409397 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 21409397 21409397 T A SNP IFNA8 ENST00000380205 human ensembl 74_37 +1 known silent c.222 p.A74 0.984 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA8 HGNC ENSG00000120242 126 0 0 96 14 12.7273 IFNE 0 genome.wustl.edu 37 9 21481336 21481336 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 21481336 21481336 G T SNP IFNE ENST00000448696 human ensembl 74_37 -1 known missense c.358 p.L120I 0.705 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNE HGNC ENSG00000184995 227 1 0.438596 155 20 11.4286 SMARCA2 0 genome.wustl.edu 37 9 2170423 2170423 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2170423 2170423 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4204 p.N1402D 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 59 0 0 50 5 9.09091 DMRTA1 0 genome.wustl.edu 37 9 22447088 22447088 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 22447088 22447088 C G SNP DMRTA1 ENST00000325870 human ensembl 74_37 +1 known missense c.24 p.S8R 0.292 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA1 HGNC ENSG00000176399 15 0 0 13 4 23.5294 VLDLR 0 genome.wustl.edu 37 9 2635505 2635505 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2635505 2635505 T C SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known silent c.135 p.C45 0.987 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors VLDLR HGNC ENSG00000147852 191 1 0.520833 138 12 8 VLDLR 0 genome.wustl.edu 37 9 2648781 2648781 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2648781 2648781 T C SNP VLDLR ENST00000382100 human ensembl 74_37 +1 known missense c.2075 p.I692T 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors VLDLR HGNC ENSG00000147852 84 0 0 70 8 10.2564 CAAP1 0 genome.wustl.edu 37 9 26842414 26842414 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 26842414 26842414 G T SNP CAAP1 ENST00000333916 human ensembl 74_37 -1 known missense c.971 p.P324H 1.000 NULL NULL - no_errors CAAP1 HGNC ENSG00000120159 145 0 0 91 21 18.75 PLAA 0 genome.wustl.edu 37 9 26919405 26919405 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 26919405 26919405 A T SNP PLAA ENST00000397292 human ensembl 74_37 -1 known missense c.1320 p.N440K 1.000 pfam_PLAA_fam_Ub-bd_PFU pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PLAA HGNC ENSG00000137055 275 0 0 158 13 7.60234 PLAA 0 genome.wustl.edu 37 9 26935065 26935065 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 26935065 26935065 A G SNP PLAA ENST00000397292 human ensembl 74_37 -1 known missense c.289 p.F97L 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PLAA HGNC ENSG00000137055 109 0 0 70 5 6.66667 LRRC19 0 genome.wustl.edu 37 9 26997993 26997993 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 26997993 26997993 A G SNP LRRC19 ENST00000380055 human ensembl 74_37 -1 known missense c.328 p.Y110H 0.001 smart_Leu-rich_rpt_typical-subtyp smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC19 HGNC ENSG00000184434 171 0 0 118 15 11.2782 KCNV2 0 genome.wustl.edu 37 9 2718173 2718173 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2718173 2718173 A T SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.434 p.Q145L 0.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl_volt-dep_Kv9 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 23 0 0 28 4 12.5 KCNV2 0 genome.wustl.edu 37 9 2718962 2718962 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2718962 2718962 A G SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.1223 p.Y408C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 36 0 0 41 3 6.81818 KCNV2 0 genome.wustl.edu 37 9 2729454 2729454 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2729454 2729454 C A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known silent c.1365 p.I455 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 78 0 0 74 5 6.32911 MOB3B 0 genome.wustl.edu 37 9 27455355 27455355 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 27455355 27455355 A G SNP MOB3B ENST00000262244 human ensembl 74_37 -1 known missense c.194 p.V65A 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3B HGNC ENSG00000120162 104 0 0 91 7 7.14286 ACO1 0 genome.wustl.edu 37 9 32418352 32418352 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 32418352 32418352 G A SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known missense c.501 p.M167I 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors ACO1 HGNC ENSG00000122729 92 0 0 83 6 6.74157 TAF1L 0 genome.wustl.edu 37 9 32630784 32630784 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 32630784 32630784 A G SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known silent c.4794 p.S1598 0.999 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 127 0 0 93 9 8.82353 TAF1L 0 genome.wustl.edu 37 9 32633593 32633593 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 32633593 32633593 A T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.1985 p.I662N 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 130 1 0.763359 110 8 6.77966 TAF1L 0 genome.wustl.edu 37 9 32634929 32634929 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 32634929 32634929 C T SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.649 p.A217T 0.998 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 151 0 0 136 13 8.72483 CHMP5 0 genome.wustl.edu 37 9 33271164 33271164 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 33271164 33271164 A G SNP CHMP5 ENST00000223500 human ensembl 74_37 +1 known silent c.330 p.K110 0.913 pfam_Snf7 pfam_Snf7 - no_errors CHMP5 HGNC ENSG00000086065 77 0 0 57 4 6.55738 AQP7 0 genome.wustl.edu 37 9 33386120 33386120 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 33386120 33386120 G A SNP AQP7 ENST00000297988 human ensembl 74_37 -1 known silent c.480 p.T160 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ENSG00000165269 92 0 0 80 5 5.88235 NOL6 0 genome.wustl.edu 37 9 33463366 33463366 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 33463366 33463366 C T SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.3068 p.R1023H 0.984 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 39 0 0 28 3 9.67742 NOL6 0 genome.wustl.edu 37 9 33468037 33468037 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 33468037 33468037 T C SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.1415 p.H472R 0.997 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 106 0 0 129 11 7.85714 PTENP1 0 genome.wustl.edu 37 9 33675762 33675762 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 33675762 33675762 A G SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 127 0 0 75 10 11.7647 PTENP1 0 genome.wustl.edu 37 9 33676298 33676298 + RNA SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 33676298 33676298 G C SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 110 0 0 77 22 22.2222 KIF24 0 genome.wustl.edu 37 9 34256008 34256008 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 34256008 34256008 T C SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known silent c.3597 p.V1199 0.002 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 91 0 0 98 8 7.54717 NUDT2 0 genome.wustl.edu 37 9 34343290 34343290 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 34343290 34343290 A G SNP NUDT2 ENST00000346365 human ensembl 74_37 +1 known missense c.296 p.K99R 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase - no_errors NUDT2 HGNC ENSG00000164978 112 0 0 89 6 6.31579 KIAA1161 0 genome.wustl.edu 37 9 34371038 34371038 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 34371038 34371038 C T SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1802 p.R601H 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 34 0 0 37 5 11.9048 KIAA1161 0 genome.wustl.edu 37 9 34372048 34372048 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 34372048 34372048 A G SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known silent c.792 p.R264 0.999 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 37 0 0 32 14 30.4348 GALT 0 genome.wustl.edu 37 9 34648762 34648762 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 34648762 34648762 C T SNP GALT ENST00000378842 human ensembl 74_37 +1 known missense c.691 p.R231C 1.000 pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 pfam_GalP_Utransf_N,pfam_GalP_Utransf_C,superfamily_HIT-like,pirsf_GalP_UDPtransf1,tigrfam_GalP_UDPtransf1 - no_errors GALT HGNC ENSG00000213930 191 0 0 180 13 6.73575 KIAA1045 0 genome.wustl.edu 37 9 34971621 34971621 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 34971621 34971621 G A SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.326 p.R109Q 0.998 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 177 0 0 170 15 8.10811 KIAA1045 0 genome.wustl.edu 37 9 34978047 34978047 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 34978047 34978047 T A SNP KIAA1045 ENST00000242315 human ensembl 74_37 +1 known missense c.1142 p.V381D 0.972 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 143 0 0 124 9 6.76692 C9orf131 0 genome.wustl.edu 37 9 35043238 35043238 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35043238 35043238 C T SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known silent c.612 p.S204 0.971 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 118 0 0 133 10 6.99301 FANCG 0 genome.wustl.edu 37 9 35078616 35078616 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35078616 35078616 C T SNP FANCG ENST00000378643 human ensembl 74_37 -1 known missense c.293 p.R98Q 0.005 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 41 0 0 38 8 17.3913 PIGO 0 genome.wustl.edu 37 9 35091255 35091255 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35091255 35091255 T A SNP PIGO ENST00000341666 human ensembl 74_37 -1 known missense c.2629 p.I877L 0.959 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 66 0 0 59 4 6.34921 FAM214B 0 genome.wustl.edu 37 9 35107420 35107420 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35107420 35107420 G T SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known silent c.852 p.P284 0.995 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 208 0 0 174 22 11.2245 FAM214B 0 genome.wustl.edu 37 9 35107652 35107652 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35107652 35107652 T A SNP FAM214B ENST00000322813 human ensembl 74_37 -1 known missense c.620 p.N207I 1.000 NULL NULL - no_errors FAM214B HGNC ENSG00000005238 65 0 0 74 4 5.12821 UNC13B 0 genome.wustl.edu 37 9 35380473 35380473 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35380473 35380473 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known silent c.1965 p.C655 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 76 0 0 57 7 10.9375 UNC13B 0 genome.wustl.edu 37 9 35382434 35382434 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35382434 35382434 C T SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.2489 p.A830V 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 173 0 0 139 12 7.94702 RUSC2 0 genome.wustl.edu 37 9 35547295 35547295 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35547295 35547295 C T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known silent c.777 p.S259 0.002 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 64 0 0 43 9 17.3077 RUSC2 0 genome.wustl.edu 37 9 35547634 35547634 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35547634 35547634 G A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known silent c.1116 p.P372 0.961 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 100 0 0 80 9 10.1124 RUSC2 0 genome.wustl.edu 37 9 35561189 35561189 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35561189 35561189 C T SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.4361 p.A1454V 1.000 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 88 0 0 79 6 7.05882 TESK1 0 genome.wustl.edu 37 9 35609008 35609008 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35609008 35609008 C T SNP TESK1 ENST00000336395 human ensembl 74_37 +1 known missense c.1150 p.R384W 0.980 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 94 0 0 100 39 28.0576 SIT1 0 genome.wustl.edu 37 9 35650822 35650822 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35650822 35650822 G A SNP SIT1 ENST00000259608 human ensembl 74_37 -1 known missense c.29 p.A10V 0.003 NULL NULL - no_errors SIT1 HGNC ENSG00000137078 25 0 0 13 3 18.75 TPM2 0 genome.wustl.edu 37 9 35685136 35685136 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35685136 35685136 G A SNP TPM2 ENST00000378292 human ensembl 74_37 -1 known silent c.564 p.S188 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 92 0 0 69 8 10.3896 HINT2 0 genome.wustl.edu 37 9 35813042 35813042 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35813042 35813042 T C SNP HINT2 ENST00000461169 human ensembl 74_37 -1 known rna NULL NULL 0.939 - - - no_errors HINT2 HGNC ENSG00000137133 133 0 0 139 11 7.33333 ZBTB5 0 genome.wustl.edu 37 9 37440560 37440560 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 37440560 37440560 G A SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known silent c.1989 p.T663 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB5 HGNC ENSG00000168795 76 0 0 49 7 12.5 FBXO10 0 genome.wustl.edu 37 9 37521836 37521836 + Splice_Site SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 37521836 37521836 C T SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known splice_site c.1931-1 e7-1 1.000 - - - no_errors FBXO10 HGNC ENSG00000147912 34 0 0 23 4 14.8148 FBXO10 0 genome.wustl.edu 37 9 37531990 37531990 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 37531990 37531990 G A SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known silent c.1485 p.G495 0.127 superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1 pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 62 0 0 40 11 21.5686 SLC25A51 0 genome.wustl.edu 37 9 37888102 37888102 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 37888102 37888102 T G SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.446 p.K149T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 173 0 0 133 15 10.1351 GLIS3 0 genome.wustl.edu 37 9 3898791 3898791 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 3898791 3898791 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.2028 p.C676 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 70 0 0 41 13 24.0741 GLIS3 0 genome.wustl.edu 37 9 4117945 4117945 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 4117945 4117945 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.1533 p.Y511 0.997 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 69 0 0 84 10 10.6383 SPATA31A6 0 genome.wustl.edu 37 9 43630570 43630570 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 43630570 43630570 G T SNP SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known silent c.132 p.P44 0.004 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 197 1 0.505051 194 11 5.36585 JAK2 0 genome.wustl.edu 37 9 5044429 5044429 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 5044429 5044429 G A SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.377 p.S126N 0.898 smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,prints_Tyr_kinase_non-rcpt_Jak2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 115 1 0.862069 79 6 7.05882 PDCD1LG2 0 genome.wustl.edu 37 9 5557640 5557640 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 5557640 5557640 T A SNP PDCD1LG2 ENST00000397747 human ensembl 74_37 +1 known missense c.654 p.H218Q 0.000 NULL pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors PDCD1LG2 HGNC ENSG00000197646 194 0 0 144 14 8.86076 KDM4C 0 genome.wustl.edu 37 9 7013971 7013971 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 7013971 7013971 T C SNP KDM4C ENST00000381309 human ensembl 74_37 +1 known missense c.2152 p.C718R 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 113 0 0 96 9 8.57143 FOXD4L3 0 genome.wustl.edu 37 9 70918913 70918913 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 70918913 70918913 G A SNP FOXD4L3 ENST00000342833 human ensembl 74_37 +1 known missense c.1046 p.R349H 0.967 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L3 HGNC ENSG00000187559 142 0 0 157 18 10.2857 PGM5 0 genome.wustl.edu 37 9 70999325 70999325 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 70999325 70999325 G A SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.436 p.D146N 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 108 0 0 89 8 8.24742 KANK1 0 genome.wustl.edu 37 9 710960 710960 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 710960 710960 A C SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.194 p.K65T 1.000 pfam_KN_motif pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 88 0 0 75 7 8.53659 TJP2 0 genome.wustl.edu 37 9 71836211 71836211 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 71836211 71836211 C T SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known nonsense c.844 p.R282* 0.806 NULL pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 16 0 0 9 3 25 APBA1 0 genome.wustl.edu 37 9 72046302 72046302 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 72046302 72046302 T C SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.2455 p.T819A 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 93 0 0 103 6 5.50459 PTAR1 0 genome.wustl.edu 37 9 72338404 72338404 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 72338404 72338404 G T SNP PTAR1 ENST00000340434 human ensembl 74_37 -1 known missense c.785 p.P262H 0.019 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors PTAR1 HGNC ENSG00000188647 108 1 0.917431 91 11 10.7843 C9orf135 0 genome.wustl.edu 37 9 72521056 72521056 + RNA SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 72521056 72521056 T A SNP C9orf135 ENST00000466872 human ensembl 74_37 +1 known rna NULL NULL 0.476 - - - no_errors C9orf135 HGNC ENSG00000204711 81 0 0 62 7 10.1449 KLF9 0 genome.wustl.edu 37 9 73002756 73002756 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 73002756 73002756 C T SNP KLF9 ENST00000377126 human ensembl 74_37 -1 known missense c.671 p.R224Q 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF9 HGNC ENSG00000119138 80 0 0 60 15 20 TRPM3 0 genome.wustl.edu 37 9 73240126 73240126 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 73240126 73240126 T C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.1835 p.N612S 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 27 0 0 32 3 8.57143 TMEM2 0 genome.wustl.edu 37 9 74315635 74315635 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 74315635 74315635 T A SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.3300 p.E1100D 0.032 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 113 0 0 89 8 8.24742 TMEM2 0 genome.wustl.edu 37 9 74360123 74360123 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 74360123 74360123 C T SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.845 p.S282N 0.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 82 0 0 58 4 6.45161 GDA 0 genome.wustl.edu 37 9 74817550 74817550 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 74817550 74817550 A G SNP GDA ENST00000238018 human ensembl 74_37 +1 known silent c.276 p.G92 1.000 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 141 0 0 103 9 8.03571 TMC1 0 genome.wustl.edu 37 9 75355124 75355124 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 75355124 75355124 A C SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.452 p.K151T 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 81 0 0 49 13 20.9677 TMC1 0 genome.wustl.edu 37 9 75450918 75450918 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 75450918 75450918 C T SNP TMC1 ENST00000486417 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors TMC1 HGNC ENSG00000165091 103 0 0 64 18 21.9512 RORB 0 genome.wustl.edu 37 9 77280434 77280434 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 77280434 77280434 G A SNP RORB ENST00000396204 human ensembl 74_37 +1 known missense c.956 p.C319Y 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,pfscan_Znf_hrmn_rcpt - no_errors RORB HGNC ENSG00000198963 137 0 0 87 9 9.375 TRPM6 0 genome.wustl.edu 37 9 77397726 77397726 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 77397726 77397726 A G SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.2963 p.L988P 1.000 pfam_Ion_trans_dom pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 96 0 0 89 5 5.31915 NMRK1 0 genome.wustl.edu 37 9 77676361 77676361 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 77676361 77676361 G A SNP NMRK1 ENST00000482537 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors NMRK1 HGNC ENSG00000106733 30 0 0 23 3 11.5385 OSTF1 0 genome.wustl.edu 37 9 77755767 77755767 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 77755767 77755767 A G SNP OSTF1 ENST00000346234 human ensembl 74_37 +1 known missense c.505 p.R169G 0.993 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt - no_errors OSTF1 HGNC ENSG00000134996 123 0 0 95 8 7.76699 PCSK5 0 genome.wustl.edu 37 9 78953147 78953147 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 78953147 78953147 T C SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.4669 p.Y1557H 0.997 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 26 0 0 25 4 13.7931 PRUNE2 0 genome.wustl.edu 37 9 79323928 79323928 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79323928 79323928 A G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.2185 p.Y729H 0.963 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 168 1 0.591716 139 9 6.08108 PRUNE2 0 genome.wustl.edu 37 9 79465470 79465470 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79465470 79465470 A G SNP PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel missense c.253 p.F85L 0.993 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 208 0 0 173 11 5.97826 FOXB2 0 genome.wustl.edu 37 9 79634780 79634780 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79634780 79634780 C A SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known nonsense c.210 p.C70* 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 56 0 0 50 3 5.66038 VPS13A 0 genome.wustl.edu 37 9 79896801 79896801 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79896801 79896801 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.2923 p.D975N 0.003 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 101 0 0 45 4 8.16327 VPS13A 0 genome.wustl.edu 37 9 79946953 79946953 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79946953 79946953 T C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.6019 p.S2007P 0.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 268 1 0.371747 166 22 11.7021 GNA14 0 genome.wustl.edu 37 9 80144131 80144131 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 80144131 80144131 T C SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known missense c.163 p.M55V 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA14 HGNC ENSG00000156049 329 0 0 267 27 9.18367 GNAQ 0 genome.wustl.edu 37 9 80343493 80343493 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 80343493 80343493 T C SNP GNAQ ENST00000286548 human ensembl 74_37 -1 known missense c.826 p.K276E 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNAQ HGNC ENSG00000156052 244 0 0 228 21 8.43373 PSAT1 0 genome.wustl.edu 37 9 80915531 80915531 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 80915531 80915531 T C SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.74 p.I25T 0.998 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 54 0 0 41 3 6.81818 PSAT1 0 genome.wustl.edu 37 9 80943013 80943013 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 80943013 80943013 C T SNP PSAT1 ENST00000376588 human ensembl 74_37 +1 known missense c.916 p.R306C 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,pirsf_Pser_aminoTfrase,tigrfam_Pser_aminoTfrase_subgr - no_errors PSAT1 HGNC ENSG00000135069 68 0 0 56 6 9.67742 TLE4 0 genome.wustl.edu 37 9 82242307 82242307 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 82242307 82242307 C T SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known nonsense c.334 p.Q112* 1.000 pfam_Groucho/TLE_N pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 127 0 0 91 11 10.7843 TLE1 0 genome.wustl.edu 37 9 84199195 84199195 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 84199195 84199195 C T SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.2231 p.S744N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 104 0 0 90 7 7.21649 TLE1 0 genome.wustl.edu 37 9 84248267 84248267 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 84248267 84248267 C T SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.590 p.G197D 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 58 0 0 40 10 20 SPATA31D3 0 genome.wustl.edu 37 9 84562814 84562814 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 84562814 84562814 C T SNP SPATA31D3 ENST00000334208 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D3 HGNC ENSG00000186788 43 0 0 31 6 16.2162 SPATA31D1 0 genome.wustl.edu 37 9 84606581 84606581 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 84606581 84606581 T C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.1196 p.I399T 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 106 0 0 70 6 7.89474 SPATA31D1 0 genome.wustl.edu 37 9 84607051 84607051 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 84607051 84607051 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.1666 p.P556S 0.001 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 133 0 0 129 15 10.4167 SPATA31D1 0 genome.wustl.edu 37 9 84608052 84608052 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 84608052 84608052 C A SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.2667 p.S889 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 87 0 0 73 6 7.59494 RASEF 0 genome.wustl.edu 37 9 85612040 85612040 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 85612040 85612040 A T SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.1807 p.F603I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 83 0 0 52 6 10.3448 RASEF 0 genome.wustl.edu 37 9 85615158 85615158 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 85615158 85615158 G A SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.1649 p.A550V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 70 0 0 55 4 6.77966 FRMD3 0 genome.wustl.edu 37 9 85913663 85913663 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 85913663 85913663 C A SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.1070 p.R357I 1.000 pfam_FERM-adjacent pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 55 0 0 47 4 7.84314 UBQLN1 0 genome.wustl.edu 37 9 86276735 86276735 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 86276735 86276735 A C SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known silent c.1737 p.A579 0.973 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 141 0 0 115 7 5.7377 UBQLN1 0 genome.wustl.edu 37 9 86294735 86294735 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 86294735 86294735 A T SNP UBQLN1 ENST00000376395 human ensembl 74_37 -1 known missense c.666 p.N222K 1.000 superfamily_ARM-type_fold,smart_STI1_HS-bd pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN1 HGNC ENSG00000135018 142 0 0 96 13 11.9266 C9orf64 0 genome.wustl.edu 37 9 86570365 86570365 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 86570365 86570365 A G SNP C9orf64 ENST00000376344 human ensembl 74_37 -1 known silent c.528 p.N176 0.603 pfam_DUF2419 pfam_DUF2419 - no_errors C9orf64 HGNC ENSG00000165118 75 0 0 84 5 5.61798 NTRK2 0 genome.wustl.edu 37 9 87285819 87285819 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 87285819 87285819 C T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known silent c.156 p.I52 0.998 pfam_LRR-contain_N,smart_LRR-contain_N,prints_Tyr_kin_neurotrophic_rcpt_2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 91 0 0 60 19 24.0506 NTRK2 0 genome.wustl.edu 37 9 87635214 87635214 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 87635214 87635214 G A SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.2266 p.G756R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 167 0 0 140 16 10.2564 AGTPBP1 0 genome.wustl.edu 37 9 88234216 88234216 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 88234216 88234216 A C SNP AGTPBP1 ENST00000376109 human ensembl 74_37 -1 known missense c.2136 p.N712K 0.998 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGTPBP1 HGNC ENSG00000135049 41 0 0 26 3 10.3448 ZCCHC6 0 genome.wustl.edu 37 9 88943388 88943388 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 88943388 88943388 C T SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.1475 p.S492N 0.997 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 146 0 0 108 12 10 SPATA31E1 0 genome.wustl.edu 37 9 90503684 90503684 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 90503684 90503684 G A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.4282 p.G1428S 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 35 0 0 32 7 17.9487 SPATA31C1 0 genome.wustl.edu 37 9 90535543 90535543 + RNA SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 90535543 90535543 C A SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31C1 HGNC ENSG00000230246 204 0 0 168 12 6.66667 S1PR3 0 genome.wustl.edu 37 9 91617218 91617218 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 91617218 91617218 A G SNP S1PR3 ENST00000358157 human ensembl 74_37 +1 known missense c.1103 p.N368S 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG3_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_EDG1_rcpt,prints_Cnbnoid_rcpt - no_errors S1PR3 HGNC ENSG00000213694 41 0 0 37 4 9.7561 SEMA4D 0 genome.wustl.edu 37 9 92003858 92003858 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 92003858 92003858 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known silent c.879 p.L293 0.806 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 149 0 0 143 13 8.33333 SEMA4D 0 genome.wustl.edu 37 9 92008521 92008521 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 92008521 92008521 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.464 p.R155K 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 125 0 0 97 8 7.61905 SYK 0 genome.wustl.edu 37 9 93606454 93606454 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 93606454 93606454 C T SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.274 p.H92Y 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 24 0 0 57 4 6.55738 SYK 0 genome.wustl.edu 37 9 93636501 93636501 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 93636501 93636501 G A SNP SYK ENST00000375746 human ensembl 74_37 +1 known missense c.931 p.G311R 0.001 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 72 0 0 62 6 8.82353 AUH 0 genome.wustl.edu 37 9 93979588 93979588 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 93979588 93979588 C T SNP AUH ENST00000375731 human ensembl 74_37 -1 known missense c.865 p.A289T 1.000 NULL pfam_Crotonase_core_superfam - no_errors AUH HGNC ENSG00000148090 88 0 0 52 6 10.3448 NFIL3 0 genome.wustl.edu 37 9 94172249 94172249 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 94172249 94172249 T C SNP NFIL3 ENST00000297689 human ensembl 74_37 -1 known silent c.768 p.S256 0.323 pfam_Vert_IL3-reg_TF,pirsf_TF_bZIP_E4BP4 pfam_Vert_IL3-reg_TF,pfam_bZIP,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 181 0 0 148 13 8.07453 ROR2 0 genome.wustl.edu 37 9 94487031 94487031 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 94487031 94487031 G A SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known missense c.1745 p.T582M 0.999 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 54 0 0 40 14 25.9259 IARS 0 genome.wustl.edu 37 9 95040154 95040154 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95040154 95040154 A T SNP IARS ENST00000375643 human ensembl 74_37 -1 known nonsense c.885 p.Y295* 0.990 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 45 0 0 31 4 11.4286 NOL8 0 genome.wustl.edu 37 9 95064009 95064009 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95064009 95064009 A T SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.2999 p.I1000K 0.910 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 48 0 0 28 3 9.67742 NOL8 0 genome.wustl.edu 37 9 95077604 95077604 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95077604 95077604 C T SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.1303 p.E435K 0.002 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 60 0 0 39 6 13.3333 ECM2 0 genome.wustl.edu 37 9 95258669 95258669 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95258669 95258669 T A SNP ECM2 ENST00000344604 human ensembl 74_37 -1 known missense c.2028 p.E676D 0.977 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C - no_errors ECM2 HGNC ENSG00000106823 106 0 0 71 5 6.57895 IPPK 0 genome.wustl.edu 37 9 95418797 95418797 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95418797 95418797 C T SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.166 p.V56M 1.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 82 0 0 62 25 28.7356 BICD2 0 genome.wustl.edu 37 9 95482980 95482980 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95482980 95482980 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.664 p.L222F 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 69 0 0 63 8 11.2676 BICD2 0 genome.wustl.edu 37 9 95485026 95485026 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95485026 95485026 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known missense c.518 p.R173Q 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 54 0 0 50 8 13.7931 BICD2 0 genome.wustl.edu 37 9 95491462 95491462 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95491462 95491462 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known silent c.297 p.R99 0.905 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 65 0 0 58 6 9.375 FGD3 0 genome.wustl.edu 37 9 95780478 95780478 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95780478 95780478 T A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1336 p.S446T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 117 0 0 82 10 10.8696 FGD3 0 genome.wustl.edu 37 9 95795136 95795136 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 95795136 95795136 T C SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.1766 p.V589A 0.000 superfamily_Znf_FYVE_PHD,smart_Znf_FYVE pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 83 0 0 96 10 9.43396 FAM120A 0 genome.wustl.edu 37 9 96294524 96294524 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 96294524 96294524 T C SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known missense c.1906 p.Y636H 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 202 0 0 175 19 9.79381 FAM120A 0 genome.wustl.edu 37 9 96312895 96312895 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 96312895 96312895 G A SNP FAM120A ENST00000333936 human ensembl 74_37 +1 known silent c.2280 p.R760 0.980 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 77 0 0 77 5 6.09756 DMRT3 0 genome.wustl.edu 37 9 977247 977247 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 977247 977247 C T SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known silent c.246 p.S82 1.000 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 30 0 0 31 3 8.82353 PTCH1 0 genome.wustl.edu 37 9 98209422 98209422 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 98209422 98209422 C A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.4116 p.T1372 0.064 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 51 0 0 56 10 15.1515 PTCH1 0 genome.wustl.edu 37 9 98222017 98222017 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 98222017 98222017 C T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.2752 p.A918T 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 66 0 0 47 17 26.5625 PTCH1 0 genome.wustl.edu 37 9 98231206 98231206 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 98231206 98231206 T C SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.2077 p.T693A 0.612 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 65 0 0 84 7 7.69231 PTCH1 0 genome.wustl.edu 37 9 98232174 98232174 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 98232174 98232174 G A SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.1768 p.L590F 1.000 pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 107 0 0 101 13 11.4035 PTCH1 0 genome.wustl.edu 37 9 98242681 98242681 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 98242681 98242681 A T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known missense c.936 p.N312K 0.871 tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 195 0 0 152 18 10.5882 ERCC6L2 0 genome.wustl.edu 37 9 98678046 98678046 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 98678046 98678046 C G SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known silent c.351 p.V117 0.947 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 107 0 0 86 12 12.2449 ERCC6L2 0 genome.wustl.edu 37 9 98683463 98683463 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 98683463 98683463 T C SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.631 p.Y211H 0.998 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 57 0 0 41 3 6.81818 DMRT3 0 genome.wustl.edu 37 9 990339 990339 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 990339 990339 G A SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known silent c.753 p.P251 0.077 pfam_DMA,superfamily_UBA-like pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 92 0 0 93 7 7 ENSG00000233820 0 genome.wustl.edu 37 9 99489207 99489207 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 99489207 99489207 C T SNP ENSG00000233820 ENST00000602289 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-535M15.2 Clone_based_vega_gene ENSG00000233820 77 0 0 76 6 7.31707 ZNF510 0 genome.wustl.edu 37 9 99522242 99522242 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 99522242 99522242 A T SNP ZNF510 ENST00000223428 human ensembl 74_37 -1 known missense c.870 p.N290K 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF510 HGNC ENSG00000081386 89 0 0 56 5 8.19672 NOX1 0 genome.wustl.edu 37 X 100104913 100104913 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100104913 100104913 C T SNP NOX1 ENST00000372966 human ensembl 74_37 -1 known missense c.1144 p.D382N 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC ENSG00000007952 32 0 0 30 4 11.7647 XKRX 0 genome.wustl.edu 37 X 100169342 100169342 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100169342 100169342 C T SNP XKRX ENST00000328526 human ensembl 74_37 -1 known silent c.1374 p.R458 0.991 NULL pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 320 0 0 251 21 7.72059 XKRX 0 genome.wustl.edu 37 X 100177865 100177865 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100177865 100177865 A T SNP XKRX ENST00000328526 human ensembl 74_37 -1 known missense c.560 p.I187N 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKRX HGNC ENSG00000182489 103 0 0 100 10 9.09091 TRMT2B 0 genome.wustl.edu 37 X 100292924 100292924 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100292924 100292924 G A SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known silent c.420 p.L140 1.000 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 458 0 0 320 25 7.24638 TMEM35 0 genome.wustl.edu 37 X 100334082 100334082 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100334082 100334082 A G SNP TMEM35 ENST00000372930 human ensembl 74_37 +1 known missense c.91 p.R31G 1.000 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 37 0 0 18 8 30.7692 TMEM35 0 genome.wustl.edu 37 X 100349662 100349662 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100349662 100349662 C T SNP TMEM35 ENST00000372930 human ensembl 74_37 +1 known missense c.221 p.A74V 1.000 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 168 0 0 160 32 16.6667 TMEM35 0 genome.wustl.edu 37 X 100349842 100349842 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100349842 100349842 A G SNP TMEM35 ENST00000372930 human ensembl 74_37 +1 known missense c.401 p.K134R 1.000 NULL NULL - no_errors TMEM35 HGNC ENSG00000126950 112 0 0 117 17 12.6866 DRP2 0 genome.wustl.edu 37 X 100515554 100515554 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100515554 100515554 G A SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known missense c.2818 p.A940T 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 223 0 0 213 14 6.1674 WWC3 0 genome.wustl.edu 37 X 10058909 10058909 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 10058909 10058909 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.476 p.T159I 0.997 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 94 0 0 62 15 19.4805 BTK 0 genome.wustl.edu 37 X 100608210 100608210 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100608210 100608210 T C SNP BTK ENST00000308731 human ensembl 74_37 -1 known missense c.1880 p.Y627C 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors BTK HGNC ENSG00000010671 269 0 0 193 19 8.96226 WWC3 0 genome.wustl.edu 37 X 10077876 10077876 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 10077876 10077876 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.790 p.A264T 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 133 1 0.746269 99 21 17.5 ARMCX1 0 genome.wustl.edu 37 X 100808785 100808785 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 100808785 100808785 T C SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known missense c.872 p.V291A 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 85 0 0 52 6 10.3448 WWC3 0 genome.wustl.edu 37 X 10096688 10096688 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 10096688 10096688 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.2372 p.T791M 0.852 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 49 0 0 64 4 5.88235 NXF5 0 genome.wustl.edu 37 X 101087249 101087249 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 101087249 101087249 T C SNP NXF5 ENST00000473265 human ensembl 74_37 -1 known silent c.1089 p.R363 0.000 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 8 0 0 12 3 20 NXF5 0 genome.wustl.edu 37 X 101095513 101095513 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 101095513 101095513 T C SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known missense c.656 p.N219S 1.000 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 90 0 0 72 8 10 ZMAT1 0 genome.wustl.edu 37 X 101152909 101152909 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 101152909 101152909 G A SNP ZMAT1 ENST00000372782 human ensembl 74_37 -1 known missense c.437 p.A146V 0.995 smart_Znf_U1 superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT1 HGNC ENSG00000166432 117 0 0 97 8 7.61905 TCEAL2 0 genome.wustl.edu 37 X 101382346 101382346 + Nonsense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 101382346 101382346 A T SNP TCEAL2 ENST00000329035 human ensembl 74_37 +1 known nonsense c.544 p.R182* 0.036 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL2 HGNC ENSG00000184905 210 0 0 192 12 5.88235 NXF4 0 genome.wustl.edu 37 X 101818154 101818154 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 101818154 101818154 A G SNP NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors NXF4 HGNC ENSG00000196970 240 0 0 219 22 9.12863 BEX1 0 genome.wustl.edu 37 X 102318123 102318123 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 102318123 102318123 A T SNP BEX1 ENST00000372728 human ensembl 74_37 -1 known missense c.80 p.V27D 0.001 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors BEX1 HGNC ENSG00000133169 339 0 0 310 34 9.88372 TCEAL4 0 genome.wustl.edu 37 X 102842091 102842091 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 102842091 102842091 C T SNP TCEAL4 ENST00000372629 human ensembl 74_37 +1 known missense c.917 p.A306V 0.325 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL4 HGNC ENSG00000133142 196 0 0 182 22 10.7843 RAB9B 0 genome.wustl.edu 37 X 103080451 103080451 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 103080451 103080451 G A SNP RAB9B ENST00000243298 human ensembl 74_37 -1 known silent c.264 p.S88 0.738 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB9B HGNC ENSG00000123570 129 0 0 120 7 5.51181 ESX1 0 genome.wustl.edu 37 X 103499107 103499107 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 103499107 103499107 G A SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known silent c.234 p.G78 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 157 0 0 137 44 24.3094 MID1 0 genome.wustl.edu 37 X 10437780 10437780 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 10437780 10437780 G A SNP MID1 ENST00000317552 human ensembl 74_37 -1 known silent c.1242 p.Y414 0.568 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 160 0 0 105 19 15.3226 SERPINA7 0 genome.wustl.edu 37 X 105279292 105279292 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 105279292 105279292 G A SNP SERPINA7 ENST00000327674 human ensembl 74_37 -1 known missense c.707 p.P236L 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA7 HGNC ENSG00000123561 192 0 0 171 11 6.04396 CXorf57 0 genome.wustl.edu 37 X 105875884 105875884 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 105875884 105875884 A G SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known missense c.1009 p.T337A 1.000 superfamily_NA-bd_OB-fold superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 70 0 0 49 5 9.25926 RNF128 0 genome.wustl.edu 37 X 106028294 106028294 + Splice_Site SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 106028294 106028294 G A SNP RNF128 ENST00000255499 human ensembl 74_37 +1 known splice_site c.733-1 e3-1 1.000 - - - no_errors RNF128 HGNC ENSG00000133135 162 1 0.613497 87 8 8.42105 MORC4 0 genome.wustl.edu 37 X 106185904 106185904 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 106185904 106185904 T C SNP MORC4 ENST00000355610 human ensembl 74_37 -1 known silent c.2217 p.A739 0.000 NULL pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC ENSG00000133131 199 0 0 172 16 8.51064 RBM41 0 genome.wustl.edu 37 X 106331799 106331799 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 106331799 106331799 C T SNP RBM41 ENST00000372479 human ensembl 74_37 -1 known nonsense c.794 p.W265* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM41 HGNC ENSG00000089682 101 0 0 85 5 5.55556 FRMPD3 0 genome.wustl.edu 37 X 106803566 106803566 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 106803566 106803566 T A SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.941 p.I314N 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 88 0 0 88 9 9.27835 VSIG1 0 genome.wustl.edu 37 X 107288361 107288361 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 107288361 107288361 A T SNP VSIG1 ENST00000415430 human ensembl 74_37 +1 known missense c.1 p.M1L 0.055 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 47 0 0 37 6 13.9535 ATG4A 0 genome.wustl.edu 37 X 107395055 107395055 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 107395055 107395055 A C SNP ATG4A ENST00000372232 human ensembl 74_37 +1 known missense c.984 p.K328N 0.998 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 396 0 0 266 20 6.99301 COL4A6 0 genome.wustl.edu 37 X 107457431 107457431 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 107457431 107457431 C A SNP COL4A6 ENST00000372216 human ensembl 74_37 -1 known missense c.355 p.G119C 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC ENSG00000197565 111 0 0 112 9 7.43802 COL4A5 0 genome.wustl.edu 37 X 107935981 107935981 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 107935981 107935981 C T SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.4532 p.T1511M 0.997 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 122 1 0.813008 85 9 9.57447 IRS4 0 genome.wustl.edu 37 X 107979097 107979097 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 107979097 107979097 C T SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.478 p.A160T 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 82 0 0 71 7 8.97436 ACSL4 0 genome.wustl.edu 37 X 108924228 108924228 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 108924228 108924228 G A SNP ACSL4 ENST00000340800 human ensembl 74_37 -1 known silent c.777 p.N259 0.911 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ENSG00000068366 177 0 0 138 9 6.12245 RGAG1 0 genome.wustl.edu 37 X 109696605 109696605 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 109696605 109696605 T C SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.2760 p.C920 0.004 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 193 0 0 184 18 8.91089 TDGF1P3 0 genome.wustl.edu 37 X 109764545 109764545 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 109764545 109764545 C T SNP TDGF1P3 ENST00000602699 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TDGF1P3 HGNC ENSG00000225366 60 0 0 60 9 13.0435 CHRDL1 0 genome.wustl.edu 37 X 109937471 109937471 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 109937471 109937471 C T SNP CHRDL1 ENST00000372042 human ensembl 74_37 -1 known missense c.698 p.R233Q 0.998 NULL pfam_VWF_C,smart_VWF_C,pfscan_VWF_C - no_errors CHRDL1 HGNC ENSG00000101938 152 0 0 112 33 22.7586 ALG13 0 genome.wustl.edu 37 X 110925502 110925502 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 110925502 110925502 A T SNP ALG13 ENST00000371979 human ensembl 74_37 +1 known missense c.224 p.D75V 1.000 pfam_Glyco_trans_28_C pfam_Glyco_trans_28_C - no_errors ALG13 HGNC ENSG00000101901 130 0 0 105 6 5.40541 TRPC5 0 genome.wustl.edu 37 X 111019870 111019870 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 111019870 111019870 A G SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.2593 p.Y865H 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 181 0 0 147 11 6.96203 TRPC5 0 genome.wustl.edu 37 X 111195483 111195483 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 111195483 111195483 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.166 p.E56K 0.998 superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 115 0 0 99 7 6.60377 ARHGAP6 0 genome.wustl.edu 37 X 11157336 11157336 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 11157336 11157336 C T SNP ARHGAP6 ENST00000337414 human ensembl 74_37 -1 known missense c.2572 p.G858R 0.127 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 9 0 0 14 5 26.3158 LHFPL1 0 genome.wustl.edu 37 X 111914414 111914414 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 111914414 111914414 G A SNP LHFPL1 ENST00000371968 human ensembl 74_37 -1 known missense c.205 p.R69C 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 100 0 0 107 12 10.084 AMOT 0 genome.wustl.edu 37 X 112035138 112035138 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 112035138 112035138 T C SNP AMOT ENST00000371959 human ensembl 74_37 -1 known silent c.1848 p.A616 0.179 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 164 0 0 111 36 24.4898 CXorf61 0 genome.wustl.edu 37 X 115592931 115592931 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 115592931 115592931 A G SNP CXorf61 ENST00000371894 human ensembl 74_37 -1 known missense c.319 p.S107P 0.000 NULL NULL - no_errors CXorf61 HGNC ENSG00000204019 216 0 0 175 12 6.41711 WDR44 0 genome.wustl.edu 37 X 117528054 117528054 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 117528054 117528054 C T SNP WDR44 ENST00000254029 human ensembl 74_37 +1 known missense c.863 p.T288I 0.020 NULL 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 WDR44 HGNC ENSG00000131725 117 0 0 97 6 5.82524 DOCK11 0 genome.wustl.edu 37 X 117695459 117695459 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 117695459 117695459 C T SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known silent c.672 p.D224 0.533 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 136 0 0 83 22 20.9524 DOCK11 0 genome.wustl.edu 37 X 117742033 117742033 + Splice_Site SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 117742033 117742033 A G SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known splice_site c.2682-2 e25-2 1.000 - - - no_errors DOCK11 HGNC ENSG00000147251 128 0 0 71 22 23.6559 SLC25A43 0 genome.wustl.edu 37 X 118586848 118586848 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 118586848 118586848 T C SNP SLC25A43 ENST00000336249 human ensembl 74_37 +1 known missense c.673 p.Y225H 0.996 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A43 HGNC ENSG00000077713 123 0 0 83 8 8.79121 UBE2A 0 genome.wustl.edu 37 X 118708930 118708930 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 118708930 118708930 C T SNP UBE2A ENST00000371558 human ensembl 74_37 +1 known silent c.111 p.N37 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2A HGNC ENSG00000077721 60 0 0 60 7 10.4478 NKRF 0 genome.wustl.edu 37 X 118723331 118723331 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 118723331 118723331 A G SNP NKRF ENST00000542113 human ensembl 74_37 -1 known missense c.2102 p.M701T 1.000 NULL pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 104 0 0 95 9 8.65385 SEPT6 0 genome.wustl.edu 37 X 118797509 118797509 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 118797509 118797509 C T SNP SEPT6 ENST00000394617 human ensembl 74_37 -1 known missense c.367 p.V123M 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 411 0 0 336 27 7.43802 UPF3B 0 genome.wustl.edu 37 X 118968985 118968985 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 118968985 118968985 A T SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known silent c.1308 p.R436 0.980 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 147 0 0 111 19 14.6154 RNF113A 0 genome.wustl.edu 37 X 119005489 119005489 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 119005489 119005489 G A SNP RNF113A ENST00000371442 human ensembl 74_37 -1 known missense c.88 p.R30C 0.903 NULL pfam_Znf_CCCH,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF113A HGNC ENSG00000125352 137 0 0 160 9 5.32544 CT47B1 0 genome.wustl.edu 37 X 120008858 120008858 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 120008858 120008858 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.667 p.A223T 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 138 0 0 144 10 6.49351 GLUD2 0 genome.wustl.edu 37 X 120181790 120181790 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 120181790 120181790 G C SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.252 p.K84N 1.000 NULL pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 122 0 0 104 6 5.45455 GLUD2 0 genome.wustl.edu 37 X 120182575 120182575 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 120182575 120182575 A C SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.1037 p.K346T 1.000 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 260 0 0 200 19 8.6758 THOC2 0 genome.wustl.edu 37 X 122830676 122830676 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 122830676 122830676 G A SNP THOC2 ENST00000433883 human ensembl 74_37 -1 known nonsense c.355 p.Q119* 1.000 NULL NULL - no_errors THOC2 HGNC ENSG00000125676 132 0 0 99 10 9.17431 TENM1 0 genome.wustl.edu 37 X 123631108 123631108 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 123631108 123631108 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.3453 p.I1151M 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 48 0 0 24 7 22.5806 TENM1 0 genome.wustl.edu 37 X 123663719 123663719 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 123663719 123663719 A G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.2766 p.D922 1.000 superfamily_CarboxyPept-like_regulatory pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 141 0 0 118 7 5.6 TENM1 0 genome.wustl.edu 37 X 124028174 124028174 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 124028174 124028174 T G SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.506 p.D169A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 99 0 0 75 6 7.40741 DCAF12L2 0 genome.wustl.edu 37 X 125298619 125298619 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 125298619 125298619 G A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1289 p.A430V 0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 159 0 0 153 15 8.92857 DCAF12L2 0 genome.wustl.edu 37 X 125299872 125299872 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 125299872 125299872 T G SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.36 p.K12N 0.986 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 31 0 0 28 4 12.5 DCAF12L1 0 genome.wustl.edu 37 X 125685932 125685932 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 125685932 125685932 C A SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.660 p.W220C 0.986 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 45 0 0 58 6 9.375 ACTRT1 0 genome.wustl.edu 37 X 127185200 127185200 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 127185200 127185200 T C SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.986 p.K329R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 123 0 0 112 8 6.66667 FRMPD4 0 genome.wustl.edu 37 X 12734369 12734369 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 12734369 12734369 A G SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.1791 p.I597M 0.037 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 125 0 0 109 8 6.83761 FRMPD4 0 genome.wustl.edu 37 X 12736059 12736059 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 12736059 12736059 A G SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known silent c.3114 p.A1038 0.