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 SYCP1 0 genome.wustl.edu 37 1 115419393 115419393 + Missense_Mutation SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 115419393 115419393 C A SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.763 p.Q255K 0.998 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 13 0 0 5 4 44.4444 ASH1L 0 genome.wustl.edu 37 1 155449512 155449512 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 155449512 155449512 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.3149 p.R1050K 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 67 0 0 52 23 30.6667 HMCN1 0 genome.wustl.edu 37 1 186083167 186083167 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 186083167 186083167 A C SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.11188 p.T3730P 0.000 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_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 138 0 0 112 34 23.2877 CRB1 0 genome.wustl.edu 37 1 197391073 197391073 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 197391073 197391073 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.2115 p.P705 0.000 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_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 30 0 0 47 6 11.3208 C1orf115 0 genome.wustl.edu 37 1 220870050 220870050 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 220870050 220870050 A T SNP C1orf115 ENST00000294889 human ensembl 74_37 +1 known missense c.406 p.S136C 0.909 NULL NULL - no_errors C1orf115 HGNC ENSG00000162817 132 0 0 98 9 8.41121 LYST 0 genome.wustl.edu 37 1 235993555 235993555 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 235993555 235993555 G C SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.163 p.L55V 1.000 NULL 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 65 0 0 63 11 14.8649 OR2L5 0 genome.wustl.edu 37 1 248185559 248185559 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 248185559 248185559 A C SNP OR2L5 ENST00000355281 human ensembl 74_37 +1 known missense c.310 p.M104L 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 OR2L5 HGNC ENSG00000197454 85 0 0 65 14 17.7215 DEPDC1 0 genome.wustl.edu 37 1 68949689 68949689 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 68949689 68949689 T A SNP DEPDC1 ENST00000456315 human ensembl 74_37 -1 known missense c.854 p.D285V 0.813 superfamily_Rho_GTPase_activation_prot pfam_DEP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC1 HGNC ENSG00000024526 86 0 0 37 40 51.9481 LPHN2 0 genome.wustl.edu 37 1 82416098 82416098 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 82416098 82416098 A T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known missense c.1424 p.K475M 1.000 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_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,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 76 0 0 24 31 56.3636 GPR157 0 genome.wustl.edu 37 1 9171478 9171478 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 9171478 9171478 C T SNP GPR157 ENST00000377411 human ensembl 74_37 -1 known missense c.454 p.V152M 1.000 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 79 0 0 17 28 62.2222 ABCC2 0 genome.wustl.edu 37 10 101577118 101577118 + Missense_Mutation SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 10 101577118 101577118 G T SNP ABCC2 ENST00000370449 human ensembl 74_37 +1 known missense c.2148 p.K716N 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 64 0 0 33 26 44.0678 HMX2 0 genome.wustl.edu 37 10 124909459 124909459 + Silent SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 10 124909459 124909459 G T SNP HMX2 ENST00000339992 human ensembl 74_37 +1 known silent c.642 p.A214 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 20 0 0 12 4 25 BMI1 0 genome.wustl.edu 37 10 22616977 22616977 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 10 22616977 22616977 G A SNP BMI1 ENST00000376663 human ensembl 74_37 +1 known missense c.415 p.D139N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors BMI1 HGNC ENSG00000168283 85 0 0 83 35 29.661 ATM 0 genome.wustl.edu 37 11 108214049 108214049 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 108214049 108214049 G A SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.8369 p.R2790K 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom 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 119 0 0 80 21 20.7921 TECTA 0 genome.wustl.edu 37 11 121038845 121038845 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 121038845 121038845 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.5669 p.R1890H 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom 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 151 1 0.657895 94 42 30.8824 OR8D1 0 genome.wustl.edu 37 11 124180557 124180557 + Missense_Mutation SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 124180557 124180557 C A SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.106 p.V36L 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 187 0 0 146 15 9.31677 MS4A14 0 genome.wustl.edu 37 11 60183029 60183029 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 60183029 60183029 T C SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known silent c.588 p.N196 0.000 pfam_CD20-like pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 87 0 0 53 4 7.01754 SF1 0 genome.wustl.edu 37 11 64536711 64536711 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 64536711 64536711 G A SNP SF1 ENST00000377390 human ensembl 74_37 -1 known missense c.763 p.R255W 0.989 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 68 0 0 28 23 45.098 YIF1A 0 genome.wustl.edu 37 11 66055143 66055143 + Missense_Mutation SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 66055143 66055143 C A SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known missense c.353 p.W118L 1.000 pfam_Hrf1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 31 0 0 61 8 11.5942 PELI3 0 genome.wustl.edu 37 11 66240870 66240870 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 66240870 66240870 C T SNP PELI3 ENST00000320740 human ensembl 74_37 +1 known silent c.615 p.A205 0.127 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI3 HGNC ENSG00000174516 54 0 0 87 6 6.45161 RBMXL2 0 genome.wustl.edu 37 11 7111074 7111074 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 7111074 7111074 C T SNP RBMXL2 ENST00000306904 human ensembl 74_37 +1 known silent c.723 p.R241 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL2 HGNC ENSG00000170748 38 0 0 41 3 6.81818 TENM4 0 genome.wustl.edu 37 11 78467865 78467865 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 78467865 78467865 T G SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.2741 p.N914T 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 33 0 0 23 5 17.8571 AP2A2 0 genome.wustl.edu 37 11 992584 992584 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 11 992584 992584 A G SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1354 p.I452V 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 41 0 0 40 6 13.0435 RASSF8 0 genome.wustl.edu 37 12 26217559 26217559 + Nonsense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 12 26217559 26217559 C T SNP RASSF8 ENST00000282884 human ensembl 74_37 +1 known nonsense c.232 p.R78* 0.985 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF8 HGNC ENSG00000123094 147 0 0 91 39 30 ADAMTS20 0 genome.wustl.edu 37 12 43925975 43925975 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 12 43925975 43925975 G A SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known silent c.477 p.N159 1.000 pfam_Peptidase_M12B_N 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 94 0 0 56 3 5.08475 ANP32D 0 genome.wustl.edu 37 12 48866792 48866792 + Silent SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 12 48866792 48866792 C A SNP ANP32D ENST00000266594 human ensembl 74_37 +1 known silent c.345 p.L115 0.998 NULL NULL - no_errors ANP32D HGNC ENSG00000139223 60 0 0 18 4 18.1818 KRT73 0 genome.wustl.edu 37 12 53005086 53005086 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 12 53005086 53005086 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1012 p.R338W 0.184 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 65 0 0 68 4 5.55556 ENSG00000257434 0 genome.wustl.edu 37 12 75436057 75436057 + RNA SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 12 75436057 75436057 T C SNP ENSG00000257434 ENST00000547040 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-81K13.1 Clone_based_vega_gene ENSG00000257434 48 0 0 34 9 20.9302 PPFIA2 0 genome.wustl.edu 37 12 81660768 81660768 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 12 81660768 81660768 T G SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.3518 p.N1173T 1.000 superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 25 0 0 16 4 20 SKA3 0 genome.wustl.edu 37 13 21750538 21750538 + Nonsense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 13 21750538 21750538 G A SNP SKA3 ENST00000314759 human ensembl 74_37 -1 known nonsense c.79 p.R27* 1.000 NULL NULL - no_errors SKA3 HGNC ENSG00000165480 12 0 0 8 3 27.2727 MAB21L1 0 genome.wustl.edu 37 13 36049983 36049983 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 13 36049983 36049983 G A SNP MAB21L1 ENST00000379919 human ensembl 74_37 -1 known missense c.293 p.A98V 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 114 0 0 98 22 18.3333 CCNA1 0 genome.wustl.edu 37 13 37014131 37014131 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 13 37014131 37014131 A G SNP CCNA1 ENST00000255465 human ensembl 74_37 +1 known missense c.909 p.I303M 0.963 pfam_Cyclin_N,superfamily_Cyclin-like,smart_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 CCNA1 HGNC ENSG00000133101 49 0 0 26 12 31.5789 STOML3 0 genome.wustl.edu 37 13 39542650 39542650 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 13 39542650 39542650 C T SNP STOML3 ENST00000379631 human ensembl 74_37 -1 known missense c.538 p.E180K 0.980 pfam_Band_7,smart_Band_7,prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML3 HGNC ENSG00000133115 130 0 0 121 21 14.7887 MYCBP2 0 genome.wustl.edu 37 13 77642839 77642839 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 13 77642839 77642839 G C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.12032 p.A4011G 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 82 0 0 75 16 17.5824 SLITRK5 0 genome.wustl.edu 37 13 88329875 88329875 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 13 88329875 88329875 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.2232 