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 93 0 0 94 9 8.73786 XPNPEP2 0 genome.wustl.edu 37 X 128877956 128877956 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 128877956 128877956 T C SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known missense c.143 p.V48A 0.998 NULL pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 169 0 0 117 34 22.5166 TLR7 0 genome.wustl.edu 37 X 12903718 12903718 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 12903718 12903718 C T SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known missense c.91 p.P31S 1.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 197 0 0 164 21 11.3514 UTP14A 0 genome.wustl.edu 37 X 129041389 129041389 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129041389 129041389 G C SNP UTP14A ENST00000394422 human ensembl 74_37 +1 known missense c.73 p.D25H 0.132 NULL pfam_SSU_processome_Utp14 - no_errors UTP14A HGNC ENSG00000156697 106 0 0 56 12 17.6471 TLR7 0 genome.wustl.edu 37 X 12904491 12904491 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 12904491 12904491 G A SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known silent c.864 p.A288 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 192 1 0.518135 133 24 15.2866 BCORL1 0 genome.wustl.edu 37 X 129147516 129147516 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129147516 129147516 G A SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known silent c.768 p.P256 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 155 0 0 165 15 8.33333 BCORL1 0 genome.wustl.edu 37 X 129159025 129159025 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129159025 129159025 T C SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.3749 p.F1250S 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 139 0 0 163 11 6.32184 BCORL1 0 genome.wustl.edu 37 X 129185849 129185849 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129185849 129185849 T G SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.4933 p.F1645V 0.414 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 243 0 0 220 16 6.77966 ZNF280C 0 genome.wustl.edu 37 X 129339307 129339307 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129339307 129339307 G A SNP ZNF280C ENST00000370978 human ensembl 74_37 -1 known missense c.2125 p.R709C 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 114 0 0 56 13 18.8406 ZNF280C 0 genome.wustl.edu 37 X 129362957 129362957 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129362957 129362957 A G SNP ZNF280C ENST00000370978 human ensembl 74_37 -1 known missense c.1141 p.F381L 1.000 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 170 0 0 137 14 9.27152 TLR8 0 genome.wustl.edu 37 X 12937960 12937960 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 12937960 12937960 C T SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known silent c.801 p.C267 0.025 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 133 0 0 99 8 7.47664 ENOX2 0 genome.wustl.edu 37 X 129804045 129804045 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129804045 129804045 C A SNP ENOX2 ENST00000338144 human ensembl 74_37 -1 known missense c.675 p.E225D 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 105 0 0 79 8 9.1954 IGSF1 0 genome.wustl.edu 37 X 130408638 130408638 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 130408638 130408638 C T SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known missense c.3701 p.R1234H 0.690 smart_Ig_sub,smart_Ig_sub2 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 240 0 0 206 12 5.50459 IGSF1 0 genome.wustl.edu 37 X 130416641 130416641 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 130416641 130416641 T C SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.1023 p.L341 0.049 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 104 0 0 88 10 10.2041 FRMD7 0 genome.wustl.edu 37 X 131211940 131211940 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 131211940 131211940 T A SNP FRMD7 ENST00000298542 human ensembl 74_37 -1 known missense c.2105 p.D702V 0.996 NULL pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD7 HGNC ENSG00000165694 109 0 0 82 6 6.81818 RAP2C 0 genome.wustl.edu 37 X 131348297 131348297 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 131348297 131348297 A T SNP RAP2C ENST00000342983 human ensembl 74_37 -1 known missense c.451 p.S151T 1.000 pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAP2C HGNC ENSG00000123728 157 0 0 137 17 11.039 HS6ST2 0 genome.wustl.edu 37 X 132091164 132091164 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 132091164 132091164 G A SNP HS6ST2 ENST00000521489 human ensembl 74_37 -1 known missense c.619 p.R207C 0.968 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 56 0 0 41 15 26.7857 USP26 0 genome.wustl.edu 37 X 132160099 132160099 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 132160099 132160099 G A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.2150 p.T717I 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 153 0 0 118 14 10.6061 USP26 0 genome.wustl.edu 37 X 132161101 132161101 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 132161101 132161101 G A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.1148 p.A383V 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 181 0 0 131 9 6.42857 ATXN3L 0 genome.wustl.edu 37 X 13337200 13337200 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 13337200 13337200 T A SNP ATXN3L ENST00000380622 human ensembl 74_37 -1 known missense c.854 p.D285V 0.982 prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif - no_errors ATXN3L HGNC ENSG00000123594 317 0 0 256 23 8.24373 ATXN3L 0 genome.wustl.edu 37 X 13337424 13337424 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 13337424 13337424 T C SNP ATXN3L ENST00000380622 human ensembl 74_37 -1 known silent c.630 p.E210 0.002 prints_Josephin pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,prints_Josephin,pfscan_Josephin,pfscan_Ubiquitin-int_motif - no_errors ATXN3L HGNC ENSG00000123594 392 0 0 323 27 7.71429 MIR450A2 0 genome.wustl.edu 37 X 133674582 133674582 + RNA SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 133674582 133674582 C G SNP MIR450A2 ENST00000385022 human ensembl 74_37 -1 known rna NULL NULL 0.697 - - - no_errors MIR450A2 HGNC ENSG00000207755 125 0 0 81 5 5.81395 FAM127C 0 genome.wustl.edu 37 X 134156176 134156176 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 134156176 134156176 A G SNP FAM127C ENST00000391440 human ensembl 74_37 -1 known missense c.314 p.F105S 0.993 NULL NULL - no_errors FAM127C HGNC ENSG00000212747 50 0 0 58 5 7.93651 FAM127B 0 genome.wustl.edu 37 X 134186058 134186058 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 134186058 134186058 A G SNP FAM127B ENST00000370775 human ensembl 74_37 -1 known silent c.81 p.I27 0.792 NULL NULL - no_errors FAM127B HGNC ENSG00000203950 127 0 0 124 9 6.76692 ZNF75D 0 genome.wustl.edu 37 X 134426266 134426266 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 134426266 134426266 A G SNP ZNF75D ENST00000370766 human ensembl 74_37 -1 known missense c.545 p.V182A 0.058 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF75D HGNC ENSG00000186376 127 0 0 104 14 11.8644 DDX26B 0 genome.wustl.edu 37 X 134680680 134680680 + Silent SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 134680680 134680680 T A SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known silent c.483 p.P161 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 229 0 0 158 16 9.1954 SAGE1 0 genome.wustl.edu 37 X 134988582 134988582 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 134988582 134988582 C T SNP SAGE1 ENST00000324447 human ensembl 74_37 +1 known missense c.608 p.T203I 0.026 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 179 0 0 163 9 5.23256 MMGT1 0 genome.wustl.edu 37 X 135047292 135047292 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135047292 135047292 C T SNP MMGT1 ENST00000433339 human ensembl 74_37 -1 known missense c.482 p.R161H 1.000 pfam_Magnesium_transport pfam_Magnesium_transport - no_errors MMGT1 HGNC ENSG00000169446 290 0 0 168 59 25.9912 MAP7D3 0 genome.wustl.edu 37 X 135308164 135308164 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135308164 135308164 G A SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known silent c.1989 p.D663 0.000 pfam_MAP7 pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 137 1 0.724638 71 17 19.3182 GPR112 0 genome.wustl.edu 37 X 135405392 135405392 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135405392 135405392 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.526 p.R176C 0.001 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 195 0 0 159 21 11.6667 GPR112 0 genome.wustl.edu 37 X 135427956 135427956 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135427956 135427956 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.2091 p.S697 0.017 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 129 0 0 93 19 16.9643 GPR112 0 genome.wustl.edu 37 X 135429100 135429100 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135429100 135429100 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.3235 p.P1079S 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 382 0 0 292 25 7.88644 GPR112 0 genome.wustl.edu 37 X 135430773 135430773 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135430773 135430773 A G SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known silent c.4908 p.A1636 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 255 2 0.77821 206 22 9.64912 GPR112 0 genome.wustl.edu 37 X 135482127 135482127 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135482127 135482127 T A SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known nonsense c.8427 p.C2809* 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 180 0 0 131 13 9.02778 HTATSF1 0 genome.wustl.edu 37 X 135593206 135593206 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135593206 135593206 A T SNP HTATSF1 ENST00000218364 human ensembl 74_37 +1 known silent c.1302 p.T434 0.008 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 287 0 0 206 21 9.2511 VGLL1 0 genome.wustl.edu 37 X 135631112 135631112 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135631112 135631112 C T SNP VGLL1 ENST00000370634 human ensembl 74_37 +1 known silent c.579 p.G193 0.000 NULL pfam_Vg_Tdu,smart_TDU_repeat - no_errors VGLL1 HGNC ENSG00000102243 98 0 0 98 7 6.66667 CD40LG 0 genome.wustl.edu 37 X 135732555 135732555 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 135732555 135732555 A G SNP CD40LG ENST00000370629 human ensembl 74_37 +1 known missense c.287 p.K96R 0.998 pirsf_TNF_ligand_5 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pirsf_TNF_ligand_5,pfscan_TNF_dom,prints_TNF_ligand_5 - no_errors CD40LG HGNC ENSG00000102245 109 0 0 68 5 6.84932 EGFL6 0 genome.wustl.edu 37 X 13624572 13624572 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 13624572 13624572 T C SNP EGFL6 ENST00000380602 human ensembl 74_37 +1 known missense c.595 p.Y199H 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 185 0 0 134 17 11.2583 EGFL6 0 genome.wustl.edu 37 X 13645222 13645222 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 13645222 13645222 A C SNP EGFL6 ENST00000380602 human ensembl 74_37 +1 known missense c.1381 p.S461R 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 166 0 0 97 29 23.0159 ZIC3 0 genome.wustl.edu 37 X 136651095 136651095 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 136651095 136651095 T C SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known silent c.1095 p.C365 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 303 0 0 262 17 6.09319 OFD1 0 genome.wustl.edu 37 X 13753379 13753379 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 13753379 13753379 A G SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.25 p.T9A 0.000 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 83 0 0 64 6 8.57143 MCF2 0 genome.wustl.edu 37 X 138697061 138697061 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 138697061 138697061 G A SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known missense c.1777 p.P593S 0.293 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 254 0 0 202 16 7.33945 MCF2 0 genome.wustl.edu 37 X 138713569 138713569 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 138713569 138713569 C T SNP MCF2 ENST00000370578 human ensembl 74_37 -1 known nonsense c.708 p.W236* 1.000 superfamily_CRAL-TRIO_dom pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors MCF2 HGNC ENSG00000101977 236 0 0 166 13 7.26257 ATP11C 0 genome.wustl.edu 37 X 138840023 138840023 + Missense_Mutation SNP G G C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 138840023 138840023 G C SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.2653 p.L885V 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 42 0 0 25 5 16.6667 ATP11C 0 genome.wustl.edu 37 X 138840024 138840024 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 138840024 138840024 G T SNP ATP11C ENST00000327569 human ensembl 74_37 -1 known missense c.2652 p.N884K 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 42 0 0 25 4 13.7931 CXorf66 0 genome.wustl.edu 37 X 139038105 139038105 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 139038105 139038105 A G SNP CXorf66 ENST00000370540 human ensembl 74_37 -1 known missense c.1036 p.C346R 0.050 NULL NULL - no_errors CXorf66 HGNC ENSG00000203933 99 0 0 89 7 7.29167 SOX3 0 genome.wustl.edu 37 X 139586639 139586639 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 139586639 139586639 C T SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known missense c.587 p.R196H 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 76 0 0 64 22 25.5814 SPANXD 0 genome.wustl.edu 37 X 140785771 140785771 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 140785771 140785771 T A SNP SPANXD ENST00000370515 human ensembl 74_37 -1 known missense c.145 p.T49S 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXD HGNC ENSG00000196406 331 0 0 266 21 7.31707 MAGEC3 0 genome.wustl.edu 37 X 140969268 140969268 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 140969268 140969268 T C SNP MAGEC3 ENST00000298296 human ensembl 74_37 +1 known missense c.595 p.Y199H 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 214 0 0 166 13 7.26257 MAGEC1 0 genome.wustl.edu 37 X 140995836 140995836 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 140995836 140995836 A G SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2646 p.S882 0.009 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 355 0 0 220 42 16.0305 CSF2RA 0 genome.wustl.edu 37 X 1428459 1428459 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1428459 1428459 A G SNP CSF2RA ENST00000355432 human ensembl 74_37 +1 known missense c.1111 p.I371V 0.012 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 124 0 0 102 16 13.5593 UBE2NL 0 genome.wustl.edu 37 X 142967329 142967329 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 142967329 142967329 T A SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.127 p.S43T 0.994 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 200 0 0 163 10 5.78035 MIR513B 0 genome.wustl.edu 37 X 146280611 146280611 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 146280611 146280611 A G SNP MIR513B ENST00000385136 human ensembl 74_37 -1 known rna NULL NULL 0.509 - - - no_errors MIR513B HGNC ENSG00000207871 38 0 0 26 4 13.3333 MIR506 0 genome.wustl.edu 37 X 146312238 146312238 + RNA SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 146312238 146312238 G A SNP MIR506 ENST00000384998 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR506 HGNC ENSG00000207731 151 0 0 114 9 7.31707 FMR1 0 genome.wustl.edu 37 X 147027084 147027084 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 147027084 147027084 G A SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known missense c.1685 p.R562H 1.000 pfam_Frag_X_MRP_fam pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 49 0 0 36 5 12.1951 IL3RA 0 genome.wustl.edu 37 X 1471268 1471268 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1471268 1471268 G A SNP IL3RA ENST00000331035 human ensembl 74_37 +1 known missense c.485 p.R162H 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 237 1 0.420168 238 30 11.194 AFF2 0 genome.wustl.edu 37 X 148037982 148037982 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 148037982 148037982 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2407 p.V803M 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 159 0 0 136 10 6.84932 AFF2 0 genome.wustl.edu 37 X 148068943 148068943 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 148068943 148068943 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3670 p.A1224T 0.265 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 149 0 0 138 8 5.47945 AFF2 0 genome.wustl.edu 37 X 148072815 148072815 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 148072815 148072815 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.3889 p.V1297I 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 181 0 0 129 38 22.7545 FANCB 0 genome.wustl.edu 37 X 14871245 14871245 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 14871245 14871245 A C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known silent c.1242 p.L414 0.817 NULL NULL - no_errors FANCB HGNC ENSG00000181544 142 0 0 86 6 6.52174 MAGEA11 0 genome.wustl.edu 37 X 148797265 148797265 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 148797265 148797265 T G SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known missense c.194 p.V65G 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 101 0 0 71 10 12.3457 MAMLD1 0 genome.wustl.edu 37 X 149638867 149638867 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 149638867 149638867 G T SNP MAMLD1 ENST00000432680 human ensembl 74_37 +1 known missense c.947 p.R316L 0.016 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 51 0 0 51 8 13.5593 MAMLD1 0 genome.wustl.edu 37 X 149671696 149671696 + Nonsense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 149671696 149671696 C A SNP MAMLD1 ENST00000262858 human ensembl 74_37 +1 known nonsense c.2193 p.Y731* 1.000 NULL NULL - no_errors MAMLD1 HGNC ENSG00000013619 37 0 0 55 4 6.77966 MTM1 0 genome.wustl.edu 37 X 149814303 149814303 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 149814303 149814303 A G SNP MTM1 ENST00000370396 human ensembl 74_37 +1 known missense c.826 p.I276V 0.999 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors MTM1 HGNC ENSG00000171100 110 0 0 67 8 10.6667 SLC25A6 0 genome.wustl.edu 37 X 1505571 1505571 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1505571 1505571 G A SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known missense c.821 p.A274V 0.999 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 196 0 0 197 23 10.4545 SLC25A6 0 genome.wustl.edu 37 X 1508486 1508486 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1508486 1508486 G T SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known missense c.246 p.F82L 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 229 0 0 207 22 9.60699 CNGA2 0 genome.wustl.edu 37 X 150907014 150907014 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 150907014 150907014 C T SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.59 p.A20V 0.362 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 135 0 0 114 9 7.31707 CNGA2 0 genome.wustl.edu 37 X 150911846 150911846 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 150911846 150911846 T C SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.871 p.C291R 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 254 0 0 224 16 6.66667 MAGEA4 0 genome.wustl.edu 37 X 151092384 151092384 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 151092384 151092384 A G SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.248 p.Q83R 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 113 0 0 112 8 6.66667 MAGEA10 0 genome.wustl.edu 37 X 151303862 151303862 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 151303862 151303862 A G SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known silent c.231 p.D77 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 237 0 0 201 14 6.51163 GABRA3 0 genome.wustl.edu 37 X 151366166 151366166 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 151366166 151366166 G A SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known silent c.870 p.V290 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 87 0 0 66 7 9.58904 MAGEA12 0 genome.wustl.edu 37 X 151900642 151900642 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 151900642 151900642 C A SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known silent c.159 p.V53 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 114 0 0 120 9 6.97674 CETN2 0 genome.wustl.edu 37 X 151997191 151997191 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 151997191 151997191 G T SNP CETN2 ENST00000370277 human ensembl 74_37 -1 known missense c.319 p.L107M 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN2 HGNC ENSG00000147400 84 0 0 71 10 12.3457 NSDHL 0 genome.wustl.edu 37 X 152018925 152018925 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152018925 152018925 T A SNP NSDHL ENST00000370274 human ensembl 74_37 +1 known missense c.225 p.N75K 0.003 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_NmrA pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA - no_errors NSDHL HGNC ENSG00000147383 286 0 0 253 18 6.64207 ZNF185 0 genome.wustl.edu 37 X 152128250 152128250 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152128250 152128250 A T SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known missense c.1510 p.T504S 0.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 35 0 0 42 5 10.6383 ASMTL 0 genome.wustl.edu 37 X 1522303 1522303 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1522303 1522303 G A SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known silent c.1725 p.N575 1.000 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 93 0 0 102 18 15 ATP2B3 0 genome.wustl.edu 37 X 152814246 152814246 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152814246 152814246 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.1272 p.V424 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 81 0 0 86 6 6.52174 ATP2B3 0 genome.wustl.edu 37 X 152821585 152821585 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152821585 152821585 C T SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known missense c.2137 p.R713W 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 112 0 0 108 10 8.47458 ATP2B3 0 genome.wustl.edu 37 X 152835151 152835151 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152835151 152835151 A C SNP ATP2B3 ENST00000359149 human ensembl 74_37 +1 known missense c.3433 p.T1145P 1.000 pfam_ATP_Ca_trans_C pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,pfam_ATP_Ca_trans_C,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 257 1 0.387597 207 19 8.40708 SLC6A8 0 genome.wustl.edu 37 X 152958731 152958731 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152958731 152958731 C T SNP SLC6A8 ENST00000253122 human ensembl 74_37 +1 known missense c.926 p.A309V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine - no_errors SLC6A8 HGNC ENSG00000130821 68 0 0 68 5 6.84932 ABCD1 0 genome.wustl.edu 37 X 152991452 152991452 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152991452 152991452 C T SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.731 p.S244L 0.952 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 35 0 0 36 7 16.2791 PLXNB3 0 genome.wustl.edu 37 X 153037095 153037095 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153037095 153037095 G A SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known silent c.2571 p.A857 0.000 superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,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 PLXNB3 HGNC ENSG00000198753 27 0 0 31 3 8.82353 ASB11 0 genome.wustl.edu 37 X 15306011 15306011 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 15306011 15306011 A G SNP ASB11 ENST00000480796 human ensembl 74_37 -1 known missense c.839 p.L280P 0.994 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C 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 ASB11 HGNC ENSG00000165192 56 0 0 48 4 7.69231 PDZD4 0 genome.wustl.edu 37 X 153095697 153095697 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153095697 153095697 C T SNP PDZD4 ENST00000164640 human ensembl 74_37 -1 known silent c.57 p.L19 0.980 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 58 0 0 63 6 8.69565 L1CAM 0 genome.wustl.edu 37 X 153132191 153132191 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153132191 153132191 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.2350 p.V784M 0.976 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 L1CAM HGNC ENSG00000198910 94 0 0 84 21 20 L1CAM 0 genome.wustl.edu 37 X 153133891 153133891 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153133891 153133891 C T SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.1575 p.G525 0.889 pfam_Ig_I-set,pfscan_Ig-like_dom 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 L1CAM HGNC ENSG00000198910 161 0 0 160 39 19.598 L1CAM 0 genome.wustl.edu 37 X 153136295 153136295 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153136295 153136295 C A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.650 p.G217V 0.804 smart_Ig_sub,pfscan_Ig-like_dom 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 L1CAM HGNC ENSG00000198910 95 0 0 87 6 6.45161 AVPR2 0 genome.wustl.edu 37 X 153171085 153171085 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153171085 153171085 C T SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.125 p.A42V 1.000 prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 23 0 0 36 5 12.1951 AVPR2 0 genome.wustl.edu 37 X 153171979 153171979 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153171979 153171979 G A SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.913 p.A305T 0.372 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_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 206 0 0 133 46 25.6983 RENBP 0 genome.wustl.edu 37 X 153209857 153209857 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153209857 153209857 T G SNP RENBP ENST00000393700 human ensembl 74_37 -1 known missense c.41 p.E14A 0.820 NULL pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like - no_errors RENBP HGNC ENSG00000102032 95 0 0 73 20 21.5054 MECP2 0 genome.wustl.edu 37 X 153295906 153295906 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153295906 153295906 C T SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.1373 p.R458H 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 400 0 0 317 78 19.7468 MECP2 0 genome.wustl.edu 37 X 153298000 153298000 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153298000 153298000 T C SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known missense c.35 p.K12R 1.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 141 0 0 108 13 10.7438 TKTL1 0 genome.wustl.edu 37 X 153533696 153533696 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153533696 153533696 G A SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.175 p.V59M 1.000 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 104 0 0 73 6 7.59494 FLNA 0 genome.wustl.edu 37 X 153579955 153579955 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153579955 153579955 G A SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.7017 p.S2339 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 FLNA HGNC ENSG00000196924 49 0 0 33 15 31.25 RPL10 0 genome.wustl.edu 37 X 153626864 153626864 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153626864 153626864 G A SNP RPL10 ENST00000344746 human ensembl 74_37 +1 known missense c.4 p.G2S 1.000 pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC ENSG00000147403 339 0 0 319 26 7.53623 PLXNA3 0 genome.wustl.edu 37 X 153696426 153696426 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153696426 153696426 T C SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known silent c.3822 p.A1274 0.297 NULL 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 PLXNA3 HGNC ENSG00000130827 47 0 0 61 4 6.15385 PLXNA3 0 genome.wustl.edu 37 X 153699468 153699468 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153699468 153699468 T C SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.5177 p.V1726A 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 108 0 0 94 18 16.0714 SLC10A3 0 genome.wustl.edu 37 X 153717218 153717218 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153717218 153717218 C T SNP SLC10A3 ENST00000263512 human ensembl 74_37 -1 known missense c.62 p.G21D 0.000 NULL pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A3 HGNC ENSG00000126903 25 0 0 21 8 27.5862 GAB3 0 genome.wustl.edu 37 X 153940895 153940895 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153940895 153940895 G A SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known silent c.678 p.C226 0.302 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 90 0 0 74 9 10.8434 GAB3 0 genome.wustl.edu 37 X 153941521 153941521 + Missense_Mutation SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153941521 153941521 A C SNP GAB3 ENST00000424127 human ensembl 74_37 -1 known missense c.557 p.V186G 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 157 0 0 144 11 7.09677 MPP1 0 genome.wustl.edu 37 X 154009926 154009926 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 154009926 154009926 C T SNP MPP1 ENST00000369534 human ensembl 74_37 -1 known silent c.1098 p.V366 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP1 HGNC ENSG00000130830 244 0 0 242 23 8.67925 ASMTL 0 genome.wustl.edu 37 X 1540734 1540734 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1540734 1540734 A G SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known silent c.1062 p.G354 0.990 pfam_O_MeTrfase_2 pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 309 0 0 301 33 9.88024 F8 0 genome.wustl.edu 37 X 154130417 154130417 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 154130417 154130417 T C SNP F8 ENST00000360256 human ensembl 74_37 -1 known silent c.6024 p.L2008 0.938 pfam_Cu-oxidase_2,superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 127 0 0 94 13 12.1495 F8 0 genome.wustl.edu 37 X 154158736 154158736 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 154158736 154158736 T G SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.3329 p.N1110T 0.002 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 119 0 0 94 10 9.61538 VBP1 0 genome.wustl.edu 37 X 154448586 154448586 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 154448586 154448586 T C SNP VBP1 ENST00000286428 human ensembl 74_37 +1 known splice_site c.218+2 e2+2 1.000 - - - no_errors VBP1 HGNC ENSG00000155959 54 0 0 37 5 11.9048 TMLHE 0 genome.wustl.edu 37 X 154741379 154741379 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 154741379 154741379 G A SNP TMLHE ENST00000334398 human ensembl 74_37 -1 known missense c.713 p.A238V 1.000 pfam_Taurine_dOase,tigrfam_Trimethyllysine_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase - no_errors TMLHE HGNC ENSG00000185973 148 0 0 126 31 19.7452 BMX 0 genome.wustl.edu 37 X 15540632 15540632 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 15540632 15540632 G A SNP BMX ENST00000342014 human ensembl 74_37 +1 known missense c.674 p.G225D 0.076 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 104 0 0 97 13 11.8182 BMX 0 genome.wustl.edu 37 X 15560311 15560311 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 15560311 15560311 A G SNP BMX ENST00000342014 human ensembl 74_37 +1 known missense c.1601 p.H534R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_Znf_Btk_motif - no_errors BMX HGNC ENSG00000102010 209 0 0 155 11 6.62651 P2RY8 0 genome.wustl.edu 37 X 1584391 1584391 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1584391 1584391 C A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.1061 p.R354M 0.977 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 95 0 0 91 7 7.14286 P2RY8 0 genome.wustl.edu 37 X 1585104 1585104 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1585104 1585104 A G SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known silent c.348 p.C116 0.980 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 26 0 0 26 4 13.3333 GRPR 0 genome.wustl.edu 37 X 16168543 16168543 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 16168543 16168543 G A SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.529 p.V177M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 158 0 0 107 36 25.1748 TXLNG 0 genome.wustl.edu 37 X 16846369 16846369 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 16846369 16846369 T C SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known silent c.651 p.R217 0.973 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 78 0 0 52 5 8.77193 TXLNG 0 genome.wustl.edu 37 X 16857989 16857989 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 16857989 16857989 C T SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known missense c.1198 p.R400C 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 139 0 0 89 21 19.0909 AKAP17A 0 genome.wustl.edu 37 X 1712482 1712482 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1712482 1712482 G A SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.127 p.G43R 1.000 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 128 0 0 131 18 12.0805 REPS2 0 genome.wustl.edu 37 X 17156996 17156996 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 17156996 17156996 A G SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known missense c.1826 p.K609R 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 41 0 0 40 9 18.3673 ASMT 0 genome.wustl.edu 37 X 1748790 1748790 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1748790 1748790 G A SNP ASMT ENST00000381241 human ensembl 74_37 +1 known missense c.520 p.A174T 1.000 pfam_O_MeTrfase_2,pirsf_COMT pfam_O_MeTrfase_2,pirsf_COMT - no_errors ASMT HGNC ENSG00000196433 185 1 0.537634 162 39 19.403 NHS 0 genome.wustl.edu 37 X 17742447 17742447 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 17742447 17742447 A G SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.1074 p.I358M 0.986 NULL NULL - no_errors NHS HGNC ENSG00000188158 144 0 0 102 6 5.55556 SCML1 0 genome.wustl.edu 37 X 17768146 17768146 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 17768146 17768146 C T SNP SCML1 ENST00000380041 human ensembl 74_37 +1 known missense c.436 p.R146C 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SCML1 HGNC ENSG00000047634 164 0 0 156 16 9.30233 BEND2 0 genome.wustl.edu 37 X 18213471 18213471 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18213471 18213471 T C SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known silent c.1125 p.G375 0.009 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 120 0 0 100 9 8.25688 SCML2 0 genome.wustl.edu 37 X 18260691 18260691 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18260691 18260691 T C SNP SCML2 ENST00000251900 human ensembl 74_37 -1 known silent c.1842 p.V614 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 107 0 0 79 19 19.3878 SCML2 0 genome.wustl.edu 37 X 18264789 18264789 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18264789 18264789 A G SNP SCML2 ENST00000251900 human ensembl 74_37 -1 known missense c.1730 p.V577A 0.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 125 0 0 112 7 5.88235 CDKL5 0 genome.wustl.edu 37 X 18646626 18646626 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18646626 18646626 C T SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.2632 p.P878S 0.999 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 CDKL5 HGNC ENSG00000008086 203 0 0 199 19 8.7156 PPEF1 0 genome.wustl.edu 37 X 18836180 18836180 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18836180 18836180 C A SNP PPEF1 ENST00000361511 human ensembl 74_37 +1 known missense c.1418 p.A473D 0.999 pirsf_Ser/Thr-Pase_EF-hand_contain pfam_PEstase_dom,pfam_EF_hand_dom,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_hand_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 121 0 0 92 6 6.12245 PHKA2 0 genome.wustl.edu 37 X 18912463 18912463 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18912463 18912463 C T SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known silent c.3396 p.P1132 0.029 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 78 0 0 59 7 10.6061 PHKA2 0 genome.wustl.edu 37 X 18961916 18961916 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18961916 18961916 T C SNP PHKA2 ENST00000379942 human ensembl 74_37 -1 known missense c.629 p.E210G 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC ENSG00000044446 136 0 0 139 9 6.08108 MAP3K15 0 genome.wustl.edu 37 X 19413307 19413307 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 19413307 19413307 C T SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known missense c.2086 p.E696K 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,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K15 HGNC ENSG00000180815 158 0 0 152 14 8.43373 PLCXD1 0 genome.wustl.edu 37 X 209792 209792 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 209792 209792 C T SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known silent c.640 p.L214 0.992 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD1 HGNC ENSG00000182378 67 0 0 58 11 15.942 DHRSX 0 genome.wustl.edu 37 X 2161159 2161159 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 2161159 2161159 C T SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known missense c.709 p.V237M 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 57 0 0 62 16 20.5128 KLHL34 0 genome.wustl.edu 37 X 21675116 21675116 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 21675116 21675116 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.791 p.R264H 0.851 pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 39 0 0 27 13 32.5 KLHL34 0 genome.wustl.edu 37 X 21675792 21675792 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 21675792 21675792 C T SNP KLHL34 ENST00000379499 human ensembl 74_37 -1 known missense c.115 p.E39K 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL34 HGNC ENSG00000185915 34 0 0 35 13 27.0833 SMS 0 genome.wustl.edu 37 X 21985316 21985316 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 21985316 21985316 G A SNP SMS ENST00000404933 human ensembl 74_37 +1 known missense c.52 p.D18N 1.000 NULL pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase - no_errors SMS HGNC ENSG00000102172 69 0 0 50 8 13.7931 SMS 0 genome.wustl.edu 37 X 22012435 22012435 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 22012435 22012435 T C SNP SMS ENST00000404933 human ensembl 74_37 +1 known missense c.1067 p.V356A 1.000 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase - no_errors SMS HGNC ENSG00000102172 97 0 0 85 8 8.60215 ZNF645 0 genome.wustl.edu 37 X 22291585 22291585 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 22291585 22291585 G A SNP ZNF645 ENST00000323684 human ensembl 74_37 +1 known silent c.477 p.P159 0.000 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ENSG00000175809 149 0 0 101 36 26.2774 DDX53 0 genome.wustl.edu 37 X 23018527 23018527 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 23018527 23018527 G A SNP DDX53 ENST00000327968 human ensembl 74_37 +1 known missense c.353 p.S118N 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX53 HGNC ENSG00000184735 151 0 0 105 10 8.69565 APOO 0 genome.wustl.edu 37 X 23876803 23876803 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 23876803 23876803 C T SNP APOO ENST00000379226 human ensembl 74_37 -1 known missense c.436 p.A146T 0.887 pfam_Apolipoprotein_O pfam_Apolipoprotein_O - no_errors APOO HGNC ENSG00000184831 109 0 0 87 7 7.44681 CXorf58 0 genome.wustl.edu 37 X 23933870 23933870 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 23933870 23933870 G T SNP CXorf58 ENST00000379211 human ensembl 74_37 +1 known missense c.270 p.K90N 0.018 NULL NULL - no_errors CXorf58 HGNC ENSG00000165182 86 0 0 61 4 6.15385 KLHL15 0 genome.wustl.edu 37 X 24006408 24006408 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 24006408 24006408 T G SNP KLHL15 ENST00000328046 human ensembl 74_37 -1 known missense c.1445 p.K482T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL15 HGNC ENSG00000174010 137 0 0 124 21 14.4828 ZBED1 0 genome.wustl.edu 37 X 2408217 2408217 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 2408217 2408217 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.544 p.E182K 0.973 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 172 0 0 190 16 7.76699 ZBED1 0 genome.wustl.edu 37 X 2408366 2408366 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 2408366 2408366 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.395 p.G132D 0.059 NULL pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 63 0 0 58 7 10.7692 POLA1 0 genome.wustl.edu 37 X 24759545 24759545 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 24759545 24759545 T C SNP POLA1 ENST00000379068 human ensembl 74_37 +1 known missense c.2270 p.F757S 1.000 superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC ENSG00000101868 125 0 0 75 5 6.25 DCAF8L2 0 genome.wustl.edu 37 X 27765794 27765794 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 27765794 27765794 G T SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known missense c.782 p.R261M 0.000 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 - no_errors DCAF8L2 HGNC ENSG00000189186 33 0 0 30 5 14.2857 MAGEB10 0 genome.wustl.edu 37 X 27840426 27840426 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 27840426 27840426 C T SNP MAGEB10 ENST00000356790 human ensembl 74_37 +1 known missense c.1003 p.R335C 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB10 HGNC ENSG00000177689 51 0 0 44 5 10.2041 ARSE 0 genome.wustl.edu 37 X 2856150 2856150 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 2856150 2856150 C T SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.1350 p.E450 0.001 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 130 0 0 128 12 8.57143 ARSE 0 genome.wustl.edu 37 X 2861128 2861128 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 2861128 2861128 A T SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.1179 p.G393 0.044 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 166 0 0 137 11 7.43243 PPP2R3B 0 genome.wustl.edu 37 X 302119 302119 + Silent SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 302119 302119 C G SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.1098 p.V366 0.966 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 251 0 0 232 16 6.45161 MAGEB3 0 genome.wustl.edu 37 X 30254423 30254423 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 30254423 30254423 A T SNP MAGEB3 ENST00000361644 human ensembl 74_37 +1 known missense c.382 p.M128L 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 71 0 0 61 4 6.15385 NR0B1 0 genome.wustl.edu 37 X 30327194 30327194 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 30327194 30327194 G A SNP NR0B1 ENST00000378970 human ensembl 74_37 -1 known missense c.287 p.A96V 0.004 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 53 0 0 45 10 18.1818 PPP2R3B 0 genome.wustl.edu 37 X 306303 306303 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 306303 306303 C T SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known silent c.984 p.T328 0.901 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 97 0 0 88 27 23.4783 GK 0 genome.wustl.edu 37 X 30686200 30686200 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 30686200 30686200 T C SNP GK ENST00000378943 human ensembl 74_37 +1 known missense c.224 p.L75P 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK HGNC ENSG00000198814 90 0 0 48 15 23.8095 TAB3 0 genome.wustl.edu 37 X 30849565 30849565 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 30849565 30849565 G A SNP TAB3 ENST00000288422 human ensembl 74_37 -1 known silent c.2118 p.C706 0.208 pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB3 HGNC ENSG00000157625 50 0 0 41 4 8.88889 DMD 0 genome.wustl.edu 37 X 31165402 31165402 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 31165402 31165402 A G SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.10787 p.L3596P 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 139 0 0 91 26 22.2222 DMD 0 genome.wustl.edu 37 X 31196845 31196845 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 31196845 31196845 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.10164 p.K3388 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 151 0 0 164 10 5.74713 MXRA5 0 genome.wustl.edu 37 X 3229042 3229042 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 3229042 3229042 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.7202 p.G2401D 0.997 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 112 0 0 98 13 11.7117 MXRA5 0 genome.wustl.edu 37 X 3239357 3239357 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 3239357 3239357 T C SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.4369 p.T1457A 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 93 0 0 90 5 5.26316 DMD 0 genome.wustl.edu 37 X 32398784 32398784 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 32398784 32398784 T A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4688 p.K1563M 1.000 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 115 0 0 87 10 10.3093 MXRA5 0 genome.wustl.edu 37 X 3239946 3239946 + Silent SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 3239946 3239946 A T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.3780 p.S1260 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 223 0 0 154 45 22.6131 MXRA5 0 genome.wustl.edu 37 X 3240584 3240584 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 3240584 3240584 G T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.3142 p.L1048I 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 162 0 0 147 19 11.4458 DMD 0 genome.wustl.edu 37 X 32536157 32536157 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 32536157 32536157 C A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2260 p.G754C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 91 0 0 57 6 9.52381 FAM47A 0 genome.wustl.edu 37 X 34148408 34148408 + Missense_Mutation SNP T T G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 34148408 34148408 T G SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1988 p.K663T 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 151 0 0 114 13 10.2362 FAM47A 0 genome.wustl.edu 37 X 34148797 34148797 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 34148797 34148797 C A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1599 p.E533D 0.004 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 105 1 0.943396 106 6 5.35714 FAM47B 0 genome.wustl.edu 37 X 34962797 34962797 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 34962797 34962797 A G SNP FAM47B ENST00000329357 human ensembl 74_37 +1 known missense c.1849 p.T617A 0.023 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 236 0 0 205 16 7.23982 CXorf22 0 genome.wustl.edu 37 X 35944204 35944204 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 35944204 35944204 A T SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.320 p.Y107F 0.999 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 75 0 0 54 7 11.4754 CXorf22 0 genome.wustl.edu 37 X 35959399 35959399 + Splice_Site SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 35959399 35959399 G T SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known splice_site c.402-1 e3-1 0.998 - - - no_errors CXorf22 HGNC ENSG00000165164 92 0 0 79 6 7.05882 CXorf22 0 genome.wustl.edu 37 X 35966531 35966531 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 35966531 35966531 C A SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.618 p.F206L 1.000 superfamily_PapD-like superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 109 0 0 89 14 13.5922 CXorf22 0 genome.wustl.edu 37 X 35969365 35969365 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 35969365 35969365 T C SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known silent c.774 p.G258 0.264 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 80 0 0 53 3 5.35714 LANCL3 0 genome.wustl.edu 37 X 37431373 37431373 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 37431373 37431373 C T SNP LANCL3 ENST00000378619 human ensembl 74_37 +1 known missense c.250 p.L84F 1.000 pfam_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC ENSG00000147036 15 0 0 16 3 15.7895 CYBB 0 genome.wustl.edu 37 X 37658288 37658288 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 37658288 37658288 G A SNP CYBB ENST00000378588 human ensembl 74_37 +1 known missense c.755 p.G252E 1.000 NULL pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors CYBB HGNC ENSG00000165168 60 0 0 46 6 11.5385 CXorf27 0 genome.wustl.edu 37 X 37850184 37850184 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 37850184 37850184 T C SNP CXorf27 ENST00000341016 human ensembl 74_37 +1 known missense c.92 p.F31S 0.000 superfamily_Histone-fold superfamily_Histone-fold - no_errors CXorf27 HGNC ENSG00000187516 44 0 0 41 6 12.766 OTC 0 genome.wustl.edu 37 X 38240679 38240679 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 38240679 38240679 C T SNP OTC ENST00000039007 human ensembl 74_37 +1 known missense c.383 p.A128V 0.698 pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,tigrfam_Orn/put_carbamltrans pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf,tigrfam_Orn/put_carbamltrans - no_errors OTC HGNC ENSG00000036473 72 0 0 42 5 10.6383 BCOR 0 genome.wustl.edu 37 X 39931992 39931992 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 39931992 39931992 A G SNP BCOR ENST00000378444 human ensembl 74_37 -1 known silent c.2607 p.Y869 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 77 0 0 93 7 7 ATP6AP2 0 genome.wustl.edu 37 X 40448348 40448348 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 40448348 40448348 A G SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known missense c.148 p.M50V 1.000 NULL pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 87 0 0 55 11 16.6667 ATP6AP2 0 genome.wustl.edu 37 X 40456806 40456806 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 40456806 40456806 T C SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known missense c.424 p.S142P 0.997 NULL pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ENSG00000182220 129 0 0 105 10 8.69565 MED14 0 genome.wustl.edu 37 X 40571544 40571544 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 40571544 40571544 A G SNP MED14 ENST00000324817 human ensembl 74_37 -1 known silent c.783 p.D261 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 207 1 0.480769 160 9 5.32544 DDX3X 0 genome.wustl.edu 37 X 41205775 41205775 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 41205775 41205775 G A SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known silent c.1515 p.L505 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX3X HGNC ENSG00000215301 159 1 0.625 92 14 13.2075 GPR82 0 genome.wustl.edu 37 X 41586602 41586602 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 41586602 41586602 T C SNP GPR82 ENST00000302548 human ensembl 74_37 +1 known missense c.323 p.L108S 0.358 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR82 HGNC ENSG00000171657 113 0 0 82 9 9.89011 MAOB 0 genome.wustl.edu 37 X 43662605 43662605 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 43662605 43662605 G T SNP MAOB ENST00000378069 human ensembl 74_37 -1 known missense c.326 p.P109Q 1.000 pfam_Amino_oxidase,prints_Flavin_amine_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 125 0 0 91 6 6.18557 MIR222 0 genome.wustl.edu 37 X 45606494 45606494 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 45606494 45606494 T C SNP MIR222 ENST00000384992 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR222 HGNC ENSG00000207725 45 0 0 30 5 14.2857 RBM10 0 genome.wustl.edu 37 X 47045526 47045526 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 47045526 47045526 A G SNP RBM10 ENST00000377604 human ensembl 74_37 +1 known silent c.2493 p.P831 0.111 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 43 0 0 40 3 6.97674 ZNF157 0 genome.wustl.edu 37 X 47269706 47269706 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 47269706 47269706 A T SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.104 p.D35V 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 139 0 0 130 12 8.4507 ZNF157 0 genome.wustl.edu 37 X 47271938 47271938 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 47271938 47271938 C T SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.466 p.P156S 0.627 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF157 HGNC ENSG00000147117 72 0 0 68 5 6.84932 ZNF157 0 genome.wustl.edu 37 X 47272743 47272743 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 47272743 47272743 G A SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.1271 p.S424N 0.071 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 ZNF157 HGNC ENSG00000147117 39 0 0 21 5 19.2308 ZNF41 0 genome.wustl.edu 37 X 47307610 47307610 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 47307610 47307610 T C SNP ZNF41 ENST00000397050 human ensembl 74_37 -1 known missense c.1589 p.E530G 1.000 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 ZNF41 HGNC ENSG00000147124 146 0 0 113 7 5.83333 ARAF 0 genome.wustl.edu 37 X 47426532 47426532 + Splice_Site SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 47426532 47426532 T C SNP ARAF ENST00000377045 human ensembl 74_37 +1 known splice_site c.873+2 e8+2 1.000 - - - no_errors ARAF HGNC ENSG00000078061 54 0 0 58 6 9.375 SYN1 0 genome.wustl.edu 37 X 47478771 47478771 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 47478771 47478771 G A SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known silent c.357 p.I119 1.000 pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_dom pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 28 0 0 26 7 21.2121 FTSJ1 0 genome.wustl.edu 37 X 48337071 48337071 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48337071 48337071 A G SNP FTSJ1 ENST00000348411 human ensembl 74_37 +1 known silent c.258 p.V86 0.877 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJ1 HGNC ENSG00000068438 21 0 0 21 2 8.69565 FTSJ1 0 genome.wustl.edu 37 X 48339902 48339902 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48339902 48339902 G A SNP FTSJ1 ENST00000348411 human ensembl 74_37 +1 known missense c.557 p.R186Q 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJ1 HGNC ENSG00000068438 59 0 0 54 7 11.4754 FTSJ1 0 genome.wustl.edu 37 X 48340054 48340054 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48340054 48340054 C T SNP FTSJ1 ENST00000348411 human ensembl 74_37 +1 known silent c.606 p.P202 0.997 NULL pfam_rRNA_MeTrfase_FtsJ_dom - no_errors FTSJ1 HGNC ENSG00000068438 26 0 0 15 5 25 PORCN 0 genome.wustl.edu 37 X 48371053 48371053 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48371053 48371053 G A SNP PORCN ENST00000326194 human ensembl 74_37 +1 known missense c.632 p.G211D 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 27 0 0 15 12 44.4444 EBP 0 genome.wustl.edu 37 X 48386694 48386694 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48386694 48386694 A G SNP EBP ENST00000495186 human ensembl 74_37 +1 known missense c.542 p.H181R 1.000 pfam_EBP pfam_EBP - no_errors EBP HGNC ENSG00000147155 34 0 0 27 3 10 TBC1D25 0 genome.wustl.edu 37 X 48418075 48418075 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48418075 48418075 G A SNP TBC1D25 ENST00000376771 human ensembl 74_37 +1 known missense c.779 p.R260H 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC ENSG00000068354 37 0 0 43 15 25.8621 WDR13 0 genome.wustl.edu 37 X 48457143 48457143 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48457143 48457143 G A SNP WDR13 ENST00000218056 human ensembl 74_37 +1 known missense c.80 p.R27Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 28 0 0 42 5 10.6383 WDR13 0 genome.wustl.edu 37 X 48458825 48458825 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48458825 48458825 G A SNP WDR13 ENST00000218056 human ensembl 74_37 +1 known silent c.642 p.R214 0.997 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR13 HGNC ENSG00000101940 60 0 0 68 12 15 SUV39H1 0 genome.wustl.edu 37 X 48559089 48559089 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48559089 48559089 T A SNP SUV39H1 ENST00000337852 human ensembl 74_37 +1 known missense c.806 p.V269D 1.000 pfam_SET_dom,smart_SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 45 0 0 38 4 9.52381 KCND1 0 genome.wustl.edu 37 X 48826003 48826003 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48826003 48826003 G A SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.676 p.R226C 0.951 prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 27 0 0 25 8 24.2424 GRIPAP1 0 genome.wustl.edu 37 X 48837853 48837853 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48837853 48837853 A G SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known missense c.1805 p.I602T 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 19 0 0 23 6 20.6897 GRIPAP1 0 genome.wustl.edu 37 X 48839424 48839424 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48839424 48839424 C A SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known missense c.1566 p.K522N 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 78 0 0 75 5 6.25 GPKOW 0 genome.wustl.edu 37 X 48970832 48970832 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48970832 48970832 C T SNP GPKOW ENST00000156109 human ensembl 74_37 -1 known missense c.1255 p.G419S 0.152 smart_KOW pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 64 0 0 76 4 5 GPKOW 0 genome.wustl.edu 37 X 48972254 48972254 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 48972254 48972254 G A SNP GPKOW ENST00000156109 human ensembl 74_37 -1 known silent c.1131 p.Y377 0.997 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 41 0 0 33 12 26.6667 MAGIX 0 genome.wustl.edu 37 X 49021153 49021153 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 49021153 49021153 G A SNP MAGIX ENST00000376338 human ensembl 74_37 +1 known missense c.55 p.A19T 0.