p.P744 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 105 0 0 73 22 23.1579 MARK3 0 genome.wustl.edu 37 14 103928798 103928798 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 14 103928798 103928798 G A SNP MARK3 ENST00000429436 human ensembl 74_37 +1 known silent c.540 p.K180 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK3 HGNC ENSG00000075413 68 0 0 45 12 21.0526 AHNAK2 0 genome.wustl.edu 37 14 105413100 105413100 + Silent SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 14 105413100 105413100 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.8688 p.L2896 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 256 0 0 183 33 15.2778 JAG2 0 genome.wustl.edu 37 14 105609473 105609473 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 14 105609473 105609473 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known silent c.3276 p.S1092 0.193 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,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 28 0 0 22 2 8.33333 MYH6 0 genome.wustl.edu 37 14 23856775 23856775 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 14 23856775 23856775 T C SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.4613 p.E1538G 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 MYH6 HGNC ENSG00000197616 77 0 0 87 20 18.6916 FOXG1 0 genome.wustl.edu 37 14 29237173 29237173 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 14 29237173 29237173 C G SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.688 p.R230G 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 FOXG1 HGNC ENSG00000176165 62 0 0 54 19 26.0274 EIF2B2 0 genome.wustl.edu 37 14 75473366 75473366 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 14 75473366 75473366 C G SNP EIF2B2 ENST00000266126 human ensembl 74_37 +1 known missense c.780 p.H260Q 1.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B2 HGNC ENSG00000119718 349 0 0 247 79 24.2331 MKRN3 0 genome.wustl.edu 37 15 23811829 23811829 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 23811829 23811829 G A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known silent c.900 p.S300 0.366 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 39 0 0 27 3 10 CHRNA7 0 genome.wustl.edu 37 15 32460293 32460293 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 32460293 32460293 C T SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known silent c.1230 p.N410 0.569 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 31 0 0 17 3 15 FMN1 0 genome.wustl.edu 37 15 33261313 33261313 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 33261313 33261313 A C SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known missense c.1920 p.N640K 0.061 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 30 0 0 16 4 20 TGM5 0 genome.wustl.edu 37 15 43552469 43552469 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 43552469 43552469 T A SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known missense c.217 p.T73S 1.000 pfam_Transglutaminase_N,superfamily_Ig_E-set pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM5 HGNC ENSG00000104055 40 0 0 26 7 21.2121 DUOX1 0 genome.wustl.edu 37 15 45428734 45428734 + Silent SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 45428734 45428734 G T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known silent c.933 p.R311 0.152 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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 121 0 0 66 22 25 DUOX1 0 genome.wustl.edu 37 15 45428735 45428735 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 45428735 45428735 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.934 p.P312S 0.162 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal 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 121 0 0 66 21 24.1379 MAN2C1 0 genome.wustl.edu 37 15 75648552 75648552 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 75648552 75648552 G A SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known silent c.2895 p.S965 0.000 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 24 0 0 31 2 6.06061 AKAP13 0 genome.wustl.edu 37 15 86225415 86225415 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 86225415 86225415 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.5140 p.H1714Y 1.000 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 48 0 0 58 13 18.3099 WDR93 0 genome.wustl.edu 37 15 90281389 90281389 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 15 90281389 90281389 C T SNP WDR93 ENST00000268130 human ensembl 74_37 +1 known missense c.1883 p.P628L 0.005 NULL superfamily_WD40_repeat_dom - no_errors WDR93 HGNC ENSG00000140527 298 0 0 326 59 15.3247 PRM1 0 genome.wustl.edu 37 16 11375074 11375074 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 11375074 11375074 G A SNP PRM1 ENST00000312511 human ensembl 74_37 -1 known missense c.22 p.R8C 1.000 pfam_Protamine_P1 pfam_Protamine_P1 - no_errors PRM1 HGNC ENSG00000175646 116 0 0 62 24 27.907 PDZD9 0 genome.wustl.edu 37 16 21999999 21999999 + Nonsense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 21999999 21999999 G A SNP PDZD9 ENST00000424898 human ensembl 74_37 -1 known nonsense c.325 p.R109* 0.981 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC ENSG00000155714 74 0 0 33 13 28.2609 