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors MAGIX HGNC ENSG00000017621 160 0 0 141 26 15.5689 PPP1R3F 0 genome.wustl.edu 37 X 49127054 49127054 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 49127054 49127054 A G SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.722 p.D241G 0.961 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 26 0 0 26 3 10.3448 GAGE10 0 genome.wustl.edu 37 X 49161405 49161405 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 49161405 49161405 A T SNP GAGE10 ENST00000407599 human ensembl 74_37 +1 known missense c.67 p.I23F 0.000 pfam_GAGE pfam_GAGE - no_errors GAGE10 HGNC ENSG00000215274 397 0 0 311 23 6.88623 GAGE12J 0 genome.wustl.edu 37 X 49179707 49179707 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 49179707 49179707 C T SNP GAGE12J ENST00000442437 human ensembl 74_37 +1 known missense c.35 p.P12L 0.001 pfam_GAGE pfam_GAGE - no_errors GAGE12J HGNC ENSG00000224659 456 0 0 355 25 6.57895 CLCN5 0 genome.wustl.edu 37 X 49855016 49855016 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 49855016 49855016 C A SNP CLCN5 ENST00000376088 human ensembl 74_37 +1 known missense c.1988 p.P663H 1.000 NULL pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5 - no_errors CLCN5 HGNC ENSG00000171365 89 0 0 73 5 6.41026 AKAP4 0 genome.wustl.edu 37 X 49958148 49958148 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 49958148 49958148 C T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.1216 p.A406T 0.993 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 120 0 0 111 8 6.72269 AKAP4 0 genome.wustl.edu 37 X 49958224 49958224 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 49958224 49958224 G A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known silent c.1140 p.S380 0.966 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 72 0 0 53 13 19.697 DGKK 0 genome.wustl.edu 37 X 50213510 50213510 + RNA SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 50213510 50213510 C T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.116 - - - no_errors DGKK HGNC ENSG00000204466 104 0 0 92 15 14.0187 NUDT10 0 genome.wustl.edu 37 X 51075982 51075982 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 51075982 51075982 G A SNP NUDT10 ENST00000356450 human ensembl 74_37 +1 known silent c.165 p.E55 1.000 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC ENSG00000122824 24 0 0 38 4 9.52381 CXorf67 0 genome.wustl.edu 37 X 51150240 51150240 + Silent SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 51150240 51150240 G T SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known silent c.372 p.G124 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 10 0 0 6 3 33.3333 CXorf67 0 genome.wustl.edu 37 X 51150515 51150515 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 51150515 51150515 G A SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.647 p.R216H 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 16 0 0 15 9 37.5 CXorf67 0 genome.wustl.edu 37 X 51150736 51150736 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 51150736 51150736 C T SNP CXorf67 ENST00000342995 human ensembl 74_37 +1 known missense c.868 p.R290C 0.000 NULL NULL - no_errors CXorf67 HGNC ENSG00000187690 28 0 0 17 7 29.1667 MAGED1 0 genome.wustl.edu 37 X 51639598 51639598 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 51639598 51639598 A G SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known missense c.1015 p.T339A 0.821 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 53 0 0 36 9 20 KDM5C 0 genome.wustl.edu 37 X 53230899 53230899 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53230899 53230899 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.1894 p.H632Y 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 46 0 0 37 3 7.5 KDM5C 0 genome.wustl.edu 37 X 53244983 53244983 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53244983 53244983 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.957 p.A319 1.000 superfamily_Znf_FYVE_PHD pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 92 0 0 75 10 11.7647 KDM5C 0 genome.wustl.edu 37 X 53247567 53247567 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53247567 53247567 A G SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.242 p.V81A 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 74 0 0 60 5 7.69231 IQSEC2 0 genome.wustl.edu 37 X 53268436 53268436 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53268436 53268436 T C SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.3056 p.Y1019C 1.000 smart_Pleckstrin_homology pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 77 0 0 66 5 7.04225 IQSEC2 0 genome.wustl.edu 37 X 53279871 53279871 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53279871 53279871 A G SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known silent c.1887 p.H629 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 25 0 0 33 8 19.5122 IQSEC2 0 genome.wustl.edu 37 X 53280312 53280312 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53280312 53280312 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known silent c.1446 p.H482 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 88 0 0 73 5 6.41026 SMC1A 0 genome.wustl.edu 37 X 53440054 53440054 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53440054 53440054 A T SNP SMC1A ENST00000322213 human ensembl 74_37 -1 known missense c.650 p.V217E 0.999 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 60 0 0 65 8 10.9589 HUWE1 0 genome.wustl.edu 37 X 53607904 53607904 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53607904 53607904 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.5603 p.N1868S 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 46 0 0 31 5 13.8889 PHF8 0 genome.wustl.edu 37 X 54014280 54014280 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54014280 54014280 C T SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.1936 p.E646K 0.392 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 61 0 0 53 4 7.01754 PHF8 0 genome.wustl.edu 37 X 54019239 54019239 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54019239 54019239 C T SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.1768 p.D590N 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 43 0 0 35 4 10.2564 WNK3 0 genome.wustl.edu 37 X 54263865 54263865 + Silent SNP A A C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54263865 54263865 A C SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known silent c.4134 p.S1378 0.983 NULL pfam_Prot_kinase_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_dom - no_errors WNK3 HGNC ENSG00000196632 138 0 0 93 7 7 FGD1 0 genome.wustl.edu 37 X 54491892 54491892 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54491892 54491892 T C SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.1628 p.D543G 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 85 0 0 58 4 6.45161 ITIH6 0 genome.wustl.edu 37 X 54784875 54784875 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54784875 54784875 C A SNP ITIH6 ENST00000218436 human ensembl 74_37 -1 known missense c.1632 p.K544N 0.001 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 24 0 0 20 3 13.0435 TRO 0 genome.wustl.edu 37 X 54955368 54955368 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54955368 54955368 T C SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.2211 p.A737 0.785 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 32 0 0 33 5 13.1579 TRO 0 genome.wustl.edu 37 X 54955548 54955548 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54955548 54955548 T C SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.2391 p.C797 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 98 0 0 91 7 7.14286 KLF8 0 genome.wustl.edu 37 X 56276693 56276693 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 56276693 56276693 G A SNP KLF8 ENST00000468660 human ensembl 74_37 +1 known missense c.37 p.V13I 0.281 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF8 HGNC ENSG00000102349 204 0 0 141 9 6 FAAH2 0 genome.wustl.edu 37 X 57367813 57367813 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 57367813 57367813 G A SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known silent c.732 p.K244 0.999 pfam_Amidase,superfamily_Amidase_dom pfam_Amidase,superfamily_Amidase_dom - no_errors FAAH2 HGNC ENSG00000165591 450 0 0 313 32 9.27536 ZXDA 0 genome.wustl.edu 37 X 57935777 57935777 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 57935777 57935777 A T SNP ZXDA ENST00000358697 human ensembl 74_37 -1 known missense c.1078 p.F360I 0.966 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDA HGNC ENSG00000198205 75 0 0 67 18 21.1765 NLGN4X 0 genome.wustl.edu 37 X 5827247 5827247 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 5827247 5827247 C T SNP NLGN4X ENST00000381093 human ensembl 74_37 -1 known missense c.719 p.G240D 1.000 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN4X HGNC ENSG00000146938 93 0 0 82 8 8.88889 ARHGEF9 0 genome.wustl.edu 37 X 62893983 62893983 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 62893983 62893983 G A SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known missense c.859 p.R287C 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 104 0 0 73 18 19.7802 ARHGEF9 0 genome.wustl.edu 37 X 62944564 62944564 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 62944564 62944564 C G SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known missense c.37 p.A13P 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 99 0 0 78 5 6.0241 MTMR8 0 genome.wustl.edu 37 X 63445207 63445207 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 63445207 63445207 C T SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known silent c.1449 p.T483 0.971 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Myotubularin-like_Pase_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 - no_errors MTMR8 HGNC ENSG00000102043 19 0 0 19 8 29.6296 MTMR8 0 genome.wustl.edu 37 X 63445479 63445479 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 63445479 63445479 T C SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known missense c.1177 p.I393V 1.000 NULL pfam_Myotubularin-like_Pase_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 - no_errors MTMR8 HGNC ENSG00000102043 25 0 0 17 5 22.7273 ZC3H12B 0 genome.wustl.edu 37 X 64722378 64722378 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 64722378 64722378 C T SNP ZC3H12B ENST00000338957 human ensembl 74_37 +1 known silent c.1800 p.N600 0.717 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 40 0 0 32 4 11.1111 MSN 0 genome.wustl.edu 37 X 64951829 64951829 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 64951829 64951829 C A SNP MSN ENST00000360270 human ensembl 74_37 +1 known silent c.681 p.I227 1.000 pirsf_ERM,pfam_FERM_PH-like_C,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 98 0 0 90 10 10 MSN 0 genome.wustl.edu 37 X 64957057 64957057 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 64957057 64957057 C T SNP MSN ENST00000360270 human ensembl 74_37 +1 known missense c.1108 p.R370C 1.000 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 15 0 0 13 5 27.7778 OPHN1 0 genome.wustl.edu 37 X 67502906 67502906 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 67502906 67502906 T A SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.304 p.M102L 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 57 0 0 40 3 6.97674 YIPF6 0 genome.wustl.edu 37 X 67751834 67751834 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 67751834 67751834 C A SNP YIPF6 ENST00000462683 human ensembl 74_37 +1 known missense c.704 p.P235H 0.999 NULL pfam_Yip1 - no_errors YIPF6 HGNC ENSG00000181704 54 0 0 39 5 11.3636 STARD8 0 genome.wustl.edu 37 X 67941915 67941915 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 67941915 67941915 G A SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2486 p.G829D 0.997 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 44 0 0 28 6 17.6471 EFNB1 0 genome.wustl.edu 37 X 68060180 68060180 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 68060180 68060180 G A SNP EFNB1 ENST00000204961 human ensembl 74_37 +1 known missense c.724 p.A242T 0.809 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 42 0 0 45 5 10 EFNB1 0 genome.wustl.edu 37 X 68060449 68060449 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 68060449 68060449 C T SNP EFNB1 ENST00000204961 human ensembl 74_37 +1 known silent c.993 p.V331 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB1 HGNC ENSG00000090776 34 0 0 22 3 12 PJA1 0 genome.wustl.edu 37 X 68381999 68381999 + Nonsense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 68381999 68381999 G T SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known nonsense c.1083 p.C361* 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 82 0 0 78 7 8.23529 EDA 0 genome.wustl.edu 37 X 68836169 68836169 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 68836169 68836169 T C SNP EDA ENST00000374552 human ensembl 74_37 +1 known missense c.17 p.V6A 0.070 NULL pfam_TNF_dom,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors EDA HGNC ENSG00000158813 22 0 0 16 3 15.7895 EDA 0 genome.wustl.edu 37 X 68836237 68836237 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 68836237 68836237 G A SNP EDA ENST00000374552 human ensembl 74_37 +1 known missense c.85 p.G29R 0.999 NULL pfam_TNF_dom,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,pfscan_TNF_dom - no_errors EDA HGNC ENSG00000158813 37 0 0 40 10 20 KIF4A 0 genome.wustl.edu 37 X 69639532 69639532 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 69639532 69639532 C T SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.3394 p.R1132W 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 114 1 0.869565 97 14 12.6126 KIF4A 0 genome.wustl.edu 37 X 69639929 69639929 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 69639929 69639929 C T SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known silent c.3513 p.C1171 0.996 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 76 0 0 48 14 22.5806 GDPD2 0 genome.wustl.edu 37 X 69647035 69647035 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 69647035 69647035 G A SNP GDPD2 ENST00000453994 human ensembl 74_37 +1 known missense c.751 p.G251R 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 84 0 0 81 11 11.9565 GDPD2 0 genome.wustl.edu 37 X 69649741 69649741 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 69649741 69649741 A G SNP GDPD2 ENST00000472623 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GDPD2 HGNC ENSG00000130055 55 0 0 43 8 15.6863 GDPD2 0 genome.wustl.edu 37 X 69649837 69649837 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 69649837 69649837 C T SNP GDPD2 ENST00000453994 human ensembl 74_37 +1 known missense c.1231 p.R411C 0.317 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 71 0 0 74 7 8.64198 GDPD2 0 genome.wustl.edu 37 X 69652204 69652204 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 69652204 69652204 A G SNP GDPD2 ENST00000453994 human ensembl 74_37 +1 known missense c.1508 p.K503R 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 190 0 0 171 14 7.56757 SLC7A3 0 genome.wustl.edu 37 X 70148105 70148105 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70148105 70148105 A G SNP SLC7A3 ENST00000298085 human ensembl 74_37 -1 known missense c.710 p.L237S 0.998 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A3 HGNC ENSG00000165349 39 0 0 34 7 17.0732 CXorf65 0 genome.wustl.edu 37 X 70326212 70326212 + Silent SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70326212 70326212 A G SNP CXorf65 ENST00000374251 human ensembl 74_37 -1 known silent c.90 p.S30 0.000 NULL NULL - no_errors CXorf65 HGNC ENSG00000204165 84 0 0 60 14 18.9189 IL2RG 0 genome.wustl.edu 37 X 70327621 70327621 + Missense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70327621 70327621 C G SNP IL2RG ENST00000374202 human ensembl 74_37 -1 known missense c.1075 p.A359P 0.166 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 27 0 0 32 7 17.9487 NLGN3 0 genome.wustl.edu 37 X 70389593 70389593 + Nonsense_Mutation SNP C C G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70389593 70389593 C G SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known nonsense c.2193 p.Y731* 1.000 prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 31 0 0 31 11 26.1905 ACRC 0 genome.wustl.edu 37 X 70823666 70823666 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70823666 70823666 A G SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.539 p.D180G 0.111 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 334 0 0 238 26 9.84848 ACRC 0 genome.wustl.edu 37 X 70832302 70832302 + Nonsense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70832302 70832302 T A SNP ACRC ENST00000373695 human ensembl 74_37 +1 known nonsense c.1848 p.Y616* 1.000 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 38 0 0 22 3 12 CXCR3 0 genome.wustl.edu 37 X 70836470 70836470 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70836470 70836470 G A SNP CXCR3 ENST00000373691 human ensembl 74_37 -1 known silent c.993 p.G331 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR3,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 53 0 0 31 4 11.4286 RGAG4 0 genome.wustl.edu 37 X 71349878 71349878 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 71349878 71349878 T C SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.1513 p.R505G 0.380 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 41 0 0 44 4 8.33333 RGAG4 0 genome.wustl.edu 37 X 71350381 71350381 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 71350381 71350381 T C SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.1010 p.E337G 0.008 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 96 0 0 79 10 11.236 PIN4 0 genome.wustl.edu 37 X 71416695 71416695 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 71416695 71416695 T A SNP PIN4 ENST00000373669 human ensembl 74_37 +1 known missense c.253 p.S85T 1.000 pfam_PPIase_PpiC,pfscan_PPIase_PpiC pfam_PPIase_PpiC,pfscan_PPIase_PpiC - no_errors PIN4 HGNC ENSG00000102309 156 0 0 97 10 9.34579 ERCC6L 0 genome.wustl.edu 37 X 71425828 71425828 + Missense_Mutation SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 71425828 71425828 T A SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.2789 p.D930V 0.459 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 104 0 0 89 6 6.31579 HDAC8 0 genome.wustl.edu 37 X 71787753 71787753 + Nonsense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 71787753 71787753 C T SNP HDAC8 ENST00000373573 human ensembl 74_37 -1 known nonsense c.423 p.W141* 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC8 HGNC ENSG00000147099 173 0 0 138 12 8 NAP1L2 0 genome.wustl.edu 37 X 72433875 72433875 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 72433875 72433875 G A SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known missense c.454 p.R152C 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 216 0 0 144 40 21.7391 XIST 0 genome.wustl.edu 37 X 73040844 73040844 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73040844 73040844 T C SNP XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors XIST HGNC ENSG00000229807 110 0 0 78 13 14.2857 XIST 0 genome.wustl.edu 37 X 73042647 73042647 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73042647 73042647 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XIST HGNC ENSG00000229807 111 1 0.892857 76 7 8.43373 XIST 0 genome.wustl.edu 37 X 73044507 73044507 + RNA SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73044507 73044507 T C SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 88 0 0 64 12 15.7895 XIST 0 genome.wustl.edu 37 X 73044614 73044614 + RNA SNP T T A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73044614 73044614 T A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 111 0 0 87 11 11.2245 XIST 0 genome.wustl.edu 37 X 73063303 73063303 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73063303 73063303 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 58 0 0 38 3 7.31707 XIST 0 genome.wustl.edu 37 X 73065194 73065194 + RNA SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73065194 73065194 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors XIST HGNC ENSG00000229807 154 0 0 163 16 8.93855 SLC16A2 0 genome.wustl.edu 37 X 73749123 73749123 + Missense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73749123 73749123 G A SNP SLC16A2 ENST00000276033 human ensembl 74_37 +1 known missense c.1468 p.V490I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A2 HGNC ENSG00000147100 64 0 0 53 4 7.01754 RLIM 0 genome.wustl.edu 37 X 73812655 73812655 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73812655 73812655 T C SNP RLIM ENST00000332687 human ensembl 74_37 -1 known silent c.495 p.G165 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 203 1 0.490196 151 26 14.6893 KIAA2022 0 genome.wustl.edu 37 X 73963610 73963610 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73963610 73963610 A T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.782 p.F261Y 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 214 0 0 158 10 5.95238 KIAA2022 0 genome.wustl.edu 37 X 73964288 73964288 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 73964288 73964288 A G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.104 p.M35T 0.927 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 28 0 0 26 4 13.3333 ABCB7 0 genome.wustl.edu 37 X 74289248 74289248 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 74289248 74289248 T C SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known silent c.1410 p.T470 0.957 superfamily_P-loop_NTPase,superfamily_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 ABCB7 HGNC ENSG00000131269 127 0 0 82 23 21.9048 UPRT 0 genome.wustl.edu 37 X 74523346 74523346 + Nonstop_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 74523346 74523346 A T SNP UPRT ENST00000373383 human ensembl 74_37 +1 known nonstop c.930 p.*310Y 1.000 NULL pfam_PRibTrfase_dom - no_errors UPRT HGNC ENSG00000094841 97 0 0 64 7 9.85915 PBDC1 0 genome.wustl.edu 37 X 75395397 75395397 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 75395397 75395397 T C SNP PBDC1 ENST00000373358 human ensembl 74_37 +1 known silent c.246 p.L82 0.998 pfam_Put_polysacc_synth pfam_Put_polysacc_synth - no_errors PBDC1 HGNC ENSG00000102390 69 0 0 38 5 11.6279 MAGEE1 0 genome.wustl.edu 37 X 75649862 75649862 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 75649862 75649862 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known silent c.1539 p.R513 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 114 0 0 75 6 7.40741 MAGEE1 0 genome.wustl.edu 37 X 75650756 75650756 + Silent SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 75650756 75650756 C A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known silent c.2433 p.S811 0.469 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 75 0 0 102 9 8.10811 PGAM4 0 genome.wustl.edu 37 X 77224638 77224638 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 77224638 77224638 G A SNP PGAM4 ENST00000458128 human ensembl 74_37 -1 known silent c.498 p.F166 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,tigrfam_Phosphogly_mut1 - no_errors PGAM4 HGNC ENSG00000226784 149 0 0 143 14 8.9172 ATP7A 0 genome.wustl.edu 37 X 77227165 77227165 + Silent SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 77227165 77227165 T C SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known silent c.27 p.S9 0.292 superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_HG_scavenger pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 402 0 0 280 27 8.79479 ATP7A 0 genome.wustl.edu 37 X 77254041 77254041 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 77254041 77254041 A T SNP ATP7A ENST00000341514 human ensembl 74_37 +1 known missense c.1403 p.N468I 0.023 NULL pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 271 0 0 192 46 19.3277 PGK1 0 genome.wustl.edu 37 X 77369604 77369604 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 77369604 77369604 C A SNP PGK1 ENST00000373316 human ensembl 74_37 +1 known missense c.364 p.L122I 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK1 HGNC ENSG00000102144 313 1 0.318471 284 33 10.4101 TAF9B 0 genome.wustl.edu 37 X 77393267 77393267 + Silent SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 77393267 77393267 C T SNP TAF9B ENST00000341864 human ensembl 74_37 -1 known silent c.384 p.R128 0.968 pfam_TFIID-31 pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 143 0 0 79 14 15.0538 CYSLTR1 0 genome.wustl.edu 37 X 77528568 77528568 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 77528568 77528568 A G SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known missense c.676 p.S226P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_CLT1_recept,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 62 0 0 39 5 11.3636 P2RY10 0 genome.wustl.edu 37 X 78216180 78216180 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 78216180 78216180 G T SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known missense c.163 p.A55S 0.943 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 151 0 0 111 11 9.01639 TBX22 0 genome.wustl.edu 37 X 79278708 79278708 + Missense_Mutation SNP G G T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 79278708 79278708 G T SNP TBX22 ENST00000373294 human ensembl 74_37 +1 known missense c.325 p.G109W 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX22 HGNC ENSG00000122145 76 0 0 92 6 6.12245 BRWD3 0 genome.wustl.edu 37 X 79948491 79948491 + Nonsense_Mutation SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 79948491 79948491 G A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known nonsense c.3211 p.Q1071* 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 258 0 0 151 56 27.0531 BRWD3 0 genome.wustl.edu 37 X 79978164 79978164 + Missense_Mutation SNP A A T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 79978164 79978164 A T SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.1773 p.D591E 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 102 0 0 86 5 5.49451 RPS6KA6 0 genome.wustl.edu 37 X 83352817 83352817 + Missense_Mutation SNP A A G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 83352817 83352817 A G SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1816 p.W606R 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,pirsf_Ribosomal_S6_kinase_II,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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 322 0 0 210 24 10.2564 RPS6KA6 0 genome.wustl.edu 37 X 83359656 83359656 + Missense_Mutation SNP C C A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 83359656 83359656 C A SNP RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known missense c.1465 p.D489Y 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,pirsf_Ribosomal_S6_kinase_II,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,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 56 0 0 40 5 11.1111 NAP1L3 0 genome.wustl.edu 37 X 92928184 92928184 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 92928184 92928184 G A SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known silent c.120 p.S40 0.823 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 50 0 0 41 5 10.8696 PCDH19 0 genome.wustl.edu 37 X 99551344 99551344 + Silent SNP G G A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 99551344 99551344 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.3378 p.S1126 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 185 0 0 164 13 7.34463 PCDH19 0 genome.wustl.edu 37 X 99661923 99661923 + Missense_Mutation SNP T T C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 99661923 99661923 T C SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.1673 p.D558G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 128 0 0 126 7 5.26316 SYTL4 0 genome.wustl.edu 37 X 99942073 99942073 + Missense_Mutation SNP C C T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 99942073 99942073 C T SNP SYTL4 ENST00000454200 human ensembl 74_37 -1 known missense c.1181 p.R394H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin - no_errors SYTL4 HGNC ENSG00000102362 72 0 0 84 11 11.5789 SASS6 0 genome.wustl.edu 37 1 100584676 100584676 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 100584676 100584676 T - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.567 p.K189fs 0.240 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 63 0 0 29 7 19.4444 KIF1B 0 genome.wustl.edu 37 1 10407870 10407871 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 10407870 10407871 - T INS KIF1B ENST00000263934 human ensembl 74_37 +1 known frame_shift_ins c.3711_3712 p.L1238fs 0.977:1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 126 0 0 106 8 7.01754 WDR47 0 genome.wustl.edu 37 1 109560141 109560141 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 109560141 109560141 T - DEL WDR47 ENST00000400794 human ensembl 74_37 -1 known frame_shift_del c.241 p.R81fs 1.000 smart_CTLH_C,pfscan_CTLH_C pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 105 0 0 72 6 7.69231 ST7L 0 genome.wustl.edu 37 1 113084682 113084682 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 113084682 113084682 T - DEL ST7L ENST00000358039 human ensembl 74_37 -1 known frame_shift_del c.1520 p.K507fs 1.000 pfam_ST7 pfam_ST7 - no_errors ST7L HGNC ENSG00000007341 82 0 0 51 9 15 LRIG2 0 genome.wustl.edu 37 1 113637348 113637349 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 113637348 113637349 - T INS LRIG2 ENST00000361127 human ensembl 74_37 +1 known frame_shift_ins c.774_775 p.G260fs 0.811:1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 153 1 0.649351 112 12 9.67742 HIPK1 0 genome.wustl.edu 37 1 114483078 114483078 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 114483078 114483078 A - DEL HIPK1 ENST00000369558 human ensembl 74_37 +1 known frame_shift_del c.73 p.I26fs 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 HIPK1 HGNC ENSG00000163349 407 0 0 311 20 6.0423 CD58 0 genome.wustl.edu 37 1 117078661 117078662 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 117078661 117078662 - T INS CD58 ENST00000369489 human ensembl 74_37 -1 known frame_shift_ins c.554_553 p.I185fs 0.001:0.000 NULL NULL - no_errors CD58 HGNC ENSG00000116815 95 0 0 78 9 10.3448 HSD3B1 0 genome.wustl.edu 37 1 120056589 120056589 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 120056589 120056589 A - DEL HSD3B1 ENST00000235547 human ensembl 74_37 +1 known frame_shift_del c.449 p.N151fs 0.110 pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_dTDP_dehydrorham_reduct pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_DH_sc/Rdtase_SDR,pfam_dTDP_dehydrorham_reduct,pfam_PKS_KR,pfam_NmrA - no_errors HSD3B1 HGNC ENSG00000203857 183 0 0 166 13 7.26257 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 12 0 0 16 6 27.2727 VWA1 0 genome.wustl.edu 37 1 1372321 1372322 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 1372321 1372322 - C INS VWA1 ENST00000476993 human ensembl 74_37 +1 known frame_shift_ins c.88_89 p.R32fs 0.005:0.010 smart_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 87 0 0 85 7 7.6087 PDPN 0 genome.wustl.edu 37 1 13910412 13910413 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 13910412 13910413 - C INS PDPN ENST00000294489 human ensembl 74_37 +1 known frame_shift_ins c.112_113 p.P41fs 0.000:0.000 NULL pfam_Podoplanin - no_errors PDPN HGNC ENSG00000162493 42 0 0 46 8 14.8148 PRDM2 0 genome.wustl.edu 37 1 14106661 14106662 + Frame_Shift_Del DEL GA GA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 14106661 14106662 GA - DEL PRDM2 ENST00000235372 human ensembl 74_37 +1 known frame_shift_del c.2371_2372 p.E793fs 1.000:1.000 pirsf_RIZ_retinblastoma-bd_prot pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM2 HGNC ENSG00000116731 74 0 0 47 13 21.6667 BCL9 0 genome.wustl.edu 37 1 147091501 147091501 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 147091501 147091501 C - DEL BCL9 ENST00000234739 human ensembl 74_37 +1 known frame_shift_del c.1540 p.P516fs 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 135 0 0 124 9 6.76692 MTMR11 0 genome.wustl.edu 37 1 149900796 149900796 + RNA DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 149900796 149900796 A - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors MTMR11 HGNC ENSG00000014914 89 0 0 49 16 24.6154 PLEKHO1 0 genome.wustl.edu 37 1 150131221 150131222 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 150131221 150131222 - A INS PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known frame_shift_ins c.631_632 p.T213fs 0.999:0.887 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 50 0 0 45 7 13.4615 ADAMTSL4 0 genome.wustl.edu 37 1 150526207 150526207 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 150526207 150526207 C - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.740 p.L249fs 0.000 pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 41 0 0 49 7 12.5 RFX5 0 genome.wustl.edu 37 1 151318753 151318753 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 151318753 151318753 C - DEL RFX5 ENST00000290524 human ensembl 74_37 -1 known frame_shift_del c.44 p.G15fs 0.996 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC ENSG00000143390 115 0 0 145 12 7.64331 S100A8 0 genome.wustl.edu 37 1 153362605 153362605 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153362605 153362605 T - DEL S100A8 ENST00000368732 human ensembl 74_37 -1 known frame_shift_del c.256 p.S86fs 0.242 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A8 HGNC ENSG00000143546 144 0 0 113 24 17.5182 CRTC2 0 genome.wustl.edu 37 1 153924673 153924673 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153924673 153924673 C - DEL CRTC2 ENST00000368633 human ensembl 74_37 -1 known frame_shift_del c.818 p.G273fs 1.000 NULL NULL - no_errors CRTC2 HGNC ENSG00000160741 81 0 0 60 18 23.0769 NUP210L 0 genome.wustl.edu 37 1 153965403 153965404 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 153965403 153965404 - A INS NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_ins c.5575_5574 p.N1858fs 0.000:0.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 204 0 0 175 12 6.41711 ADAR 0 genome.wustl.edu 37 1 154570393 154570393 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 154570393 154570393 G - DEL ADAR ENST00000292205 human ensembl 74_37 -1 known frame_shift_del c.1974 p.V659fs 0.415 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_dsRNA-bd_dom,smart_dsRNA_A_deaminase,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_dsRNA_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 60 0 0 65 9 12.1622 PBXIP1 0 genome.wustl.edu 37 1 154924316 154924317 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 154924316 154924317 - T INS PBXIP1 ENST00000490230 human ensembl 74_37 -1 known frame_shift_ins c.133_132 p.S44fs 0.002:0.003 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 205 0 0 180 14 7.21649 SHC1 0 genome.wustl.edu 37 1 154942910 154942911 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 154942910 154942911 - G INS SHC1 ENST00000368445 human ensembl 74_37 -1 known frame_shift_ins c.93_92 p.E32fs 1.000:1.000 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 53 0 0 47 12 20.339 EFNA4 0 genome.wustl.edu 37 1 155041388 155041388 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155041388 155041388 G - DEL EFNA4 ENST00000368409 human ensembl 74_37 +1 known frame_shift_del c.529 p.D179fs 0.930 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA4 HGNC ENSG00000243364 58 0 0 55 15 21.4286 THBS3 0 genome.wustl.edu 37 1 155172646 155172646 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155172646 155172646 G - DEL THBS3 ENST00000368378 human ensembl 74_37 -1 known frame_shift_del c.914 p.P305fs 0.150 smart_EG-like_dom pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors THBS3 HGNC ENSG00000169231 98 0 0 112 7 5.88235 DAP3 0 genome.wustl.edu 37 1 155706792 155706793 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 155706792 155706793 - A INS DAP3 ENST00000343043 human ensembl 74_37 +1 known frame_shift_ins c.1049_1050 p.E352fs 1.000:0.998 pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase pfam_Ribosomal_S23/S29_mit,superfamily_P-loop_NTPase,prints_Ribosomal_S29_mit - no_errors DAP3 HGNC ENSG00000132676 199 0 0 140 17 10.828 TMEM79 0 genome.wustl.edu 37 1 156255498 156255498 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156255498 156255498 C - DEL TMEM79 ENST00000295694 human ensembl 74_37 +1 known frame_shift_del c.481 p.R163fs 0.004 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 56 0 0 53 19 26.3889 NES 0 genome.wustl.edu 37 1 156642804 156642804 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156642804 156642804 G - DEL NES ENST00000368223 human ensembl 74_37 -1 known frame_shift_del c.1176 p.T393fs 0.087 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 198 0 0 212 18 7.82609 ISG20L2 0 genome.wustl.edu 37 1 156694023 156694023 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156694023 156694023 G - DEL ISG20L2 ENST00000313146 human ensembl 74_37 -1 known frame_shift_del c.865 p.L289fs 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors ISG20L2 HGNC ENSG00000143319 109 1 0.909091 92 26 22.0339 MRPL24 0 genome.wustl.edu 37 1 156707205 156707207 + In_Frame_Del DEL CTT CTT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156707205 156707207 CTT - DEL MRPL24 ENST00000361531 human ensembl 74_37 -1 known in_frame_del c.636_634 p.K212in_frame_del 0.991:1.000:1.000 NULL pfam_KOW,superfamily_Translation_prot_SH3-like,smart_KOW,tigrfam_Ribosomal_L24 - no_errors MRPL24 HGNC ENSG00000143314 115 0 0 109 6 5.21739 SH2D2A 0 genome.wustl.edu 37 1 156779524 156779524 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 156779524 156779524 G - DEL SH2D2A ENST00000392306 human ensembl 74_37 -1 known frame_shift_del c.673 p.Q225fs 0.000 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 211 0 0 175 36 17.0616 COPA 0 genome.wustl.edu 37 1 160267486 160267486 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 160267486 160267486 T - DEL COPA ENST00000368069 human ensembl 74_37 -1 known frame_shift_del c.2054 p.K685fs 1.000 pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 127 0 0 111 7 5.9322 ARHGAP30 0 genome.wustl.edu 37 1 161039361 161039361 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161039361 161039361 A - DEL ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known frame_shift_del c.54 p.F18fs 0.998 superfamily_Rho_GTPase_activation_prot pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 87 0 0 81 20 19.802 NDUFS2 0 genome.wustl.edu 37 1 161179937 161179937 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 161179937 161179937 T - DEL NDUFS2 ENST00000367993 human ensembl 74_37 +1 known frame_shift_del c.739 p.S248fs 1.000 pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H - no_errors NDUFS2 HGNC ENSG00000158864 112 0 0 96 9 8.57143 SPEN 0 genome.wustl.edu 37 1 16258944 16258944 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16258944 16258944 A - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.6209 p.N2072fs 0.990 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 107 0 0 102 9 8.10811 EPHA2 0 genome.wustl.edu 37 1 16462199 16462199 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16462199 16462199 G - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.1379 p.P460fs 0.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 72 0 0 68 9 11.6883 EPHA2 0 genome.wustl.edu 37 1 16474977 16474977 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 16474977 16474977 C - DEL EPHA2 ENST00000358432 human ensembl 74_37 -1 known frame_shift_del c.719 p.G240fs 0.042 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA2 HGNC ENSG00000142627 49 0 0 87 7 7.44681 POGK 0 genome.wustl.edu 37 1 166815879 166815880 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 166815879 166815880 - A INS POGK ENST00000367875 human ensembl 74_37 +1 known frame_shift_ins c.163_164 p.Y55fs 1.000:1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 168 0 0 128 13 9.21986 PRRC2C 0 genome.wustl.edu 37 1 171510134 171510135 + Frame_Shift_Del DEL AG AG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 171510134 171510135 AG - DEL PRRC2C ENST00000392078 human ensembl 74_37 +1 known frame_shift_del c.3529_3530 p.D1180fs 1.000:1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 100 0 0 92 7 7.07071 CENPL 0 genome.wustl.edu 37 1 173776460 173776461 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 173776460 173776461 - A INS CENPL ENST00000356198 human ensembl 74_37 -1 known frame_shift_ins c.365_364 p.S122fs 1.000:1.000 NULL NULL - no_errors CENPL HGNC ENSG00000120334 160 0 0 115 12 9.44882 SMG7 0 genome.wustl.edu 37 1 183514090 183514090 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 183514090 183514090 C - DEL SMG7 ENST00000507469 human ensembl 74_37 +1 known frame_shift_del c.1875 p.P627fs 0.992 NULL pfam_EST1 - no_errors SMG7 HGNC ENSG00000116698 141 0 0 130 14 9.72222 TMCO4 0 genome.wustl.edu 37 1 20009620 20009620 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 20009620 20009620 G - DEL TMCO4 ENST00000294543 human ensembl 74_37 -1 known frame_shift_del c.1818 p.I607fs 0.000 NULL pfam_DUF726,pfam_DUF900_hydrolase - no_errors TMCO4 HGNC ENSG00000162542 81 0 0 54 21 28 KIF14 0 genome.wustl.edu 37 1 200534700 200534700 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 200534700 200534700 A - DEL KIF14 ENST00000367350 human ensembl 74_37 -1 known frame_shift_del c.3759 p.F1253fs 0.403 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 91 0 0 48 8 14.2857 CAMSAP2 0 genome.wustl.edu 37 1 200818495 200818495 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 200818495 200818495 C - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.2631 p.S879fs 0.977 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 221 0 0 154 22 12.5 IPO9 0 genome.wustl.edu 37 1 201828050 201828050 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 201828050 201828050 A - DEL IPO9 ENST00000361565 human ensembl 74_37 +1 known frame_shift_del c.1396 p.N467fs 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO9 HGNC ENSG00000198700 83 0 0 65 7 9.72222 KDM5B 0 genome.wustl.edu 37 1 202704625 202704625 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 202704625 202704625 T - DEL KDM5B ENST00000367264 human ensembl 74_37 -1 known frame_shift_del c.3463 p.S1155fs 0.000 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5B HGNC ENSG00000117139 126 0 0 97 14 12.6126 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 37 0 0 43 12 21.8182 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 214 0 0 193 34 14.978 PFKFB2 0 genome.wustl.edu 37 1 207240883 207240884 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 207240883 207240884 - T INS PFKFB2 ENST00000367080 human ensembl 74_37 +1 known frame_shift_ins c.672_673 p.L225fs 0.557:1.000 pfam_6Phosfructo_kin,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 152 0 0 104 9 7.9646 CR2 0 genome.wustl.