OR2C1 0 genome.wustl.edu 37 16 3406257 3406257 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 3406257 3406257 G C SNP OR2C1 ENST00000304936 human ensembl 74_37 +1 known missense c.317 p.W106S 0.989 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 OR2C1 HGNC ENSG00000168158 39 0 0 33 4 10.8108 TRAP1 0 genome.wustl.edu 37 16 3714317 3714317 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 3714317 3714317 C T SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known silent c.1527 p.E509 0.998 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam 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 TRAP1 HGNC ENSG00000126602 16 0 0 16 3 15.7895 CDH11 0 genome.wustl.edu 37 16 64981997 64981997 + Missense_Mutation SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 64981997 64981997 C A SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1900 p.V634L 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 51 0 0 35 7 16.6667 TANGO6 0 genome.wustl.edu 37 16 68893968 68893968 + Missense_Mutation SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 68893968 68893968 G T SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.276 p.W92C 1.000 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 106 1 0.934579 57 27 32.1429 CNTNAP4 0 genome.wustl.edu 37 16 76555129 76555129 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 76555129 76555129 T C SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.2455 p.F819L 1.000 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 CNTNAP4 HGNC ENSG00000152910 148 1 0.671141 92 36 28.125 ADAMTS18 0 genome.wustl.edu 37 16 77327122 77327122 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 77327122 77327122 G A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known missense c.3040 p.R1014C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 114 1 0.869565 79 11 12.2222 MYH13 0 genome.wustl.edu 37 17 10233733 10233733 + Silent SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 10233733 10233733 C G SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known silent c.2406 p.R802 0.925 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS 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 36 0 0 19 5 20.8333 MYH1 0 genome.wustl.edu 37 17 10404711 10404711 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 10404711 10404711 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.3454 p.E1152K 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 154 0 0 108 16 12.9032 MAP2K3 0 genome.wustl.edu 37 17 21202209 21202209 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 21202209 21202209 T C SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.136 p.S46P 1.000 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 MAP2K3 HGNC ENSG00000034152 90 0 0 74 4 5.12821 KRTAP9-3 0 genome.wustl.edu 37 17 39388969 39388969 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 39388969 39388969 G C SNP KRTAP9-3 ENST00000411528 human ensembl 74_37 +1 known missense c.216 p.Q72H 0.001 NULL NULL - no_errors KRTAP9-3 HGNC ENSG00000204873 93 0 0 86 45 34.3511 EFTUD2 0 genome.wustl.edu 37 17 42929086 42929086 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 42929086 42929086 G A SNP EFTUD2 ENST00000426333 human ensembl 74_37 -1 known missense c.2815 p.R939C 0.996 NULL 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 19 0 0 4 11 73.3333 ABCC3 0 genome.wustl.edu 37 17 48761441 48761441 + Silent SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 48761441 48761441 G T SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known silent c.4086 p.L1362 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 36 0 0 33 2 5.71429 TEX14 0 genome.wustl.edu 37 17 56651574 56651574 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 56651574 56651574 T C SNP TEX14 ENST00000240361 human ensembl 74_37 -1 known silent c.3495 p.S1165 0.068 NULL 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 73 0 0 34 15 30.6122 ENGASE 0 genome.wustl.edu 37 17 77082221 77082221 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 77082221 77082221 G A SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known silent c.2022 p.P674 0.000 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 105 0 0 95 22 18.8034 CCDC42 0 genome.wustl.edu 37 17 8647423 8647423 + Missense_Mutation SNP G G T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 17 8647423 8647423 G T SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.163 p.H55N 0.994 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 84 0 0 48 16 25 TAF4B 0 genome.wustl.edu 37 18 23866069 23866069 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 18 23866069 23866069 T G SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.1196 p.L399R 0.090 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 112 0 0 68 7 9.33333 THOC1 0 genome.wustl.edu 37 18 260237 260237 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 18 260237 260237 C T SNP THOC1 ENST00000581269 human ensembl 74_37 -1 known missense c.257 p.S86N 0.771 NULL NULL - no_errors THOC1 HGNC ENSG00000079134 14 0 0 10 2 16.6667 DSG3 0 genome.wustl.edu 37 18 29038467 29038467 + Silent SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 18 29038467 29038467 C A SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known