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 207642044 207642044 C - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.618 p.T209fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 177 0 0 144 10 6.49351 SERTAD4 0 genome.wustl.edu 37 1 210411419 210411419 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 210411419 210411419 C - DEL SERTAD4 ENST00000367012 human ensembl 74_37 +1 known frame_shift_del c.114 p.P40fs 0.936 NULL pfam_SERTA,pfscan_SERTA - no_errors SERTAD4 HGNC ENSG00000082497 131 0 0 96 16 14.2857 LBR 0 genome.wustl.edu 37 1 225607082 225607084 + In_Frame_Del DEL CTT CTT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 225607082 225607084 CTT - DEL LBR ENST00000272163 human ensembl 74_37 -1 known in_frame_del c.523_521 p.E174in_frame_del 0.008:0.165:0.955 NULL pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 152 0 0 98 10 9.25926 OBSCN 0 genome.wustl.edu 37 1 228401963 228401963 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 228401963 228401963 C - DEL OBSCN ENST00000422127 human ensembl 74_37 +1 known frame_shift_del c.1347 p.V451fs 0.000 smart_Ig_sub 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 75 0 0 81 5 5.81395 RAB4A 0 genome.wustl.edu 37 1 229431635 229431637 + In_Frame_Del DEL CTC CTC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 229431635 229431637 CTC - DEL RAB4A ENST00000366690 human ensembl 74_37 +1 known in_frame_del c.268_270 p.L91in_frame_del 0.922:0.930:0.471 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,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 RAB4A HGNC ENSG00000168118 96 0 0 81 11 11.9565 AGT 0 genome.wustl.edu 37 1 230839055 230839055 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 230839055 230839055 A - DEL AGT ENST00000366667 human ensembl 74_37 -1 known frame_shift_del c.1290 p.F430fs 0.354 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 92 0 0 64 6 8.57143 SIPA1L2 0 genome.wustl.edu 37 1 232575072 232575072 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 232575072 232575072 G - DEL SIPA1L2 ENST00000262861 human ensembl 74_37 -1 known frame_shift_del c.3813 p.C1272fs 0.001 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L2 HGNC ENSG00000116991 58 0 0 86 5 5.49451 MAP10 0 genome.wustl.edu 37 1 232942991 232942991 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 232942991 232942991 A - DEL MAP10 ENST00000418460 human ensembl 74_37 +1 known frame_shift_del c.2222 p.K743fs 0.013 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 107 0 0 83 13 13.5417 LYST 0 genome.wustl.edu 37 1 235972662 235972663 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 235972662 235972663 - T INS LYST ENST00000389793 human ensembl 74_37 -1 known frame_shift_ins c.1456_1455 p.V485fs 1.000:0.998 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 136 0 0 82 18 18 NID1 0 genome.wustl.edu 37 1 236154239 236154239 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 236154239 236154239 G - DEL NID1 ENST00000264187 human ensembl 74_37 -1 known frame_shift_del c.2875 p.L959fs 0.996 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 91 0 0 92 5 5.15464 PLD5 0 genome.wustl.edu 37 1 242428735 242428736 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 242428735 242428736 - A INS PLD5 ENST00000536534 human ensembl 74_37 -1 known frame_shift_ins c.511_510 p.E170fs 1.000:1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 50 0 0 39 7 15.2174 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 68 0 0 58 6 9.375 OR2T4 0 genome.wustl.edu 37 1 248525680 248525681 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 248525680 248525681 - A INS OR2T4 ENST00000366475 human ensembl 74_37 +1 known frame_shift_ins c.798_799 p.A268fs 0.000:0.001 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 OR2T4 HGNC ENSG00000196944 182 0 0 141 15 9.61538 SRRM1 0 genome.wustl.edu 37 1 24977948 24977949 + Frame_Shift_Del DEL GA GA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 24977948 24977949 GA - DEL SRRM1 ENST00000447431 human ensembl 74_37 +1 known frame_shift_del c.570_571 p.R193fs 1.000:1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 89 0 0 64 13 16.8831 LDLRAP1 0 genome.wustl.edu 37 1 25889632 25889632 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 25889632 25889632 T - DEL LDLRAP1 ENST00000374338 human ensembl 74_37 +1 known frame_shift_del c.604 p.S202fs 0.000 NULL pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors LDLRAP1 HGNC ENSG00000157978 60 0 0 66 7 9.58904 ARID1A 0 genome.wustl.edu 37 1 27100182 27100184 + In_Frame_Del DEL GCA GCA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 27100182 27100184 GCA - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known in_frame_del c.3978_3980 p.Q1330in_frame_del 0.986:0.981:0.931 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 82 0 0 104 6 5.45455 ARID1A 0 genome.wustl.edu 37 1 27105931 27105931 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 27105931 27105931 G - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5542 p.D1850fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 111 0 0 63 54 46.1538 AHDC1 0 genome.wustl.edu 37 1 27876869 27876869 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 27876869 27876869 T - DEL AHDC1 ENST00000247087 human ensembl 74_37 -1 known frame_shift_del c.1758 p.K586fs 0.415 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 75 0 0 63 14 18.1818 PUM1 0 genome.wustl.edu 37 1 31426582 31426583 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 31426582 31426583 - A INS PUM1 ENST00000426105 human ensembl 74_37 -1 known frame_shift_ins c.2570_2569 p.S857fs 1.000:1.000 pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 276 0 0 224 20 8.19672 HDAC1 0 genome.wustl.edu 37 1 32797831 32797833 + In_Frame_Del DEL GAG GAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 32797831 32797833 GAG - DEL HDAC1 ENST00000373548 human ensembl 74_37 +1 known in_frame_del c.1360_1362 p.E455in_frame_del 1.000:1.000:0.967 NULL pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC1 HGNC ENSG00000116478 99 0 0 90 7 7.21649 GJA4 0 genome.wustl.edu 37 1 35260727 35260727 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 35260727 35260727 C - DEL GJA4 ENST00000342280 human ensembl 74_37 +1 known frame_shift_del c.913 p.P306fs 0.001 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 35 0 0 29 7 19.4444 CSF3R 0 genome.wustl.edu 37 1 36935323 36935323 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 36935323 36935323 G - DEL CSF3R ENST00000373103 human ensembl 74_37 -1 known frame_shift_del c.1404 p.S469fs 0.425 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 133 0 0 101 14 12.1739 SMAP2 0 genome.wustl.edu 37 1 40878734 40878734 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 40878734 40878734 A - DEL SMAP2 ENST00000372718 human ensembl 74_37 +1 known frame_shift_del c.449 p.K152fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 97 0 0 58 14 19.4444 HIVEP3 0 genome.wustl.edu 37 1 42050006 42050007 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 42050006 42050007 - G INS HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_ins c.463_462 p.E154fs 0.997:0.766 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 136 0 0 125 9 6.71642 SZT2 0 genome.wustl.edu 37 1 43905341 43905341 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 43905341 43905341 C - DEL SZT2 ENST00000562955 human ensembl 74_37 +1 known frame_shift_del c.6772 p.S2260fs 0.994 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 91 0 0 109 14 11.3821 RNF220 0 genome.wustl.edu 37 1 45111159 45111162 + Frame_Shift_Del DEL AAGT AAGT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AAGT AAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 45111159 45111162 AAGT - DEL RNF220 ENST00000355387 human ensembl 74_37 +1 known frame_shift_del c.1444_1445 p.K482fs 1.000:1.000 superfamily_Peptidase_M20_dimer superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 24 0 0 9 5 35.7143 ZCCHC11 0 genome.wustl.edu 37 1 52991780 52991780 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 52991780 52991780 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.173 p.N58fs 0.998 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 124 0 0 77 17 18.0851 C1orf168 0 genome.wustl.edu 37 1 57257958 57257958 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 57257958 57257958 C - DEL C1orf168 ENST00000343433 human ensembl 74_37 -1 known frame_shift_del c.528 p.T178fs 0.000 NULL superfamily_SH3_domain - no_errors C1orf168 HGNC ENSG00000187889 170 0 0 135 14 9.39597 FGGY 0 genome.wustl.edu 37 1 59812017 59812017 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 59812017 59812017 G - DEL FGGY ENST00000303721 human ensembl 74_37 +1 known frame_shift_del c.412 p.V140fs 0.997 pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel pfam_Carb_kinase_FGGY_C,pfam_Carb_kinase_FGGY_N,tigrfam_Carb_kinase_FGGY-rel - no_errors FGGY HGNC ENSG00000172456 66 0 0 43 15 25.8621 GNG12 0 genome.wustl.edu 37 1 68171151 68171151 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 68171151 68171151 T - DEL GNG12 ENST00000370982 human ensembl 74_37 -1 known frame_shift_del c.202 p.T68fs 1.000 smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG12 HGNC ENSG00000172380 145 0 0 87 30 25.641 RPE65 0 genome.wustl.edu 37 1 68910267 68910267 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 68910267 68910267 C - DEL RPE65 ENST00000262340 human ensembl 74_37 -1 known frame_shift_del c.442 p.E148fs 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC ENSG00000116745 133 0 0 108 8 6.89655 LRRIQ3 0 genome.wustl.edu 37 1 74507219 74507220 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 74507219 74507220 - T INS LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known frame_shift_ins c.1396_1395 p.Y465fs 0.000:0.000 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 218 0 0 137 16 10.4575 ASB17 0 genome.wustl.edu 37 1 76387916 76387916 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 76387916 76387916 T - DEL ASB17 ENST00000284142 human ensembl 74_37 -1 known frame_shift_del c.530 p.N177fs 0.996 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 85 0 0 52 14 21.2121 IFI44L 0 genome.wustl.edu 37 1 79101047 79101048 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 79101047 79101048 - A INS IFI44L ENST00000370751 human ensembl 74_37 +1 known frame_shift_ins c.749_750 p.N252fs 0.747:0.234 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors IFI44L HGNC ENSG00000137959 104 0 0 65 11 14.4737 ERRFI1 0 genome.wustl.edu 37 1 8073426 8073426 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 8073426 8073426 A - DEL ERRFI1 ENST00000377482 human ensembl 74_37 -1 known frame_shift_del c.1233 p.F411fs 0.139 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 168 0 0 128 26 16.8831 SPATA1 0 genome.wustl.edu 37 1 84986284 84986284 + RNA DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 84986284 84986284 T - DEL SPATA1 ENST00000370638 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPATA1 HGNC ENSG00000122432 34 0 0 13 5 27.7778 COL24A1 0 genome.wustl.edu 37 1 86283753 86283753 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 86283753 86283753 T - DEL COL24A1 ENST00000370571 human ensembl 74_37 -1 known frame_shift_del c.3807 p.G1270fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 218 0 0 179 12 6.28272 CLCA4 0 genome.wustl.edu 37 1 87026013 87026013 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 87026013 87026013 A - DEL CLCA4 ENST00000370563 human ensembl 74_37 +1 known frame_shift_del c.420 p.K142fs 0.674 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC ENSG00000016602 69 0 0 51 14 21.5385 CDC7 0 genome.wustl.edu 37 1 91973481 91973482 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 91973481 91973482 - A INS CDC7 ENST00000234626 human ensembl 74_37 +1 known frame_shift_ins c.186_187 p.I63fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDC7 HGNC ENSG00000097046 352 0 0 246 21 7.86517 CCDC18 0 genome.wustl.edu 37 1 93667516 93667516 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 93667516 93667516 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.1120 p.V377fs 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 117 1 0.847458 62 11 15.0685 CCDC18 0 genome.wustl.edu 37 1 93720123 93720124 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 93720123 93720124 - A INS CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_ins c.3648_3649 p.E1218fs 1.000:1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 213 0 0 131 11 7.74648 SLC44A3 0 genome.wustl.edu 37 1 95357932 95357932 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 1 95357932 95357932 T - DEL SLC44A3 ENST00000271227 human ensembl 74_37 +1 known frame_shift_del c.1716 p.F574fs 0.782 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A3 HGNC ENSG00000143036 193 1 0.515464 165 12 6.77966 HPSE2 0 genome.wustl.edu 37 10 100401612 100401612 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 100401612 100401612 T - DEL HPSE2 ENST00000370552 human ensembl 74_37 -1 known frame_shift_del c.1090 p.I364fs 1.000 pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC ENSG00000172987 317 0 0 240 17 6.61479 PAX2 0 genome.wustl.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 102587324 102587324 C - DEL PAX2 ENST00000428433 human ensembl 74_37 +1 known frame_shift_del c.1202 p.R403fs 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 107 0 0 77 16 17.2043 BTRC 0 genome.wustl.edu 37 10 103298049 103298050 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103298049 103298050 - A INS BTRC ENST00000370187 human ensembl 74_37 +1 known frame_shift_ins c.1579_1578 p.I529fs 1.000:0.928 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 143 0 0 107 7 6.14035 ELOVL3 0 genome.wustl.edu 37 10 103988776 103988776 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 103988776 103988776 C - DEL ELOVL3 ENST00000370005 human ensembl 74_37 +1 known frame_shift_del c.580 p.K196fs 0.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL3 HGNC ENSG00000119915 66 0 0 50 16 24.2424 NRAP 0 genome.wustl.edu 37 10 115348832 115348832 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115348832 115348832 C - DEL NRAP ENST00000369358 human ensembl 74_37 -1 known frame_shift_del c.5119 p.A1707fs 0.001 NULL pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 79 0 0 63 14 18.1818 DCLRE1A 0 genome.wustl.edu 37 10 115602115 115602116 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115602115 115602116 - T INS DCLRE1A ENST00000361384 human ensembl 74_37 -1 known frame_shift_ins c.2652_2651 p.K885fs 1.000:1.000 NULL pfam_DRMBL - no_errors DCLRE1A HGNC ENSG00000198924 179 0 0 118 16 11.9403 NHLRC2 0 genome.wustl.edu 37 10 115662308 115662308 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 115662308 115662308 A - DEL NHLRC2 ENST00000369301 human ensembl 74_37 +1 known frame_shift_del c.1450 p.R486fs 0.833 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 213 0 0 139 13 8.55263 PDZD8 0 genome.wustl.edu 37 10 119042898 119042898 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 119042898 119042898 T - DEL PDZD8 ENST00000334464 human ensembl 74_37 -1 known frame_shift_del c.3346 p.I1116fs 0.572 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 130 0 0 90 9 9.09091 UPF2 0 genome.wustl.edu 37 10 12056070 12056070 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 12056070 12056070 A - DEL UPF2 ENST00000356352 human ensembl 74_37 -1 known frame_shift_del c.1259 p.L420fs 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 98 0 0 100 7 6.54206 INPP5F 0 genome.wustl.edu 37 10 121571462 121571462 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 121571462 121571462 C - DEL INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_del c.1881 p.P628fs 0.996 pfam_Inositol_phosphatase pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 97 0 0 66 8 10.8108 CUZD1 0 genome.wustl.edu 37 10 124600721 124600722 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 124600721 124600722 - T INS CUZD1 ENST00000368904 human ensembl 74_37 -1 known frame_shift_ins c.206_205 p.S69fs 0.814:0.979 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC ENSG00000138161 102 0 0 88 14 13.7255 MKI67 0 genome.wustl.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 129913974 129913974 T - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.698 p.N233fs 0.003 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 83 0 0 57 15 20.8333 EBF3 0 genome.wustl.edu 37 10 131666125 131666125 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 131666125 131666125 C - DEL EBF3 ENST00000355311 human ensembl 74_37 -1 known frame_shift_del c.833 p.G278fs 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 71 0 0 51 9 15 C10orf111 0 genome.wustl.edu 37 10 15138584 15138585 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 15138584 15138585 - C INS C10orf111 ENST00000378207 human ensembl 74_37 -1 known frame_shift_ins c.240_239 p.Q81fs 0.000:0.000 NULL NULL - no_errors C10orf111 HGNC ENSG00000176236 142 0 0 115 19 14.1791 FAM171A1 0 genome.wustl.edu 37 10 15255494 15255494 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 15255494 15255494 C - DEL FAM171A1 ENST00000378116 human ensembl 74_37 -1 known frame_shift_del c.2093 p.G698fs 0.999 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 109 0 0 109 22 16.7939 CUBN 0 genome.wustl.edu 37 10 17113554 17113554 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 17113554 17113554 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.2496 p.P833fs 0.996 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 121 0 0 71 18 20.2247 CUBN 0 genome.wustl.edu 37 10 17171226 17171227 + Frame_Shift_Ins INS - - CT TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 17171226 17171227 - CT INS CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_ins c.146_145 p.G49fs 1.000:1.000 NULL pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 135 0 0 74 18 19.5652 ST8SIA6 0 genome.wustl.edu 37 10 17363321 17363321 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 17363321 17363321 T - DEL ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known frame_shift_del c.753 p.A252fs 0.024 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 75 0 0 43 9 17.3077 PLXDC2 0 genome.wustl.edu 37 10 20357165 20357165 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 20357165 20357165 G - DEL PLXDC2 ENST00000377252 human ensembl 74_37 +1 known frame_shift_del c.538 p.G181fs 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 65 0 0 51 10 16.3934 C10orf113 0 genome.wustl.edu 37 10 21435307 21435308 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 21435307 21435308 - A INS C10orf113 ENST00000534331 human ensembl 74_37 -1 known frame_shift_ins c.131_130 p.S44fs 0.010:0.000 NULL NULL - no_errors C10orf113 HGNC ENSG00000204683 126 0 0 91 9 9 ANKRD26 0 genome.wustl.edu 37 10 27337805 27337806 + In_Frame_Ins INS - - CAT TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27337805 27337806 - CAT INS ANKRD26 ENST00000436985 human ensembl 74_37 -1 known in_frame_ins c.1787_1786 p.596in_frame_insD 0.005:0.004 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 95 0 0 51 14 21.5385 MASTL 0 genome.wustl.edu 37 10 27459272 27459272 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27459272 27459272 A - DEL MASTL ENST00000375940 human ensembl 74_37 +1 known frame_shift_del c.1384 p.T464fs 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 MASTL HGNC ENSG00000120539 60 0 0 44 10 18.5185 PTCHD3 0 genome.wustl.edu 37 10 27687763 27687763 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27687763 27687763 A - DEL PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_del c.1764 p.F588fs 0.992 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 72 0 0 53 10 15.873 PTCHD3 0 genome.wustl.edu 37 10 27702950 27702951 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 27702950 27702951 - G INS PTCHD3 ENST00000438700 human ensembl 74_37 -1 known frame_shift_ins c.230_229 p.R77fs 0.000:0.000 NULL pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 43 0 0 52 11 17.4603 PFKP 0 genome.wustl.edu 37 10 3172105 3172106 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 3172105 3172106 - G INS PFKP ENST00000381125 human ensembl 74_37 +1 known frame_shift_ins c.1778_1779 p.L596fs 1.000:1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 71 0 0 65 13 16.6667 PITRM1 0 genome.wustl.edu 37 10 3200265 3200266 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 3200265 3200266 - T INS PITRM1 ENST00000380989 human ensembl 74_37 -1 known frame_shift_ins c.1217_1216 p.S406fs 0.034:0.042 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 73 0 0 65 10 13.3333 KIF5B 0 genome.wustl.edu 37 10 32323676 32323677 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 32323676 32323677 - T INS KIF5B ENST00000302418 human ensembl 74_37 -1 known frame_shift_ins c.1053_1052 p.N351fs 1.000:1.000 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 108 0 0 77 5 6.09756 PARD3 0 genome.wustl.edu 37 10 34671501 34671501 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 34671501 34671501 T - DEL PARD3 ENST00000374789 human ensembl 74_37 -1 known frame_shift_del c.1366 p.I456fs 0.956 superfamily_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 137 0 0 120 7 5.51181 ZNF37A 0 genome.wustl.edu 37 10 38406967 38406967 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 38406967 38406967 A - DEL ZNF37A ENST00000351773 human ensembl 74_37 +1 known frame_shift_del c.888 p.K297fs 0.714 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 ZNF37A HGNC ENSG00000075407 133 0 0 91 9 9 BMS1 0 genome.wustl.edu 37 10 43280948 43280948 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 43280948 43280948 A - DEL BMS1 ENST00000374518 human ensembl 74_37 +1 known frame_shift_del c.195 p.K67fs 0.891 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 124 0 0 83 19 18.6275 ALOX5 0 genome.wustl.edu 37 10 45941070 45941072 + In_Frame_Del DEL AAG AAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 45941070 45941072 AAG - DEL ALOX5 ENST00000374391 human ensembl 74_37 +1 known in_frame_del c.1960_1962 p.K656in_frame_del 1.000:1.000:1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 113 0 0 99 14 12.3894 NPY4R 0 genome.wustl.edu 37 10 47087814 47087814 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 47087814 47087814 C - DEL NPY4R ENST00000374312 human ensembl 74_37 +1 known frame_shift_del c.1031 p.L346fs 0.001 prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 124 0 0 103 16 13.4454 RTKN2 0 genome.wustl.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 63958149 63958149 T - DEL RTKN2 ENST00000373789 human ensembl 74_37 -1 known frame_shift_del c.1348 p.I450fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 131 0 0 58 17 22.6667 MYPN 0 genome.wustl.edu 37 10 69961687 69961687 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 69961687 69961687 C - DEL MYPN ENST00000358913 human ensembl 74_37 +1 known frame_shift_del c.3595 p.P1200fs 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 123 0 0 105 8 7.07965 TET1 0 genome.wustl.edu 37 10 70332152 70332153 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 70332152 70332153 - A INS TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_ins c.57_58 p.K22fs 0.811:0.855 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 57 0 0 41 5 10.8696 ZSWIM8 0 genome.wustl.edu 37 10 75560464 75560464 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 75560464 75560464 C - DEL ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known frame_shift_del c.5093 p.Y1701fs 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 86 0 0 67 21 23.8636 KAT6B 0 genome.wustl.edu 37 10 76735770 76735770 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 76735770 76735770 A - DEL KAT6B ENST00000287239 human ensembl 74_37 +1 known frame_shift_del c.1675 p.K560fs 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 105 0 0 94 21 18.2609 MBL1P 0 genome.wustl.edu 37 10 81680656 81680656 + RNA DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 81680656 81680656 A - DEL MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MBL1P HGNC ENSG00000242600 9 0 0 0 8 100 PTEN 0 genome.wustl.edu 37 10 89653796 89653798 + In_Frame_Del DEL ATT ATT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89653796 89653798 ATT - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known in_frame_del c.94_96 p.I33in_frame_del 1.000:1.000:1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 119 0 0 65 8 10.9589 PTEN 0 genome.wustl.edu 37 10 89720812 89720812 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 89720812 89720812 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.963 p.N323fs 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 189 0 0 93 22 19.1304 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 119 0 0 74 10 11.9048 CC2D2B 0 genome.wustl.edu 37 10 97772379 97772380 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 97772379 97772380 - T INS CC2D2B ENST00000410012 human ensembl 74_37 +1 known frame_shift_ins c.211_212 p.N73fs 1.000:1.000 NULL NULL - no_errors CC2D2B HGNC ENSG00000188649 119 0 0 93 5 5.10204 C10orf12 0 genome.wustl.edu 37 10 98742635 98742636 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 10 98742635 98742636 - A INS C10orf12 ENST00000286067 human ensembl 74_37 +1 known frame_shift_ins c.1488_1489 p.F498fs 0.065:0.968 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 117 0 0 84 15 15.1515 TRPC6 0 genome.wustl.edu 37 11 101324444 101324444 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 101324444 101324444 T - DEL TRPC6 ENST00000344327 human ensembl 74_37 -1 known frame_shift_del c.2581 p.R861fs 1.000 superfamily_ARM-type_fold,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,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 86 0 0 77 13 14.4444 MUC6 0 genome.wustl.edu 37 11 1016000 1016001 + Frame_Shift_Ins INS - - TGAGA TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1016000 1016001 - TGAGA INS MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_ins c.6801_6800 p.Q2267fs 0.016:0.021 NULL 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 252 0 0 212 24 10.1695 CASP5 0 genome.wustl.edu 37 11 104879687 104879688 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 104879687 104879688 - G INS CASP5 ENST00000393141 human ensembl 74_37 -1 known frame_shift_ins c.67_66 p.R22fs 0.000:0.000 NULL pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP5 HGNC ENSG00000137757 88 0 0 66 10 13.1579 ATM 0 genome.wustl.edu 37 11 108159797 108159797 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 108159797 108159797 A - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.4203 p.S1403fs 0.201 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 82 0 0 42 12 22.2222 ATM 0 genome.wustl.edu 37 11 108164163 108164164 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 108164163 108164164 - A INS ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_ins c.4735_4736 p.I1581fs 1.000:1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 261 0 0 172 14 7.52688 DDX10 0 genome.wustl.edu 37 11 108709229 108709229 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 108709229 108709229 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.2022 p.V677fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 198 0 0 111 14 11.2 DLAT 0 genome.wustl.edu 37 11 111904183 111904183 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 111904183 111904183 A - DEL DLAT ENST00000280346 human ensembl 74_37 +1 known frame_shift_del c.716 p.V242fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_LAT1 pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 98 0 0 60 10 14.2857 C11orf57 0 genome.wustl.edu 37 11 111953289 111953289 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 111953289 111953289 A - DEL C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_del c.475 p.K161fs 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 71 0 0 33 28 45.9016 NNMT 0 genome.wustl.edu 37 11 114183046 114183046 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 114183046 114183046 C - DEL NNMT ENST00000299964 human ensembl 74_37 +1 known frame_shift_del c.642 p.L216fs 0.427 pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans - no_errors NNMT HGNC ENSG00000166741 103 0 0 82 9 9.89011 CEP164 0 genome.wustl.edu 37 11 117280511 117280511 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 117280511 117280511 C - DEL CEP164 ENST00000278935 human ensembl 74_37 +1 known frame_shift_del c.3926 p.T1311fs 0.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 145 0 0 150 11 6.8323 KMT2A 0 genome.wustl.edu 37 11 118373611 118373611 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 118373611 118373611 C - DEL KMT2A ENST00000389506 human ensembl 74_37 +1 known frame_shift_del c.6995 p.P2333fs 0.037 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 249 0 0 225 15 6.25 MFRP 0 genome.wustl.edu 37 11 119213688 119213688 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 119213688 119213688 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.1150 p.H384fs 0.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 19 0 0 10 3 23.0769 NCAPD3 0 genome.wustl.edu 37 11 134048586 134048586 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 134048586 134048586 G - DEL NCAPD3 ENST00000534548 human ensembl 74_37 -1 known frame_shift_del c.2725 p.Q909fs 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 124 1 0.8 89 6 6.31579 GLB1L2 0 genome.wustl.edu 37 11 134226203 134226204 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 134226203 134226204 - G INS GLB1L2 ENST00000339772 human ensembl 74_37 +1 known frame_shift_ins c.567_568 p.P191fs 0.106:0.800 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 263 0 0 223 15 6.30252 GLB1L2 0 genome.wustl.edu 37 11 134244918 134244918 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 134244918 134244918 C - DEL GLB1L2 ENST00000339772 human ensembl 74_37 +1 known frame_shift_del c.1877 p.H628fs 0.018 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L2 HGNC ENSG00000149328 23 0 0 20 7 25.9259 SOX6 0 genome.wustl.edu 37 11 16010610 16010611 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 16010610 16010611 - T INS SOX6 ENST00000352083 human ensembl 74_37 -1 known frame_shift_ins c.1899_1898 p.D634fs 1.000:1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 275 0 0 233 18 7.17131 CTSD 0 genome.wustl.edu 37 11 1780829 1780830 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 1780829 1780830 - G INS CTSD ENST00000236671 human ensembl 74_37 -1 known frame_shift_ins c.269_268 p.Q90fs 1.000:0.999 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 56 0 0 46 9 16.3636 NAV2 0 genome.wustl.edu 37 11 19970371 19970371 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 19970371 19970371 C - DEL NAV2 ENST00000396087 human ensembl 74_37 +1 known frame_shift_del c.2459 p.S822fs 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 59 0 0 55 7 11.2903 SLC6A5 0 genome.wustl.edu 37 11 20625905 20625906 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 20625905 20625906 - G INS SLC6A5 ENST00000525748 human ensembl 74_37 +1 known frame_shift_ins c.614_615 p.Y207fs 1.000:1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC ENSG00000165970 134 0 0 133 9 6.33803 RPL26P30 0 genome.wustl.edu 37 11 2356628 2356628 + RNA DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 2356628 2356628 T - DEL RPL26P30 ENST00000602923 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL26P30 HGNC ENSG00000236264 130 0 0 93 28 23.1405 LUZP2 0 genome.wustl.edu 37 11 25100135 25100136 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 25100135 25100136 - A INS LUZP2 ENST00000336930 human ensembl 74_37 +1 known frame_shift_ins c.972_973 p.A326fs 0.000:0.006 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 145 0 0 100 6 5.66038 DNAJC24 0 genome.wustl.edu 37 11 31436468 31436468 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 31436468 31436468 A - DEL DNAJC24 ENST00000465995 human ensembl 74_37 +1 known frame_shift_del c.222 p.R76fs 0.617 pfam_DnaJ_domain,superfamily_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,pfam_Znf_DHP,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_Znf_DHP,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC24 HGNC ENSG00000170946 44 0 0 28 9 24.3243 CCDC73 0 genome.wustl.edu 37 11 32635181 32635181 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 32635181 32635181 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.2683 p.T895fs 1.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 222 1 0.44843 133 35 20.8333 CSTF3 0 genome.wustl.edu 37 11 33124702 33124703 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 33124702 33124703 - T INS CSTF3 ENST00000323959 human ensembl 74_37 -1 known frame_shift_ins c.614_613 p.M205fs 1.000:1.000 NULL pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 85 0 0 58 9 13.4328 PDHX 0 genome.wustl.edu 37 11 34988311 34988311 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 34988311 34988311 C - DEL PDHX ENST00000227868 human ensembl 74_37 +1 known frame_shift_del c.766 p.R257fs 0.990 NULL pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC ENSG00000110435 101 0 0 98 16 14.0351 ART1 0 genome.wustl.edu 37 11 3681478 3681478 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 3681478 3681478 C - DEL ART1 ENST00000250693 human ensembl 74_37 +1 known frame_shift_del c.729 p.F246fs 0.999 pfam_ART,prints_ART pfam_ART,prints_ART - no_errors ART1 HGNC ENSG00000129744 81 0 0 58 16 21.6216 OR52K1 0 genome.wustl.edu 37 11 4510704 4510704 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4510704 4510704 G - DEL OR52K1 ENST00000307632 human ensembl 74_37 +1 known frame_shift_del c.574 p.D193fs 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52K1 HGNC ENSG00000196778 161 0 0 124 21 14.4828 PRDM11 0 genome.wustl.edu 37 11 45204460 45204461 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 45204460 45204461 - C INS PRDM11 ENST00000263765 human ensembl 74_37 +1 known frame_shift_ins c.374_375 p.V128fs 1.000:0.921 NULL pfscan_SET_dom - no_errors PRDM11 HGNC ENSG00000019485 92 0 0 96 12 11.1111 GYLTL1B 0 genome.wustl.edu 37 11 45948373 45948373 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 45948373 45948373 C - DEL GYLTL1B ENST00000325468 human ensembl 74_37 +1 known frame_shift_del c.1276 p.R428fs 0.023 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 50 0 0 35 7 16.6667 OR51E1 0 genome.wustl.edu 37 11 4674217 4674217 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 4674217 4674217 G - DEL OR51E1 ENST00000396952 human ensembl 74_37 +1 known frame_shift_del c.461 p.A156fs 0.966 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E1 HGNC ENSG00000180785 112 0 0 105 20 16 OR4C12 0 genome.wustl.edu 37 11 50003722 50003723 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 50003722 50003723 - A INS OR4C12 ENST00000335238 human ensembl 74_37 -1 known frame_shift_ins c.316_315 p.G105fs 0.960:0.958 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4C12 HGNC ENSG00000221954 241 0 0 166 12 6.74157 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 59 0 0 42 7 14.2857 OR5D14 0 genome.wustl.edu 37 11 55563619 55563619 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55563619 55563619 C - DEL OR5D14 ENST00000335605 human ensembl 74_37 +1 known frame_shift_del c.588 p.H198fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D14 HGNC ENSG00000186113 235 0 0 170 39 18.6603 OR8I2 0 genome.wustl.edu 37 11 55861308 55861308 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55861308 55861308 T - DEL OR8I2 ENST00000302124 human ensembl 74_37 +1 known frame_shift_del c.525 p.C178fs 0.881 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 OR8I2 HGNC ENSG00000172154 163 0 0 127 33 20.625 OR8J3 0 genome.wustl.edu 37 11 55904662 55904663 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 55904662 55904663 - A INS OR8J3 ENST00000301529 human ensembl 74_37 -1 known frame_shift_ins c.533_532 p.Y178fs 0.130:0.125 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 OR8J3 HGNC ENSG00000167822 137 0 0 85 6 6.59341 OR5M3 0 genome.wustl.edu 37 11 56237709 56237709 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 56237709 56237709 T - DEL OR5M3 ENST00000312240 human ensembl 74_37 -1 known frame_shift_del c.265 p.T89fs 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M3 HGNC ENSG00000174937 88 0 0 64 8 11.1111 TRIM5 0 genome.wustl.edu 37 11 5687267 5687267 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 5687267 5687267 T - DEL TRIM5 ENST00000305836 human ensembl 74_37 -1 known frame_shift_del c.812 p.N271fs 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 127 0 0 67 18 21.1765 ZDHHC5 0 genome.wustl.edu 37 11 57466855 57466857 + In_Frame_Del DEL AGA AGA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 57466855 57466857 AGA - DEL ZDHHC5 ENST00000287169 human ensembl 74_37 +1 known in_frame_del c.1947_1949 p.E651in_frame_del 0.122:0.994:1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC5 HGNC ENSG00000156599 95 0 0 64 15 18.9873 FAM111B 0 genome.wustl.edu 37 11 58893474 58893477 + Frame_Shift_Del DEL ACAC ACAC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 ACAC ACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 58893474 58893477 ACAC - DEL FAM111B ENST00000343597 human ensembl 74_37 +1 known frame_shift_del c.1904_1907 p.H637fs 0.000:0.000:0.000:0.000 superfamily_Trypsin-like_Pept_dom superfamily_Trypsin-like_Pept_dom - no_errors FAM111B HGNC ENSG00000189057 87 0 0 84 9 9.67742 SLC22A6 0 genome.wustl.edu 37 11 62749334 62749334 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 62749334 62749334 A - DEL SLC22A6 ENST00000377871 human ensembl 74_37 -1 known frame_shift_del c.777 p.F259fs 0.986 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 24 0 0 21 6 22.2222 CCKBR 0 genome.wustl.edu 37 11 6292586 6292587 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6292586 6292587 - C INS CCKBR ENST00000525462 human ensembl 74_37 +1 known frame_shift_ins c.1364_1365 p.L457fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 85 0 0 106 8 7.01754 RARRES3 0 genome.wustl.edu 37 11 63313709 63313709 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 63313709 63313709 A - DEL RARRES3 ENST00000255688 human ensembl 74_37 +1 known frame_shift_del c.476 p.A162fs 0.001 NULL pfam_LRAT-like_dom - no_errors RARRES3 HGNC ENSG00000133321 191 0 0 145 15 9.375 ATL3 0 genome.wustl.edu 37 11 63411656 63411657 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 63411656 63411657 - A INS ATL3 ENST00000332645 human ensembl 74_37 -1 known frame_shift_ins c.777_776 p.L259fs 1.000:1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors ATL3 HGNC ENSG00000184743 184 0 0 150 12 7.40741 VEGFB 0 genome.wustl.edu 37 11 64004663 64004663 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64004663 64004663 A - DEL VEGFB ENST00000309422 human ensembl 74_37 +1 known frame_shift_del c.379 p.K129fs 1.000 pfscan_PDGF/VEGF_dom pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFB HGNC ENSG00000173511 139 0 0 103 21 16.9355 RASGRP2 0 genome.wustl.edu 37 11 64508388 64508388 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64508388 64508388 C - DEL RASGRP2 ENST00000377486 human ensembl 74_37 -1 putative frame_shift_del c.403 p.A135fs 0.001 NULL pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 47 0 0 32 8 20 PYGM 0 genome.wustl.edu 37 11 64525745 64525745 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64525745 64525745 A - DEL PYGM ENST00000164139 human ensembl 74_37 -1 known frame_shift_del c.501 p.F167fs 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGM HGNC ENSG00000068976 150 0 0 135 13 8.78378 SNX15 0 genome.wustl.edu 37 11 64802996 64802996 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 64802996 64802996 C - DEL SNX15 ENST00000377244 human ensembl 74_37 +1 known frame_shift_del c.525 p.P177fs 0.044 NULL pfam_MIT,pfam_Phox,superfamily_Phox,smart_Phox,smart_MIT,pfscan_Phox - no_errors SNX15 HGNC ENSG00000110025 199 0 0 193 35 15.3509 FIBP 0 genome.wustl.edu 37 11 65653077 65653077 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 65653077 65653077 T - DEL FIBP ENST00000338369 human ensembl 74_37 -1 known frame_shift_del c.570 p.K190fs 1.000 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 155 0 0 141 10 6.62252 MRPL17 0 genome.wustl.edu 37 11 6703476 6703481 + In_Frame_Del DEL GGCAGG GGCAGG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GGCAGG GGCAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 6703476 6703481 GGCAGG - DEL MRPL17 ENST00000288937 human ensembl 74_37 -1 known in_frame_del c.401_396 p.LP135in_frame_del 0.797:0.820:0.833:1.000:1.000:0.994 NULL pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17 - no_errors MRPL17 HGNC ENSG00000158042 116 0 0 87 13 13 NADSYN1 0 genome.wustl.edu 37 11 71192428 71192429 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71192428 71192429 - T INS NADSYN1 ENST00000319023 human ensembl 74_37 +1 known frame_shift_ins c.1025_1026 p.L344fs 0.996:0.280 pfam_NAD/GMP_synthase,pirsf_Gln-dep_NAD_synthase,tigrfam_NAD_synthase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 179 0 0 126 9 6.66667 ENSG00000255157 0 genome.wustl.edu 37 11 71574635 71574635 + RNA DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71574635 71574635 A - DEL ENSG00000255157 ENST00000528518 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2313N18.8 Clone_based_vega_gene ENSG00000255157 320 1 0.311526 242 13 5.09804 INPPL1 0 genome.wustl.edu 37 11 71946764 71946764 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 71946764 71946764 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.2705 p.S904fs 0.501 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 87 0 0 73 9 10.9756 PRKRIR 0 genome.wustl.edu 37 11 76062235 76062235 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 76062235 76062235 C - DEL PRKRIR ENST00000260045 human ensembl 74_37 -1 known frame_shift_del c.1959 p.D655fs 0.964 pfam_HATC_dom_C,superfamily_RNaseH-like_dom pfam_Znf_C2CH,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors PRKRIR HGNC ENSG00000137492 182 0 0 168 9 5.08475 OVCH2 0 genome.wustl.edu 37 11 7718081 7718081 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7718081 7718081 A - DEL OVCH2 ENST00000454689 human ensembl 74_37 -1 known frame_shift_del c.1072 p.S358fs 0.204 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_CUB_dom,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 OVCH2 HGNC ENSG00000183378 84 0 0 85 6 6.59341 AQP11 0 genome.wustl.edu 37 11 77301286 77301288 + In_Frame_Del DEL CTT CTT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77301286 77301288 CTT - DEL AQP11 ENST00000313578 human ensembl 74_37 +1 known in_frame_del c.249_251 p.F85in_frame_del 1.000:1.000:1.000 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_11,prints_MIP - no_errors AQP11 HGNC ENSG00000178301 51 0 0 49 9 15.5172 USP35 0 genome.wustl.edu 37 11 77911710 77911710 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 77911710 77911710 C - DEL USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_del c.1053 p.M354fs 0.969 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 23 0 0 26 6 18.75 NLRP10 0 genome.wustl.edu 37 11 7981836 7981836 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 7981836 7981836 G - DEL NLRP10 ENST00000328600 human ensembl 74_37 -1 known frame_shift_del c.1323 p.R442fs 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 167 0 0 162 13 7.42857 CCDC81 0 genome.wustl.edu 37 11 86097108 86097108 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 86097108 86097108 G - DEL CCDC81 ENST00000445632 human ensembl 74_37 +1 known frame_shift_del c.95 p.N34fs 1.000 superfamily_IHF-like_DNA-bd_dom superfamily_IHF-like_DNA-bd_dom - no_errors CCDC81 HGNC ENSG00000149201 71 0 0 48 8 14.2857 DENND5A 0 genome.wustl.edu 37 11 9225449 9225449 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 9225449 9225449 G - DEL DENND5A ENST00000328194 human ensembl 74_37 -1 known frame_shift_del c.707 p.P236fs 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5A HGNC ENSG00000184014 52 0 0 57 12 17.3913 AMOTL1 0 genome.wustl.edu 37 11 94597954 94597956 + In_Frame_Del DEL GGA GGA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 11 94597954 94597956 GGA - DEL AMOTL1 ENST00000433060 human ensembl 74_37 +1 known in_frame_del c.2190_2192 p.E731in_frame_del 1.000:1.000:1.000 pfam_Angiomotin_C pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 125 0 0 103 14 11.9658 ANO4 0 genome.wustl.edu 37 12 101295596 101295596 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 101295596 101295596 A - DEL ANO4 ENST00000392977 human ensembl 74_37 +1 known frame_shift_del c.33 p.T13fs 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 141 0 0 104 17 14.0496 UTP20 0 genome.wustl.edu 37 12 101779776 101779776 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 101779776 101779776 A - DEL UTP20 ENST00000261637 human ensembl 74_37 +1 known frame_shift_del c.8233 p.M2747fs 1.000 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 130 0 0 91 13 12.5 CHPT1 0 genome.wustl.edu 37 12 102108338 102108338 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 102108338 102108338 T - DEL CHPT1 ENST00000229266 human ensembl 74_37 +1 known frame_shift_del c.478 p.F162fs 0.989 pfam_CDP-OH_P_trans,pirsf_CHOPT pfam_CDP-OH_P_trans,pirsf_CHOPT - no_errors CHPT1 HGNC ENSG00000111666 119 0 0 74 10 11.9048 GNPTAB 0 genome.wustl.edu 37 12 102158002 102158002 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 102158002 102158002 T - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_del c.2693 p.K898fs 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 225 0 0 158 17 9.71429 GNPTAB 0 genome.wustl.edu 37 12 102158708 102158708 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 102158708 102158708 C - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_del c.1987 p.E663fs 0.296 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 109 0 0 72 8 10 HCFC2 0 genome.wustl.edu 37 12 104476535 104476535 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 104476535 104476535 A - DEL HCFC2 ENST00000229330 human ensembl 74_37 +1 known frame_shift_del c.919 p.N309fs 1.000 NULL pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors HCFC2 HGNC ENSG00000111727 110 0 0 49 15 23.4375 ACACB 0 genome.wustl.edu 37 12 109604775 109604775 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 109604775 109604775 G - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known frame_shift_del c.763 p.D257fs 1.000 superfamily_PreATP-grasp_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 74 0 0 70 17 19.5402 PPTC7 0 genome.wustl.edu 37 12 110977634 110977634 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 110977634 110977634 T - DEL PPTC7 ENST00000354300 human ensembl 74_37 -1 known frame_shift_del c.719 p.K240fs 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPTC7 HGNC ENSG00000196850 85 0 0 47 14 22.9508 PPP1CC 0 genome.wustl.edu 37 12 111160421 111160423 + In_Frame_Del DEL AAG AAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 111160421 111160423 AAG - DEL PPP1CC ENST00000340766 human ensembl 74_37 -1 known in_frame_del c.603_601 p.L201in_frame_del 1.000:1.000:1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC ENSG00000186298 92 0 0 65 16 19.7531 CCDC60 0 genome.wustl.edu 37 12 119968733 119968734 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 119968733 119968734 - A INS CCDC60 ENST00000327554 human ensembl 74_37 +1 known frame_shift_ins c.1416_1417 p.I474fs 0.996:0.988 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 147 0 0 108 7 6.08696 LRRC43 0 genome.wustl.edu 37 12 122685346 122685346 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 122685346 122685346 C - DEL LRRC43 ENST00000339777 human ensembl 74_37 +1 known frame_shift_del c.1674 p.I561fs 0.997 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 85 0 0 78 8 9.30233 ABCB9 0 genome.wustl.edu 37 12 123424729 123424729 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 123424729 123424729 G - DEL ABCB9 ENST00000442028 human ensembl 74_37 -1 known frame_shift_del c.1672 p.L558fs 0.996 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB9 HGNC ENSG00000150967 35 0 0 38 14 26.9231 CCDC92 0 genome.wustl.edu 37 12 124422018 124422019 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 124422018 124422019 - G INS CCDC92 ENST00000238156 human ensembl 74_37 -1 known frame_shift_ins c.583_582 p.K194fs 1.000:1.000 NULL NULL - no_errors CCDC92 HGNC ENSG00000119242 71 0 0 72 7 8.86076 SCARB1 0 genome.wustl.edu 37 12 125267351 125267352 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 125267351 125267352 - T INS SCARB1 ENST00000261693 human ensembl 74_37 -1 known frame_shift_ins c.1408_1407 p.C469fs 0.891:0.269 NULL pfam_CD36,prints_CD36,prints_CD36_antigen - no_errors SCARB1 HGNC ENSG00000073060 80 0 0 64 9 12.3288 GPR133 0 genome.wustl.edu 37 12 131466442 131466442 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 131466442 131466442 T - DEL GPR133 ENST00000261654 human ensembl 74_37 +1 known frame_shift_del c.324 p.F110fs 0.306 superfamily_ConA-like_lec_gl_sf pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 166 0 0 124 14 10.1449 PDE3A 0 genome.wustl.edu 37 12 20522723 20522723 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 20522723 20522723 G - DEL PDE3A ENST00000359062 human ensembl 74_37 +1 known frame_shift_del c.505 p.E171fs 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 43 0 0 45 8 15.0943 SLCO1C1 0 genome.wustl.edu 37 12 20890197 20890197 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 20890197 20890197 A - DEL SLCO1C1 ENST00000381552 human ensembl 74_37 +1 known frame_shift_del c.1539 p.N515fs 0.985 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO1C1 HGNC ENSG00000139155 88 0 0 76 5 6.17284 SLCO1B7 0 genome.wustl.edu 37 12 21196423 21196423 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 21196423 21196423 T - DEL SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known frame_shift_del c.883 p.L296fs 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 89 0 0 53 5 8.62069 ST8SIA1 0 genome.wustl.edu 37 12 22486986 22486986 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 22486986 22486986 C - DEL ST8SIA1 ENST00000396037 human ensembl 74_37 -1 known frame_shift_del c.181 p.V61fs 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA1 HGNC ENSG00000111728 89 0 0 94 6 6 LINC00477 0 genome.wustl.edu 37 12 24736562 24736562 + RNA DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 24736562 24736562 A - DEL LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.301 - - - no_errors LINC00477 HGNC ENSG00000197503 78 0 0 70 7 9.09091 IPO8 0 genome.wustl.edu 37 12 30822191 30822192 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 30822191 30822192 - A INS IPO8 ENST00000256079 human ensembl 74_37 -1 known frame_shift_ins c.1070_1069 p.S357fs 1.000:1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 132 0 0 83 7 7.77778 ALG10 0 genome.wustl.edu 37 12 34178860 34178860 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 34178860 34178860 T - DEL ALG10 ENST00000266483 human ensembl 74_37 +1 known frame_shift_del c.432 p.F146fs 1.000 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 232 0 0 142 22 13.4146 KIF21A 0 genome.wustl.edu 37 12 39733972 39733972 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 39733972 39733972 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.2305 p.T769fs 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 81 0 0 38 12 24 KIF21A 0 genome.wustl.edu 37 12 39745580 39745580 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 39745580 39745580 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.1672 p.R558fs 1.000 superfamily_ARM-type_fold pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 69 0 0 49 8 14.0351 LRRK2 0 genome.wustl.edu 37 12 40688654 40688654 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 40688654 40688654 T - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.2816 p.F940fs 0.837 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 63 0 0 35 8 18.6047 KDM5A 0 genome.wustl.edu 37 12 432249 432249 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 432249 432249 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.2274 p.D759fs 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 115 0 0 78 7 8.23529 ARID2 0 genome.wustl.edu 37 12 46231159 46231160 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46231159 46231160 - A INS ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_ins c.1079_1080 p.C362fs 1.000:1.000 superfamily_ARM-type_fold pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 187 0 0 115 11 8.73016 ARID2 0 genome.wustl.edu 37 12 46243991 46243992 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 46243991 46243992 - C INS ARID2 ENST00000334344 human ensembl 74_37 +1 known frame_shift_ins c.2085_2086 p.Q695fs 0.998:1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 174 0 0 120 8 6.25 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 56 0 0 48 14 22.5806 KMT2D 0 genome.wustl.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 49445525 49445526 - G INS KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_ins c.1941_1940 p.P648fs 0.000:0.001 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 56 0 0 51 18 26.087 PRPF40B 0 genome.wustl.edu 37 12 50025258 50025258 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 50025258 50025258 C - DEL PRPF40B ENST00000548825 human ensembl 74_37 +1 known frame_shift_del c.159 p.M56fs 0.994 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors PRPF40B HGNC ENSG00000110844 80 0 0 75 22 22.6804 KRT83 0 genome.wustl.edu 37 12 52714895 52714895 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52714895 52714895 C - DEL KRT83 ENST00000293670 human ensembl 74_37 -1 known frame_shift_del c.225 p.C76fs 0.908 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 100 0 0 92 7 7.07071 KRT72 0 genome.wustl.edu 37 12 52985414 52985415 + Splice_Site INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 52985414 52985415 - G INS KRT72 ENST00000293745 human ensembl 74_37 -1 known splice_site_ins c.799-3_799-2 e5-2 1.000:0.760 - - - no_errors KRT72 HGNC ENSG00000170486 84 0 0 78 8 9.30233 OR6C75 0 genome.wustl.edu 37 12 55759486 55759486 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 55759486 55759486 T - DEL OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_del c.592 p.L200fs 0.582 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 OR6C75 HGNC ENSG00000187857 135 0 0 100 15 13.0435 COQ10A 0 genome.wustl.edu 37 12 56661678 56661678 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 56661678 56661678 C - DEL COQ10A ENST00000308197 human ensembl 74_37 +1 known frame_shift_del c.235 p.F80fs 1.000 NULL pfam_Polyket_cyc - no_errors COQ10A HGNC ENSG00000135469 179 0 0 174 13 6.95187 VWF 0 genome.wustl.edu 37 12 6091141 6091143 + In_Frame_Del DEL CTC CTC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6091141 6091143 CTC - DEL VWF ENST00000261405 human ensembl 74_37 -1 known in_frame_del c.7098_7096 p.E2366in_frame_del 0.984:0.996:1.000 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 63 0 0 51 5 8.92857 TMBIM4 0 genome.wustl.edu 37 12 66531937 66531937 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 66531937 66531937 A - DEL TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_del c.520 p.Y174fs 0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 50 0 0 38 13 25.4902 IRAK3 0 genome.wustl.edu 37 12 66610954 66610954 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 66610954 66610954 A - DEL IRAK3 ENST00000261233 human ensembl 74_37 +1 known frame_shift_del c.592 p.M200fs 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_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 548 1 0.182149 364 27 6.90537 CHD4 0 genome.wustl.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 6711546 6711546 T - DEL CHD4 ENST00000309577 human ensembl 74_37 -1 known frame_shift_del c.218 p.K73fs 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 389 1 0.25641 303 72 19.2 IL22 0 genome.wustl.edu 37 12 68645294 68645294 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 68645294 68645294 T - DEL IL22 ENST00000328087 human ensembl 74_37 -1 known frame_shift_del c.461 p.K154fs 0.685 superfamily_4_helix_cytokine-like_core,prints_IL-22 superfamily_4_helix_cytokine-like_core,prints_IL-22,prints_IL-24 - no_errors IL22 HGNC ENSG00000127318 127 0 0 85 6 6.59341 MDM2 0 genome.wustl.edu 37 12 69233090 69233090 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 69233090 69233090 C - DEL MDM2 ENST00000462284 human ensembl 74_37 +1 known frame_shift_del c.955 p.L321fs 1.000 pfam_Znf_RanBP2,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 97 0 0 88 7 7.36842 MDM2 0 genome.wustl.edu 37 12 69233240 69233240 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 69233240 69233240 A - DEL MDM2 ENST00000462284 human ensembl 74_37 +1 known frame_shift_del c.1105 p.T371fs 1.000 pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 82 0 0 74 8 9.7561 TBC1D15 0 genome.wustl.edu 37 12 72290554 72290554 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 72290554 72290554 A - DEL TBC1D15 ENST00000550746 human ensembl 74_37 +1 known frame_shift_del c.1133 p.T380fs 0.987 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 92 0 0 57 13 18.5714 KRR1 0 genome.wustl.edu 37 12 75897786 75897787 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 75897786 75897787 - A INS KRR1 ENST00000229214 human ensembl 74_37 -1 known frame_shift_ins c.729_728 p.L243fs 1.000:1.000 NULL pfam_KH_dom_type_1,smart_KH_dom - no_errors KRR1 HGNC ENSG00000111615 164 0 0 113 6 5.04202 NAV3 0 genome.wustl.edu 37 12 78400806 78400806 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 78400806 78400806 A - DEL NAV3 ENST00000397909 human ensembl 74_37 +1 known frame_shift_del c.1488 p.K498fs 0.960 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 97 0 0 65 21 24.4186 SYT1 0 genome.wustl.edu 37 12 79693277 79693277 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 79693277 79693277 T - DEL SYT1 ENST00000261205 human ensembl 74_37 +1 known frame_shift_del c.756 p.F253fs 1.000 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT1 HGNC ENSG00000067715 107 0 0 94 9 8.73786 SLC2A3 0 genome.wustl.edu 37 12 8083940 8083940 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 8083940 8083940 A - DEL SLC2A3 ENST00000075120 human ensembl 74_37 -1 known frame_shift_del c.411 p.F137fs 0.972 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 100 0 0 72 12 14.2857 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 311 0 0 159 42 20.8955 TMTC3 0 genome.wustl.edu 37 12 88586525 88586525 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 88586525 88586525 A - DEL TMTC3 ENST00000266712 human ensembl 74_37 +1 known frame_shift_del c.1851 p.N619fs 0.393 pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC ENSG00000139324 180 0 0 141 11 7.23684 GALNT4 0 genome.wustl.edu 37 12 89917838 89917840 + In_Frame_Del DEL AGG AGG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 89917838 89917840 AGG - DEL GALNT4 ENST00000529983 human ensembl 74_37 -1 known in_frame_del c.489_487 p.P163in_frame_del 0.112:1.000:0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 92 0 0 63 13 17.1053 ELK3 0 genome.wustl.edu 37 12 96641028 96641029 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 96641028 96641029 - C INS ELK3 ENST00000228741 human ensembl 74_37 +1 known frame_shift_ins c.518_519 p.V176fs 0.017:0.019 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 61 0 0 54 10 15.625 C12orf55 0 genome.wustl.edu 37 12 97093817 97093817 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 12 97093817 97093817 A - DEL C12orf55 ENST00000524981 human ensembl 74_37 +1 putative frame_shift_del c.6420 p.N2142fs 0.981 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 203 1 0.490196 127 9 6.61765 FAM155A 0 genome.wustl.edu 37 13 108518338 108518338 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 108518338 108518338 C - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known frame_shift_del c.607 p.D203fs 0.252 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 113 0 0 108 25 18.797 FAM155A 0 genome.wustl.edu 37 13 108518653 108518655 + In_Frame_Del DEL GCC GCC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 108518653 108518655 GCC - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known in_frame_del c.292_290 p.R97in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 17 0 0 13 7 35 COL4A2 0 genome.wustl.edu 37 13 111156324 111156324 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 111156324 111156324 C - DEL COL4A2 ENST00000360467 human ensembl 74_37 +1 known frame_shift_del c.4269 p.G1426fs 0.956 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 25 0 0 30 7 18.9189 ATP11A 0 genome.wustl.edu 37 13 113487269 113487270 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 113487269 113487270 - G INS ATP11A ENST00000375630 human ensembl 74_37 +1 known frame_shift_ins c.1491_1492 p.K499fs 0.028:0.039 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11A HGNC ENSG00000068650 226 0 0 232 13 5.30612 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 45 0 0 25 7 21.875 TPTE2 0 genome.wustl.edu 37 13 20010428 20010429 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 20010428 20010429 - A INS TPTE2 ENST00000382977 human ensembl 74_37 -1 known frame_shift_ins c.1054_1053 p.G351fs 0.998:0.996 pfam_Dual-sp_phosphatase_cat-dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 66 0 0 44 7 13.7255 GJB6 0 genome.wustl.edu 37 13 20796930 20796931 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 20796930 20796931 - T INS GJB6 ENST00000241124 human ensembl 74_37 -1 known frame_shift_ins c.690_689 p.N230fs 0.001:0.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 132 0 0 101 9 8.18182 MIPEP 0 genome.wustl.edu 37 13 24384050 24384050 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 24384050 24384050 T - DEL MIPEP ENST00000382172 human ensembl 74_37 -1 known frame_shift_del c.1667 p.N556fs 0.000 pfam_Pept_M3A_M3B pfam_Pept_M3A_M3B - no_errors MIPEP HGNC ENSG00000027001 188 0 0 124 23 15.6463 PABPC3 0 genome.wustl.edu 37 13 25670381 25670381 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 25670381 25670381 G - DEL PABPC3 ENST00000281589 human ensembl 74_37 +1 known frame_shift_del c.45 p.D17fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 65 0 0 69 7 9.21053 WASF3 0 genome.wustl.edu 37 13 27255387 27255387 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 27255387 27255387 C - DEL WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_del c.913 p.P307fs 0.975 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 78 0 0 88 5 5.37634 WASF3 0 genome.wustl.edu 37 13 27259835 27259836 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 27259835 27259836 - A INS WASF3 ENST00000335327 human ensembl 74_37 +1 known frame_shift_ins c.1362_1363 p.V456fs 1.000:1.000 pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF3 HGNC ENSG00000132970 88 0 0 77 6 7.22892 PDS5B 0 genome.wustl.edu 37 13 33344888 33344888 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 33344888 33344888 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.4161 p.N1390fs 0.002 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 10 0 0 3 4 57.1429 CSNK1A1L 0 genome.wustl.edu 37 13 37678703 37678704 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 37678703 37678704 - T INS CSNK1A1L ENST00000379800 human ensembl 74_37 -1 known frame_shift_ins c.691_690 p.Q230fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1A1L HGNC ENSG00000180138 137 0 0 84 18 17.6471 FREM2 0 genome.wustl.edu 37 13 39433580 39433580 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 39433580 39433580 T - DEL FREM2 ENST00000280481 human ensembl 74_37 +1 known frame_shift_del c.7372 p.F2459fs 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 121 0 0 122 8 6.15385 MRPS31 0 genome.wustl.edu 37 13 41331010 41331010 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 41331010 41331010 T - DEL MRPS31 ENST00000323563 human ensembl 74_37 -1 known frame_shift_del c.739 p.R247fs 0.834 NULL NULL - no_errors MRPS31 HGNC ENSG00000102738 118 1 0.840336 58 13 18.3099 NAA16 0 genome.wustl.edu 37 13 41936272 41936272 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 41936272 41936272 A - DEL NAA16 ENST00000379406 human ensembl 74_37 +1 known frame_shift_del c.1516 p.K507fs 1.000 pirsf_NatA_aux_su pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR_1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC ENSG00000172766 111 0 0 77 17 18.0851 AKAP11 0 genome.wustl.edu 37 13 42893303 42893303 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 42893303 42893303 A - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.5645 p.A1884fs 0.952 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 50 0 0 27 8 22.8571 ZC3H13 0 genome.wustl.edu 37 13 46543660 46543661 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 46543660 46543661 - T INS ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_ins c.3019_3018 p.R1006fs 1.000:0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 129 1 0.769231 95 15 13.6364 DACH1 0 genome.wustl.edu 37 13 72204775 72204775 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 72204775 72204775 T - DEL DACH1 ENST00000359684 human ensembl 74_37 -1 known frame_shift_del c.1045 p.I349fs 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC ENSG00000165659 237 1 0.420168 195 12 5.7971 SLITRK1 0 genome.wustl.edu 37 13 84455508 84455509 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 84455508 84455509 - T INS SLITRK1 ENST00000377084 human ensembl 74_37 -1 known frame_shift_ins c.135_134 p.F47fs 1.000:1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 135 0 0 80 23 22.3301 FARP1 0 genome.wustl.edu 37 13 99092237 99092237 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 99092237 99092237 G - DEL FARP1 ENST00000376586 human ensembl 74_37 +1 known frame_shift_del c.2549 p.V852fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 267 0 0 279 22 7.30897 GPR18 0 genome.wustl.edu 37 13 99907540 99907540 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 13 99907540 99907540 A - DEL GPR18 ENST00000340807 human ensembl 74_37 -1 known frame_shift_del c.587 p.F196fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR18 HGNC ENSG00000125245 87 0 0 75 5 6.25 XRCC3 0 genome.wustl.edu 37 14 104165201 104165201 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 104165201 104165201 G - DEL XRCC3 ENST00000352127 human ensembl 74_37 -1 known frame_shift_del c.975 p.S326fs 0.009 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC3 HGNC ENSG00000126215 17 0 0 6 5 45.4545 AHNAK2 0 genome.wustl.edu 37 14 105406338 105406338 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105406338 105406338 C - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.15450 p.I5151fs 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 105 0 0 112 8 6.66667 PACS2 0 genome.wustl.edu 37 14 105818795 105818797 + In_Frame_Del DEL CTC CTC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 105818795 105818797 CTC - DEL PACS2 ENST00000458164 human ensembl 74_37 +1 known in_frame_del c.288_290 p.S97in_frame_del 1.000:1.000:1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 81 0 0 83 5 5.68182 OR4Q3 0 genome.wustl.edu 37 14 20215683 20215683 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20215683 20215683 T - DEL OR4Q3 ENST00000331723 human ensembl 74_37 +1 known frame_shift_del c.97 p.Y35fs 0.616 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4Q3 HGNC ENSG00000182652 184 0 0 105 34 24.4604 TEP1 0 genome.wustl.edu 37 14 20837723 20837723 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 20837723 20837723 A - DEL TEP1 ENST00000262715 human ensembl 74_37 -1 known frame_shift_del c.7436 p.L2479fs 0.968 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 85 0 0 74 17 18.6813 ARHGEF40 0 genome.wustl.edu 37 14 21556192 21556192 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 21556192 21556192 C - DEL ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known frame_shift_del c.4453 p.H1487fs 0.081 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 70 0 0 86 11 11.3402 OR4E2 0 genome.wustl.edu 37 14 22133746 22133746 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 22133746 22133746 G - DEL OR4E2 ENST00000408935 human ensembl 74_37 +1 known frame_shift_del c.450 p.G152fs 0.147 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 OR4E2 HGNC ENSG00000221977 174 0 0 155 11 6.62651 LRRC16B 0 genome.wustl.edu 37 14 24538373 24538373 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 24538373 24538373 C - DEL LRRC16B ENST00000342740 human ensembl 74_37 +1 known frame_shift_del c.4010 p.L1339fs 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 59 0 0 55 9 14.0625 AKAP6 0 genome.wustl.edu 37 14 33069995 33069996 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 33069995 33069996 - A INS AKAP6 ENST00000280979 human ensembl 74_37 +1 known frame_shift_ins c.2727_2728 p.A910fs 1.000:1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 125 0 0 86 10 10.4167 SRP54 0 genome.wustl.edu 37 14 35488186 35488186 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 35488186 35488186 T - DEL SRP54 ENST00000216774 human ensembl 74_37 +1 known frame_shift_del c.1062 p.F355fs 0.999 pfam_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particle_SRP54_M,tigrfam_SRP54_euk pfam_SRP54_GTPase_dom,pfam_Signal_recog_particle_SRP54_M,pfam_Signal_recog_particl_SRP54_hlx,pfam_CobW/HypB/UreG_dom,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP54_M,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom,tigrfam_SRP54_euk - no_errors SRP54 HGNC ENSG00000100883 70 0 0 49 8 14.0351 C14orf28 0 genome.wustl.edu 37 14 45369723 45369724 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 45369723 45369724 - G INS C14orf28 ENST00000325192 human ensembl 74_37 +1 known frame_shift_ins c.85_86 p.V32fs 1.000:1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 90 0 0 74 6 7.5 NIN 0 genome.wustl.edu 37 14 51237236 51237236 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 51237236 51237236 T - DEL NIN ENST00000245441 human ensembl 74_37 -1 known frame_shift_del c.1304 p.N435fs 0.975 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 135 0 0 98 17 14.7826 FERMT2 0 genome.wustl.edu 37 14 53331134 53331135 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 53331134 53331135 - T INS FERMT2 ENST00000343279 human ensembl 74_37 -1 known frame_shift_ins c.1587_1586 p.Y530fs 1.000:1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 116 0 0 108 6 5.26316 FERMT2 0 genome.wustl.edu 37 14 53339632 53339633 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 53339632 53339633 - T INS FERMT2 ENST00000343279 human ensembl 74_37 -1 known frame_shift_ins c.1158_1157 p.L387fs 1.000:1.000 pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 118 0 0 95 5 5 WDHD1 0 genome.wustl.edu 37 14 55451560 55451561 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 55451560 55451561 - C INS WDHD1 ENST00000360586 human ensembl 74_37 -1 known frame_shift_ins c.1787_1786 p.D596fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 108 0 0 73 6 7.59494 TMEM260 0 genome.wustl.edu 37 14 57052612 57052612 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 57052612 57052612 T - DEL TMEM260 ENST00000261556 human ensembl 74_37 +1 known frame_shift_del c.326 p.F111fs 1.000 pfam_DUF2723 pfam_DUF2723 - no_errors TMEM260 HGNC ENSG00000070269 168 0 0 121 30 19.8675 ARID4A 0 genome.wustl.edu 37 14 58831995 58831996 + Frame_Shift_Ins INS - - AG TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 58831995 58831996 - AG INS ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_ins c.3188_3189 p.E1067fs 0.993:0.988 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 82 0 0 78 7 8.23529 SYNE2 0 genome.wustl.edu 37 14 64628970 64628971 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 64628970 64628971 - C INS SYNE2 ENST00000358025 human ensembl 74_37 +1 known frame_shift_ins c.16275_16276 p.A5427fs 0.120:0.067 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 80 0 0 83 10 10.7527 ZBTB1 0 genome.wustl.edu 37 14 64989787 64989787 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 64989787 64989787 A - DEL ZBTB1 ENST00000394712 human ensembl 74_37 +1 known frame_shift_del c.1565 p.K524fs 0.222 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB1 HGNC ENSG00000126804 210 0 0 132 15 10.2041 ZFYVE26 0 genome.wustl.edu 37 14 68249902 68249902 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 68249902 68249902 C - DEL ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known frame_shift_del c.3967 p.A1323fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 149 0 0 128 28 17.9487 ADAM21 0 genome.wustl.edu 37 14 70924417 70924418 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 70924417 70924418 - G INS ADAM21 ENST00000267499 human ensembl 74_37 +1 known frame_shift_ins c.201_202 p.Q69fs 0.027:0.034 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 232 0 0 227 12 5.02092 SIPA1L1 0 genome.wustl.edu 37 14 72165809 72165809 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 72165809 72165809 G - DEL SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known frame_shift_del c.3486 p.G1164fs 0.341 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 112 0 0 78 18 18.75 YLPM1 0 genome.wustl.edu 37 14 75248466 75248466 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 75248466 75248466 C - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.1720 p.P575fs 0.999 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 139 0 0 165 14 7.82123 ZC3H14 0 genome.wustl.edu 37 14 89069237 89069238 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 89069237 89069238 - C INS ZC3H14 ENST00000251038 human ensembl 74_37 +1 known frame_shift_ins c.1580_1581 p.G530fs 1.000:1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 62 0 0 42 15 26.3158 FOXN3 0 genome.wustl.edu 37 14 89628761 89628762 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 89628761 89628762 - T INS FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_ins c.1470_1469 p.N490fs 1.000:1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 94 0 0 65 6 8.4507 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 86 0 0 63 6 8.69565 OR4F6 0 genome.wustl.edu 37 15 102346697 102346698 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 102346697 102346698 - T INS OR4F6 ENST00000328882 human ensembl 74_37 +1 known frame_shift_ins c.775_776 p.P261fs 0.000:0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 163 0 0 130 9 6.47482 MKRN3 0 genome.wustl.edu 37 15 23811404 23811405 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 23811404 23811405 - C INS MKRN3 ENST00000314520 human ensembl 74_37 +1 known frame_shift_ins c.475_476 p.A162fs 0.960:0.962 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 38 0 0 32 6 15.7895 SNHG14 0 genome.wustl.edu 37 15 25227263 25227263 + RNA DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25227263 25227263 A - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 142 0 0 98 7 6.66667 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 20 0 0 5 5 50 SNHG14 0 genome.wustl.edu 37 15 25438515 25438516 + RNA INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 25438515 25438516 - A INS SNHG14 ENST00000363358 human ensembl 74_37 +1 known rna NULL NULL 0.982:0.990 - - - no_errors SNHG14 HGNC ENSG00000224078 422 0 0 355 31 8.03109 GABRG3 0 genome.wustl.edu 37 15 27571974 27571974 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 27571974 27571974 T - DEL GABRG3 ENST00000333743 human ensembl 74_37 +1 known frame_shift_del c.289 p.F98fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC ENSG00000182256 189 0 0 145 13 8.22785 OCA2 0 genome.wustl.edu 37 15 28200305 28200305 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 28200305 28200305 T - DEL OCA2 ENST00000354638 human ensembl 74_37 -1 known frame_shift_del c.1841 p.K614fs 1.000 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 202 1 0.492611 132 27 16.9811 TJP1 0 genome.wustl.edu 37 15 29997866 29997866 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 29997866 29997866 C - DEL TJP1 ENST00000346128 human ensembl 74_37 -1 known frame_shift_del c.4934 p.G1645fs 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 133 0 0 96 9 8.57143 LTK 0 genome.wustl.edu 37 15 41799375 41799375 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 41799375 41799375 G - DEL LTK ENST00000263800 human ensembl 74_37 -1 known frame_shift_del c.1459 p.Q487fs 0.984 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LTK HGNC ENSG00000062524 80 0 0 73 7 8.75 MGA 0 genome.wustl.edu 37 15 42034971 42034971 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 42034971 42034971 T - DEL MGA ENST00000219905 human ensembl 74_37 +1 known frame_shift_del c.4813 p.L1606fs 0.997 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 131 0 0 96 15 13.5135 ZNF106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 42742957 42742957 A - DEL ZNF106 ENST00000263805 human ensembl 74_37 -1 known frame_shift_del c.1444 p.S482fs 0.139 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 292 0 0 191 57 22.9839 UBR1 0 genome.wustl.edu 37 15 43237655 43237655 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43237655 43237655 G - DEL UBR1 ENST00000290650 human ensembl 74_37 -1 known frame_shift_del c.5122 p.L1708fs 0.995 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 68 0 0 38 12 24 MAP1A 0 genome.wustl.edu 37 15 43819858 43819858 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 43819858 43819858 C - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.6187 p.R2065fs 0.638 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 44 0 0 31 9 22.5 WDR76 0 genome.wustl.edu 37 15 44158577 44158577 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 44158577 44158577 A - DEL WDR76 ENST00000263795 human ensembl 74_37 +1 known frame_shift_del c.1868 p.S625fs 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC ENSG00000092470 121 0 0 83 7 7.77778 DUOX1 0 genome.wustl.edu 37 15 45440114 45440114 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 45440114 45440114 A - DEL DUOX1 ENST00000321429 human ensembl 74_37 +1 known frame_shift_del c.2561 p.K855fs 1.000 smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 126 0 0 108 12 10 ATP8B4 0 genome.wustl.edu 37 15 50193368 50193368 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 50193368 50193368 T - DEL ATP8B4 ENST00000284509 human ensembl 74_37 -1 known frame_shift_del c.2210 p.K737fs 0.068 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 73 0 0 51 5 8.92857 USP8 0 genome.wustl.edu 37 15 50733661 50733661 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 50733661 50733661 A - DEL USP8 ENST00000307179 human ensembl 74_37 +1 known frame_shift_del c.220 p.R76fs 1.000 pfam_USP8_dimer pfam_Peptidase_C19/C67,pfam_USP8_dimer,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_dom,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19/C67 - no_errors USP8 HGNC ENSG00000138592 100 0 0 58 15 20.5479 DMXL2 0 genome.wustl.edu 37 15 51750703 51750704 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51750703 51750704 - T INS DMXL2 ENST00000543779 human ensembl 74_37 -1 known frame_shift_ins c.8135_8134 p.S2712fs 1.000:1.000 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 95 0 0 76 7 8.43373 DMXL2 0 genome.wustl.edu 37 15 51758424 51758424 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51758424 51758424 A - DEL DMXL2 ENST00000543779 human ensembl 74_37 -1 known frame_shift_del c.7477 p.S2493fs 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 160 0 0 99 7 6.60377 DMXL2 0 genome.wustl.edu 37 15 51780296 51780297 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51780296 51780297 - T INS DMXL2 ENST00000543779 human ensembl 74_37 -1 known frame_shift_ins c.5072_5071 p.M1691fs 1.000:1.000 pfam_Rav1p_C 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 139 0 0 94 9 8.73786 SCG3 0 genome.wustl.edu 37 15 51975303 51975303 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 51975303 51975303 A - DEL SCG3 ENST00000220478 human ensembl 74_37 +1 known frame_shift_del c.163 p.T57fs 0.993 NULL NULL - no_errors SCG3 HGNC ENSG00000104112 232 0 0 135 14 9.39597 CCPG1 0 genome.wustl.edu 37 15 55669237 55669239 + In_Frame_Del DEL CTT CTT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55669237 55669239 CTT - DEL CCPG1 ENST00000310958 human ensembl 74_37 -1 known in_frame_del c.364_362 p.E121in_frame_del 0.993:0.996:1.000 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 143 0 0 75 19 20.2128 DYX1C1 0 genome.wustl.edu 37 15 55783395 55783396 + Frame_Shift_Del DEL CT CT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55783395 55783396 CT - DEL DYX1C1 ENST00000321149 human ensembl 74_37 -1 known frame_shift_del c.331_330 p.R110fs 1.000:0.916 superfamily_HSP20-like_chaperone pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 112 0 0 83 19 18.6275 DYX1C1 0 genome.wustl.edu 37 15 55789947 55789947 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 55789947 55789947 T - DEL DYX1C1 ENST00000321149 human ensembl 74_37 -1 known frame_shift_del c.234 p.E79fs 0.988 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors DYX1C1 HGNC ENSG00000256061 206 0 0 124 28 18.4211 TEX9 0 genome.wustl.edu 37 15 56719823 56719824 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 56719823 56719824 - A INS TEX9 ENST00000352903 human ensembl 74_37 +1 known frame_shift_ins c.984_985 p.I330fs 0.181:0.358 NULL NULL - no_errors TEX9 HGNC ENSG00000151575 112 0 0 85 7 7.6087 SLTM 0 genome.wustl.edu 37 15 59186310 59186310 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 59186310 59186310 T - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1460 p.N487fs 0.076 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 54 0 0 30 9 23.0769 RORA 0 genome.wustl.edu 37 15 60792166 60792166 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 60792166 60792166 T - DEL RORA ENST00000261523 human ensembl 74_37 -1 known frame_shift_del c.1431 p.K477fs 0.995 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC ENSG00000069667 187 0 0 139 13 8.55263 AAGAB 0 genome.wustl.edu 37 15 67528390 67528390 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 67528390 67528390 T - DEL AAGAB ENST00000261880 human ensembl 74_37 -1 known frame_shift_del c.378 p.A127fs 1.000 superfamily_P-loop_NTPase pfam_Alpha/Gamma-adaptin-bd_p34,superfamily_P-loop_NTPase - no_errors AAGAB HGNC ENSG00000103591 181 0 0 113 21 15.6716 PIAS1 0 genome.wustl.edu 37 15 68479890 68479892 + In_Frame_Del DEL CCT CCT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 68479890 68479892 CCT - DEL PIAS1 ENST00000249636 human ensembl 74_37 +1 known in_frame_del c.1673_1675 p.S559in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 143 0 0 78 15 16.129 THAP10 0 genome.wustl.edu 37 15 71184328 71184328 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 71184328 71184328 G - DEL THAP10 ENST00000249861 human ensembl 74_37 -1 known frame_shift_del c.284 p.P95fs 0.001 smart_Znf_C2CH pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP10 HGNC ENSG00000129028 18 0 0 11 7 38.8889 SIN3A 0 genome.wustl.edu 37 15 75694249 75694249 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 75694249 75694249 A - DEL SIN3A ENST00000360439 human ensembl 74_37 -1 known frame_shift_del c.1470 p.F490fs 1.000 pfam_PAH,superfamily_PAH pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3A HGNC ENSG00000169375 71 0 0 36 14 28 CSPG4 0 genome.wustl.edu 37 15 75981842 75981854 + Frame_Shift_Del DEL CCTCCAGCACCAG CCTCCAGCACCAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CCTCCAGCACCAG CCTCCAGCACCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 75981842 75981854 CCTCCAGCACCAG - DEL CSPG4 ENST00000308508 human ensembl 74_37 -1 known frame_shift_del c.1564_1552 p.L518fs 1.000:1.000:1.000:1.000:0.991:0.996:0.933:0.237:0.266:0.299:0.922:1.000:1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 57 0 0 69 8 10.3896 SCAPER 0 genome.wustl.edu 37 15 76958026 76958026 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 76958026 76958026 T - DEL SCAPER ENST00000324767 human ensembl 74_37 -1 known frame_shift_del c.2613 p.A872fs 0.998 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 47 0 0 21 6 22.2222 TMC3 0 genome.wustl.edu 37 15 81625366 81625366 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 81625366 81625366 T - DEL TMC3 ENST00000359440 human ensembl 74_37 -1 known frame_shift_del c.2697 p.K899fs 0.000 NULL pfam_TMC - no_errors TMC3 HGNC ENSG00000188869 106 0 0 100 9 8.25688 FSD2 0 genome.wustl.edu 37 15 83438638 83438639 + Splice_Site INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83438638 83438639 - G INS FSD2 ENST00000334574 human ensembl 74_37 -1 known splice_site_ins c.1268-3_1268-2 e7-2 1.000:0.230 - - - no_errors FSD2 HGNC ENSG00000186628 96 0 0 77 12 13.4831 FSD2 0 genome.wustl.edu 37 15 83455681 83455682 + Frame_Shift_Del DEL GT GT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83455681 83455682 GT - DEL FSD2 ENST00000334574 human ensembl 74_37 -1 known frame_shift_del c.462_461 p.H154fs 0.000:0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 82 0 0 81 9 10 C15orf40 0 genome.wustl.edu 37 15 83674354 83674354 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 83674354 83674354 T - DEL C15orf40 ENST00000513601 human ensembl 74_37 -1 known frame_shift_del c.457 p.T153fs 0.000 NULL pfam_DUF167,superfamily_DUF167 - no_errors C15orf40 HGNC ENSG00000169609 243 1 0.409836 169 14 7.65027 ALPK3 0 genome.wustl.edu 37 15 85400267 85400267 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 85400267 85400267 A - DEL ALPK3 ENST00000258888 human ensembl 74_37 +1 known frame_shift_del c.2904 p.K970fs 0.859 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 136 0 0 107 22 17.0543 SYNM 0 genome.wustl.edu 37 15 99669830 99669830 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 15 99669830 99669830 A - DEL SYNM ENST00000336292 human ensembl 74_37 +1 known frame_shift_del c.1262 p.T422fs 0.003 NULL pfam_IF - no_errors SYNM HGNC ENSG00000182253 130 0 0 126 10 7.35294 MIR365A 0 genome.wustl.edu 37 16 14403166 14403167 + RNA INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 14403166 14403167 - G INS MIR365A ENST00000362260 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR365A HGNC ENSG00000199130 88 0 0 77 8 9.41176 FOPNL 0 genome.wustl.edu 37 16 15978038 15978038 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 15978038 15978038 T - DEL FOPNL ENST00000255759 human ensembl 74_37 -1 known frame_shift_del c.53 p.K18fs 0.435 NULL pfam_FOP_dimerisation-dom_N,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors FOPNL HGNC ENSG00000133393 98 0 0 70 14 16.6667 DNAH3 0 genome.wustl.edu 37 16 21030966 21030966 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 21030966 21030966 T - DEL DNAH3 ENST00000261383 human ensembl 74_37 -1 known frame_shift_del c.6002 p.N2001fs 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 134 0 0 106 13 10.9244 HS3ST2 0 genome.wustl.edu 37 16 22826303 22826303 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 22826303 22826303 G - DEL HS3ST2 ENST00000261374 human ensembl 74_37 +1 known frame_shift_del c.372 p.G126fs 0.989 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST2 HGNC ENSG00000122254 23 0 0 16 11 40.7407 GTF3C1 0 genome.wustl.edu 37 16 27518381 27518382 + Frame_Shift_Del DEL TC TC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 27518381 27518382 TC - DEL GTF3C1 ENST00000356183 human ensembl 74_37 -1 known frame_shift_del c.1339_1338 p.K447fs 1.000:0.998 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 76 0 0 52 7 11.8644 TMEM219 0 genome.wustl.edu 37 16 29979478 29979479 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 29979478 29979479 - G INS TMEM219 ENST00000279396 human ensembl 74_37 +1 known frame_shift_ins c.488_489 p.A165fs 1.000:0.999 NULL NULL - no_errors TMEM219 HGNC ENSG00000149932 159 0 0 141 9 6 TAOK2 0 genome.wustl.edu 37 16 30002499 30002499 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30002499 30002499 G - DEL TAOK2 ENST00000279394 human ensembl 74_37 +1 known frame_shift_del c.2760 p.G922fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 101 0 0 101 16 13.6752 KREMEN2 0 genome.wustl.edu 37 16 3016364 3016364 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3016364 3016364 C - DEL KREMEN2 ENST00000303746 human ensembl 74_37 +1 known frame_shift_del c.400 p.P135fs 0.998 pirsf_Kremen,pfam_WSC_carb-bd,superfamily_Kringle-like,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd pirsf_Kremen,pfam_WSC_carb-bd,pfam_Kringle,pfam_CUB_dom,superfamily_Kringle-like,superfamily_CUB_dom,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB_dom,pfscan_CUB_dom,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN2 HGNC ENSG00000131650 76 0 0 70 24 25.5319 CD2BP2 0 genome.wustl.edu 37 16 30364358 30364358 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30364358 30364358 G - DEL CD2BP2 ENST00000305596 human ensembl 74_37 -1 known frame_shift_del c.974 p.P325fs 0.853 pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors CD2BP2 HGNC ENSG00000169217 52 0 0 62 8 11.4286 ZNF48 0 genome.wustl.edu 37 16 30409310 30409310 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30409310 30409310 C - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.739 p.R249fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 46 0 0 37 11 22.9167 PHKG2 0 genome.wustl.edu 37 16 30768329 30768329 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 30768329 30768329 C - DEL PHKG2 ENST00000563588 human ensembl 74_37 +1 known frame_shift_del c.1132 p.P379fs 0.997 prints_Phosph_kin_gamma pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 115 0 0 96 17 15.0442 ZNF174 0 genome.wustl.edu 37 16 3452110 3452111 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3452110 3452111 - A INS ZNF174 ENST00000268655 human ensembl 74_37 +1 known frame_shift_ins c.106_107 p.N38fs 0.037:0.000 superfamily_Retrov_capsid_C 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 ZNF174 HGNC ENSG00000103343 256 0 0 262 14 5.07246 SLX4 0 genome.wustl.edu 37 16 3639952 3639953 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3639952 3639953 - A INS SLX4 ENST00000294008 human ensembl 74_37 -1 known frame_shift_ins c.3687_3686 p.L1229fs 0.003:0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 71 0 0 78 15 16.129 SLX4 0 genome.wustl.edu 37 16 3658541 3658541 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 3658541 3658541 C - DEL SLX4 ENST00000294008 human ensembl 74_37 -1 known frame_shift_del c.425 p.G142fs 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 85 0 0 72 18 20 RAB11FIP3 0 genome.wustl.edu 37 16 476618 476618 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 476618 476618 C - DEL RAB11FIP3 ENST00000457159 human ensembl 74_37 +1 known frame_shift_del c.612 p.R206fs 0.947 pfscan_EF_hand_dom pfam_Rab-bd_FIP-RBD,pfscan_EF_hand_dom - no_errors RAB11FIP3 HGNC ENSG00000090565 38 0 0 38 7 15.5556 B3GNT9 0 genome.wustl.edu 37 16 67183783 67183783 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 67183783 67183783 A - DEL B3GNT9 ENST00000449549 human ensembl 74_37 -1 known frame_shift_del c.606 p.F202fs 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31,pfam_Fringe-like - no_errors B3GNT9 HGNC ENSG00000237172 27 0 0 8 3 27.2727 CDH1 0 genome.wustl.edu 37 16 68835780 68835781 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 68835780 68835781 - C INS CDH1 ENST00000261769 human ensembl 74_37 +1 known frame_shift_ins c.371_372 p.P127fs 0.005:0.015 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 62 0 0 65 8 10.9589 SF3B3 0 genome.wustl.edu 37 16 70599416 70599416 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 70599416 70599416 T - DEL SF3B3 ENST00000302516 human ensembl 74_37 +1 known frame_shift_del c.2815 p.L940fs 1.000 pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 94 0 0 63 14 18.1818 NUDT7 0 genome.wustl.edu 37 16 77775744 77775744 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 77775744 77775744 A - DEL NUDT7 ENST00000268533 human ensembl 74_37 +1 known frame_shift_del c.614 p.K207fs 0.000 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT7 HGNC ENSG00000140876 69 0 0 58 7 10.7692 TAF1C 0 genome.wustl.edu 37 16 84213650 84213651 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 84213650 84213651 - G INS TAF1C ENST00000378541 human ensembl 74_37 -1 known frame_shift_ins c.1601_1600 p.Q534fs 0.999:0.998 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 56 0 0 54 15 21.7391 SPATA2L 0 genome.wustl.edu 37 16 89764584 89764584 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 89764584 89764584 C - DEL SPATA2L ENST00000289805 human ensembl 74_37 -1 known frame_shift_del c.433 p.A145fs 0.864 NULL NULL - no_errors SPATA2L HGNC ENSG00000158792 73 0 0 88 10 10.2041 GRIN2A 0 genome.wustl.edu 37 16 9857380 9857380 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 16 9857380 9857380 T - DEL GRIN2A ENST00000330684 human ensembl 74_37 -1 known frame_shift_del c.4021 p.S1341fs 0.070 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 90 0 0 86 15 14.8515 YWHAE 0 genome.wustl.edu 37 17 1257558 1257560 + In_Frame_Del DEL ATG ATG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 1257558 1257560 ATG - DEL YWHAE ENST00000264335 human ensembl 74_37 -1 known in_frame_del c.662_660 p.I220in_frame_del 1.000:1.000:1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_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 107 0 0 79 7 8.13953 RPA1 0 genome.wustl.edu 37 17 1782983 1782983 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 1782983 1782983 G - DEL RPA1 ENST00000254719 human ensembl 74_37 +1 known frame_shift_del c.1082 p.E363fs 1.000 superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1 - no_errors RPA1 HGNC ENSG00000132383 204 0 0 171 21 10.9375 FLII 0 genome.wustl.edu 37 17 18152147 18152148 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18152147 18152148 - C INS FLII ENST00000327031 human ensembl 74_37 -1 known frame_shift_ins c.1985_1984 p.A662fs 0.934:0.924 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors FLII HGNC ENSG00000177731 255 0 0 205 25 10.8696 TOP3A 0 genome.wustl.edu 37 17 18181545 18181545 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 18181545 18181545 G - DEL TOP3A ENST00000321105 human ensembl 74_37 -1 known frame_shift_del c.2271 p.R758fs 0.001 NULL pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 69 0 0 71 27 27.551 EPN2 0 genome.wustl.edu 37 17 19232949 19232950 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 19232949 19232950 - A INS EPN2 ENST00000314728 human ensembl 74_37 +1 known frame_shift_ins c.1400_1401 p.T470fs 1.000:1.000 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 109 0 0 74 22 22.9167 WSB1 0 genome.wustl.edu 37 17 25630468 25630469 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 25630468 25630469 - A INS WSB1 ENST00000262394 human ensembl 74_37 +1 known frame_shift_ins c.285_286 p.N96fs 0.987:0.997 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB1 HGNC ENSG00000109046 130 0 0 103 9 8.03571 PAFAH1B1 0 genome.wustl.edu 37 17 2579802 2579802 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 2579802 2579802 A - DEL PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known frame_shift_del c.904 p.S304fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 101 0 0 52 17 24.6377 NLK 0 genome.wustl.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 26449740 26449740 T - DEL NLK ENST00000407008 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 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 NLK HGNC ENSG00000087095 148 0 0 92 40 30.303 SUPT6H 0 genome.wustl.edu 37 17 27002006 27002006 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27002006 27002006 A - DEL SUPT6H ENST00000314616 human ensembl 74_37 +1 known frame_shift_del c.364 p.M124fs 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 85 0 0 68 6 8.10811 TAOK1 0 genome.wustl.edu 37 17 27844497 27844498 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 27844497 27844498 - A INS TAOK1 ENST00000261716 human ensembl 74_37 +1 known frame_shift_ins c.1731_1732 p.E579fs 0.263:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK1 HGNC ENSG00000160551 182 0 0 127 14 9.92908 OR1G1 0 genome.wustl.edu 37 17 3030672 3030672 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 3030672 3030672 G - DEL OR1G1 ENST00000328890 human ensembl 74_37 -1 known frame_shift_del c.174 p.M59fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 112 0 0 103 6 5.50459 C17orf66 0 genome.wustl.edu 37 17 34190103 34190103 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 34190103 34190103 C - DEL C17orf66 ENST00000311880 human ensembl 74_37 -1 known frame_shift_del c.652 p.A218fs 0.069 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C17orf66 HGNC ENSG00000172653 143 0 0 110 11 9.09091 KRT222 0 genome.wustl.edu 37 17 38818272 38818272 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 38818272 38818272 T - DEL KRT222 ENST00000394052 human ensembl 74_37 -1 known frame_shift_del c.121 p.M41fs 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT222 HGNC ENSG00000213424 189 0 0 104 26 20 KRT33A 0 genome.wustl.edu 37 17 39506948 39506948 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 39506948 39506948 G - DEL KRT33A ENST00000007735 human ensembl 74_37 -1 known frame_shift_del c.72 p.S25fs 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 59 0 0 45 13 22.4138 DNAJC7 0 genome.wustl.edu 37 17 40134398 40134398 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40134398 40134398 T - DEL DNAJC7 ENST00000457167 human ensembl 74_37 -1 known frame_shift_del c.1106 p.N369fs 1.000 NULL pfam_TPR_1,pfam_TPR_2,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC7 HGNC ENSG00000168259 160 0 0 121 29 19.3333 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 NULL pfam_Prot_kinase_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_dom - no_errors WNK4 HGNC ENSG00000126562 86 0 0 61 18 22.7848 ETV4 0 genome.wustl.edu 37 17 41610090 41610090 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 41610090 41610090 C - DEL ETV4 ENST00000319349 human ensembl 74_37 -1 known frame_shift_del c.763 p.A255fs 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,prints_Ets_dom,pfscan_Ets_dom - no_errors ETV4 HGNC ENSG00000175832 86 0 0 96 7 6.79612 G6PC3 0 genome.wustl.edu 37 17 42153276 42153276 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42153276 42153276 C - DEL G6PC3 ENST00000269097 human ensembl 74_37 +1 known frame_shift_del c.906 p.P304fs 0.674 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC3 HGNC ENSG00000141349 114 0 0 110 9 7.56303 GPATCH8 0 genome.wustl.edu 37 17 42478249 42478249 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 42478249 42478249 G - DEL GPATCH8 ENST00000591680 human ensembl 74_37 -1 known frame_shift_del c.1196 p.P399fs 1.000 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 144 0 0 154 10 6.09756 MAPT 0 genome.wustl.edu 37 17 44061060 44061060 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 44061060 44061060 C - DEL MAPT ENST00000344290 human ensembl 74_37 +1 known frame_shift_del c.890 p.L299fs 0.000 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 56 0 0 47 8 14.5455 HOXB1 0 genome.wustl.edu 37 17 46607839 46607839 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 46607839 46607839 G - DEL HOXB1 ENST00000239174 human ensembl 74_37 -1 known frame_shift_del c.428 p.P143fs 0.030 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB1 HGNC ENSG00000120094 71 0 0 68 12 15 COL1A1 0 genome.wustl.edu 37 17 48270162 48270162 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48270162 48270162 G - DEL COL1A1 ENST00000225964 human ensembl 74_37 -1 known frame_shift_del c.1871 p.P624fs 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 46 0 0 41 9 18 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 63 0 0 59 8 11.9403 ANKRD40 0 genome.wustl.edu 37 17 48776791 48776792 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 48776791 48776792 - A INS ANKRD40 ENST00000285243 human ensembl 74_37 -1 known frame_shift_ins c.747_746 p.F250fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 156 0 0 133 13 8.90411 CAMTA2 0 genome.wustl.edu 37 17 4883808 4883808 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 4883808 4883808 G - DEL CAMTA2 ENST00000414043 human ensembl 74_37 -1 known frame_shift_del c.878 p.P293fs 0.997 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 88 0 0 98 13 11.7117 EPX 0 genome.wustl.edu 37 17 56276962 56276962 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56276962 56276962 G - DEL EPX ENST00000225371 human ensembl 74_37 +1 known frame_shift_del c.1344 p.H450fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 78 0 0 69 7 9.21053 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 148 0 0 118 16 11.9403 RPS6KB1 0 genome.wustl.edu 37 17 58011797 58011797 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 58011797 58011797 C - DEL RPS6KB1 ENST00000225577 human ensembl 74_37 +1 known frame_shift_del c.782 p.P262fs 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,pirsf_Ribosomal_S6_kinase,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,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB1 HGNC ENSG00000108443 89 0 0 60 6 9.09091 HEATR6 0 genome.wustl.edu 37 17 58143674 58143675 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 58143674 58143675 - T INS HEATR6 ENST00000184956 human ensembl 74_37 -1 known frame_shift_ins c.1312_1311 p.V437fs 1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR6 HGNC ENSG00000068097 102 0 0 55 12 17.9104 DDX42 0 genome.wustl.edu 37 17 61877936 61877936 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 61877936 61877936 A - DEL DDX42 ENST00000389924 human ensembl 74_37 +1 known frame_shift_del c.580 p.I196fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX42 HGNC ENSG00000198231 126 1 0.787402 84 20 19.2308 ERN1 0 genome.wustl.edu 37 17 62149457 62149457 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 62149457 62149457 T - DEL ERN1 ENST00000433197 human ensembl 74_37 -1 known frame_shift_del c.362 p.K121fs 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_Prot_kinase_dom,pfam_KEN_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN1 HGNC ENSG00000178607 44 0 0 36 6 14.2857 BPTF 0 genome.wustl.edu 37 17 65899951 65899951 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 65899951 65899951 A - DEL BPTF ENST00000321892 human ensembl 74_37 +1 known frame_shift_del c.2968 p.E993fs 0.993 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 71 0 0 33 9 21.4286 ABCA6 0 genome.wustl.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 67125767 67125767 A - DEL ABCA6 ENST00000284425 human ensembl 74_37 -1 known frame_shift_del c.917 p.L306fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 153 0 0 66 22 25 ABCA5 0 genome.wustl.edu 37 17 67246059 67246059 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 67246059 67246059 A - DEL ABCA5 ENST00000392677 human ensembl 74_37 -1 known frame_shift_del c.4755 p.F1585fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 97 0 0 56 7 11.1111 KCNJ2 0 genome.wustl.edu 37 17 68172387 68172387 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 68172387 68172387 C - DEL KCNJ2 ENST00000243457 human ensembl 74_37 +1 known frame_shift_del c.1207 p.P404fs 0.930 pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1 - no_errors KCNJ2 HGNC ENSG00000123700 119 0 0 133 8 5.67376 BCL6B 0 genome.wustl.edu 37 17 6927858 6927858 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 6927858 6927858 C - DEL BCL6B ENST00000293805 human ensembl 74_37 +1 known frame_shift_del c.540 p.S183fs 0.003 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6B HGNC ENSG00000161940 130 0 0 115 24 17.2662 YBX2 0 genome.wustl.edu 37 17 7193637 7193637 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7193637 7193637 G - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known frame_shift_del c.677 p.P226fs 0.892 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 177 0 0 197 16 7.51174 KCTD2 0 genome.wustl.edu 37 17 73058330 73058330 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73058330 73058330 A - DEL KCTD2 ENST00000322444 human ensembl 74_37 +1 known frame_shift_del c.752 p.K252fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC ENSG00000180901 70 0 0 54 12 18.1818 GRB2 0 genome.wustl.edu 37 17 73316467 73316467 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73316467 73316467 G - DEL GRB2 ENST00000316804 human ensembl 74_37 -1 known frame_shift_del c.636 p.V213fs 0.001 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,pfam_SH3-like_bac-type,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain,prints_p67phox - no_errors GRB2 HGNC ENSG00000177885 386 1 0.258398 292 46 13.6095 KIAA0195 0 genome.wustl.edu 37 17 73484878 73484878 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73484878 73484878 C - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.651 p.F220fs 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 79 0 0 82 15 15.4639 KIAA0195 0 genome.wustl.edu 37 17 73491388 73491390 + In_Frame_Del DEL CTC CTC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73491388 73491390 CTC - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known in_frame_del c.2752_2754 p.L920in_frame_del 1.000:1.000:0.839 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 29 0 0 29 9 23.6842 ITGB4 0 genome.wustl.edu 37 17 73746239 73746239 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 73746239 73746239 C - DEL ITGB4 ENST00000200181 human ensembl 74_37 +1 known frame_shift_del c.3364 p.P1123fs 0.000 pirsf_Integrin_bsu-4,superfamily_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 64 0 0 77 12 13.4831 RNF157 0 genome.wustl.edu 37 17 74208459 74208460 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74208459 74208460 - C INS RNF157 ENST00000269391 human ensembl 74_37 -1 known frame_shift_ins c.193_192 p.N64fs 1.000:0.998 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 112 0 0 85 22 20.5607 UBE2O 0 genome.wustl.edu 37 17 74392741 74392741 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74392741 74392741 G - DEL UBE2O ENST00000319380 human ensembl 74_37 -1 known frame_shift_del c.2277 p.I760fs 0.993 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2O HGNC ENSG00000175931 106 0 0 85 13 13.2653 SRSF2 0 genome.wustl.edu 37 17 74732956 74732956 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 74732956 74732956 G - DEL SRSF2 ENST00000359995 human ensembl 74_37 -1 known frame_shift_del c.287 p.P96fs 0.326 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC ENSG00000161547 33 0 0 26 7 21.2121 SEC14L1 0 genome.wustl.edu 37 17 75196699 75196699 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 75196699 75196699 C - DEL SEC14L1 ENST00000392476 human ensembl 74_37 +1 known frame_shift_del c.953 p.P319fs 0.890 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 139 0 0 121 8 6.20155 DNAH2 0 genome.wustl.edu 37 17 7697597 7697598 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7697597 7697598 - C INS DNAH2 ENST00000389173 human ensembl 74_37 +1 known frame_shift_ins c.7595_7596 p.G2535fs 1.000:0.949 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 79 0 0 103 7 6.36364 CHD3 0 genome.wustl.edu 37 17 7798765 7798765 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 7798765 7798765 C - DEL CHD3 ENST00000330494 human ensembl 74_37 +1 known frame_shift_del c.1612 p.R540fs 0.007 superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC ENSG00000170004 94 0 0 116 7 5.69106 ARL16 0 genome.wustl.edu 37 17 79650094 79650094 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 79650094 79650094 C - DEL ARL16 ENST00000397498 human ensembl 74_37 -1 known frame_shift_del c.255 p.C86fs 0.326 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ENSG00000214087 193 0 0 175 31 15.0485 RAB40B 0 genome.wustl.edu 37 17 80615786 80615786 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 80615786 80615786 G - DEL RAB40B ENST00000571995 human ensembl 74_37 -1 known frame_shift_del c.790 p.Q264fs 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 187 0 0 154 33 17.6471 MYH10 0 genome.wustl.edu 37 17 8526464 8526464 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 17 8526464 8526464 T - DEL MYH10 ENST00000396239 human ensembl 74_37 -1 known frame_shift_del c.101 p.K34fs 1.000 pfam_Myosin_N pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 200 0 0 158 34 17.7083 CEP192 0 genome.wustl.edu 37 18 13089513 13089514 + Frame_Shift_Del DEL CA CA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13089513 13089514 CA - DEL CEP192 ENST00000506447 human ensembl 74_37 +1 known frame_shift_del c.6052_6053 p.Q2018fs 0.362:0.348 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 83 0 0 55 7 11.2903 FAM210A 0 genome.wustl.edu 37 18 13681751 13681751 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13681751 13681751 T - DEL FAM210A ENST00000322247 human ensembl 74_37 -1 known frame_shift_del c.326 p.K109fs 0.991 NULL pfam_DUF1279 - no_errors FAM210A HGNC ENSG00000177150 246 0 0 202 12 5.60748 RNMT 0 genome.wustl.edu 37 18 13746253 13746253 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 13746253 13746253 A - DEL RNMT ENST00000262173 human ensembl 74_37 +1 known frame_shift_del c.1174 p.T394fs 1.000 pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 115 0 0 69 8 10.3896 USP14 0 genome.wustl.edu 37 18 209989 209989 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 209989 209989 C - DEL USP14 ENST00000261601 human ensembl 74_37 +1 known frame_shift_del c.1183 p.Q396fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 82 0 0 69 8 10.3896 DSC3 0 genome.wustl.edu 37 18 28586996 28586996 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 28586996 28586996 T - DEL DSC3 ENST00000360428 human ensembl 74_37 -1 known frame_shift_del c.1765 p.M589fs 0.299 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin,prints_Desmosomal_cadherin - no_errors DSC3 HGNC ENSG00000134762 86 0 0 67 15 18.2927 KLHL14 0 genome.wustl.