silent c.276 p.I92 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 81 0 0 31 21 40.3846 CNDP2 0 genome.wustl.edu 37 18 72168606 72168606 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 18 72168606 72168606 C T SNP CNDP2 ENST00000324262 human ensembl 74_37 +1 known missense c.103 p.P35S 1.000 pirsf_GSH_degradosome_DUG1 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,pirsf_GSH_degradosome_DUG1 - no_errors CNDP2 HGNC ENSG00000133313 71 0 0 48 8 14.2857 PPAN-P2RY11 0 genome.wustl.edu 37 19 10224595 10224595 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 10224595 10224595 C T SNP PPAN-P2RY11 ENST00000393796 human ensembl 74_37 +1 known silent c.1566 p.C522 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM - no_errors PPAN-P2RY11 HGNC ENSG00000243207 46 0 0 32 2 5.88235 NWD1 0 genome.wustl.edu 37 19 16872810 16872810 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 16872810 16872810 G A SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.1994 p.R665H 0.000 NULL 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 38 20 34.4828 CPAMD8 0 genome.wustl.edu 37 19 17088219 17088219 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 17088219 17088219 C T SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1858 p.D620N 0.999 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 105 0 0 40 53 56.9892 FCGBP 0 genome.wustl.edu 37 19 40419757 40419757 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 40419757 40419757 A C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.3237 p.H1079Q 0.464 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 135 0 0 111 16 12.5984 PRX 0 genome.wustl.edu 37 19 40900837 40900837 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 40900837 40900837 G A SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.3422 p.A1141V 0.011 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 52 0 0 36 7 16.2791 AP2A1 0 genome.wustl.edu 37 19 50285901 50285901 + Silent SNP C C A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 50285901 50285901 C A SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known silent c.393 p.A131 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 47 0 0 23 3 11.5385 PEG3 0 genome.wustl.edu 37 19 57328018 57328018 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 57328018 57328018 G A SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.1792 p.R598C 0.012 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 51 0 0 34 8 19.0476 MED16 0 genome.wustl.edu 37 19 877092 877092 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 877092 877092 C T SNP MED16 ENST00000325464 human ensembl 74_37 -1 known missense c.1442 p.C481Y 1.000 pfam_Mediator_Med16 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 37 0 0 25 2 7.40741 MUC16 0 genome.wustl.edu 37 19 9058529 9058529 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 19 9058529 9058529 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.28917 p.D9639 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 88 0 0 59 17 22.3684 MARCO 0 genome.wustl.edu 37 2 119735081 119735081 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 119735081 119735081 A C SNP MARCO ENST00000327097 human ensembl 74_37 +1 known missense c.648 p.Q216H 0.890 NULL pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors MARCO HGNC ENSG00000019169 71 0 0 79 5 5.95238 TPO 0 genome.wustl.edu 37 2 1426885 1426885 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 1426885 1426885 T C SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.163 p.Y55H 0.002 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 46 0 0 15 22 59.4595 TANC1 0 genome.wustl.edu 37 2 160020039 160020039 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 160020039 160020039 C G SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.928 p.R310G 1.000 NULL 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 51 0 0 55 4 6.77966 TTN 0 genome.wustl.edu 37 2 179398445 179398445 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 179398445 179398445 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.95193 p.K31731 0.986 pfam_Ig_I-set,superfamily_Kinase-like_dom,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 45 0 0 46 3 6.12245 TTN 0 genome.wustl.edu 37 2 179600768 179600768 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 179600768 179600768 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10673 p.K3558T 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 79 0 0 38 50 56.8182 TTN 0 genome.wustl.edu 37 2 179658255 179658255 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 179658255 179658255 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.1412 p.A471V 1.000 pfam_Titin_Z,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 45 0 0 47 13 21.6667 SESTD1 0 genome.wustl.edu 37 2 180047841 180047841 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 180047841 180047841 T G SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.130 p.S44R 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 85 0 0 76 7 8.43373 MAP2 0 genome.wustl.edu 37 2 210559425 210559425 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 210559425 210559425 G A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2531 p.R844H 0.009 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 156 0 0 114 25 17.9856 MAP2 0 genome.wustl.edu 37 2 210560109 210560109 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 210560109 210560109 T G SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.3215 p.L1072R 0.