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 30349862 30349862 G - DEL KLHL14 ENST00000359358 human ensembl 74_37 -1 known frame_shift_del c.693 p.V232fs 0.982 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 38 0 0 32 11 25.5814 CCDC178 0 genome.wustl.edu 37 18 30804894 30804895 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 30804894 30804895 - T INS CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_ins c.1663_1662 p.L554fs 0.000:0.000 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 120 0 0 77 6 7.22892 CCDC178 0 genome.wustl.edu 37 18 30806795 30806796 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 30806795 30806796 - T INS CCDC178 ENST00000406524 human ensembl 74_37 -1 known frame_shift_ins c.1618_1617 p.L539fs 0.021:0.017 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 103 0 0 65 5 7.14286 ZBTB7C 0 genome.wustl.edu 37 18 45566518 45566519 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 45566518 45566519 - C INS ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_ins c.961_960 p.P320fs 1.000:0.989 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7C HGNC ENSG00000184828 82 0 0 74 21 22.1053 CTIF 0 genome.wustl.edu 37 18 46284653 46284654 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 46284653 46284654 - G INS CTIF ENST00000382998 human ensembl 74_37 +1 known frame_shift_ins c.948_949 p.P318fs 0.410:0.658 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 112 0 0 110 14 11.2903 WDR7 0 genome.wustl.edu 37 18 54358513 54358513 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 54358513 54358513 G - DEL WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_del c.784 p.D264fs 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 186 0 0 150 9 5.66038 CPLX4 0 genome.wustl.edu 37 18 56979972 56979972 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 56979972 56979972 T - DEL CPLX4 ENST00000299721 human ensembl 74_37 -1 known frame_shift_del c.200 p.K67fs 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC ENSG00000166569 98 0 0 74 8 9.7561 PIGN 0 genome.wustl.edu 37 18 59777146 59777147 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 59777146 59777147 - A INS PIGN ENST00000357637 human ensembl 74_37 -1 known frame_shift_ins c.1495_1494 p.L498fs 1.000:1.000 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 197 0 0 119 29 19.5946 VPS4B 0 genome.wustl.edu 37 18 61067828 61067829 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 61067828 61067829 - A INS VPS4B ENST00000238497 human ensembl 74_37 -1 known frame_shift_ins c.593_592 p.S198fs 1.000:1.000 pfam_ATPase_AAA_core,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 98 0 0 62 15 19.4805 SERPINB7 0 genome.wustl.edu 37 18 61460422 61460423 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 61460422 61460423 - T INS SERPINB7 ENST00000336429 human ensembl 74_37 +1 known frame_shift_ins c.247_248 p.S85fs 0.120:0.157 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 87 0 0 72 7 8.86076 RTTN 0 genome.wustl.edu 37 18 67697249 67697249 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 67697249 67697249 T - DEL RTTN ENST00000255674 human ensembl 74_37 -1 known frame_shift_del c.5744 p.K1915fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 140 1 0.70922 122 11 8.27068 CBLN2 0 genome.wustl.edu 37 18 70205945 70205945 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 70205945 70205945 T - DEL CBLN2 ENST00000269503 human ensembl 74_37 -1 known frame_shift_del c.420 p.I142fs 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 104 0 0 82 10 10.8696 TSHZ1 0 genome.wustl.edu 37 18 72998442 72998443 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 18 72998442 72998443 - C INS TSHZ1 ENST00000580243 human ensembl 74_37 +1 known frame_shift_ins c.1080_1081 p.C362fs 0.877:0.898 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 60 0 0 46 8 14.8148 DNMT1 0 genome.wustl.edu 37 19 10271067 10271068 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 10271067 10271068 - G INS DNMT1 ENST00000359526 human ensembl 74_37 -1 known frame_shift_ins c.1036_1035 p.K345fs 0.665:0.576 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 66 0 0 50 13 20.6349 ZNF878 0 genome.wustl.edu 37 19 12155708 12155709 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12155708 12155709 - T INS ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_ins c.649_648 p.P216fs 0.155:0.168 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 ZNF878 HGNC ENSG00000257446 337 0 0 233 54 18.8153 ZNF136 0 genome.wustl.edu 37 19 12296931 12296931 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12296931 12296931 A - DEL ZNF136 ENST00000343979 human ensembl 74_37 +1 known frame_shift_del c.133 p.K46fs 0.002 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF136 HGNC ENSG00000196646 54 0 0 20 7 25.9259 C19orf26 0 genome.wustl.edu 37 19 1231197 1231197 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 1231197 1231197 G - DEL C19orf26 ENST00000382477 human ensembl 74_37 -1 known frame_shift_del c.1117 p.Q373fs 0.957 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 74 0 0 78 7 8.23529 ZNF442 0 genome.wustl.edu 37 19 12460857 12460857 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 12460857 12460857 T - DEL ZNF442 ENST00000242804 human ensembl 74_37 -1 known frame_shift_del c.1542 p.K514fs 1.000 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 ZNF442 HGNC ENSG00000198342 151 0 0 127 11 7.97101 CACNA1A 0 genome.wustl.edu 37 19 13414640 13414640 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 13414640 13414640 C - DEL CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_del c.2045 p.G682fs 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 206 0 0 206 11 5.06912 CHERP 0 genome.wustl.edu 37 19 16633994 16633994 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 16633994 16633994 G - DEL CHERP ENST00000546361 human ensembl 74_37 -1 known frame_shift_del c.1849 p.H617fs 0.998 NULL pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 110 0 0 95 17 15.1786 OCEL1 0 genome.wustl.edu 37 19 17337542 17337542 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17337542 17337542 C - DEL OCEL1 ENST00000215061 human ensembl 74_37 +1 known frame_shift_del c.110 p.R39fs 0.001 NULL pfam_Occludin_RNApol2_elong_fac_ELL - no_errors OCEL1 HGNC ENSG00000099330 11 0 0 11 2 15.3846 ANKLE1 0 genome.wustl.edu 37 19 17394488 17394488 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 17394488 17394488 C - DEL ANKLE1 ENST00000394458 human ensembl 74_37 +1 known frame_shift_del c.915 p.P307fs 0.000 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 80 0 0 63 9 12.5 CRTC1 0 genome.wustl.edu 37 19 18887992 18887993 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 18887992 18887993 - C INS CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_ins c.1753_1754 p.S588fs 1.000:1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 40 0 0 48 9 15.7895 TMEM161A 0 genome.wustl.edu 37 19 19231817 19231817 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 19231817 19231817 C - DEL TMEM161A ENST00000162044 human ensembl 74_37 -1 known frame_shift_del c.1073 p.R358fs 0.712 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 51 0 0 47 9 16.0714 ZNF626 0 genome.wustl.edu 37 19 20808338 20808338 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 20808338 20808338 T - DEL ZNF626 ENST00000601440 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF626 HGNC ENSG00000188171 164 0 0 85 18 17.4757 ZNF43 0 genome.wustl.edu 37 19 21992491 21992491 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 21992491 21992491 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.348 p.D117fs 0.003 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 159 1 0.625 127 10 7.29927 ZNF676 0 genome.wustl.edu 37 19 22364272 22364272 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 22364272 22364272 T - DEL ZNF676 ENST00000397121 human ensembl 74_37 -1 known frame_shift_del c.247 p.I83fs 0.044 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 135 0 0 100 6 5.66038 C19orf35 0 genome.wustl.edu 37 19 2280883 2280883 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2280883 2280883 G - DEL C19orf35 ENST00000342063 human ensembl 74_37 -1 known frame_shift_del c.48 p.T17fs 0.000 NULL NULL - no_errors C19orf35 HGNC ENSG00000188305 25 0 0 35 7 16.6667 TMPRSS9 0 genome.wustl.edu 37 19 2405436 2405436 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 2405436 2405436 G - DEL TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known frame_shift_del c.633 p.E213fs 0.000 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 92 0 0 77 16 17.2043 TSHZ3 0 genome.wustl.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 31769141 31769142 - C INS TSHZ3 ENST00000240587 human ensembl 74_37 -1 known frame_shift_ins c.1558_1557 p.L519fs 0.119:0.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 223 0 0 193 11 5.39216 ARHGAP33 0 genome.wustl.edu 37 19 36276165 36276165 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36276165 36276165 G - DEL ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known frame_shift_del c.1796 p.G600fs 0.999 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 62 0 0 59 5 7.8125 KIRREL2 0 genome.wustl.edu 37 19 36348058 36348062 + Frame_Shift_Del DEL CTCTT CTCTT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTCTT CTCTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 36348058 36348062 CTCTT - DEL KIRREL2 ENST00000360202 human ensembl 74_37 +1 known frame_shift_del c.37_41 p.F14fs 0.643:0.781:0.799:0.813:0.891 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 39 0 0 49 10 16.9492 ZNF567 0 genome.wustl.edu 37 19 37209872 37209873 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 37209872 37209873 - T INS ZNF567 ENST00000536254 human ensembl 74_37 +1 known frame_shift_ins c.246_247 p.L83fs 0.954:0.641 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF567 HGNC ENSG00000189042 131 0 0 73 8 9.87654 RYR1 0 genome.wustl.edu 37 19 38937348 38937349 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 38937348 38937349 - G INS RYR1 ENST00000359596 human ensembl 74_37 +1 known frame_shift_ins c.740_741 p.A250fs 1.000:0.996 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 82 0 0 89 7 7.29167 SAMD4B 0 genome.wustl.edu 37 19 39866351 39866351 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 39866351 39866351 C - DEL SAMD4B ENST00000314471 human ensembl 74_37 +1 known frame_shift_del c.729 p.Q245fs 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM - no_errors SAMD4B HGNC ENSG00000179134 199 0 0 242 17 6.56371 DYRK1B 0 genome.wustl.edu 37 19 40316612 40316612 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40316612 40316612 G - DEL DYRK1B ENST00000323039 human ensembl 74_37 -1 known frame_shift_del c.1633 p.Q545fs 0.436 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 DYRK1B HGNC ENSG00000105204 68 0 0 60 14 18.9189 MAP3K10 0 genome.wustl.edu 37 19 40715080 40715080 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 40715080 40715080 C - DEL MAP3K10 ENST00000253055 human ensembl 74_37 +1 known frame_shift_del c.1506 p.P504fs 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 108 0 0 113 10 8.13008 AXL 0 genome.wustl.edu 37 19 41744385 41744385 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41744385 41744385 C - DEL AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_del c.1005 p.P337fs 0.997 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 68 0 0 59 12 16.9014 AXL 0 genome.wustl.edu 37 19 41765646 41765647 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41765646 41765647 - C INS AXL ENST00000301178 human ensembl 74_37 +1 known frame_shift_ins c.2522_2523 p.T844fs 0.990:0.824 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 44 0 0 42 7 14.2857 BCKDHA 0 genome.wustl.edu 37 19 41916544 41916544 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 41916544 41916544 C - DEL BCKDHA ENST00000595085 human ensembl 74_37 +1 known frame_shift_del c.213 p.R74fs 0.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 47 0 0 58 6 9.375 CIC 0 genome.wustl.edu 37 19 42791268 42791268 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42791268 42791268 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.328 p.P111fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 57 0 0 47 12 20.339 CIC 0 genome.wustl.edu 37 19 42799098 42799098 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 42799098 42799098 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.4582 p.P1529fs 0.722 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 35 0 0 37 5 11.9048 CD3EAP 0 genome.wustl.edu 37 19 45911723 45911723 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45911723 45911723 C - DEL CD3EAP ENST00000589804 human ensembl 74_37 +1 known frame_shift_del c.503 p.N170fs 0.000 pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 69 0 0 63 13 17.1053 CD3EAP 0 genome.wustl.edu 37 19 45912198 45912199 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 45912198 45912199 - C INS CD3EAP ENST00000589804 human ensembl 74_37 +1 known frame_shift_ins c.978_979 p.T328fs 0.000:0.002 NULL pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors CD3EAP HGNC ENSG00000117877 120 0 0 124 7 5.34351 ZC3H4 0 genome.wustl.edu 37 19 47570462 47570462 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 47570462 47570462 G - DEL ZC3H4 ENST00000253048 human ensembl 74_37 -1 known frame_shift_del c.3063 p.N1022fs 0.812 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 58 0 0 34 6 15 GLTSCR1 0 genome.wustl.edu 37 19 48197715 48197715 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48197715 48197715 C - DEL GLTSCR1 ENST00000396720 human ensembl 74_37 +1 known frame_shift_del c.2627 p.H878fs 0.968 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 12 0 0 5 3 37.5 CABP5 0 genome.wustl.edu 37 19 48537535 48537535 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 48537535 48537535 G - DEL CABP5 ENST00000293255 human ensembl 74_37 -1 known frame_shift_del c.433 p.R145fs 0.088 pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP5 HGNC ENSG00000105507 42 0 0 39 10 20.4082 RUVBL2 0 genome.wustl.edu 37 19 49518943 49518946 + Frame_Shift_Del DEL AGTA AGTA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AGTA AGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49518943 49518946 AGTA - DEL RUVBL2 ENST00000595090 human ensembl 74_37 +1 known frame_shift_del c.1366 p.G457fs 1.000 NULL pfam_TIP49_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_DnaB-like_C,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_AAA+_ATPase,prints_DNA_repair_RadA - no_errors RUVBL2 HGNC ENSG00000183207 47 0 0 50 10 16.6667 PPFIA3 0 genome.wustl.edu 37 19 49649227 49649229 + In_Frame_Del DEL GAG GAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 49649227 49649229 GAG - DEL PPFIA3 ENST00000334186 human ensembl 74_37 +1 known in_frame_del c.2773_2775 p.E926in_frame_del 1.000:1.000:0.996 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 67 0 0 41 8 16.3265 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 33 0 0 47 11 18.9655 SIGLEC12 0 genome.wustl.edu 37 19 52004836 52004836 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52004836 52004836 T - DEL SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known frame_shift_del c.152 p.N51fs 0.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 68 0 0 72 5 6.49351 FPR3 0 genome.wustl.edu 37 19 52327875 52327875 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52327875 52327875 T - DEL FPR3 ENST00000339223 human ensembl 74_37 +1 known frame_shift_del c.874 p.F293fs 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Formyl_pep_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt - no_errors FPR3 HGNC ENSG00000187474 260 0 0 154 46 23 ZNF616 0 genome.wustl.edu 37 19 52618188 52618188 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 52618188 52618188 T - DEL ZNF616 ENST00000600228 human ensembl 74_37 -1 known frame_shift_del c.2229 p.K743fs 0.924 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 ZNF616 HGNC ENSG00000204611 130 0 0 126 10 7.35294 ZNF808 0 genome.wustl.edu 37 19 53057692 53057692 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 53057692 53057692 A - DEL ZNF808 ENST00000359798 human ensembl 74_37 +1 known frame_shift_del c.1523 p.K509fs 1.000 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 ZNF808 HGNC ENSG00000198482 191 0 0 160 9 5.32544 TMC4 0 genome.wustl.edu 37 19 54675768 54675769 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 54675768 54675769 - C INS TMC4 ENST00000301187 human ensembl 74_37 -1 known frame_shift_ins c.164_163 p.A55fs 0.001:0.013 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 53 0 0 70 7 9.09091 KIR2DL4 0 genome.wustl.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 55324675 55324675 A - DEL KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known frame_shift_del c.796 p.V269fs 0.003 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 31 0 0 21 7 25 NLRP11 0 genome.wustl.edu 37 19 56303730 56303730 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 56303730 56303730 T - DEL NLRP11 ENST00000443188 human ensembl 74_37 -1 known frame_shift_del c.2450 p.N817fs 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP11 HGNC ENSG00000179873 169 0 0 126 24 16 PEG3 0 genome.wustl.edu 37 19 57327156 57327156 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 57327156 57327156 C - DEL PEG3 ENST00000326441 human ensembl 74_37 -1 known frame_shift_del c.2654 p.G885fs 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 109 0 0 103 7 6.36364 ZNF773 0 genome.wustl.edu 37 19 58018164 58018164 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 58018164 58018164 T - DEL ZNF773 ENST00000282292 human ensembl 74_37 +1 known frame_shift_del c.701 p.F235fs 0.548 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 ZNF773 HGNC ENSG00000152439 96 0 0 56 18 24.3243 FGF22 0 genome.wustl.edu 37 19 643528 643528 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 643528 643528 G - DEL FGF22 ENST00000215530 human ensembl 74_37 +1 known frame_shift_del c.437 p.150fs 0.001 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF22 HGNC ENSG00000070388 19 0 0 16 5 23.8095 DENND1C 0 genome.wustl.edu 37 19 6475582 6475582 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 6475582 6475582 T - DEL DENND1C ENST00000381480 human ensembl 74_37 -1 known frame_shift_del c.840 p.A281fs 0.071 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 DENND1C HGNC ENSG00000205744 100 0 0 71 9 11.25 MUC16 0 genome.wustl.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9064309 9064310 - G INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.23137_23136 p.S7712fs 0.000:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 85 0 0 79 12 13.1868 MUC16 0 genome.wustl.edu 37 19 9077823 9077824 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9077823 9077824 - T INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.9623_9622 p.I3208fs 0.000:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 264 0 0 211 16 7.04846 OR7D4 0 genome.wustl.edu 37 19 9325203 9325203 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 19 9325203 9325203 A - DEL OR7D4 ENST00000308682 human ensembl 74_37 -1 known frame_shift_del c.311 p.L104fs 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 86 0 0 65 12 15.5844 SNORD89 0 genome.wustl.edu 37 2 101889497 101889499 + RNA DEL TCA TCA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 101889497 101889499 TCA - DEL SNORD89 ENST00000390981 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000 - - - no_errors SNORD89 HGNC ENSG00000212283 95 0 0 93 5 5.10204 IL1R1 0 genome.wustl.edu 37 2 102781255 102781255 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 102781255 102781255 A - DEL IL1R1 ENST00000233946 human ensembl 74_37 +1 known frame_shift_del c.83 p.I30fs 0.000 smart_Ig_sub,prints_IL-1_rcpt_I-typ pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R1 HGNC ENSG00000115594 58 0 0 19 12 38.7097 SLC9A4 0 genome.wustl.edu 37 2 103125345 103125345 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 103125345 103125345 A - DEL SLC9A4 ENST00000295269 human ensembl 74_37 +1 known frame_shift_del c.1441 p.T483fs 1.000 tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC ENSG00000180251 154 0 0 101 23 18.5484 TMEM182 0 genome.wustl.edu 37 2 103414435 103414435 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 103414435 103414435 G - DEL TMEM182 ENST00000412401 human ensembl 74_37 +1 known frame_shift_del c.445 p.G150fs 1.000 NULL NULL - no_errors TMEM182 HGNC ENSG00000170417 163 0 0 121 12 9.02256 NOL10 0 genome.wustl.edu 37 2 10729348 10729348 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 10729348 10729348 T - DEL NOL10 ENST00000381685 human ensembl 74_37 -1 known frame_shift_del c.1665 p.A556fs 0.198 NULL pfam_NUC153,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors NOL10 HGNC ENSG00000115761 124 0 0 109 9 7.62712 GCC2 0 genome.wustl.edu 37 2 109087883 109087884 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109087883 109087884 - A INS GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_ins c.2098_2099 p.Q703fs 0.998:1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 408 0 0 261 16 5.77617 GCC2 0 genome.wustl.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109087914 109087914 T - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.2129 p.L712fs 0.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 384 0 0 245 19 7.19697 RANBP2 0 genome.wustl.edu 37 2 109369546 109369546 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109369546 109369546 A - DEL RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_del c.1848 p.K618fs 0.998 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 416 0 0 301 26 7.95107 CCDC138 0 genome.wustl.edu 37 2 109421455 109421455 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 109421455 109421455 A - DEL CCDC138 ENST00000295124 human ensembl 74_37 +1 known frame_shift_del c.846 p.K284fs 0.996 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 74 0 0 47 13 21.6667 SOWAHC 0 genome.wustl.edu 37 2 110373197 110373197 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 110373197 110373197 G - DEL SOWAHC ENST00000356454 human ensembl 74_37 +1 known frame_shift_del c.1131 p.A378fs 0.981 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHC HGNC ENSG00000198142 51 0 0 41 12 22.6415 SLC20A1 0 genome.wustl.edu 37 2 113416607 113416608 + Frame_Shift_Del DEL AG AG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 113416607 113416608 AG - DEL SLC20A1 ENST00000272542 human ensembl 74_37 +1 known frame_shift_del c.984_985 p.R332fs 0.023:0.531 pfam_Phos_transporter pfam_Phos_transporter - no_errors SLC20A1 HGNC ENSG00000144136 83 0 0 84 8 8.69565 RND3 0 genome.wustl.edu 37 2 151331469 151331469 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 151331469 151331469 G - DEL RND3 ENST00000263895 human ensembl 74_37 -1 known frame_shift_del c.268 p.L90fs 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND3 HGNC ENSG00000115963 101 0 0 67 8 10.6667 RIF1 0 genome.wustl.edu 37 2 152326345 152326345 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152326345 152326345 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.7062 p.K2356fs 0.991 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 131 0 0 86 18 17.3077 NEB 0 genome.wustl.edu 37 2 152522612 152522613 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152522612 152522613 - A INS NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_ins c.5023_5022 p.Q1674fs 1.000:0.724 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 118 0 0 86 11 11.3402 NEB 0 genome.wustl.edu 37 2 152553966 152553966 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 152553966 152553966 T - DEL NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_del c.1263 p.K421fs 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 151 0 0 118 10 7.8125 PRPF40A 0 genome.wustl.edu 37 2 153572534 153572534 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 153572534 153572534 G - DEL PRPF40A ENST00000410080 human ensembl 74_37 -1 known frame_shift_del c.191 p.P64fs 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1 - no_errors PRPF40A HGNC ENSG00000196504 216 1 0.460829 164 10 5.74713 KCNJ3 0 genome.wustl.edu 37 2 155711679 155711679 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 155711679 155711679 A - DEL KCNJ3 ENST00000295101 human ensembl 74_37 +1 known frame_shift_del c.1360 p.T455fs 1.000 prints_K_chnl_inward-rec_Kir3.1 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 94 0 0 80 7 8.04598 SCN3A 0 genome.wustl.edu 37 2 166011130 166011130 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 166011130 166011130 A - DEL SCN3A ENST00000283254 human ensembl 74_37 -1 known frame_shift_del c.1212 p.F404fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 102 0 0 74 20 21.2766 NOSTRIN 0 genome.wustl.edu 37 2 169699539 169699539 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 169699539 169699539 A - DEL NOSTRIN ENST00000444448 human ensembl 74_37 +1 known frame_shift_del c.542 p.K182fs 0.998 NULL pfam_SH3_domain,pfam_SH3_2,pfam_FCH_dom,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors NOSTRIN HGNC ENSG00000163072 69 0 0 50 9 15.2542 GPR155 0 genome.wustl.edu 37 2 175326315 175326315 + Splice_Site DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 175326315 175326315 C - DEL GPR155 ENST00000295500 human ensembl 74_37 -1 known splice_site_del c.1469+1 e7+1 1.000 - - - no_errors GPR155 HGNC ENSG00000163328 188 0 0 114 20 14.9254 HOXD8 0 genome.wustl.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 176995417 176995417 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.323 p.P110fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 59 0 0 52 8 13.3333 HOXD8 0 genome.wustl.edu 37 2 176995458 176995458 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 176995458 176995458 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.364 p.C124fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 163 0 0 142 11 7.18954 SMC6 0 genome.wustl.edu 37 2 17864968 17864968 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 17864968 17864968 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.2819 p.K940fs 0.931 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 197 0 0 147 17 10.3659 FKBP7 0 genome.wustl.edu 37 2 179343217 179343217 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179343217 179343217 T - DEL FKBP7 ENST00000424785 human ensembl 74_37 -1 known frame_shift_del c.10 p.T4fs 0.005 NULL pfam_PPIase_FKBP_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP7 HGNC ENSG00000079150 278 0 0 182 12 6.18557 TTN 0 genome.wustl.edu 37 2 179527715 179527716 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 179527715 179527716 - T INS TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_ins c.31551_31550 p.P10518fs 0.000:0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 125 0 0 102 8 7.27273 TMEFF2 0 genome.wustl.edu 37 2 192818525 192818525 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 192818525 192818525 T - DEL TMEFF2 ENST00000272771 human ensembl 74_37 -1 known frame_shift_del c.908 p.K303fs 1.000 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 95 0 0 99 6 5.71429 ANKRD44 0 genome.wustl.edu 37 2 197948166 197948166 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 197948166 197948166 C - DEL ANKRD44 ENST00000328737 human ensembl 74_37 -1 known frame_shift_del c.1309 p.A437fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 96 0 0 80 5 5.88235 SGOL2 0 genome.wustl.edu 37 2 201436289 201436289 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 201436289 201436289 A - DEL SGOL2 ENST00000357799 human ensembl 74_37 +1 known frame_shift_del c.1220 p.K409fs 0.134 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 154 0 0 97 16 14.1593 AOX1 0 genome.wustl.edu 37 2 201501681 201501681 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 201501681 201501681 C - DEL AOX1 ENST00000374700 human ensembl 74_37 +1 known frame_shift_del c.2394 p.H799fs 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase 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_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 81 0 0 65 6 8.4507 CRYGA 0 genome.wustl.edu 37 2 209025577 209025577 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 209025577 209025577 C - DEL CRYGA ENST00000304502 human ensembl 74_37 -1 known frame_shift_del c.476 p.G159fs 0.651 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 136 0 0 126 10 7.35294 MAP2 0 genome.wustl.edu 37 2 210561667 210561667 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 210561667 210561667 A - DEL MAP2 ENST00000360351 human ensembl 74_37 +1 known frame_shift_del c.4414 p.T1474fs 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 80 0 0 37 17 31.4815 KANSL1L 0 genome.wustl.edu 37 2 211019062 211019062 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 211019062 211019062 A - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.245 p.L82fs 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 148 0 0 89 9 9.18367 BARD1 0 genome.wustl.edu 37 2 215645635 215645635 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215645635 215645635 T - DEL BARD1 ENST00000260947 human ensembl 74_37 -1 known frame_shift_del c.963 p.K321fs 0.133 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 140 0 0 100 11 9.90991 ABCA12 0 genome.wustl.edu 37 2 215855685 215855685 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 215855685 215855685 A - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.3365 p.L1122fs 0.942 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 127 0 0 94 8 7.84314 ABCB6 0 genome.wustl.edu 37 2 220083094 220083095 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220083094 220083095 - C INS ABCB6 ENST00000265316 human ensembl 74_37 -1 known frame_shift_ins c.302_301 p.A101fs 0.001:0.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 58 0 0 25 9 26.4706 TUBA4B 0 genome.wustl.edu 37 2 220136311 220136312 + RNA INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220136311 220136312 - C INS TUBA4B ENST00000473885 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors TUBA4B HGNC ENSG00000243910 79 0 0 60 11 15.493 PTPRN 0 genome.wustl.edu 37 2 220166975 220166976 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 220166975 220166976 - C INS PTPRN ENST00000295718 human ensembl 74_37 -1 known frame_shift_ins c.878_877 p.V293fs 0.007:0.020 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 44 0 0 31 17 35.4167 PSMD1 0 genome.wustl.edu 37 2 231931680 231931680 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 231931680 231931680 A - DEL PSMD1 ENST00000308696 human ensembl 74_37 +1 known frame_shift_del c.365 p.K124fs 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 30 0 0 18 6 25 EFHD1 0 genome.wustl.edu 37 2 233527580 233527580 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 233527580 233527580 C - DEL EFHD1 ENST00000264059 human ensembl 74_37 +1 known frame_shift_del c.371 p.Q126fs 1.000 pfscan_EF_hand_dom smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFHD1 HGNC ENSG00000115468 62 0 0 60 7 10.4478 UGT1A4 0 genome.wustl.edu 37 2 234628250 234628250 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 234628250 234628250 G - DEL UGT1A4 ENST00000373409 human ensembl 74_37 +1 known frame_shift_del c.784 p.V262fs 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 285 0 0 231 52 18.3746 TRPM8 0 genome.wustl.edu 37 2 234879010 234879010 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 234879010 234879010 C - DEL TRPM8 ENST00000324695 human ensembl 74_37 +1 known frame_shift_del c.2295 p.E768fs 0.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 378 0 0 356 23 6.0686 LRRFIP1 0 genome.wustl.edu 37 2 238688132 238688132 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 238688132 238688132 A - DEL LRRFIP1 ENST00000308482 human ensembl 74_37 +1 putative frame_shift_del c.1880 p.M629fs 1.000 NULL pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin - no_errors LRRFIP1 HGNC ENSG00000124831 66 0 0 59 7 10.6061 HDAC4 0 genome.wustl.edu 37 2 240002822 240002823 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 240002822 240002823 - G INS HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_ins c.2704_2703 p.M901fs 1.000:1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 47 0 0 46 6 11.5385 OTOF 0 genome.wustl.edu 37 2 26686909 26686909 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26686909 26686909 G - DEL OTOF ENST00000272371 human ensembl 74_37 -1 known frame_shift_del c.5026 p.R1676fs 0.997 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 91 0 0 99 23 18.8525 OTOF 0 genome.wustl.edu 37 2 26693553 26693554 + In_Frame_Ins INS - - CTT TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 26693553 26693554 - CTT INS OTOF ENST00000272371 human ensembl 74_37 -1 known in_frame_ins c.3931_3930 p.1310in_frame_insK 1.000:0.998 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors OTOF HGNC ENSG00000115155 62 0 0 61 7 10.2941 EMILIN1 0 genome.wustl.edu 37 2 27305786 27305786 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27305786 27305786 G - DEL EMILIN1 ENST00000380320 human ensembl 74_37 +1 known frame_shift_del c.1347 p.L452fs 0.997 NULL pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN1 HGNC ENSG00000138080 29 0 0 20 8 28.5714 ZNF513 0 genome.wustl.edu 37 2 27603013 27603018 + In_Frame_Del DEL TCCTCT TCCTCT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 TCCTCT TCCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27603013 27603018 TCCTCT - DEL ZNF513 ENST00000323703 human ensembl 74_37 -1 known in_frame_del c.158_153 p.EE53in_frame_del 0.999:1.000:1.000:1.000:1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 181 0 0 148 10 6.32911 NRBP1 0 genome.wustl.edu 37 2 27658018 27658018 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27658018 27658018 C - DEL NRBP1 ENST00000233557 human ensembl 74_37 +1 known frame_shift_del c.585 p.I198fs 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 NRBP1 HGNC ENSG00000115216 59 0 0 54 7 11.4754 IFT172 0 genome.wustl.edu 37 2 27703943 27703943 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 27703943 27703943 C - DEL IFT172 ENST00000260570 human ensembl 74_37 -1 known frame_shift_del c.755 p.G252fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 69 0 0 53 14 20.8955 TTC27 0 genome.wustl.edu 37 2 32859010 32859010 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 32859010 32859010 C - DEL TTC27 ENST00000317907 human ensembl 74_37 +1 known frame_shift_del c.334 p.P113fs 0.988 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 157 0 0 110 8 6.77966 FAM98A 0 genome.wustl.edu 37 2 33813402 33813402 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 33813402 33813402 T - DEL FAM98A ENST00000238823 human ensembl 74_37 -1 known frame_shift_del c.522 p.K174fs 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 170 0 0 120 24 16.6667 FAM98A 0 genome.wustl.edu 37 2 33813525 33813525 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 33813525 33813525 T - DEL FAM98A ENST00000238823 human ensembl 74_37 -1 known frame_shift_del c.399 p.A134fs 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 137 0 0 107 6 5.30973 THADA 0 genome.wustl.edu 37 2 43800083 43800084 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 43800083 43800084 - C INS THADA ENST00000405006 human ensembl 74_37 -1 known frame_shift_ins c.1778_1777 p.A593fs 0.990:0.849 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 87 0 0 61 16 20.7792 FOXN2 0 genome.wustl.edu 37 2 48573667 48573667 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 48573667 48573667 A - DEL FOXN2 ENST00000340553 human ensembl 74_37 +1 known frame_shift_del c.314 p.K107fs 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN2 HGNC ENSG00000170802 159 0 0 115 17 12.8788 EHBP1 0 genome.wustl.edu 37 2 63092022 63092023 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 63092022 63092023 - A INS EHBP1 ENST00000263991 human ensembl 74_37 +1 known frame_shift_ins c.1019_1020 p.R342fs 1.000:1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 173 0 0 104 12 10.3448 EHBP1 0 genome.wustl.edu 37 2 63206352 63206353 + Frame_Shift_Del DEL GA GA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 63206352 63206353 GA - DEL EHBP1 ENST00000263991 human ensembl 74_37 +1 known frame_shift_del c.2595_2596 p.R868fs 1.000:1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 96 0 0 71 7 8.97436 RAB11FIP5 0 genome.wustl.edu 37 2 73302665 73302665 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73302665 73302665 G - DEL RAB11FIP5 ENST00000258098 human ensembl 74_37 -1 known frame_shift_del c.1946 p.P649fs 0.080 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP5 HGNC ENSG00000135631 85 0 0 70 6 7.89474 CCT7 0 genome.wustl.edu 37 2 73479767 73479767 + Splice_Site DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 73479767 73479767 G - DEL CCT7 ENST00000258091 human ensembl 74_37 +1 known splice_site_del c.1411-1 e12-1 1.000 - - - no_errors CCT7 HGNC ENSG00000135624 97 0 0 81 11 11.9565 DUSP11 0 genome.wustl.edu 37 2 74007024 74007026 + In_Frame_Del DEL CTT CTT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74007024 74007026 CTT - DEL DUSP11 ENST00000272444 human ensembl 74_37 -1 known in_frame_del c.219_217 p.K73in_frame_del 1.000:0.999:0.993 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase - no_errors DUSP11 HGNC ENSG00000144048 113 0 0 93 11 10.5769 LOXL3 0 genome.wustl.edu 37 2 74763924 74763924 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74763924 74763924 C - DEL LOXL3 ENST00000264094 human ensembl 74_37 -1 known frame_shift_del c.824 p.G275fs 0.001 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 100 0 0 78 19 19.5876 DOK1 0 genome.wustl.edu 37 2 74781909 74781910 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 74781909 74781910 - T INS DOK1 ENST00000233668 human ensembl 74_37 +1 known frame_shift_ins c.28_29 p.L12fs 1.000:0.996 smart_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 45 0 0 37 5 11.9048 TCF7L1 0 genome.wustl.edu 37 2 85532498 85532498 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 85532498 85532498 C - DEL TCF7L1 ENST00000282111 human ensembl 74_37 +1 known frame_shift_del c.961 p.S323fs 0.298 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L1 HGNC ENSG00000152284 48 0 0 39 6 13.3333 RNF103 0 genome.wustl.edu 37 2 86832076 86832077 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 86832076 86832077 - A INS RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_ins c.948_947 p.L316fs 1.000:1.000 superfamily_Thioredoxin-like_fold pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 142 0 0 116 8 6.45161 KIDINS220 0 genome.wustl.edu 37 2 8871611 8871612 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 8871611 8871612 - T INS KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_ins c.4555_4554 p.L1518fs 1.000:0.969 NULL pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 120 0 0 99 8 7.47664 MRPS5 0 genome.wustl.edu 37 2 95780889 95780890 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 95780889 95780890 - T INS MRPS5 ENST00000272418 human ensembl 74_37 -1 known frame_shift_ins c.199_198 p.L66fs 0.004:0.000 NULL pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N - no_errors MRPS5 HGNC ENSG00000144029 138 0 0 86 21 19.6262 ZNF514 0 genome.wustl.edu 37 2 95815035 95815035 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 95815035 95815035 T - DEL ZNF514 ENST00000295208 human ensembl 74_37 -1 known frame_shift_del c.1195 p.T399fs 0.000 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 ZNF514 HGNC ENSG00000144026 117 0 0 97 31 24.2188 LIPT1 0 genome.wustl.edu 37 2 99778504 99778504 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 2 99778504 99778504 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.84 p.N30fs 0.031 NULL pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 128 0 0 95 8 7.76699 FLRT3 0 genome.wustl.edu 37 20 14306924 14306925 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 14306924 14306925 - T INS FLRT3 ENST00000341420 human ensembl 74_37 -1 known frame_shift_ins c.1229_1228 p.T410fs 1.000:1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 261 0 0 223 15 6.30252 CD93 0 genome.wustl.edu 37 20 23065992 23065992 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 23065992 23065992 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.838 p.D280fs 0.033 pirsf_CD93/CD141,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 136 0 0 126 22 14.8649 GGTLC1 0 genome.wustl.edu 37 20 23966737 23966738 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 23966737 23966738 - G INS GGTLC1 ENST00000278765 human ensembl 74_37 -1 known frame_shift_ins c.280_279 p.S93fs 1.000:0.997 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC1 HGNC ENSG00000149435 139 0 0 126 12 8.69565 PDRG1 0 genome.wustl.edu 37 20 30534348 30534348 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 30534348 30534348 T - DEL PDRG1 ENST00000202017 human ensembl 74_37 -1 known frame_shift_del c.270 p.K90fs 0.791 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 171 0 0 174 18 9.375 BPIFB4 0 genome.wustl.edu 37 20 31671238 31671238 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 31671238 31671238 A - DEL BPIFB4 ENST00000375483 human ensembl 74_37 +1 known frame_shift_del c.235 p.K80fs 0.993 NULL pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 110 1 0.900901 102 11 9.73451 CPNE1 0 genome.wustl.edu 37 20 34220730 34220730 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 34220730 34220730 C - DEL CPNE1 ENST00000317677 human ensembl 74_37 -1 known frame_shift_del c.131 p.G44fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 86 0 0 84 15 15.1515 RBM12 0 genome.wustl.edu 37 20 34241335 34241335 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 34241335 34241335 T - DEL RBM12 ENST00000359646 human ensembl 74_37 -1 known frame_shift_del c.1910 p.K637fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 99 0 0 113 9 7.37705 CTNNBL1 0 genome.wustl.edu 37 20 36361416 36361416 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 36361416 36361416 A - DEL CTNNBL1 ENST00000405275 human ensembl 74_37 +1 known frame_shift_del c.85 p.R31fs 1.000 pfam_CTNNBL1_N pfam_CTNNBL1_N,superfamily_ARM-type_fold - no_errors CTNNBL1 HGNC ENSG00000132792 42 0 0 21 14 40 L3MBTL1 0 genome.wustl.edu 37 20 42159498 42159498 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 42159498 42159498 C - DEL L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known frame_shift_del c.1187 p.K398fs 1.000 smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 35 0 0 26 6 18.75 SLC12A5 0 genome.wustl.edu 37 20 44664156 44664156 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 44664156 44664156 A - DEL SLC12A5 ENST00000454036 human ensembl 74_37 +1 known frame_shift_del c.330 p.K112fs 0.989 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 42 0 0 52 8 13.3333 ZNF334 0 genome.wustl.edu 37 20 45130769 45130769 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 45130769 45130769 T - DEL ZNF334 ENST00000347606 human ensembl 74_37 -1 known frame_shift_del c.1209 p.K403fs 0.999 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF334 HGNC ENSG00000198185 147 1 0.675676 107 22 17.0543 ZMYND8 0 genome.wustl.edu 37 20 45875072 45875072 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 45875072 45875072 T - DEL ZMYND8 ENST00000536340 human ensembl 74_37 -1 known frame_shift_del c.1985 p.K662fs 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 285 0 0 203 41 16.8033 NCOA3 0 genome.wustl.edu 37 20 46264348 46264348 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 46264348 46264348 C - DEL NCOA3 ENST00000371998 human ensembl 74_37 +1 known frame_shift_del c.1395 p.P467fs 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 98 0 0 72 6 7.69231 PREX1 0 genome.wustl.edu 37 20 47266692 47266693 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47266692 47266693 - G INS PREX1 ENST00000371941 human ensembl 74_37 -1 known frame_shift_ins c.2870_2869 p.L957fs 0.713:0.684 NULL 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 162 0 0 128 12 8.57143 ARFGEF2 0 genome.wustl.edu 37 20 47601286 47601286 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47601286 47601286 G - DEL ARFGEF2 ENST00000371917 human ensembl 74_37 +1 known frame_shift_del c.1979 p.I662fs 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF2 HGNC ENSG00000124198 206 0 0 133 24 15.2866 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX27 HGNC ENSG00000124228 125 1 0.793651 71 22 23.6559 ADNP 0 genome.wustl.edu 37 20 49509355 49509355 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 49509355 49509355 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.1896 p.G633fs 1.000 smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 273 0 0 144 44 23.4043 TSHZ2 0 genome.wustl.edu 37 20 51871037 51871039 + In_Frame_Del DEL AGA AGA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 51871037 51871039 AGA - DEL TSHZ2 ENST00000371497 human ensembl 74_37 +1 known in_frame_del c.1040_1042 p.K348in_frame_del 0.997:1.000:1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 143 0 0 123 12 8.88889 SYCP2 0 genome.wustl.edu 37 20 58443507 58443508 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 58443507 58443508 - T INS SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_ins c.3949_3948 p.L1316fs 0.000:0.001 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 268 0 0 176 25 12.4378 BMP2 0 genome.wustl.edu 37 20 6759494 6759494 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 20 6759494 6759494 C - DEL BMP2 ENST00000378827 human ensembl 74_37 +1 known frame_shift_del c.949 p.P318fs 1.000 pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP2 HGNC ENSG00000125845 102 0 0 103 13 11.2069 TPTE 0 genome.wustl.edu 37 21 10944703 10944704 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 10944703 10944704 - C INS TPTE ENST00000361285 human ensembl 74_37 -1 known frame_shift_ins c.531_530 p.I177fs 0.015:0.009 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 494 0 0 339 30 8.13008 USP25 0 genome.wustl.edu 37 21 17177457 17177457 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 17177457 17177457 T - DEL USP25 ENST00000400183 human ensembl 74_37 +1 known frame_shift_del c.660 p.F221fs 0.995 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP25 HGNC ENSG00000155313 88 0 0 44 18 29.0323 DOPEY2 0 genome.wustl.edu 37 21 37597906 37597906 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 37597906 37597906 C - DEL DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_del c.1414 p.T474fs 0.010 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 72 0 0 51 8 13.5593 DSCAM 0 genome.wustl.edu 37 21 41725417 41725418 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 41725417 41725418 - T INS DSCAM ENST00000400454 human ensembl 74_37 -1 known frame_shift_ins c.909_908 p.V304fs 1.000:1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 222 0 0 197 13 6.19048 COL18A1 0 genome.wustl.edu 37 21 46900000 46900001 + Frame_Shift_Del DEL GA GA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 46900000 46900001 GA - DEL COL18A1 ENST00000359759 human ensembl 74_37 +1 known frame_shift_del c.2573_2574 p.G861fs 0.031:0.001 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 41 0 0 45 7 13.4615 MCM3AP 0 genome.wustl.edu 37 21 47663396 47663397 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 21 47663396 47663397 - G INS MCM3AP ENST00000291688 human ensembl 74_37 -1 known frame_shift_ins c.5279_5278 p.R1760fs 0.278:0.019 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 161 0 0 176 10 5.37634 ZDHHC8P1 0 genome.wustl.edu 37 22 23744282 23744282 + RNA DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 23744282 23744282 G - DEL ZDHHC8P1 ENST00000255890 human ensembl 74_37 -1 known rna NULL NULL 0.934 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 9 0 0 6 4 40 SNRPD3 0 genome.wustl.edu 37 22 24953712 24953712 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 24953712 24953712 A - DEL SNRPD3 ENST00000215829 human ensembl 74_37 +1 known frame_shift_del c.70 p.T24fs 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD3 HGNC ENSG00000100028 133 0 0 110 14 11.2903 SGSM1 0 genome.wustl.edu 37 22 25264783 25264783 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 25264783 25264783 G - DEL SGSM1 ENST00000400359 human ensembl 74_37 +1 known frame_shift_del c.1252 p.V418fs 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 111 0 0 101 8 7.33945 ZMAT5 0 genome.wustl.edu 37 22 30127247 30127247 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 30127247 30127247 C - DEL ZMAT5 ENST00000344318 human ensembl 74_37 -1 known frame_shift_del c.480 p.W161fs 0.907 NULL pfam_Znf_CCCH,pfam_Znf_U1-C,smart_Znf_CCCH - no_errors ZMAT5 HGNC ENSG00000100319 72 0 0 68 9 11.6883 PRR14L 0 genome.wustl.edu 37 22 32099549 32099549 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 32099549 32099549 G - DEL PRR14L ENST00000397493 human ensembl 74_37 -1 known frame_shift_del c.5987 p.P1996fs 0.508 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 185 0 0 149 8 5.09554 CSF2RB 0 genome.wustl.edu 37 22 37334205 37334205 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 37334205 37334205 C - DEL CSF2RB ENST00000262825 human ensembl 74_37 +1 known frame_shift_del c.2373 p.P793fs 0.000 pirsf_IL3_rcpt_beta pirsf_IL3_rcpt_beta,pfam_Fibronectin_type3,pfam_IL-6_rcpt_alpha-bd,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF2RB HGNC ENSG00000100368 47 0 0 53 9 14.5161 TNRC6B 0 genome.wustl.edu 37 22 40662479 40662480 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 40662479 40662480 - G INS TNRC6B ENST00000454349 human ensembl 74_37 +1 known frame_shift_ins c.2245_2246 p.E751fs 1.000:1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 41 0 0 35 4 10.2564 CELSR1 0 genome.wustl.edu 37 22 46760471 46760471 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 46760471 46760471 G - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.8717 p.P2906fs 0.005 NULL pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 73 0 0 66 5 7.04225 CELSR1 0 genome.wustl.edu 37 22 46931227 46931227 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 46931227 46931227 C - DEL CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_del c.1841 p.G614fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 46 0 0 36 7 16.2791 CERK 0 genome.wustl.edu 37 22 47086002 47086002 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 47086002 47086002 C - DEL CERK ENST00000216264 human ensembl 74_37 -1 known frame_shift_del c.1428 p.K477fs 0.009 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 106 0 0 66 26 28.2609 ZBED4 0 genome.wustl.edu 37 22 50277749 50277749 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50277749 50277749 A - DEL ZBED4 ENST00000216268 human ensembl 74_37 +1 known frame_shift_del c.439 p.N148fs 0.997 pfam_Znf_BED_prd,smart_Znf_BED_prd,pfscan_Znf_BED_prd pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ENSG00000100426 90 0 0 62 17 21.519 PANX2 0 genome.wustl.edu 37 22 50617616 50617616 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 50617616 50617616 G - DEL PANX2 ENST00000395842 human ensembl 74_37 +1 known frame_shift_del c.1944 p.D650fs 0.780 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 33 0 0 35 6 14.6341 ARSA 0 genome.wustl.edu 37 22 51063611 51063611 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 22 51063611 51063611 G - DEL ARSA ENST00000216124 human ensembl 74_37 -1 known frame_shift_del c.1492 p.R498fs 0.004 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSA HGNC ENSG00000100299 15 0 0 12 6 33.3333 KIAA1524 0 genome.wustl.edu 37 3 108279620 108279621 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 108279620 108279621 - T INS KIAA1524 ENST00000295746 human ensembl 74_37 -1 known frame_shift_ins c.1703_1702 p.M568fs 0.603:0.645 NULL superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 180 0 0 163 12 6.85714 KIAA1524 0 genome.wustl.edu 37 3 108287038 108287039 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 108287038 108287039 - T INS KIAA1524 ENST00000295746 human ensembl 74_37 -1 known frame_shift_ins c.1237_1236 p.C412fs 1.000:0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 157 0 0 108 8 6.89655 DZIP3 0 genome.wustl.edu 37 3 108403180 108403181 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 108403180 108403181 - C INS DZIP3 ENST00000361582 human ensembl 74_37 +1 known frame_shift_ins c.3001_3002 p.L1003fs 0.440:0.492 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 321 0 0 314 18 5.42169 DPPA2 0 genome.wustl.edu 37 3 109031523 109031524 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 109031523 109031524 - C INS DPPA2 ENST00000478945 human ensembl 74_37 -1 known frame_shift_ins c.50_49 p.E17fs 0.000:0.000 NULL pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 125 0 0 90 11 10.8911 SLC9C1 0 genome.wustl.edu 37 3 111888106 111888106 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 111888106 111888106 T - DEL SLC9C1 ENST00000305815 human ensembl 74_37 -1 known frame_shift_del c.2989 p.M997fs 1.000 superfamily_cNMP-bd-like pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C1 HGNC ENSG00000172139 109 0 0 82 8 8.88889 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 56 0 0 68 7 9.33333 ZBTB20 0 genome.wustl.edu 37 3 114069198 114069198 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 114069198 114069198 T - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.1727 p.K576fs 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB20 HGNC ENSG00000181722 184 0 0 171 10 5.52486 GAP43 0 genome.wustl.edu 37 3 115394864 115394864 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 115394864 115394864 A - DEL GAP43 ENST00000305124 human ensembl 74_37 +1 known frame_shift_del c.35 p.N14fs 1.000 pfam_Neuromodulin_gap-junction_N,prints_Neuromodulin pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin - no_errors GAP43 HGNC ENSG00000172020 98 0 0 79 7 8.13953 IGSF11 0 genome.wustl.edu 37 3 118647390 118647391 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 118647390 118647391 - C INS IGSF11 ENST00000393775 human ensembl 74_37 -1 known frame_shift_ins c.390_389 p.R131fs 1.000:1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 85 0 0 92 6 6.12245 MAATS1 0 genome.wustl.edu 37 3 119449190 119449190 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 119449190 119449190 A - DEL MAATS1 ENST00000273390 human ensembl 74_37 +1 known frame_shift_del c.984 p.M330fs 0.712 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 224 0 0 173 15 7.97872 POLQ 0 genome.wustl.edu 37 3 121192306 121192306 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 121192306 121192306 G - DEL POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_del c.6434 p.P2145fs 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 381 0 0 240 47 16.3763 EAF2 0 genome.wustl.edu 37 3 121573569 121573569 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 121573569 121573569 A - DEL EAF2 ENST00000273668 human ensembl 74_37 +1 known frame_shift_del c.237 p.K81fs 1.000 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF2 