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 112 0 0 65 56 46.281 ABCA12 0 genome.wustl.edu 37 2 215802240 215802240 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 215802240 215802240 G A SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.7536 p.Y2512 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 69 0 0 33 29 46.7742 OTOF 0 genome.wustl.edu 37 2 26697430 26697430 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 26697430 26697430 C T SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.3239 p.R1080H 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 37 0 0 14 23 62.1622 NRXN1 0 genome.wustl.edu 37 2 50573836 50573836 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 50573836 50573836 G A SNP NRXN1 ENST00000342183 human ensembl 74_37 -1 known silent c.252 p.G84 0.986 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 98 0 0 88 5 5.37634 VPS54 0 genome.wustl.edu 37 2 64211037 64211037 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 64211037 64211037 C G SNP VPS54 ENST00000272322 human ensembl 74_37 -1 known missense c.97 p.V33L 1.000 NULL pfam_Vps54,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS54 HGNC ENSG00000143952 165 0 0 122 54 30.6818 SPRED2 0 genome.wustl.edu 37 2 65571938 65571938 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 65571938 65571938 C T SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known missense c.119 p.R40H 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 52 0 0 49 5 9.25926 DYSF 0 genome.wustl.edu 37 2 71795434 71795434 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 71795434 71795434 T C SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.2869 p.W957R 1.000 smart_Peroxin/Ferlin 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 539 0 0 423 132 23.7838 SEMA4C 0 genome.wustl.edu 37 2 97530998 97530998 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 97530998 97530998 G A SNP SEMA4C ENST00000305476 human ensembl 74_37 -1 known missense c.577 p.R193C 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,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4C HGNC ENSG00000168758 65 0 0 45 6 11.7647 INPP4A 0 genome.wustl.edu 37 2 99204053 99204053 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 2 99204053 99204053 C T SNP INPP4A ENST00000074304 human ensembl 74_37 +1 known silent c.2916 p.Y972 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 73 0 0 77 10 11.4943 RRBP1 0 genome.wustl.edu 37 20 17601012 17601012 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 20 17601012 17601012 G A SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.3511 p.R1171W 0.096 NULL pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 97 0 0 116 23 16.5468 TGM6 0 genome.wustl.edu 37 20 2397900 2397900 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 20 2397900 2397900 G A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.1359 p.V453 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 18 0 0 30 2 6.25 SLC4A11 0 genome.wustl.edu 37 20 3210393 3210393 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 20 3210393 3210393 A C SNP SLC4A11 ENST00000380059 human ensembl 74_37 -1 known missense c.1648 p.L550V 0.000 pfam_HCO3_transpt_C pfam_HCO3_transpt_C,pfam_PTS_EIIA_type-2_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 89 0 0 126 7 5.26316 EIF2S2 0 genome.wustl.edu 37 20 32677677 32677677 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 20 32677677 32677677 C T SNP EIF2S2 ENST00000374980 human ensembl 74_37 -1 known silent c.861 p.P287 0.015 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 pfam_Transl_init_fac_IF2/IF5,superfamily_Transl_init_fac_IF2/IF5_N,superfamily_Transl_init_fac_IF2/IF5_Zn-bd,smart_Transl_init_fac_IF2/IF5 - no_errors EIF2S2 HGNC ENSG00000125977 126 0 0 130 36 21.6867 ITCH 0 genome.wustl.edu 37 20 33068998 33068998 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 20 33068998 33068998 G A SNP ITCH ENST00000262650 human ensembl 74_37 +1 known missense c.2203 p.E735K 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 93 0 0 97 18 15.6522 RTFDC1 0 genome.wustl.edu 37 20 55059238 55059238 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 20 55059238 55059238 G A SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known missense c.560 p.C187Y 1.000 pfam_Rtf2_RING-finger pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 122 0 0 101 47 31.7568 BMP7 0 genome.wustl.edu 37 20 55746147 55746147 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 20 55746147 55746147 C T SNP BMP7 ENST00000395863 human ensembl 74_37 -1 known silent c.1164 p.P388 0.525 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP7 HGNC ENSG00000101144 55 0 0 83 16 16.1616 TPTE 0 genome.wustl.edu 37 21 10971337 10971337 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 21 10971337 10971337 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.20 p.P7L 0.000 NULL 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 101 0 0 54 7 11.4754 TIAM1 0 genome.wustl.edu 37 21 32598232 32598232 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 21 32598232 32598232 G A SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1619 p.T540I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,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 TIAM1 HGNC ENSG00000156299 50 0 0 25 2 7.40741 PDE9A 0 genome.wustl.edu 37 21 44179168 44179168 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 21 44179168 44179168 C G SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.870 p.I290M 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 70 0 0 36 15 29.4118 ISX 0 genome.wustl.edu 37 22 35481614 35481614 + Silent SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 22 35481614 35481614 T G SNP ISX ENST00000308700 human ensembl 74_37 +1 known silent c.666 p.T222 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ISX HGNC ENSG00000175329 187 0 0 106 36 25.3521 SEPT3 0 genome.wustl.edu 37 22 42383244 42383244 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 22 42383244 42383244 C T SNP SEPT3 ENST00000396426 human ensembl 74_37 +1 known silent c.366 p.T122 0.004 pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC ENSG00000100167 63 0 0 47 16 25.3968 SCUBE1 0 genome.wustl.edu 37 22 43610151 43610151 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 22 43610151 43610151 G A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known silent c.1998 p.C666 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt_N_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_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 SCUBE1 HGNC ENSG00000159307 82 0 0 38 10 20.8333 GHRL 0 genome.wustl.edu 37 3 10331490 10331490 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 10331490 10331490 C T SNP GHRL ENST00000335542 human ensembl 74_37 -1 known missense c.181 p.D61N 0.053 pfam_Motilin_assoc pfam_Motilin_assoc,pfam_Motilin_ghrelin,prints_Preproghrelin - no_errors GHRL HGNC ENSG00000157017 303 0 0 185 64 25.7028 ADCY5 0 genome.wustl.edu 37 3 123166565 123166565 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 123166565 123166565 G A SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known silent c.828 p.A276 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 29 0 0 17 5 22.7273 ANKRD28 0 genome.wustl.edu 37 3 15736313 15736313 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 15736313 15736313 T A SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known missense c.1703 p.E568V 1.000 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 86 0 0 27 39 59.0909 SMC4 0 genome.wustl.edu 37 3 160137276 160137276 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 160137276 160137276 A G SNP SMC4 ENST00000344722 human ensembl 74_37 +1 known missense c.1802 p.D601G 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,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 88 0 0 57 22 27.8481 GP5 0 genome.wustl.edu 37 3 194118890 194118890 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 194118890 194118890 G A SNP GP5 ENST00000323007 human ensembl 74_37 -1 known missense c.122 p.A41V 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 54 0 0 36 8 18.1818 ZNF662 0 genome.wustl.edu 37 3 42956441 42956441 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 42956441 42956441 G A SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known silent c.954 p.T318 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 ZNF662 HGNC ENSG00000182983 76 0 0 48 17 26.1538 QRICH1 0 genome.wustl.edu 37 3 49094328 49094328 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 49094328 49094328 C T SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known silent c.1305 p.Q435 0.956 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 83 0 0 53 3 5.35714 FAM19A4 0 genome.wustl.edu 37 3 68802041 68802041 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 68802041 68802041 T G SNP FAM19A4 ENST00000295569 human ensembl 74_37 -1 known missense c.259 p.T87P 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A4 HGNC ENSG00000163377 131 0 0 67 17 20.2381 OR5H1 0 genome.wustl.edu 37 3 97851635 97851635 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 3 97851635 97851635 T C SNP OR5H1 ENST00000354565 human ensembl 74_37 +1 known silent c.94 p.L32 0.785 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 93 0 0 37 15 28.8462 CTSO 0 genome.wustl.edu 37 4 156863522 156863522 + Silent SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 156863522 156863522 T G SNP CTSO ENST00000433477 human ensembl 74_37 -1 known silent c.331 p.R111 0.989 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 116 0 0 61 64 51.2 TLL1 0 genome.wustl.edu 37 4 166929130 166929130 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 166929130 166929130 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.847 p.E283K 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 92 0 0 35 78 69.0265 DDX60L 0 genome.wustl.edu 37 4 169362498 169362498 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 169362498 169362498 C T SNP DDX60L ENST00000260184 human ensembl 74_37 -1 known silent c.1284 p.S428 0.001 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 68 0 0 76 6 7.31707 NSG1 0 genome.wustl.edu 37 4 4419002 4419002 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 4419002 4419002 C T SNP NSG1 ENST00000397958 human ensembl 