HGNC ENSG00000145088 108 0 0 62 16 20.5128 CCDC14 0 genome.wustl.edu 37 3 123665705 123665705 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 123665705 123665705 T - DEL CCDC14 ENST00000488653 human ensembl 74_37 -1 known frame_shift_del c.1290 p.V431fs 0.940 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 263 0 0 206 17 7.62332 KBTBD12 0 genome.wustl.edu 37 3 127703079 127703079 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 127703079 127703079 C - DEL KBTBD12 ENST00000405109 human ensembl 74_37 +1 known frame_shift_del c.1830 p.P612fs 0.999 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD12 HGNC ENSG00000187715 91 0 0 65 18 21.6867 GATA2 0 genome.wustl.edu 37 3 128204623 128204623 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 128204623 128204623 C - DEL GATA2 ENST00000341105 human ensembl 74_37 -1 known frame_shift_del c.818 p.G273fs 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA2 HGNC ENSG00000179348 31 0 0 39 9 18.75 TMCC1 0 genome.wustl.edu 37 3 129389372 129389373 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 129389372 129389373 - T INS TMCC1 ENST00000393238 human ensembl 74_37 -1 known frame_shift_ins c.1312_1311 p.G437fs 1.000:0.788 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 123 0 0 125 13 9.42029 COL6A6 0 genome.wustl.edu 37 3 130281935 130281935 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 130281935 130281935 T - DEL COL6A6 ENST00000358511 human ensembl 74_37 +1 known frame_shift_del c.88 p.L31fs 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 221 0 0 179 38 17.5115 NPHP3 0 genome.wustl.edu 37 3 132424606 132424607 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 132424606 132424607 - A INS NPHP3 ENST00000337331 human ensembl 74_37 -1 known frame_shift_ins c.1328_1327 p.C443fs 0.970:0.954 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 145 0 0 103 6 5.50459 HDAC11 0 genome.wustl.edu 37 3 13538268 13538268 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 13538268 13538268 C - DEL HDAC11 ENST00000295757 human ensembl 74_37 +1 known frame_shift_del c.285 p.V98fs 1.000 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 73 0 0 60 16 21.0526 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 125 0 0 89 17 16.0377 DZIP1L 0 genome.wustl.edu 37 3 137783521 137783521 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 137783521 137783521 A - DEL DZIP1L ENST00000327532 human ensembl 74_37 -1 known frame_shift_del c.2091 p.F697fs 0.000 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 293 0 0 223 41 15.5303 ZBTB38 0 genome.wustl.edu 37 3 141161678 141161679 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 141161678 141161679 - A INS ZBTB38 ENST00000321464 human ensembl 74_37 +1 known frame_shift_ins c.451_452 p.R153fs 0.299:0.247 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB38 HGNC ENSG00000177311 74 0 0 58 6 9.375 XRN1 0 genome.wustl.edu 37 3 142054303 142054304 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 142054303 142054304 - T INS XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_ins c.3926_3925 p.M1309fs 0.128:0.129 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 191 0 0 141 17 10.7595 PLOD2 0 genome.wustl.edu 37 3 145788925 145788925 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 145788925 145788925 T - DEL PLOD2 ENST00000282903 human ensembl 74_37 -1 known frame_shift_del c.2025 p.K675fs 0.916 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 48 0 0 40 7 14.8936 PLOD2 0 genome.wustl.edu 37 3 145795653 145795653 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 145795653 145795653 G - DEL PLOD2 ENST00000282903 human ensembl 74_37 -1 known frame_shift_del c.1559 p.P520fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 244 0 0 180 14 7.21649 C3orf20 0 genome.wustl.edu 37 3 14802989 14802989 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 14802989 14802989 G - DEL C3orf20 ENST00000253697 human ensembl 74_37 +1 known frame_shift_del c.2362 p.K790fs 0.991 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 84 0 0 74 21 22.1053 GYG1 0 genome.wustl.edu 37 3 148727065 148727065 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 148727065 148727065 G - DEL GYG1 ENST00000345003 human ensembl 74_37 +1 known frame_shift_del c.484 p.D163fs 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 149 0 0 144 10 6.49351 CP 0 genome.wustl.edu 37 3 148939579 148939579 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 148939579 148939579 T - DEL CP ENST00000264613 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 0.993 NULL pfam_Cu-oxidase_2,pfam_Cu-oxidase_3,pfam_Cu-oxidase,superfamily_Cupredoxin - no_errors CP HGNC ENSG00000047457 67 0 0 53 6 10.1695 GPR171 0 genome.wustl.edu 37 3 150917110 150917110 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 150917110 150917110 A - DEL GPR171 ENST00000309180 human ensembl 74_37 -1 known frame_shift_del c.64 p.Y22fs 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR171 HGNC ENSG00000174946 107 0 0 72 15 17.2414 GPR87 0 genome.wustl.edu 37 3 151012163 151012163 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151012163 151012163 T - DEL GPR87 ENST00000260843 human ensembl 74_37 -1 known frame_shift_del c.871 p.I291fs 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 126 1 0.787402 86 8 8.51064 ZFYVE20 0 genome.wustl.edu 37 3 15132024 15132024 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 15132024 15132024 T - DEL ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known frame_shift_del c.171 p.A58fs 1.000 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 126 0 0 88 7 7.36842 AADAC 0 genome.wustl.edu 37 3 151545684 151545685 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 151545684 151545685 - A INS AADAC ENST00000232892 human ensembl 74_37 +1 known frame_shift_ins c.924_925 p.Y310fs 0.000:0.000 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pfam_CarbesteraseB,pirsf_Arylacetamide_deacetylase - no_errors AADAC HGNC ENSG00000114771 83 0 0 79 6 7.05882 DHX36 0 genome.wustl.edu 37 3 154032860 154032860 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 154032860 154032860 T - DEL DHX36 ENST00000496811 human ensembl 74_37 -1 known frame_shift_del c.578 p.N193fs 0.790 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 77 0 0 61 8 11.5942 TIPARP 0 genome.wustl.edu 37 3 156396296 156396297 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 156396296 156396297 - A INS TIPARP ENST00000295924 human ensembl 74_37 +1 known frame_shift_ins c.810_811 p.R271fs 1.000:1.000 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TIPARP HGNC ENSG00000163659 151 1 0.657895 134 10 6.94444 ANKRD28 0 genome.wustl.edu 37 3 15756165 15756166 + Splice_Site INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 15756165 15756166 - G INS ANKRD28 ENST00000383777 human ensembl 74_37 -1 known splice_site_ins c.1006-3_1006-2 e9-2 1.000:0.998 - - - no_errors ANKRD28 HGNC ENSG00000206560 45 0 0 31 11 26.1905 SMC4 0 genome.wustl.edu 37 3 160120548 160120549 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 160120548 160120549 - A INS SMC4 ENST00000344722 human ensembl 74_37 +1 known frame_shift_ins c.403_404 p.I137fs 1.000:1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 232 0 0 130 15 10.3448 ZNF639 0 genome.wustl.edu 37 3 179046097 179046097 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 179046097 179046097 A - DEL ZNF639 ENST00000326361 human ensembl 74_37 +1 known frame_shift_del c.16 p.R8fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF639 HGNC ENSG00000121864 67 0 0 38 6 13.6364 FXR1 0 genome.wustl.edu 37 3 180666228 180666228 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 180666228 180666228 A - DEL FXR1 ENST00000357559 human ensembl 74_37 +1 known frame_shift_del c.364 p.N124fs 1.000 NULL 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 91 0 0 71 17 19.3182 SOX2 0 genome.wustl.edu 37 3 181430901 181430901 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 181430901 181430901 C - DEL SOX2 ENST00000325404 human ensembl 74_37 +1 known frame_shift_del c.753 p.P253fs 1.000 NULL pfam_TF_SOX,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX2 HGNC ENSG00000181449 67 0 0 65 13 16.6667 ATP11B 0 genome.wustl.edu 37 3 182607279 182607280 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 182607279 182607280 - T INS ATP11B ENST00000323116 human ensembl 74_37 +1 known frame_shift_ins c.2925_2926 p.G977fs 1.000:1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11B HGNC ENSG00000058063 131 0 0 70 7 9.09091 DVL3 0 genome.wustl.edu 37 3 183882163 183882163 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 183882163 183882163 C - DEL DVL3 ENST00000313143 human ensembl 74_37 +1 known frame_shift_del c.340 p.P115fs 1.000 NULL pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 83 0 0 100 8 7.40741 FAM131A 0 genome.wustl.edu 37 3 184062513 184062513 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 184062513 184062513 C - DEL FAM131A ENST00000383847 human ensembl 74_37 +1 known frame_shift_del c.856 p.S288fs 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 105 0 0 118 10 7.8125 TMEM41A 0 genome.wustl.edu 37 3 185212518 185212518 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 185212518 185212518 A - DEL TMEM41A ENST00000421852 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 1.000 pfam_SNARE_assoc pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 163 0 0 138 9 6.12245 ETV5 0 genome.wustl.edu 37 3 185797835 185797835 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 185797835 185797835 G - DEL ETV5 ENST00000537818 human ensembl 74_37 -1 known frame_shift_del c.547 p.L183fs 0.984 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 58 0 0 45 7 13.4615 DGKG 0 genome.wustl.edu 37 3 186006613 186006613 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 186006613 186006613 G - DEL DGKG ENST00000265022 human ensembl 74_37 -1 known frame_shift_del c.430 p.L144fs 0.004 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 303 0 0 295 28 8.66873 HRASLS 0 genome.wustl.edu 37 3 192980889 192980889 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 192980889 192980889 C - DEL HRASLS ENST00000264735 human ensembl 74_37 +1 known frame_shift_del c.585 p.P197fs 0.184 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors HRASLS HGNC ENSG00000127252 150 1 0.662252 121 9 6.92308 NRROS 0 genome.wustl.edu 37 3 196387867 196387867 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196387867 196387867 C - DEL NRROS ENST00000328557 human ensembl 74_37 +1 known frame_shift_del c.1353 p.P453fs 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors NRROS HGNC ENSG00000174004 233 0 0 230 33 12.5475 PIGZ 0 genome.wustl.edu 37 3 196674301 196674301 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196674301 196674301 C - DEL PIGZ ENST00000412723 human ensembl 74_37 -1 known frame_shift_del c.1467 p.T490fs 0.922 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 82 0 0 84 5 5.61798 DLG1 0 genome.wustl.edu 37 3 196876654 196876654 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 196876654 196876654 G - DEL DLG1 ENST00000346964 human ensembl 74_37 -1 known frame_shift_del c.596 p.P199fs 1.000 pfam_MAGUK_PEST_N,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 248 0 0 191 19 9.04762 GLB1 0 genome.wustl.edu 37 3 33038592 33038593 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 33038592 33038593 - T INS GLB1 ENST00000445488 human ensembl 74_37 -1 known frame_shift_ins c.2123_2122 p.R708fs 0.072:0.062 superfamily_Galactose-bd-like pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 138 0 0 129 10 7.19424 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 311 0 0 169 12 6.62983 TRANK1 0 genome.wustl.edu 37 3 36897426 36897427 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 36897426 36897427 - A INS TRANK1 ENST00000429976 human ensembl 74_37 -1 known frame_shift_ins c.3655_3654 p.L1218fs 0.998:0.993 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 162 0 0 160 11 6.43275 SCN10A 0 genome.wustl.edu 37 3 38738885 38738886 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38738885 38738886 - T INS SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_ins c.5826_5825 p.N1942fs 0.043:0.052 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 122 0 0 114 11 8.8 SCN10A 0 genome.wustl.edu 37 3 38798323 38798324 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 38798323 38798324 - A INS SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_ins c.1132_1131 p.V377fs 0.995:0.758 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 155 0 0 139 11 7.33333 TTC21A 0 genome.wustl.edu 37 3 39162487 39162488 + Frame_Shift_Del DEL GT GT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 39162487 39162488 GT - DEL TTC21A ENST00000301819 human ensembl 74_37 +1 known frame_shift_del c.926_925 p.C310fs 1.000:1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 88 0 0 80 18 18.3673 CTNNB1 0 genome.wustl.edu 37 3 41266654 41266654 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 41266654 41266654 C - DEL CTNNB1 ENST00000349496 human ensembl 74_37 +1 known frame_shift_del c.451 p.R151fs 1.000 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 77 0 0 49 12 19.6721 ANO10 0 genome.wustl.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 43647213 43647213 T - DEL ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_del c.132 p.D45fs 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 61 0 0 56 12 17.6471 ZNF445 0 genome.wustl.edu 37 3 44492863 44492863 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 44492863 44492863 C - DEL ZNF445 ENST00000396077 human ensembl 74_37 -1 known frame_shift_del c.541 p.D181fs 0.027 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 152 0 0 151 12 7.36196 EXOSC7 0 genome.wustl.edu 37 3 45049052 45049053 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 45049052 45049053 - T INS EXOSC7 ENST00000265564 human ensembl 74_37 +1 known frame_shift_ins c.756_757 p.E253fs 1.000:1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2 pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 43 0 0 37 5 11.9048 CSPG5 0 genome.wustl.edu 37 3 47618517 47618517 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 47618517 47618517 G - DEL CSPG5 ENST00000383738 human ensembl 74_37 -1 known frame_shift_del c.999 p.G334fs 0.833 NULL pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt - no_errors CSPG5 HGNC ENSG00000114646 55 0 0 54 10 15.625 RBM6 0 genome.wustl.edu 37 3 50005144 50005145 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50005144 50005145 - G INS RBM6 ENST00000266022 human ensembl 74_37 +1 known frame_shift_ins c.286_287 p.D99fs 1.000:1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 157 0 0 134 17 11.2583 IFRD2 0 genome.wustl.edu 37 3 50330205 50330205 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 50330205 50330205 G - DEL IFRD2 ENST00000336089 human ensembl 74_37 -1 known frame_shift_del c.100 p.Q34fs 0.023 NULL pfam_Interferon-rel_develop_reg_N,pfam_Interferon-rel_develop_reg_C,superfamily_ARM-type_fold - no_errors IFRD2 HGNC ENSG00000214706 82 0 0 104 7 6.30631 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 49 0 0 24 24 50 RBM15B 0 genome.wustl.edu 37 3 51431353 51431353 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 51431353 51431353 G - DEL RBM15B ENST00000323686 human ensembl 74_37 +1 known frame_shift_del c.2523 p.S844fs 1.000 pfam_SPOC_C,superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 61 0 0 65 9 12.1622 CACNA1D 0 genome.wustl.edu 37 3 53766931 53766932 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 53766931 53766932 - A INS CACNA1D ENST00000288139 human ensembl 74_37 +1 known frame_shift_ins c.2623_2624 p.I877fs 1.000:1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 103 0 0 81 7 7.95455 ZNF654 0 genome.wustl.edu 37 3 88188521 88188521 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 88188521 88188521 A - DEL ZNF654 ENST00000309495 human ensembl 74_37 +1 known frame_shift_del c.61 p.G23fs 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF654 HGNC ENSG00000175105 63 0 0 47 14 22.9508 EPHA3 0 genome.wustl.edu 37 3 89499363 89499363 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 89499363 89499363 C - DEL EPHA3 ENST00000336596 human ensembl 74_37 +1 known frame_shift_del c.2533 p.M847fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 50 0 0 80 8 9.09091 COL8A1 0 genome.wustl.edu 37 3 99514755 99514755 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 99514755 99514755 G - DEL COL8A1 ENST00000261037 human ensembl 74_37 +1 known frame_shift_del c.2010 p.G672fs 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 91 0 0 94 15 13.7615 IL17RE 0 genome.wustl.edu 37 3 9953257 9953258 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 3 9953257 9953258 - C INS IL17RE ENST00000421412 human ensembl 74_37 +1 known frame_shift_ins c.1302_1303 p.V436fs 0.018:0.020 NULL pfam_SEFIR - no_errors IL17RE HGNC ENSG00000163701 134 1 0.740741 163 10 5.78035 SLC39A8 0 genome.wustl.edu 37 4 103189225 103189225 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 103189225 103189225 T - DEL SLC39A8 ENST00000356736 human ensembl 74_37 -1 known frame_shift_del c.852 p.E285fs 0.000 pfam_ZIP pfam_ZIP - no_errors SLC39A8 HGNC ENSG00000138821 163 0 0 159 11 6.47059 INTS12 0 genome.wustl.edu 37 4 106613138 106613138 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 106613138 106613138 T - DEL INTS12 ENST00000340139 human ensembl 74_37 -1 known frame_shift_del c.652 p.R218fs 0.999 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors INTS12 HGNC ENSG00000138785 27 0 0 19 6 24 C4orf21 0 genome.wustl.edu 37 4 113538885 113538886 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 113538885 113538886 - T INS C4orf21 ENST00000505019 human ensembl 74_37 -1 known frame_shift_ins c.2313_2312 p.H772fs 0.002:0.003 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 110 0 0 90 10 10 QRFPR 0 genome.wustl.edu 37 4 122250740 122250740 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 122250740 122250740 T - DEL QRFPR ENST00000394427 human ensembl 74_37 -1 known frame_shift_del c.1025 p.N342fs 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_NPY_rcpt,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 101 0 0 77 11 12.5 EXOSC9 0 genome.wustl.edu 37 4 122723894 122723894 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 122723894 122723894 T - DEL EXOSC9 ENST00000379663 human ensembl 74_37 +1 known frame_shift_del c.227 p.F78fs 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 134 0 0 81 20 19.802 KIAA1109 0 genome.wustl.edu 37 4 123145659 123145659 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 123145659 123145659 C - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.2620 p.P875fs 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 41 0 0 36 12 25 SCLT1 0 genome.wustl.edu 37 4 129869675 129869675 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 129869675 129869675 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.1269 p.A424fs 1.000 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 97 0 0 58 9 13.4328 SCLT1 0 genome.wustl.edu 37 4 129924995 129924995 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 129924995 129924995 T - DEL SCLT1 ENST00000281142 human ensembl 74_37 -1 known frame_shift_del c.327 p.K109fs 0.840 NULL NULL - no_errors SCLT1 HGNC ENSG00000151466 128 1 0.775194 86 9 9.47368 PCDH10 0 genome.wustl.edu 37 4 134071648 134071649 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 134071648 134071649 - C INS PCDH10 ENST00000264360 human ensembl 74_37 +1 known frame_shift_ins c.353_354 p.S121fs 1.000:1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 70 0 0 44 13 22.807 CLGN 0 genome.wustl.edu 37 4 141313502 141313502 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 141313502 141313502 T - DEL CLGN ENST00000325617 human ensembl 74_37 -1 known frame_shift_del c.1522 p.T508fs 0.000 NULL pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 155 0 0 99 25 20.1613 SMAD1 0 genome.wustl.edu 37 4 146475083 146475083 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 146475083 146475083 T - DEL SMAD1 ENST00000302085 human ensembl 74_37 +1 known frame_shift_del c.1145 p.F383fs 1.000 pfam_SMAD_dom_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 135 0 0 78 19 19.5876 TRIM2 0 genome.wustl.edu 37 4 154191516 154191516 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 154191516 154191516 C - DEL TRIM2 ENST00000338700 human ensembl 74_37 +1 known frame_shift_del c.60 p.P22fs 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 123 0 0 133 8 5.67376 FGFBP2 0 genome.wustl.edu 37 4 15964183 15964183 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 15964183 15964183 G - DEL FGFBP2 ENST00000259989 human ensembl 74_37 -1 known frame_shift_del c.570 p.R191fs 0.009 pfam_FGF1-bd pfam_FGF1-bd - no_errors FGFBP2 HGNC ENSG00000137441 173 0 0 180 11 5.75916 DDX60 0 genome.wustl.edu 37 4 169182015 169182016 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 169182015 169182016 - A INS DDX60 ENST00000393743 human ensembl 74_37 -1 known frame_shift_ins c.3399_3398 p.L1133fs 1.000:0.961 superfamily_P-loop_NTPase pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 100 0 0 89 6 6.31579 FGFR3 0 genome.wustl.edu 37 4 1806180 1806181 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 1806180 1806181 - C INS FGFR3 ENST00000340107 human ensembl 74_37 +1 known frame_shift_ins c.1205_1206 p.K405fs 0.996:0.987 pirsf_FGF_rcpt_fam pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 231 0 0 235 44 15.7706 POLN 0 genome.wustl.edu 37 4 2194956 2194956 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 2194956 2194956 A - DEL POLN ENST00000382865 human ensembl 74_37 -1 known frame_shift_del c.996 p.F332fs 0.343 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC ENSG00000130997 90 0 0 45 7 13.4615 HAUS3 0 genome.wustl.edu 37 4 2242244 2242246 + In_Frame_Del DEL CTT CTT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 2242244 2242246 CTT - DEL HAUS3 ENST00000243706 human ensembl 74_37 -1 known in_frame_del c.430_428 p.E143in_frame_del 0.023:0.001:0.000 NULL NULL - no_errors HAUS3 HGNC ENSG00000214367 153 0 0 97 17 14.9123 FAM193A 0 genome.wustl.edu 37 4 2661593 2661593 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 2661593 2661593 C - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.684 p.V231fs 0.995 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 122 0 0 141 11 7.23684 TBC1D19 0 genome.wustl.edu 37 4 26638843 26638843 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 26638843 26638843 A - DEL TBC1D19 ENST00000264866 human ensembl 74_37 +1 known frame_shift_del c.305 p.R104fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D19 HGNC ENSG00000109680 124 0 0 64 11 14.6667 TLR6 0 genome.wustl.edu 37 4 38829466 38829467 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 38829466 38829467 - T INS TLR6 ENST00000381950 human ensembl 74_37 -1 known frame_shift_ins c.1629_1628 p.N543fs 0.000:0.000 pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR6 HGNC ENSG00000174130 357 0 0 307 29 8.63095 RBM47 0 genome.wustl.edu 37 4 40434705 40434713 + In_Frame_Del DEL GCGGCTGCG GCGGCTGCG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GCGGCTGCG GCGGCTGCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 40434705 40434713 GCGGCTGCG - DEL RBM47 ENST00000295971 human ensembl 74_37 -1 known in_frame_del c.1505_1497 p.AAA500in_frame_del 0.745:0.762:0.680:0.800:0.820:0.779:0.989:0.994:0.985 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 72 0 0 50 10 16.6667 GNPDA2 0 genome.wustl.edu 37 4 44719209 44719210 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 44719209 44719210 - T INS GNPDA2 ENST00000295448 human ensembl 74_37 -1 known frame_shift_ins c.330_329 p.N110fs 1.000:1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 123 0 0 67 16 19.2771 GABRB1 0 genome.wustl.edu 37 4 47427976 47427976 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 47427976 47427976 T - DEL GABRB1 ENST00000295454 human ensembl 74_37 +1 known frame_shift_del c.1366 p.F457fs 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 151 0 0 124 14 10.1449 EVC 0 genome.wustl.edu 37 4 5785362 5785362 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 5785362 5785362 C - DEL EVC ENST00000264956 human ensembl 74_37 +1 known frame_shift_del c.1647 p.P551fs 0.460 NULL NULL - no_errors EVC HGNC ENSG00000072840 109 0 0 90 13 12.6214 CENPC 0 genome.wustl.edu 37 4 68385053 68385053 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68385053 68385053 T - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.499 p.T167fs 0.003 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 172 0 0 143 8 5.29801 GNRHR 0 genome.wustl.edu 37 4 68610421 68610421 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68610421 68610421 A - DEL GNRHR ENST00000226413 human ensembl 74_37 -1 known frame_shift_del c.607 p.S203fs 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors GNRHR HGNC ENSG00000109163 147 0 0 118 8 6.34921 GNRHR 0 genome.wustl.edu 37 4 68619880 68619880 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 68619880 68619880 C - DEL GNRHR ENST00000226413 human ensembl 74_37 -1 known frame_shift_del c.174 p.K59fs 0.908 pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GphnRH_fam_rcpt,prints_GPCR_Rhodpsn,prints_Vasoprsn_rcpt - no_errors GNRHR HGNC ENSG00000109163 140 0 0 96 8 7.69231 YTHDC1 0 genome.wustl.edu 37 4 69185860 69185861 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 69185860 69185861 - G INS YTHDC1 ENST00000344157 human ensembl 74_37 -1 known frame_shift_ins c.1665_1664 p.E556fs 1.000:1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC ENSG00000083896 88 0 0 67 11 14.1026 MOB1B 0 genome.wustl.edu 37 4 71844995 71844995 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 71844995 71844995 T - DEL MOB1B ENST00000309395 human ensembl 74_37 +1 known frame_shift_del c.560 p.F189fs 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 150 0 0 122 8 6.15385 HNRNPDL 0 genome.wustl.edu 37 4 83348623 83348623 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 83348623 83348623 A - DEL HNRNPDL ENST00000295470 human ensembl 74_37 -1 known frame_shift_del c.869 p.L290fs 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPDL HGNC ENSG00000152795 85 0 0 63 14 18.1818 HPSE 0 genome.wustl.edu 37 4 84240519 84240520 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 84240519 84240520 - T INS HPSE ENST00000311412 human ensembl 74_37 -1 known frame_shift_ins c.477_476 p.F160fs 0.998:0.976 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 186 0 0 157 13 7.64706 PTPN13 0 genome.wustl.edu 37 4 87690974 87690974 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 4 87690974 87690974 T - DEL PTPN13 ENST00000436978 human ensembl 74_37 +1 known frame_shift_del c.4557 p.S1521fs 1.000 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 104 0 0 59 14 19.1781 SLC12A7 0 genome.wustl.edu 37 5 1074698 1074698 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 1074698 1074698 G - DEL SLC12A7 ENST00000264930 human ensembl 74_37 -1 known frame_shift_del c.2056 p.H686fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 73 0 0 62 7 10.1449 WDR36 0 genome.wustl.edu 37 5 110428317 110428320 + Splice_Site DEL GTGA GTGA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 110428317 110428320 GTGA - DEL WDR36 ENST00000506538 human ensembl 74_37 +1 known splice_site_del c.330+1_330+1 e1+1 1.000:1.000:1.000:1.000 - - - no_errors WDR36 HGNC ENSG00000134987 53 0 0 35 9 20.4545 KCNN2 0 genome.wustl.edu 37 5 113822749 113822749 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 113822749 113822749 A - DEL KCNN2 ENST00000264773 human ensembl 74_37 +1 known frame_shift_del c.1257 p.N421fs 1.000 pfam_CaM-bd_dom,superfamily_CaM-bd_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC ENSG00000080709 89 0 0 62 9 12.6761 ATG12 0 genome.wustl.edu 37 5 115177087 115177087 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 115177087 115177087 T - DEL ATG12 ENST00000274459 human ensembl 74_37 -1 known frame_shift_del c.304 p.I102fs 1.000 pfam_Atg12 pfam_Atg12,pfam_Atg8_fam - no_errors ATG12 HGNC ENSG00000145782 55 0 0 48 12 20 MEGF10 0 genome.wustl.edu 37 5 126792986 126792988 + In_Frame_Del DEL CAA CAA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CAA CAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 126792986 126792988 CAA - DEL MEGF10 ENST00000274473 human ensembl 74_37 +1 known in_frame_del c.3399_3401 p.N1134in_frame_del 0.167:0.158:0.157 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Proteinase_amylase_inhib_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF10 HGNC ENSG00000145794 76 0 0 51 12 19.0476 SHROOM1 0 genome.wustl.edu 37 5 132159772 132159773 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 132159772 132159773 - C INS SHROOM1 ENST00000378679 human ensembl 74_37 -1 known frame_shift_ins c.1581_1580 p.T528fs 0.002:0.007 NULL pfam_ASD2,pfam_ASD1 - no_errors SHROOM1 HGNC ENSG00000164403 41 0 0 29 11 27.5 DNAH5 0 genome.wustl.edu 37 5 13701426 13701426 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 13701426 13701426 A - DEL DNAH5 ENST00000265104 human ensembl 74_37 -1 known frame_shift_del c.13458 p.F4486fs 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 140 0 0 96 11 10.2804 KDM3B 0 genome.wustl.edu 37 5 137721747 137721749 + In_Frame_Del DEL AAG AAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137721747 137721749 AAG - DEL KDM3B ENST00000314358 human ensembl 74_37 +1 known in_frame_del c.817_819 p.K275in_frame_del 1.000:1.000:1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 188 0 0 156 23 12.8492 EGR1 0 genome.wustl.edu 37 5 137803132 137803132 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 137803132 137803132 C - DEL EGR1 ENST00000239938 human ensembl 74_37 +1 known frame_shift_del c.994 p.H334fs 1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 108 0 0 108 13 10.7438 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 31 0 0 25 6 19.3548 PCDHA4 0 genome.wustl.edu 37 5 140187395 140187395 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140187395 140187395 T - DEL PCDHA4 ENST00000530339 human ensembl 74_37 +1 known frame_shift_del c.623 p.L210fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 142 0 0 83 25 23.1481 PCDHA4 0 genome.wustl.edu 37 5 140188622 140188623 + Frame_Shift_Del DEL GC GC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GC GC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140188622 140188623 GC - DEL PCDHA4 ENST00000530339 human ensembl 74_37 +1 known frame_shift_del c.1850_1851 p.R619fs 0.000:0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 77 0 0 79 10 11.236 PCDHA13 0 genome.wustl.edu 37 5 140263181 140263182 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140263181 140263182 - G INS PCDHA13 ENST00000289272 human ensembl 74_37 +1 known frame_shift_ins c.1328_1329 p.V445fs 0.998:0.954 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 125 0 0 135 12 8.16327 PCDHB3 0 genome.wustl.edu 37 5 140480418 140480418 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140480418 140480418 G - DEL PCDHB3 ENST00000231130 human ensembl 74_37 +1 known frame_shift_del c.185 p.A64fs 0.071 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 131 0 0 113 7 5.83333 PCDHB7 0 genome.wustl.edu 37 5 140554145 140554145 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 140554145 140554145 C - DEL PCDHB7 ENST00000231137 human ensembl 74_37 +1 known frame_shift_del c.1729 p.R578fs 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 108 0 0 106 9 7.82609 PCDH1 0 genome.wustl.edu 37 5 141243331 141243332 + Frame_Shift_Del DEL AA AA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 141243331 141243332 AA - DEL PCDH1 ENST00000287008 human ensembl 74_37 -1 known frame_shift_del c.2565_2564 p.F855fs 0.981:1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH1 HGNC ENSG00000156453 330 0 0 262 32 10.8844 KIAA0141 0 genome.wustl.edu 37 5 141309634 141309635 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 141309634 141309635 - A INS KIAA0141 ENST00000194118 human ensembl 74_37 +1 known frame_shift_ins c.652_653 p.E220fs 0.032:0.081 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 53 0 0 67 8 10.6667 GLRA1 0 genome.wustl.edu 37 5 151239422 151239422 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 151239422 151239422 C - DEL GLRA1 ENST00000455880 human ensembl 74_37 -1 known frame_shift_del c.400 p.A134fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC ENSG00000145888 100 0 0 98 6 5.76923 GABRG2 0 genome.wustl.edu 37 5 161524661 161524662 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 161524661 161524662 - T INS GABRG2 ENST00000356592 human ensembl 74_37 +1 known frame_shift_ins c.345_346 p.A117fs 0.997:1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 138 0 0 86 8 8.51064 GABRG2 0 genome.wustl.edu 37 5 161580217 161580218 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 161580217 161580218 - T INS GABRG2 ENST00000356592 human ensembl 74_37 +1 known frame_shift_ins c.1271_1272 p.C427fs 1.000:0.994 superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 153 1 0.649351 131 11 7.74648 PLEKHG4B 0 genome.wustl.edu 37 5 163580 163580 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 163580 163580 C - DEL PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known frame_shift_del c.2325 p.P777fs 0.999 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 30 0 0 37 9 19.5652 MYO10 0 genome.wustl.edu 37 5 16694606 16694606 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 16694606 16694606 C - DEL MYO10 ENST00000513610 human ensembl 74_37 -1 known frame_shift_del c.3674 p.G1225fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 120 0 0 103 12 10.4348 WWC1 0 genome.wustl.edu 37 5 167896000 167896001 + Frame_Shift_Del DEL CT CT - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 167896000 167896001 CT - DEL WWC1 ENST00000265293 human ensembl 74_37 +1 known frame_shift_del c.3320_3321 p.S1109fs 0.916:0.912 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 122 0 0 112 10 8.19672 GRM6 0 genome.wustl.edu 37 5 178418554 178418555 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 178418554 178418555 - C INS GRM6 ENST00000231188 human ensembl 74_37 -1 known frame_shift_ins c.728_727 p.V243fs 1.000:0.986 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 133 0 0 138 23 14.2857 CANX 0 genome.wustl.edu 37 5 179149920 179149920 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 179149920 179149920 T - DEL CANX ENST00000415618 human ensembl 74_37 +1 known frame_shift_del c.1403 p.F470fs 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 142 0 0 114 11 8.8 ADAMTS12 0 genome.wustl.edu 37 5 33881513 33881513 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 33881513 33881513 A - DEL ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known frame_shift_del c.200 p.L67fs 0.721 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 208 0 0 145 29 16.6667 IL7R 0 genome.wustl.edu 37 5 35874636 35874637 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 35874636 35874637 - A INS IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_ins c.792_793 p.R266fs 1.000:0.967 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 105 0 0 95 12 11.215 FYB 0 genome.wustl.edu 37 5 39202091 39202091 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 39202091 39202091 C - DEL FYB ENST00000540520 human ensembl 74_37 -1 known frame_shift_del c.1002 p.P335fs 0.001 NULL pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 110 0 0 88 20 18.5185 PRKAA1 0 genome.wustl.edu 37 5 40769572 40769572 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 40769572 40769572 A - DEL PRKAA1 ENST00000354209 human ensembl 74_37 -1 known frame_shift_del c.587 p.L196fs 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,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA1 HGNC ENSG00000132356 264 0 0 173 38 18.0095 MED10 0 genome.wustl.edu 37 5 6372636 6372636 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 6372636 6372636 C - DEL MED10 ENST00000255764 human ensembl 74_37 -1 known frame_shift_del c.388 p.E130fs 1.000 NULL pfam_Mediator_Med10 - no_errors MED10 HGNC ENSG00000133398 110 0 0 84 14 14.2857 SREK1IP1 0 genome.wustl.edu 37 5 64023941 64023941 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 64023941 64023941 T - DEL SREK1IP1 ENST00000513458 human ensembl 74_37 -1 known frame_shift_del c.271 p.R91fs 1.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors SREK1IP1 HGNC ENSG00000153006 18 0 0 7 6 46.1538 GCNT4 0 genome.wustl.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 74324982 74324983 - G INS GCNT4 ENST00000322348 human ensembl 74_37 -1 known frame_shift_ins c.881_880 p.H294fs 0.920:0.913 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT4 HGNC ENSG00000176928 112 0 0 90 8 8.16327 HMGCR 0 genome.wustl.edu 37 5 74646145 74646147 + In_Frame_Del DEL AGA AGA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 74646145 74646147 AGA - DEL HMGCR ENST00000287936 human ensembl 74_37 +1 known in_frame_del c.726_728 p.E246in_frame_del 1.000:1.000:1.000 pfam_Patched,tigrfam_HMG_CoA_Rdtase_metazoan pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 74 0 0 48 10 17.2414 WDR41 0 genome.wustl.edu 37 5 76729042 76729042 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 76729042 76729042 T - DEL WDR41 ENST00000296679 human ensembl 74_37 -1 known frame_shift_del c.1298 p.N433fs 1.000 NULL 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 WDR41 HGNC ENSG00000164253 104 0 0 90 16 15.0943 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 95 0 0 78 6 7.14286 FASTKD3 0 genome.wustl.edu 37 5 7867769 7867769 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 7867769 7867769 T - DEL FASTKD3 ENST00000264669 human ensembl 74_37 -1 known frame_shift_del c.428 p.K143fs 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 117 0 0 74 16 17.7778 CMYA5 0 genome.wustl.edu 37 5 79030050 79030050 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 79030050 79030050 A - DEL CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_del c.5462 p.K1823fs 0.031 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 109 0 0 110 6 5.17241 VCAN 0 genome.wustl.edu 37 5 82832989 82832990 + In_Frame_Ins INS - - GAA TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 82832989 82832990 - GAA INS VCAN ENST00000265077 human ensembl 74_37 +1 known in_frame_ins c.4167_4168 p.1393in_frame_insE 0.854:0.995 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 61 0 0 48 7 12.7273 BRD9 0 genome.wustl.edu 37 5 889777 889777 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 889777 889777 A - DEL BRD9 ENST00000323510 human ensembl 74_37 -1 known frame_shift_del c.38 p.F13fs 0.002 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 55 0 0 43 10 18.8679 FAM81B 0 genome.wustl.edu 37 5 94782312 94782312 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94782312 94782312 A - DEL FAM81B ENST00000283357 human ensembl 74_37 +1 known frame_shift_del c.940 p.K315fs 0.856 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 55 0 0 37 8 17.7778 TTC37 0 genome.wustl.edu 37 5 94878927 94878927 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 5 94878927 94878927 T - DEL TTC37 ENST00000358746 human ensembl 74_37 -1 known frame_shift_del c.195 p.A66fs 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 156 0 0 116 29 20 MCHR2 0 genome.wustl.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 100382358 100382358 A - DEL MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_del c.623 p.F208fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 176 0 0 85 23 21.2963 MCHR2 0 genome.wustl.edu 37 6 100395720 100395721 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 100395720 100395721 - C INS MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_ins c.310_309 p.P103fs 0.986:0.948 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_MCH_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 194 0 0 148 13 8.07453 PRDM1 0 genome.wustl.edu 37 6 106552769 106552770 + Frame_Shift_Del DEL AG AG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 106552769 106552770 AG - DEL PRDM1 ENST00000369096 human ensembl 74_37 +1 known frame_shift_del c.734_735 p.E247fs 1.000:1.000 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 324 0 0 321 47 12.7717 QRSL1 0 genome.wustl.edu 37 6 107090936 107090936 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 107090936 107090936 A - DEL QRSL1 ENST00000369046 human ensembl 74_37 +1 known frame_shift_del c.351 p.T119fs 1.000 pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA - no_errors QRSL1 HGNC ENSG00000130348 73 0 0 58 8 12.1212 NR2E1 0 genome.wustl.edu 37 6 108508599 108508599 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 108508599 108508599 A - DEL NR2E1 ENST00000368986 human ensembl 74_37 +1 known frame_shift_del c.1090 p.T366fs 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR2E1 HGNC ENSG00000112333 240 0 0 189 13 6.43564 SYCP2L 0 genome.wustl.edu 37 6 10903157 10903158 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 10903157 10903158 - A INS SYCP2L ENST00000283141 human ensembl 74_37 +1 known frame_shift_ins c.602_603 p.F204fs 0.228:0.010 NULL NULL - no_errors SYCP2L HGNC ENSG00000153157 85 0 0 73 5 6.41026 PPIL6 0 genome.wustl.edu 37 6 109740430 109740430 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 109740430 109740430 T - DEL PPIL6 ENST00000521072 human ensembl 74_37 -1 known frame_shift_del c.648 p.G217fs 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC ENSG00000185250 253 0 0 148 36 19.5652 PPIL6 0 genome.wustl.edu 37 6 109757309 109757309 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 109757309 109757309 T - DEL PPIL6 ENST00000521072 human ensembl 74_37 -1 known frame_shift_del c.229 p.R77fs 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC ENSG00000185250 193 0 0 122 25 17.0068 SLC16A10 0 genome.wustl.edu 37 6 111498763 111498763 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111498763 111498763 A - DEL SLC16A10 ENST00000368851 human ensembl 74_37 +1 known frame_shift_del c.837 p.I282fs 0.651 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 118 0 0 90 12 11.7647 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 65 0 0 45 9 16.6667 NT5DC1 0 genome.wustl.edu 37 6 116542291 116542291 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 116542291 116542291 A - DEL NT5DC1 ENST00000319550 human ensembl 74_37 +1 known frame_shift_del c.604 p.K203fs 0.992 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom - no_errors NT5DC1 HGNC ENSG00000178425 145 0 0 82 15 15.4639 ZUFSP 0 genome.wustl.edu 37 6 116967058 116967058 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 116967058 116967058 T - DEL ZUFSP ENST00000368576 human ensembl 74_37 -1 known frame_shift_del c.1508 p.N503fs 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ENSG00000153975 137 0 0 82 24 22.6415 TRDN 0 genome.wustl.edu 37 6 123759209 123759209 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 123759209 123759209 T - DEL TRDN ENST00000398178 human ensembl 74_37 -1 known frame_shift_del c.1050 p.E351fs 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 41 0 0 24 6 20 THEMIS 0 genome.wustl.edu 37 6 128135078 128135079 + Splice_Site INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 128135078 128135079 - A INS THEMIS ENST00000543064 human ensembl 74_37 -1 known splice_site_ins c.710-3_710-2 e4-2 0.984:0.974 - - - no_errors THEMIS HGNC ENSG00000172673 103 0 0 56 17 23.2877 CTGF 0 genome.wustl.edu 37 6 132270568 132270568 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 132270568 132270568 G - DEL CTGF ENST00000367976 human ensembl 74_37 -1 known frame_shift_del c.886 p.H296fs 0.997 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,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 CTGF HGNC ENSG00000118523 216 0 0 223 17 7.08333 VNN3 0 genome.wustl.edu 37 6 133050028 133050028 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 133050028 133050028 T - DEL VNN3 ENST00000207771 human ensembl 74_37 -1 known frame_shift_del c.389 p.K130fs 0.998 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC ENSG00000093134 144 0 0 113 11 8.87097 ECT2L 0 genome.wustl.edu 37 6 139135710 139135710 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 139135710 139135710 T - DEL ECT2L ENST00000367682 human ensembl 74_37 +1 known frame_shift_del c.149 p.L52fs 0.260 NULL pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain - no_errors ECT2L HGNC ENSG00000203734 61 0 0 29 7 19.4444 REPS1 0 genome.wustl.edu 37 6 139266690 139266690 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 139266690 139266690 T - DEL REPS1 ENST00000450536 human ensembl 74_37 -1 known frame_shift_del c.422 p.K141fs 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 234 0 0 183 22 10.7317 HECA 0 genome.wustl.edu 37 6 139488146 139488147 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 139488146 139488147 - G INS HECA ENST00000367658 human ensembl 74_37 +1 known frame_shift_ins c.997_998 p.H336fs 1.000:1.000 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 82 0 0 91 9 9 PHACTR2 0 genome.wustl.edu 37 6 144081696 144081696 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 144081696 144081696 A - DEL PHACTR2 ENST00000440869 human ensembl 74_37 +1 known frame_shift_del c.613 p.N207fs 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR2 HGNC ENSG00000112419 61 0 0 41 11 21.1538 SASH1 0 genome.wustl.edu 37 6 148848703 148848703 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 148848703 148848703 A - DEL SASH1 ENST00000367467 human ensembl 74_37 +1 known frame_shift_del c.1399 p.K468fs 1.000 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 102 0 0 65 18 21.6867 PLEKHG1 0 genome.wustl.edu 37 6 151161071 151161071 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 151161071 151161071 C - DEL PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known frame_shift_del c.3197 p.L1067fs 0.014 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 76 0 0 61 18 22.7848 SYNE1 0 genome.wustl.edu 37 6 152539540 152539540 + Splice_Site DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 152539540 152539540 T - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known splice_site_del c.22045-2 e119-2 0.988 - - - no_errors SYNE1 HGNC ENSG00000131018 308 0 0 202 31 13.3047 JARID2 0 genome.wustl.edu 37 6 15496636 15496636 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 15496636 15496636 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1180 p.A396fs 1.000 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 101 0 0 79 9 10.2273 MAP3K4 0 genome.wustl.edu 37 6 161455391 161455391 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 161455391 161455391 C - DEL MAP3K4 ENST00000392142 human ensembl 74_37 +1 known frame_shift_del c.253 p.S87fs 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 MAP3K4 HGNC ENSG00000085511 72 0 0 38 9 19.1489 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 94 0 0 55 11 16.6667 NUP153 0 genome.wustl.edu 37 6 17624850 17624851 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 17624850 17624851 - G INS NUP153 ENST00000537253 human ensembl 74_37 -1 known frame_shift_ins c.4209_4208 p.V1404fs 0.999:1.000 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 139 0 0 124 16 11.4286 KIAA0319 0 genome.wustl.edu 37 6 24551725 24551725 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 24551725 24551725 T - DEL KIAA0319 ENST00000378214 human ensembl 74_37 -1 known frame_shift_del c.2977 p.T993fs 1.000 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 72 0 0 61 10 14.0845 TDP2 0 genome.wustl.edu 37 6 24651081 24651082 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 24651081 24651082 - T INS TDP2 ENST00000545995 human ensembl 74_37 -1 known frame_shift_ins c.1114_1113 p.L371fs 1.000:1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,superfamily_UBA-like - no_errors TDP2 HGNC ENSG00000111802 84 0 0 60 7 10.4478 SLC17A2 0 genome.wustl.edu 37 6 25921520 25921520 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 25921520 25921520 T - DEL SLC17A2 ENST00000377850 human ensembl 74_37 -1 known frame_shift_del c.361 p.M121fs 0.558 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 102 0 0 91 8 8.08081 HIST1H1C 0 genome.wustl.edu 37 6 26056572 26056573 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26056572 26056573 - A INS HIST1H1C ENST00000343677 human ensembl 74_37 -1 known frame_shift_ins c.85_84 p.G28fs 0.004:0.000 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 85 0 0 77 7 8.33333 HIST1H1D 0 genome.wustl.edu 37 6 26234700 26234701 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 26234700 26234701 - T INS HIST1H1D ENST00000244534 human ensembl 74_37 -1 known frame_shift_ins c.462_461 p.T155fs 1.000:1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1D HGNC ENSG00000124575 156 0 0 130 12 8.4507 ZNF165 0 genome.wustl.edu 37 6 28056383 28056383 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 28056383 28056383 T - DEL ZNF165 ENST00000377325 human ensembl 74_37 +1 known frame_shift_del c.593 p.F199fs 0.135 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 ZNF165 HGNC ENSG00000197279 190 0 0 135 9 6.25 NKAPL 0 genome.wustl.edu 37 6 28227519 28227520 + Frame_Shift_Del DEL GA GA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 28227519 28227520 GA - DEL NKAPL ENST00000343684 human ensembl 74_37 +1 known frame_shift_del c.370_371 p.R127fs 0.996:1.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 149 0 0 123 25 16.8919 DHX16 0 genome.wustl.edu 37 6 30621048 30621048 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 30621048 30621048 T - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.3097 p.I1033fs 0.987 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 137 0 0 77 26 25.2427 C6orf25 0 genome.wustl.edu 37 6 31692600 31692601 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31692600 31692601 - G INS C6orf25 ENST00000375806 human ensembl 74_37 +1 known frame_shift_ins c.600_601 p.D201fs 0.001:0.005 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 55 0 0 65 9 12.1622 DDAH2 0 genome.wustl.edu 37 6 31696001 31696002 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31696001 31696002 - C INS DDAH2 ENST00000375787 human ensembl 74_37 -1 known frame_shift_ins c.540_539 p.P181fs 0.990:1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 46 0 0 64 6 8.57143 CLIC1 0 genome.wustl.edu 37 6 31701702 31701702 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 31701702 31701702 C - DEL CLIC1 ENST00000375779 human ensembl 74_37 -1 known frame_shift_del c.186 p.Q63fs 0.999 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC1 HGNC ENSG00000213719 129 0 0 143 30 17.341 TNXB 0 genome.wustl.edu 37 6 32023893 32023894 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32023893 32023894 - G INS TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_ins c.8202_8201 p.E2735fs 0.292:0.720 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 71 0 0 78 7 8.23529 NOTCH4 0 genome.wustl.edu 37 6 32163290 32163290 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32163290 32163290 C - DEL NOTCH4 ENST00000375023 human ensembl 74_37 -1 known frame_shift_del c.5936 p.G1979fs 0.028 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 126 0 0 96 16 14.2857 TAP1 0 genome.wustl.edu 37 6 32818896 32818896 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32818896 32818896 G - DEL TAP1 ENST00000354258 human ensembl 74_37 -1 known frame_shift_del c.1055 p.T352fs 0.997 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 47 0 0 38 11 22.449 TAP1 0 genome.wustl.edu 37 6 32819902 32819903 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 32819902 32819903 - A INS TAP1 ENST00000354258 human ensembl 74_37 -1 known frame_shift_ins c.1008_1007 p.Q337fs 1.000:1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP1 HGNC ENSG00000168394 81 0 0 57 11 16.1765 SLC39A7 0 genome.wustl.edu 37 6 33169042 33169042 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33169042 33169042 C - DEL SLC39A7 ENST00000374675 human ensembl 74_37 +1 known frame_shift_del c.20 p.H9fs 0.998 NULL pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC ENSG00000112473 159 0 0 133 27 16.875 RING1 0 genome.wustl.edu 37 6 33178989 33178990 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33178989 33178990 - G INS RING1 ENST00000374656 human ensembl 74_37 +1 known frame_shift_ins c.510_511 p.E172fs 1.000:1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 194 0 0 161 24 12.973 ZBTB9 0 genome.wustl.edu 37 6 33423997 33423997 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 33423997 33423997 G - DEL ZBTB9 ENST00000395064 human ensembl 74_37 +1 known frame_shift_del c.1120 p.T376fs 0.998 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB9 HGNC ENSG00000213588 36 0 0 43 9 17.3077 DNAH8 0 genome.wustl.edu 37 6 38743641 38743641 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38743641 38743641 A - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.1225 p.K410fs 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 272 0 0 217 15 6.46552 DNAH8 0 genome.wustl.edu 37 6 38825396 38825396 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38825396 38825396 T - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.5185 p.L1730fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 103 0 0 64 15 18.9873 DNAH8 0 genome.wustl.edu 37 6 38840517 38840517 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 38840517 38840517 T - DEL DNAH8 ENST00000359357 human ensembl 74_37 +1 known frame_shift_del c.6545 p.S2184fs 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 92 0 0 58 16 21.6216 KIF6 0 genome.wustl.edu 37 6 39580993 39580993 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 39580993 39580993 A - DEL KIF6 ENST00000287152 human ensembl 74_37 -1 known frame_shift_del c.611 p.L204fs 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,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC ENSG00000164627 77 0 0 64 12 15.7895 ZNF318 0 genome.wustl.edu 37 6 43322917 43322918 + Frame_Shift_Ins INS - - TGGA TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 43322917 43322918 - TGGA INS ZNF318 ENST00000361428 human ensembl 74_37 -1 known frame_shift_ins c.2155_2154 p.V718fs 0.000:0.001 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 62 0 0 69 9 11.5385 CENPQ 0 genome.wustl.edu 37 6 49437952 49437952 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 49437952 49437952 A - DEL CENPQ ENST00000335783 human ensembl 74_37 +1 known frame_shift_del c.63 p.K23fs 0.994 NULL NULL - no_errors CENPQ HGNC ENSG00000031691 58 0 0 37 9 19.5652 DEFB112 0 genome.wustl.edu 37 6 50016321 50016322 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 50016321 50016322 - T INS DEFB112 ENST00000322246 human ensembl 74_37 -1 known frame_shift_ins c.44_43 p.M15fs 0.000:0.000 NULL NULL - no_errors DEFB112 HGNC ENSG00000180872 113 0 0 81 9 10 EFHC1 0 genome.wustl.edu 37 6 52334208 52334208 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 52334208 52334208 A - DEL EFHC1 ENST00000371068 human ensembl 74_37 +1 known frame_shift_del c.1215 p.D408fs 0.140 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_hand_dom - no_errors EFHC1 HGNC ENSG00000096093 188 0 0 119 13 9.84848 KLHL31 0 genome.wustl.edu 37 6 53519513 53519514 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 53519513 53519514 - T INS KLHL31 ENST00000370905 human ensembl 74_37 -1 known frame_shift_ins c.558_557 p.N186fs 0.155:0.258 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 92 0 0 69 11 13.75 FAM83B 0 genome.wustl.edu 37 6 54804674 54804674 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 54804674 54804674 A - DEL FAM83B ENST00000306858 human ensembl 74_37 +1 known frame_shift_del c.905 p.N303fs 1.000 NULL pfam_DUF1669 - no_errors FAM83B HGNC ENSG00000168143 107 0 0 69 19 21.5909 OGFRL1 0 genome.wustl.edu 37 6 72011643 72011643 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 72011643 72011643 A - DEL OGFRL1 ENST00000370435 human ensembl 74_37 +1 known frame_shift_del c.1247 p.K418fs 0.555 NULL pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 143 0 0 95 28 22.7642 COL12A1 0 genome.wustl.edu 37 6 75797397 75797397 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 75797397 75797397 G - DEL COL12A1 ENST00000322507 human ensembl 74_37 -1 known frame_shift_del c.9077 p.P3026fs 1.000 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 143 0 0 135 13 8.78378 ZNF292 0 genome.wustl.edu 37 6 87968052 87968053 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 87968052 87968053 - T INS ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_ins c.4705_4706 p.P1571fs 0.948:0.953 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 51 0 0 43 7 14 ORC3 0 genome.wustl.edu 37 6 88318838 88318838 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 88318838 88318838 A - DEL ORC3 ENST00000257789 human ensembl 74_37 +1 known frame_shift_del c.604 p.R204fs 1.000 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 88 0 0 73 6 7.59494 ANKRD6 0 genome.wustl.edu 37 6 90338889 90338891 + In_Frame_Del DEL AGA AGA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 90338889 90338891 AGA - DEL ANKRD6 ENST00000339746 human ensembl 74_37 +1 known in_frame_del c.1544_1546 p.K516in_frame_del 1.000:1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 112 0 0 100 7 6.54206 GPR63 0 genome.wustl.edu 37 6 97247161 97247161 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 6 97247161 97247161 A - DEL GPR63 ENST00000229955 human ensembl 74_37 -1 known frame_shift_del c.447 p.F149fs 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 90 0 0 76 20 20.8333 ZCWPW1 0 genome.wustl.edu 37 7 100002680 100002680 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 100002680 100002680 C - DEL ZCWPW1 ENST00000398027 human ensembl 74_37 -1 known frame_shift_del c.1207 p.V403fs 0.063 NULL pfam_Znf_CW,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 236 0 0 176 42 19.2661 MYL10 0 genome.wustl.edu 37 7 101256825 101256825 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 101256825 101256825 G - DEL MYL10 ENST00000223167 human ensembl 74_37 -1 known frame_shift_del c.611 p.P204fs 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL10 HGNC ENSG00000106436 99 0 0 92 7 7.07071 C7orf50 0 genome.wustl.edu 37 7 1037311 1037311 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 1037311 1037311 G - DEL C7orf50 ENST00000357429 human ensembl 74_37 -1 known frame_shift_del c.535 p.L179fs 0.001 NULL pfam_DUF2373 - no_errors C7orf50 HGNC ENSG00000146540 29 0 0 31 10 24.3902 TMEM168 0 genome.wustl.edu 37 7 112424238 112424238 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 112424238 112424238 A - DEL TMEM168 ENST00000312814 human ensembl 74_37 -1 known frame_shift_del c.643 p.S215fs 0.968 NULL superfamily_ConA-like_lec_gl_sf - no_errors TMEM168 HGNC ENSG00000146802 118 0 0 100 9 8.25688 MET 0 genome.wustl.edu 37 7 116403177 116403178 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 116403177 116403178 - C INS MET ENST00000318493 human ensembl 74_37 +1 known frame_shift_ins c.2492_2493 p.L833fs 1.000:1.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 117 0 0 94 7 6.93069 CTTNBP2 0 genome.wustl.edu 37 7 117450910 117450910 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 117450910 117450910 A - DEL CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known frame_shift_del c.323 p.L108fs 1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 225 0 0 195 11 5.33981 FAM3C 0 genome.wustl.edu 37 7 121002996 121002996 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 121002996 121002996 T - DEL FAM3C ENST00000359943 human ensembl 74_37 -1 known frame_shift_del c.337 p.T113fs 1.000 NULL NULL - no_errors FAM3C HGNC ENSG00000196937 65 0 0 54 9 14.2857 PLXNA4 0 genome.wustl.edu 37 7 132192942 132192943 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 132192942 132192943 - A INS PLXNA4 ENST00000321063 human ensembl 74_37 -1 known frame_shift_ins c.511_510 p.G170fs 1.000:0.999 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 82 0 0 76 8 9.52381 SVOPL 0 genome.wustl.edu 37 7 138312995 138312996 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 138312995 138312996 - C INS SVOPL ENST00000288513 human ensembl 74_37 -1 known frame_shift_ins c.521_520 p.D174fs 0.003:0.006 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SVOPL HGNC ENSG00000157703 105 0 0 66 12 15.3846 JHDM1D 0 genome.wustl.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 139833448 139833448 T - DEL JHDM1D ENST00000397560 human ensembl 74_37 -1 known frame_shift_del c.289 p.R97fs 1.000 superfamily_Znf_FYVE_PHD pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors JHDM1D HGNC ENSG00000006459 97 0 0 92 7 7.07071 DENND2A 0 genome.wustl.edu 37 7 140223197 140223197 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 140223197 140223197 G - DEL DENND2A ENST00000275884 human ensembl 74_37 -1 known frame_shift_del c.2575 p.R859fs 1.000 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 DENND2A HGNC ENSG00000146966 50 0 0 41 7 14.5833 DGKB 0 genome.wustl.edu 37 7 14188809 14188809 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 14188809 14188809 T - DEL DGKB ENST00000258767 human ensembl 74_37 -1 known frame_shift_del c.2362 p.T788fs 0.973 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 197 0 0 136 21 13.3758 EPHB6 0 genome.wustl.edu 37 7 142561448 142561448 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142561448 142561448 G - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.160 p.W56fs 0.984 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 78 0 0 79 9 10.2273 EPHB6 0 genome.wustl.edu 37 7 142562398 142562398 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 142562398 142562398 C - DEL EPHB6 ENST00000392957 human ensembl 74_37 +1 known frame_shift_del c.840 p.R283fs 0.997 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 97 0 0 93 14 13.0841 REPIN1 0 genome.wustl.edu 37 7 150069797 150069797 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150069797 150069797 C - DEL REPIN1 ENST00000489432 human ensembl 74_37 +1 known frame_shift_del c.1638 p.D548fs 0.226 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REPIN1 HGNC ENSG00000214022 61 0 0 64 5 7.24638 GIMAP7 0 genome.wustl.edu 37 7 150217889 150217889 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150217889 150217889 T - DEL GIMAP7 ENST00000313543 human ensembl 74_37 +1 known frame_shift_del c.827 p.F277fs 0.002 NULL pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP7 HGNC ENSG00000179144 104 0 0 48 9 15.7895 CHPF2 0 genome.wustl.edu 37 7 150935382 150935383 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 150935382 150935383 - C INS CHPF2 ENST00000035307 human ensembl 74_37 +1 known frame_shift_ins c.1934_1935 p.S648fs 1.000:0.983 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHPF2 HGNC ENSG00000033100 43 0 0 37 9 19.5652 PRKAG2 0 genome.wustl.edu 37 7 151372597 151372597 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 151372597 151372597 G - DEL PRKAG2 ENST00000287878 human ensembl 74_37 -1 known frame_shift_del c.593 p.P198fs 0.997 NULL pfam_CBS_dom,smart_CBS_dom - no_errors PRKAG2 HGNC ENSG00000106617 97 0 0 95 22 18.8034 RBM33 0 genome.wustl.edu 37 7 155556609 155556609 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 155556609 155556609 G - DEL RBM33 ENST00000401878 human ensembl 74_37 +1 known frame_shift_del c.3083 p.G1030fs 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 14 0 0 11 4 26.6667 TSPAN13 0 genome.wustl.edu 37 7 16815998 16815998 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 16815998 16815998 T - DEL TSPAN13 ENST00000262067 human ensembl 74_37 +1 known frame_shift_del c.226 p.Y78fs 0.999 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC ENSG00000106537 125 0 0 75 19 20.2128 TWISTNB 0 genome.wustl.edu 37 7 19738024 19738024 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 19738024 19738024 T - DEL TWISTNB ENST00000222567 human ensembl 74_37 -1 known frame_shift_del c.932 p.K311fs 1.000 NULL pfam_RNA_pol_Rpb7_N - no_errors TWISTNB HGNC ENSG00000105849 222 1 0.44843 182 14 7.14286 ITGB8 0 genome.wustl.edu 37 7 20441551 20441554 + Frame_Shift_Del DEL AATA AATA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AATA AATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 20441551 20441554 AATA - DEL ITGB8 ENST00000222573 human ensembl 74_37 +1 known frame_shift_del c.1489_1492 p.K498fs 0.013:0.000:0.000:0.000 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 143 0 0 94 12 11.3208 ITGB8 0 genome.wustl.edu 37 7 20444380 20444381 + Frame_Shift_Ins INS - - GT TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 20444380 20444381 - GT INS ITGB8 ENST00000222573 human ensembl 74_37 +1 known frame_shift_ins c.1817_1818 p.C610fs 0.095:0.040 pirsf_Integrin_bsu,pfam_EGF_extracell pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 101 0 0 64 14 17.9487 FTSJ2 0 genome.wustl.edu 37 7 2275142 2275143 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 2275142 2275143 - G INS FTSJ2 ENST00000242257 human ensembl 74_37 -1 known frame_shift_ins c.356_355 p.L119fs 0.999:0.505 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 80 0 0 88 5 5.37634 KLHL7 0 genome.wustl.edu 37 7 23164753 23164754 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 23164753 23164754 - T INS KLHL7 ENST00000339077 human ensembl 74_37 +1 known frame_shift_ins c.404_405 p.L137fs 1.000:0.998 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 114 0 0 86 11 11.3402 OSBPL3 0 genome.wustl.edu 37 7 24892203 24892204 + Frame_Shift_Del DEL TC TC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 24892203 24892204 TC - DEL OSBPL3 ENST00000313367 human ensembl 74_37 -1 known frame_shift_del c.1078_1077 p.K360fs 0.999:0.999 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 81 0 0 52 6 10.3448 HOXA11 0 genome.wustl.edu 37 7 27224617 27224619 + In_Frame_Del DEL GGA GGA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 27224617 27224619 GGA - DEL HOXA11 ENST00000006015 human ensembl 74_37 -1 known in_frame_del c.147_145 p.S49in_frame_del 1.000:1.000:1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA11 HGNC ENSG00000005073 142 0 0 111 16 12.5984 FKBP9 0 genome.wustl.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 33014803 33014804 - C INS FKBP9 ENST00000538336 human ensembl 74_37 +1 known frame_shift_ins c.536_537 p.N182fs 1.000:0.998 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 117 0 0 85 7 7.6087 POU6F2 0 genome.wustl.edu 37 7 39247047 39247047 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 39247047 39247047 C - DEL POU6F2 ENST00000403058 human ensembl 74_37 +1 known frame_shift_del c.339 p.P115fs 1.000 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU6F2 HGNC ENSG00000106536 160 0 0 175 10 5.40541 CAMK2B 0 genome.wustl.edu 37 7 44281896 44281896 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 44281896 44281896 T - DEL CAMK2B ENST00000395749 human ensembl 74_37 -1 known frame_shift_del c.740 p.N247fs 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_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2B HGNC ENSG00000058404 90 0 0 110 14 11.2903 ZMIZ2 0 genome.wustl.edu 37 7 44796612 44796612 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 44796612 44796612 G - DEL ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known frame_shift_del c.232 p.G79fs 0.952 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 92 0 0 89 11 11 CCM2 0 genome.wustl.edu 37 7 45108060 45108060 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 45108060 45108060 C - DEL CCM2 ENST00000381112 human ensembl 74_37 +1 known frame_shift_del c.554 p.S187fs 1.000 pfscan_PTB/PI_dom pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 76 0 0 84 7 7.69231 ABCA13 0 genome.wustl.edu 37 7 48287869 48287869 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 48287869 48287869 A - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.1693 p.N566fs 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 80 0 0 64 10 13.5135 ABCA13 0 genome.wustl.edu 37 7 48314550 48314550 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 48314550 48314550 A - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.5287 p.N1764fs 0.073 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 94 0 0 51 18 26.087 DDC 0 genome.wustl.edu 37 7 50531075 50531075 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 50531075 50531075 T - DEL DDC ENST00000357936 human ensembl 74_37 -1 known frame_shift_del c.1297 p.I433fs 1.000 superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors DDC HGNC ENSG00000132437 101 0 0 57 12 17.3913 SUMF2 0 genome.wustl.edu 37 7 56147328 56147328 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 56147328 56147328 A - DEL SUMF2 ENST00000342190 human ensembl 74_37 +1 known frame_shift_del c.841 p.S282fs 0.000 NULL pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF2 HGNC ENSG00000129103 73 0 0 66 12 15.3846 CCL24 0 genome.wustl.edu 37 7 75441243 75441243 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 75441243 75441243 G - DEL CCL24 ENST00000222902 human ensembl 74_37 -1 known frame_shift_del c.231 p.K78fs 0.066 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL24 HGNC ENSG00000106178 71 0 0 74 7 8.64198 CACNA2D1 0 genome.wustl.edu 37 7 81667483 81667483 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 81667483 81667483 T - DEL CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known frame_shift_del c.948 p.V317fs 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 193 0 0 108 26 19.403 ICA1 0 genome.wustl.edu 37 7 8198251 8198251 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 8198251 8198251 T - DEL ICA1 ENST00000422063 human ensembl 74_37 -1 known frame_shift_del c.611 p.N204fs 1.000 pfam_AH_dom,pfscan_AH_dom pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom - no_errors ICA1 HGNC ENSG00000003147 86 0 0 55 19 25.6757 CROT 0 genome.wustl.edu 37 7 87022127 87022127 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87022127 87022127 T - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.1586 p.S531fs 0.999 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 114 0 0 77 5 6.09756 RUNDC3B 0 genome.wustl.edu 37 7 87258157 87258157 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87258157 87258157 G - DEL RUNDC3B ENST00000338056 human ensembl 74_37 +1 known frame_shift_del c.18 p.G8fs 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 10 0 0 5 4 44.4444 ADAM22 0 genome.wustl.edu 37 7 87759706 87759706 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 87759706 87759706 A - DEL ADAM22 ENST00000265727 human ensembl 74_37 +1 known frame_shift_del c.757 p.K254fs 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 94 0 0 65 14 17.7215 CYP51A1 0 genome.wustl.edu 37 7 91752494 91752494 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 91752494 91752494 T - DEL CYP51A1 ENST00000003100 human ensembl 74_37 -1 known frame_shift_del c.1026 p.K342fs 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 227 2 0.873362 164 14 7.86517 ANKIB1 0 genome.wustl.edu 37 7 91936914 91936914 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 91936914 91936914 A - DEL ANKIB1 ENST00000265742 human ensembl 74_37 +1 known frame_shift_del c.430 p.N146fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Znf_C6HC,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Znf_RING,smart_Znf_C6HC,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING - no_errors ANKIB1 HGNC ENSG00000001629 60 0 0 39 8 17.0213 DLX5 0 genome.wustl.edu 37 7 96653778 96653778 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 96653778 96653778 C - DEL DLX5 ENST00000222598 human ensembl 74_37 -1 known frame_shift_del c.158 p.G53fs 1.000 pfam_Distal-less_N pfam_Distal-less_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX5 HGNC ENSG00000105880 97 0 0 83 17 17 ARPC1A 0 genome.wustl.edu 37 7 98946494 98946494 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 98946494 98946494 A - DEL ARPC1A ENST00000262942 human ensembl 74_37 +1 known frame_shift_del c.412 p.K139fs 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 117 0 0 100 9 8.25688 ZKSCAN5 0 genome.wustl.edu 37 7 99103706 99103706 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99103706 99103706 C - DEL ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_del c.39 p.P15fs 0.980 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 118 0 0 94 23 19.6581 ZKSCAN5 0 genome.wustl.edu 37 7 99124010 99124010 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 7 99124010 99124010 A - DEL ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known frame_shift_del c.1347 p.K450fs 0.997 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ENSG00000196652 324 0 0 266 16 5.67376 VPS13B 0 genome.wustl.edu 37 8 100654346 100654346 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 100654346 100654346 A - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.5603 p.T1870fs 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 99 0 0 124 10 7.46269 RGS22 0 genome.wustl.edu 37 8 101092539 101092539 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 101092539 101092539 A - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.162 p.F54fs 1.000 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 54 0 0 65 8 10.9589 FBXO43 0 genome.wustl.edu 37 8 101153474 101153474 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 101153474 101153474 A - DEL FBXO43 ENST00000428847 human ensembl 74_37 -1 known frame_shift_del c.1008 p.F336fs 0.999 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 136 0 0 180 10 5.26316 UBR5 0 genome.wustl.edu 37 8 103372393 103372393 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 103372393 103372393 C - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.292 p.A98fs 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 89 0 0 108 14 11.4754 XKR6 0 genome.wustl.edu 37 8 10755816 10755816 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 10755816 10755816 G - DEL XKR6 ENST00000416569 human ensembl 74_37 -1 known frame_shift_del c.1572 p.D525fs 0.999 NULL pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 54 0 0 78 9 10.3448 ANGPT1 0 genome.wustl.edu 37 8 108509628 108509629 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 108509628 108509629 - T INS ANGPT1 ENST00000517746 human ensembl 74_37 -1 known frame_shift_ins c.159_158 p.N53fs 1.000:1.000 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 111 0 0 151 9 5.625 SYBU 0 genome.wustl.edu 37 8 110588011 110588012 + Frame_Shift_Del DEL GA GA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 110588011 110588012 GA - DEL SYBU ENST00000276646 human ensembl 74_37 -1 known frame_shift_del c.1116_1115 p.L372fs 0.945:1.000 NULL NULL - no_errors SYBU HGNC ENSG00000147642 76 0 0 107 7 6.14035 FAM167A 0 genome.wustl.edu 37 8 11301908 11301908 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 11301908 11301908 G - DEL FAM167A ENST00000284486 human ensembl 74_37 -1 known frame_shift_del c.13 p.Q5fs 0.953 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 129 0 0 210 12 5.40541 TAF2 0 genome.wustl.edu 37 8 120818621 120818622 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 120818621 120818622 - A INS TAF2 ENST00000378164 human ensembl 74_37 -1 known frame_shift_ins c.320_319 p.S107fs 1.000:1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 131 0 0 153 13 7.83133 MTBP 0 genome.wustl.edu 37 8 121468887 121468887 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 121468887 121468887 A - DEL MTBP ENST00000305949 human ensembl 74_37 +1 known frame_shift_del c.724 p.I243fs 1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 315 0 0 409 27 6.19266 FER1L6 0 genome.wustl.edu 37 8 124998349 124998350 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 124998349 124998350 - T INS FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_ins c.1452_1453 p.E486fs 0.999:1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 122 0 0 128 12 8.57143 ZNF572 0 genome.wustl.edu 37 8 125990037 125990038 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 125990037 125990038 - A INS ZNF572 ENST00000319286 human ensembl 74_37 +1 known frame_shift_ins c.1527_1528 p.N510fs 0.063:0.105 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 110 0 0 149 13 8.02469 KCNQ3 0 genome.wustl.edu 37 8 133141799 133141799 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133141799 133141799 G - DEL KCNQ3 ENST00000388996 human ensembl 74_37 -1 known frame_shift_del c.2329 p.R777fs 0.017 pfam_Ankyrin-G_BS pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 57 0 0 79 5 5.95238 KCNQ3 0 genome.wustl.edu 37 8 133150233 133150233 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 133150233 133150233 T - DEL KCNQ3 ENST00000388996 human ensembl 74_37 -1 known frame_shift_del c.1599 p.K533fs 0.715 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 161 0 0 162 18 10 WISP1 0 genome.wustl.edu 37 8 134232957 134232957 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 134232957 134232957 C - DEL WISP1 ENST00000250160 human ensembl 74_37 +1 known frame_shift_del c.483 p.P163fs 0.918 pfam_VWF_C,smart_VWF_C,pirsf_IGFBP_CNN,pfscan_VWF_C 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 64 0 0 105 12 10.2564 ZFAT 0 genome.wustl.edu 37 8 135669826 135669826 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 135669826 135669826 G - DEL ZFAT ENST00000377838 human ensembl 74_37 -1 known frame_shift_del c.174 p.N59fs 0.930 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 55 0 0 85 9 9.57447 COL22A1 0 genome.wustl.edu 37 8 139611097 139611097 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 139611097 139611097 T - DEL COL22A1 ENST00000303045 human ensembl 74_37 -1 known frame_shift_del c.4230 p.G1411fs 1.000 pfam_Collagen 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 49 0 0 86 7 7.52688 AGO2 0 genome.wustl.edu 37 8 141561430 141561430 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 141561430 141561430 G - DEL AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_del c.1375 p.Q459fs 1.000 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 83 0 0 123 8 6.10687 CCAR2 0 genome.wustl.edu 37 8 22472975 22472975 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22472975 22472975 C - DEL CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_del c.1243 p.R417fs 1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 153 0 0 217 36 14.2292 RHOBTB2 0 genome.wustl.edu 37 8 22864673 22864673 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 22864673 22864673 G - DEL RHOBTB2 ENST00000251822 human ensembl 74_37 +1 known frame_shift_del c.915 p.G307fs 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 82 0 0 96 22 18.6441 EBF2 0 genome.wustl.edu 37 8 25718689 25718689 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 25718689 25718689 G - DEL EBF2 ENST00000520164 human ensembl 74_37 -1 known frame_shift_del c.1218 p.R407fs 0.994 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 126 0 0 172 11 6.01093 ADRA1A 0 genome.wustl.edu 37 8 26722383 26722383 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 26722383 26722383 C - DEL ADRA1A ENST00000380586 human ensembl 74_37 -1 known frame_shift_del c.104 p.G35fs 0.919 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 225 0 0 261 48 15.534 NUGGC 0 genome.wustl.edu 37 8 27891059 27891059 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 27891059 27891059 A - DEL NUGGC ENST00000341513 human ensembl 74_37 -1 known frame_shift_del c.1767 p.F589fs 1.000 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 74 0 0 77 9 10.4651 DCTN6 0 genome.wustl.edu 37 8 30036948 30036950 + In_Frame_Del DEL ATA ATA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 ATA ATA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30036948 30036950 ATA - DEL DCTN6 ENST00000221114 human ensembl 74_37 +1 known in_frame_del c.308_310 p.N105in_frame_del 1.000:1.000:1.000 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC ENSG00000104671 62 0 0 52 7 11.8644 TEX15 0 genome.wustl.edu 37 8 30701013 30701013 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30701013 30701013 C - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.5521 p.D1841fs 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 150 0 0 159 10 5.91716 TEX15 0 genome.wustl.edu 37 8 30701516 30701516 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30701516 30701516 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.5018 p.N1673fs 0.817 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 160 0 0 147 18 10.9091 TEX15 0 genome.wustl.edu 37 8 30703516 30703516 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 30703516 30703516 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.3018 p.A1007fs 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 288 1 0.346021 296 32 9.7561 NRG1 0 genome.wustl.edu 37 8 32453511 32453511 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 32453511 32453511 A - DEL NRG1 ENST00000338921 human ensembl 74_37 +1 known frame_shift_del c.266 p.K91fs 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 111 1 0.892857 112 16 12.5 BAG4 0 genome.wustl.edu 37 8 38067994 38067995 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 38067994 38067995 - A INS BAG4 ENST00000287322 human ensembl 74_37 +1 known frame_shift_ins c.1357_1358 p.G456fs 1.000:1.000 smart_BAG_domain,pfscan_BAG_domain pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG4 HGNC ENSG00000156735 96 0 0 67 7 9.45946 AP3M2 0 genome.wustl.edu 37 8 42024863 42024864 + Frame_Shift_Del DEL AC AC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 42024863 42024864 AC - DEL AP3M2 ENST00000174653 human ensembl 74_37 +1 known frame_shift_del c.985_986 p.T331fs 0.336:0.350 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M2 HGNC ENSG00000070718 72 0 0 83 13 13.5417 HOOK3 0 genome.wustl.edu 37 8 42857261 42857261 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 42857261 42857261 A - DEL HOOK3 ENST00000307602 human ensembl 74_37 +1 known frame_shift_del c.1632 p.K546fs 0.988 pfam_Hook-related_fam,superfamily_t-SNARE pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 148 0 0 123 16 11.5108 PRKDC 0 genome.wustl.edu 37 8 48866910 48866910 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 48866910 48866910 T - DEL PRKDC ENST00000314191 human ensembl 74_37 -1 known frame_shift_del c.496 p.I166fs 0.999 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 9 0 0 12 6 33.3333 ERICH1 0 genome.wustl.edu 37 8 623321 623321 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 623321 623321 A - DEL ERICH1 ENST00000262109 human ensembl 74_37 -1 known frame_shift_del c.1031 p.L344fs 0.731 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 160 0 0 185 13 6.56566 MCPH1 0 genome.wustl.edu 37 8 6302639 6302639 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 6302639 6302639 A - DEL MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_del c.1396 p.T468fs 0.010 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 104 0 0 108 29 21.1679 ANGPT2 0 genome.wustl.edu 37 8 6378798 6378798 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 6378798 6378798 T - DEL ANGPT2 ENST00000325203 human ensembl 74_37 -1 known frame_shift_del c.700 p.I234fs 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 135 0 0 129 32 19.8758 ARFGEF1 0 genome.wustl.edu 37 8 68184005 68184006 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 68184005 68184006 - A INS ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_ins c.1504_1503 p.E501fs 1.000:1.000 superfamily_ARM-type_fold pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 81 0 0 67 6 8.21918 ZFHX4 0 genome.wustl.edu 37 8 77767171 77767171 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 77767171 77767171 C - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.8014 p.Q2672fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 127 0 0 171 12 6.55738 FAM86B3P 0 genome.wustl.edu 37 8 8098084 8098084 + RNA DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 8098084 8098084 A - DEL FAM86B3P ENST00000310542 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors FAM86B3P HGNC ENSG00000173295 10 0 0 14 5 26.3158 ZBTB10 0 genome.wustl.edu 37 8 81412243 81412243 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 81412243 81412243 A - DEL ZBTB10 ENST00000430430 human ensembl 74_37 +1 known frame_shift_del c.1487 p.I498fs 0.999 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB10 HGNC ENSG00000205189 248 0 0 267 23 7.93103 TMEM64 0 genome.wustl.edu 37 8 91643787 91643788 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 91643787 91643788 - A INS TMEM64 ENST00000458549 human ensembl 74_37 -1 known frame_shift_ins c.944_943 p.C315fs 1.000:1.000 NULL pfam_SNARE_assoc - no_errors TMEM64 HGNC ENSG00000180694 113 0 0 131 10 7.0922 GEM 0 genome.wustl.edu 37 8 95262598 95262599 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 95262598 95262599 - T INS GEM ENST00000297596 human ensembl 74_37 -1 known frame_shift_ins c.831_830 p.N277fs 0.998:1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors GEM HGNC ENSG00000164949 88 0 0 114 11 8.8 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 99 0 0 95 58 37.9085 GABBR2 0 genome.wustl.edu 37 9 101235552 101235552 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 101235552 101235552 T - DEL GABBR2 ENST00000259455 human ensembl 74_37 -1 known frame_shift_del c.875 p.Q292fs 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 61 0 0 64 6 8.57143 ALG2 0 genome.wustl.edu 37 9 101980276 101980276 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 101980276 101980276 T - DEL ALG2 ENST00000476832 human ensembl 74_37 -1 known frame_shift_del c.1191 p.K397fs 0.960 NULL pfam_Glyco_trans_1 - no_errors ALG2 HGNC ENSG00000119523 116 0 0 92 21 18.5841 STX17 0 genome.wustl.edu 37 9 102730007 102730007 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 102730007 102730007 A - DEL STX17 ENST00000259400 human ensembl 74_37 +1 known frame_shift_del c.655 p.N220fs 1.000 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 102 0 0 86 11 11.3402 TEX10 0 genome.wustl.edu 37 9 103102604 103102604 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 103102604 103102604 A - DEL TEX10 ENST00000374902 human ensembl 74_37 -1 known frame_shift_del c.1185 p.F395fs 1.000 superfamily_ARM-type_fold pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 322 0 0 192 32 14.2857 ZNF462 0 genome.wustl.edu 37 9 109689705 109689705 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 109689705 109689705 C - DEL ZNF462 ENST00000457913 human ensembl 74_37 +1 known frame_shift_del c.3512 p.I1173fs 0.861 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 176 0 0 150 14 8.53659 UGCG 0 genome.wustl.edu 37 9 114695180 114695180 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 114695180 114695180 T - DEL UGCG ENST00000374279 human ensembl 74_37 +1 known frame_shift_del c.1088 p.L365fs 1.000 NULL pfam_Glyco_trans_2 - no_errors UGCG HGNC ENSG00000148154 126 0 0 112 29 20.5674 TNC 0 genome.wustl.edu 37 9 117819512 117819512 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 117819512 117819512 G - DEL TNC ENST00000350763 human ensembl 74_37 -1 known frame_shift_del c.4499 p.P1500fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 155 0 0 137 8 5.51724 PAPPA 0 genome.wustl.edu 37 9 119065092 119065093 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 119065092 119065093 - A INS PAPPA ENST00000328252 human ensembl 74_37 +1 known frame_shift_ins c.3010_3011 p.T1006fs 1.000:1.000 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 99 0 0 72 26 26.5306 ODF2 0 genome.wustl.edu 37 9 131261330 131261331 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131261330 131261331 - A INS ODF2 ENST00000434106 human ensembl 74_37 +1 known frame_shift_ins c.2226_2227 p.I743fs 1.000:1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 112 0 0 118 8 6.34921 C9orf114 0 genome.wustl.edu 37 9 131591120 131591120 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 131591120 131591120 T - DEL C9orf114 ENST00000361256 human ensembl 74_37 -1 known frame_shift_del c.102 p.K34fs 0.998 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 142 0 0 100 38 27.5362 NUP214 0 genome.wustl.edu 37 9 134090704 134090704 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 134090704 134090704 A - DEL NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_del c.5701 p.N1902fs 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 97 0 0 97 7 6.73077 SETX 0 genome.wustl.edu 37 9 135202582 135202582 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135202582 135202582 C - DEL SETX ENST00000372169 human ensembl 74_37 -1 known frame_shift_del c.4403 p.G1468fs 0.357 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 169 0 0 130 30 18.75 TTF1 0 genome.wustl.edu 37 9 135277202 135277202 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 135277202 135277202 T - DEL TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_del c.1007 p.K336fs 0.912 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 127 0 0 101 9 8.18182 BRD3 0 genome.wustl.edu 37 9 136917543 136917543 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 136917543 136917543 T - DEL BRD3 ENST00000303407 human ensembl 74_37 -1 known frame_shift_del c.236 p.N79fs 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 112 0 0 75 24 24.2424 COL5A1 0 genome.wustl.edu 37 9 137676927 137676928 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 137676927 137676928 - C INS COL5A1 ENST00000371817 human ensembl 74_37 +1 known frame_shift_ins c.2577_2578 p.G861fs 0.924:0.984 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 COL5A1 HGNC ENSG00000130635 43 0 0 36 6 14.2857 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 73 0 0 52 20 27.7778 FAM69B 0 genome.wustl.edu 37 9 139616665 139616665 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 139616665 139616665 C - DEL FAM69B ENST00000371692 human ensembl 74_37 +1 known frame_shift_del c.395 p.R134fs 0.215 NULL pfam_FAM69_kinase_dom - no_errors FAM69B HGNC ENSG00000165716 54 0 0 36 9 20 NDOR1 0 genome.wustl.edu 37 9 140100743 140100743 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140100743 140100743 C - DEL NDOR1 ENST00000371521 human ensembl 74_37 +1 known frame_shift_del c.195 p.P67fs 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 288 0 0 226 21 8.50202 TUBB4B 0 genome.wustl.edu 37 9 140137541 140137543 + In_Frame_Del DEL CAG CAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 140137541 140137543 CAG - DEL TUBB4B ENST00000340384 human ensembl 74_37 +1 known in_frame_del c.871_873 p.Q292in_frame_del 1.000:1.000:1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB4B HGNC ENSG00000188229 67 0 0 66 15 18.5185 ADAMTSL1 0 genome.wustl.edu 37 9 18680350 18680350 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 18680350 18680350 G - DEL ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_del c.1177 p.G395fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 43 0 0 44 8 15.3846 HAUS6 0 genome.wustl.edu 37 9 19063047 19063047 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 19063047 19063047 T - DEL HAUS6 ENST00000380502 human ensembl 74_37 -1 known frame_shift_del c.1588 p.S530fs 0.006 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 200 0 0 134 25 15.7233 DENND4C 0 genome.wustl.edu 37 9 19296164 19296164 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 19296164 19296164 T - DEL DENND4C ENST00000602925 human ensembl 74_37 +1 known frame_shift_del c.960 p.F322fs 0.998 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 194 0 0 129 32 19.8758 PTPLAD2 0 genome.wustl.edu 37 9 21007046 21007046 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 21007046 21007046 T - DEL PTPLAD2 ENST00000495827 human ensembl 74_37 -1 known frame_shift_del c.689 p.K230fs 1.000 NULL pfam_Tyr_Pase-like_PTPLA - no_errors PTPLAD2 HGNC ENSG00000188921 169 0 0 123 10 7.5188 KIAA0020 0 genome.wustl.edu 37 9 2838446 2838446 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 2838446 2838446 T - DEL KIAA0020 ENST00000397885 human ensembl 74_37 -1 known frame_shift_del c.62 p.N21fs 0.000 NULL pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC ENSG00000080608 181 1 0.549451 111 24 17.7778 TAF1L 0 genome.wustl.edu 37 9 32633584 32633584 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 32633584 32633584 T - DEL TAF1L ENST00000242310 human ensembl 74_37 -1 known frame_shift_del c.1994 p.K665fs 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 140 0 0 120 9 6.97674 C9orf131 0 genome.wustl.edu 37 9 35043650 35043650 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35043650 35043650 C - DEL C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_del c.1024 p.C344fs 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 397 0 0 314 74 19.0722 C9orf131 0 genome.wustl.edu 37 9 35045452 35045453 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35045452 35045453 - A INS C9orf131 ENST00000312292 human ensembl 74_37 +1 known frame_shift_ins c.2826_2827 p.R944fs 0.015:0.016 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 129 0 0 126 10 7.35294 PIGO 0 genome.wustl.edu 37 9 35091523 35091523 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35091523 35091523 G - DEL PIGO ENST00000341666 human ensembl 74_37 -1 known frame_shift_del c.2361 p.T788fs 0.393 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC ENSG00000165282 95 0 0 86 8 8.51064 TESK1 0 genome.wustl.edu 37 9 35608959 35608960 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 35608959 35608960 - C INS TESK1 ENST00000336395 human ensembl 74_37 +1 known frame_shift_ins c.1101_1102 p.N369fs 0.196:0.728 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TESK1 HGNC ENSG00000107140 77 0 0 115 12 9.44882 GRHPR 0 genome.wustl.edu 37 9 37436746 37436747 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 37436746 37436747 - G INS GRHPR ENST00000318158 human ensembl 74_37 +1 known frame_shift_ins c.954_955 p.E319fs 0.991:1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors GRHPR HGNC ENSG00000137106 236 0 0 207 13 5.90909 SPATA31A6 0 genome.wustl.edu 37 9 43627287 43627287 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 43627287 43627287 A - DEL SPATA31A6 ENST00000332857 human ensembl 74_37 -1 known frame_shift_del c.1400 p.F467fs 0.000 NULL NULL - no_errors SPATA31A6 HGNC ENSG00000185775 654 0 0 539 85 13.6218 RANBP6 0 genome.wustl.edu 37 9 6015259 6015260 + Frame_Shift_Ins INS - - T TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 6015259 6015260 - T INS RANBP6 ENST00000259569 human ensembl 74_37 -1 known frame_shift_ins c.349_348 p.L116fs 1.000:1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 98 0 0 70 11 13.5802 TMEM2 0 genome.wustl.edu 37 9 74305064 74305064 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 74305064 74305064 A - DEL TMEM2 ENST00000377044 human ensembl 74_37 -1 known frame_shift_del c.3795 p.P1266fs 0.080 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 164 0 0 121 12 9.02256 VPS13A 0 genome.wustl.edu 37 9 79836219 79836219 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79836219 79836219 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.1108 p.K372fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 138 0 0 75 16 17.5824 VPS13A 0 genome.wustl.edu 37 9 79840849 79840849 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79840849 79840849 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.1169 p.T392fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 259 0 0 136 23 14.4654 VPS13A 0 genome.wustl.edu 37 9 79984308 79984308 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 79984308 79984308 T - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.8647 p.Y2885fs 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 190 0 0 99 27 21.4286 WNK2 0 genome.wustl.edu 37 9 96051831 96051831 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 96051831 96051831 G - DEL WNK2 ENST00000297954 human ensembl 74_37 +1 known frame_shift_del c.4906 p.D1638fs 0.045 NULL pfam_Prot_kinase_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_dom - no_errors WNK2 HGNC ENSG00000165238 13 0 0 21 6 22.2222 PTPDC1 0 genome.wustl.edu 37 9 96864017 96864017 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 9 96864017 96864017 T - DEL PTPDC1 ENST00000375360 human ensembl 74_37 +1 known frame_shift_del c.2021 p.L676fs 0.898 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase - no_errors PTPDC1 HGNC ENSG00000158079 114 0 0 64 18 21.9512 WWC3 0 genome.wustl.edu 37 X 10084471 10084472 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 10084471 10084472 - A INS WWC3 ENST00000380861 human ensembl 74_37 +1 known frame_shift_ins c.988_989 p.R332fs 1.000:1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 251 1 0.396825 215 14 6.11354 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 109 1 0.909091 82 7 7.86517 IRS4 0 genome.wustl.edu 37 X 107977803 107977803 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 107977803 107977803 C - DEL IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_del c.1772 p.G591fs 0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 270 0 0 188 95 33.5689 PAK3 0 genome.wustl.edu 37 X 110406911 110406912 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 110406911 110406912 - A INS PAK3 ENST00000360648 human ensembl 74_37 +1 known frame_shift_ins c.830_831 p.S280fs 1.000:1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 178 0 0 161 10 5.84795 AMELX 0 genome.wustl.edu 37 X 11316741 11316742 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 11316741 11316742 - C INS AMELX ENST00000380712 human ensembl 74_37 +1 known frame_shift_ins c.260_261 p.T90fs 0.988:0.955 pfam_Amelogenin,smart_Amelogenin pfam_Amelogenin,smart_Amelogenin,prints_Amelogenin - no_errors AMELX HGNC ENSG00000125363 115 0 0 108 28 20.5882 LUZP4 0 genome.wustl.edu 37 X 114537909 114537909 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 114537909 114537909 A - DEL LUZP4 ENST00000371920 human ensembl 74_37 +1 known frame_shift_del c.268 p.K91fs 0.000 NULL NULL - no_errors LUZP4 HGNC ENSG00000102021 282 0 0 197 14 6.63507 CUL4B 0 genome.wustl.edu 37 X 119694117 119694119 + In_Frame_Del DEL GAG GAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 119694117 119694119 GAG - DEL CUL4B ENST00000404115 human ensembl 74_37 -1 known in_frame_del c.431_429 p.S146in_frame_del 0.999:1.000:1.000 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 ENSG00000158290 77 0 0 53 9 14.5161 TENM1 0 genome.wustl.edu 37 X 123680796 123680797 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 123680796 123680797 - A INS TENM1 ENST00000422452 human ensembl 74_37 -1 known frame_shift_ins c.2579_2578 p.Y860fs 1.000:1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 136 0 0 94 15 13.7615 BCORL1 0 genome.wustl.edu 37 X 129190011 129190011 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129190011 129190011 C - DEL BCORL1 ENST00000303743 human ensembl 74_37 +1 known frame_shift_del c.5258 p.P1755fs 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 86 0 0 100 11 9.90991 ELF4 0 genome.wustl.edu 37 X 129203441 129203441 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 129203441 129203441 G - DEL ELF4 ENST00000308167 human ensembl 74_37 -1 known frame_shift_del c.1021 p.Q341fs 0.022 NULL pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 157 0 0 148 12 7.5 ARHGAP36 0 genome.wustl.edu 37 X 130215725 130215725 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 130215725 130215725 T - DEL ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known frame_shift_del c.86 p.L31fs 0.957 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 183 1 0.543478 148 33 18.232 ATP11C 0 genome.wustl.edu 37 X 138827930 138827932 + In_Frame_Del DEL AAG AAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 138827930 138827932 AAG - DEL ATP11C ENST00000327569 human ensembl 74_37 -1 known in_frame_del c.2924_2922 p.F975in_frame_del 1.000:1.000:1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 140 0 0 96 19 16.5217 ATP11C 0 genome.wustl.edu 37 X 138879450 138879453 + Frame_Shift_Del DEL ATAA ATAA - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 ATAA ATAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 138879450 138879453 ATAA - DEL ATP11C ENST00000327569 human ensembl 74_37 -1 known frame_shift_del c.902_899 p.F300fs 1.000:1.000:1.000:1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 140 0 0 105 11 9.48276 SLITRK2 0 genome.wustl.edu 37 X 144904117 144904118 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 144904117 144904118 - C INS SLITRK2 ENST00000370490 human ensembl 74_37 +1 known frame_shift_ins c.174_175 p.Q60fs 1.000:1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 101 0 0 77 10 11.4943 HMGB3 0 genome.wustl.edu 37 X 150156358 150156360 + In_Frame_Del DEL GAG GAG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 150156358 150156360 GAG - DEL HMGB3 ENST00000325307 human ensembl 74_37 +1 known in_frame_del c.574_576 p.E195in_frame_del 0.987:0.994:0.985 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors HMGB3 HGNC ENSG00000029993 88 0 0 57 11 16.1765 PNMA3 0 genome.wustl.edu 37 X 152225444 152225444 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 152225444 152225444 G - DEL PNMA3 ENST00000370264 human ensembl 74_37 +1 known frame_shift_del c.32 p.E13fs 0.002 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors PNMA3 HGNC ENSG00000183837 115 0 0 105 6 5.40541 SRPK3 0 genome.wustl.edu 37 X 153050278 153050279 + Frame_Shift_Ins INS - - C TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 153050278 153050279 - C INS SRPK3 ENST00000370101 human ensembl 74_37 +1 known frame_shift_ins c.1322_1323 p.A444fs 1.000:0.993 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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,pfscan_Prot_kinase_dom - no_errors SRPK3 HGNC ENSG00000184343 74 0 0 79 5 5.95238 ASMTL 0 genome.wustl.edu 37 X 1554640 1554640 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 1554640 1554640 C - DEL ASMTL ENST00000381317 human ensembl 74_37 -1 known frame_shift_del c.285 p.L96fs 0.822 pfam_Maf,tigrfam_Maf pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 55 0 0 53 5 8.62069 TXLNG 0 genome.wustl.edu 37 X 16847845 16847845 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 16847845 16847845 G - DEL TXLNG ENST00000380122 human ensembl 74_37 +1 known frame_shift_del c.816 p.E274fs 1.000 pfam_Taxilin_fam pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 67 0 0 43 13 23.2143 SCML2 0 genome.wustl.edu 37 X 18323102 18323103 + Frame_Shift_Ins INS - - G TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 18323102 18323103 - G INS SCML2 ENST00000251900 human ensembl 74_37 -1 known frame_shift_ins c.720_719 p.G241fs 1.000:1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 353 1 0.282486 256 60 18.9873 ARSF 0 genome.wustl.edu 37 X 3019162 3019162 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 3019162 3019162 A - DEL ARSF ENST00000359361 human ensembl 74_37 +1 known frame_shift_del c.1002 p.R335fs 0.023 pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSF HGNC ENSG00000062096 157 0 0 108 9 7.69231 PPP2R3B 0 genome.wustl.edu 37 X 302052 302052 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 302052 302052 T - DEL PPP2R3B ENST00000390665 human ensembl 74_37 -1 known frame_shift_del c.1165 p.T389fs 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 255 0 0 205 20 8.88889 CCNB3 0 genome.wustl.edu 37 X 50055623 50055624 + Frame_Shift_Del DEL AG AG - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 50055623 50055624 AG - DEL CCNB3 ENST00000276014 human ensembl 74_37 +1 known frame_shift_del c.3414_3415 p.E1141fs 0.922:0.928 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 193 0 0 137 17 11.039 TSPYL2 0 genome.wustl.edu 37 X 53112185 53112187 + In_Frame_Del DEL ATC ATC - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53112185 53112187 ATC - DEL TSPYL2 ENST00000375442 human ensembl 74_37 +1 known in_frame_del c.505_507 p.I171in_frame_del 0.001:0.004:0.009 NULL pfam_NAP_family - no_errors TSPYL2 HGNC ENSG00000184205 23 0 0 34 7 17.0732 IQSEC2 0 genome.wustl.edu 37 X 53285127 53285127 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 53285127 53285127 G - DEL IQSEC2 ENST00000396435 human ensembl 74_37 -1 known frame_shift_del c.854 p.P285fs 0.989 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 15 0 0 12 6 33.3333 TSR2 0 genome.wustl.edu 37 X 54467179 54467179 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54467179 54467179 G - DEL TSR2 ENST00000375151 human ensembl 74_37 +1 known frame_shift_del c.138 p.G48fs 0.998 pfam_Pre-rRNA_process_TSR2 pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC ENSG00000158526 66 0 0 51 5 8.92857 PFKFB1 0 genome.wustl.edu 37 X 54989787 54989787 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 54989787 54989787 G - DEL PFKFB1 ENST00000375006 human ensembl 74_37 -1 known frame_shift_del c.126 p.T43fs 0.978 pfam_6Phosfructo_kin,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB1 HGNC ENSG00000158571 135 0 0 118 14 10.6061 FAM104B 0 genome.wustl.edu 37 X 55172630 55172630 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 55172630 55172630 G - DEL FAM104B ENST00000332132 human ensembl 74_37 -1 known frame_shift_del c.238 p.Q80fs 0.014 NULL NULL - no_errors FAM104B HGNC ENSG00000182518 207 0 0 152 11 6.74847 YIPF6 0 genome.wustl.edu 37 X 67738621 67738621 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 67738621 67738621 G - DEL YIPF6 ENST00000462683 human ensembl 74_37 +1 known frame_shift_del c.275 p.G93fs 1.000 pfam_Yip1 pfam_Yip1 - no_errors YIPF6 HGNC ENSG00000181704 305 0 0 238 17 6.66667 TEX11 0 genome.wustl.edu 37 X 70127618 70127618 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 70127618 70127618 A - DEL TEX11 ENST00000374333 human ensembl 74_37 -1 known frame_shift_del c.22 p.S8fs 0.008 NULL pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC ENSG00000120498 114 0 0 66 10 13.1579 NHSL2 0 genome.wustl.edu 37 X 71360413 71360413 + Frame_Shift_Del DEL A A - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 71360413 71360413 A - DEL NHSL2 ENST00000540800 human ensembl 74_37 +1 known frame_shift_del c.3015 p.K1007fs 0.966 NULL NULL - no_errors NHSL2 HGNC ENSG00000204131 69 0 0 65 8 10.9589 ATRX 0 genome.wustl.edu 37 X 76939626 76939627 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 76939626 76939627 - A INS ATRX ENST00000373344 human ensembl 74_37 -1 known frame_shift_ins c.1122_1121 p.L374fs 1.000:1.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 401 0 0 275 34 11.0032 CYSLTR1 0 genome.wustl.edu 37 X 77528587 77528587 + Frame_Shift_Del DEL T T - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 77528587 77528587 T - DEL CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known frame_shift_del c.657 p.K219fs 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_CLT1_recept,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 53 0 0 35 7 16.6667 DACH2 0 genome.wustl.edu 37 X 86069719 86069720 + Frame_Shift_Ins INS - - A TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 86069719 86069720 - A INS DACH2 ENST00000373125 human ensembl 74_37 +1 known frame_shift_ins c.1566_1567 p.T524fs 1.000:1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 77 0 0 46 7 13.2075 FAM9B 0 genome.wustl.edu 37 X 9001013 9001013 + Frame_Shift_Del DEL C C - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 9001013 9001013 C - DEL FAM9B ENST00000327220 human ensembl 74_37 -1 known frame_shift_del c.15 p.K6fs 0.001 NULL pfam_Cor1/Xlr/Xmr - no_errors FAM9B HGNC ENSG00000177138 89 0 0 84 7 7.69231 PCDH19 0 genome.wustl.edu 37 X 99662505 99662505 + Frame_Shift_Del DEL G G - TCGA-BR-6452-01A-12D-1800-08 TCGA-BR-6452-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c8e961b4-e324-40a2-89f6-736ec3845bc9 0f603726-fdae-4738-9e1c-f387a61d8e84 X 99662505 99662505 G - DEL PCDH19 ENST00000373034 human ensembl 74_37 -1 known frame_shift_del c.1091 p.P364fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 81 0 0 75 8 9.63855