74_37 +1 known missense c.398 p.A133V 0.880 pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp pfam_Calcyon_neuron-sp,pirsf_Calcyon_neuron-sp - no_errors NSG1 Uniprot_gn ENSG00000168824 120 0 0 63 28 30.7692 KCTD8 0 genome.wustl.edu 37 4 44449752 44449752 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 44449752 44449752 C G SNP KCTD8 ENST00000360029 human ensembl 74_37 -1 known missense c.789 p.E263D 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD8 HGNC ENSG00000183783 36 0 0 37 3 7.5 EVC2 0 genome.wustl.edu 37 4 5624326 5624326 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 5624326 5624326 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known silent c.2439 p.D813 0.001 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 59 0 0 33 6 15.3846 EXOC1 0 genome.wustl.edu 37 4 56765938 56765938 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 56765938 56765938 G A SNP EXOC1 ENST00000346134 human ensembl 74_37 +1 known missense c.2225 p.R742Q 1.000 pfam_Exocyst_Exoc1/SEC3 pfam_Exocyst_Exoc1/SEC3 - no_errors EXOC1 HGNC ENSG00000090989 79 0 0 53 11 17.1875 GNRHR 0 genome.wustl.edu 37 4 68619666 68619666 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 4 68619666 68619666 A G SNP GNRHR ENST00000226413 human ensembl 74_37 -1 known missense c.388 p.F130L 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 63 0 0 20 65 76.4706 DNAH5 0 genome.wustl.edu 37 5 13771038 13771038 + Missense_Mutation SNP T T G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 5 13771038 13771038 T G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.9425 p.K3142T 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 DNAH5 HGNC ENSG00000039139 64 0 0 54 8 12.9032 SIL1 0 genome.wustl.edu 37 5 138456726 138456726 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 5 138456726 138456726 G A SNP SIL1 ENST00000265195 human ensembl 74_37 -1 known missense c.242 p.P81L 1.000 NULL superfamily_ARM-type_fold - no_errors SIL1 HGNC ENSG00000120725 85 0 0 48 11 18.6441 PCDHB13 0 genome.wustl.edu 37 5 140594778 140594778 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 5 140594778 140594778 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.1083 p.A361 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 280 0 0 158 36 18.5567 GABRP 0 genome.wustl.edu 37 5 170239126 170239126 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 5 170239126 170239126 G A SNP GABRP ENST00000265294 human ensembl 74_37 +1 known missense c.1187 p.R396Q 1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAAp_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_GABAAp_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRP HGNC ENSG00000094755 75 0 0 49 6 10.9091 PRDM9 0 genome.wustl.edu 37 5 23510114 23510114 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 5 23510114 23510114 A C SNP PRDM9 ENST00000296682 human ensembl 74_37 +1 known missense c.279 p.E93D 1.000 pfscan_Krueppel-associated_box 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 60 0 0 33 4 10.8108 RICTOR 0 genome.wustl.edu 37 5 38950621 38950621 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 5 38950621 38950621 C T SNP RICTOR ENST00000296782 human ensembl 74_37 -1 known missense c.3329 p.R1110H 1.000 NULL superfamily_ARM-type_fold - no_errors RICTOR HGNC ENSG00000164327 152 0 0 140 10 6.66667 TTC37 0 genome.wustl.edu 37 5 94850562 94850562 + Silent SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 5 94850562 94850562 T C SNP TTC37 ENST00000358746 human ensembl 74_37 -1 known silent c.2700 p.G900 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC37 HGNC ENSG00000198677 47 0 0 37 2 5.12821 LAMA2 0 genome.wustl.edu 37 6 129634198 129634198 + Nonsense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 129634198 129634198 A T SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known nonsense c.3367 p.K1123* 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin 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 105 0 0 86 11 11.3402 RAET1E 0 genome.wustl.edu 37 6 150210686 150210686 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 150210686 150210686 G A SNP RAET1E ENST00000392270 human ensembl 74_37 -1 known missense c.314 p.S105L 0.002 NULL superfamily_MHC_I/II-like_Ag-recog - no_errors RAET1E HGNC ENSG00000164520 98 0 0 62 149 70.6161 SCAND3 0 genome.wustl.edu 37 6 28539970 28539970 + Silent SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 28539970 28539970 G C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known silent c.3696 p.T1232 0.997 superfamily_RNaseH-like_dom 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 52 0 0 35 14 28.5714 SCAND3 0 genome.wustl.edu 37 6 28540574 28540574 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 28540574 28540574 G C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.3092 p.S1031C 0.992 superfamily_RNaseH-like_dom 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 53 0 0 33 11 25 OR5V1 0 genome.wustl.edu 37 6 29323795 29323795 + Missense_Mutation SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 29323795 29323795 A G SNP OR5V1 ENST00000377154 human ensembl 74_37 -1 known missense c.178 p.Y60H 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 OR5V1 HGNC ENSG00000243729 148 0 0 133 37 21.7647 PACSIN1 0 genome.wustl.edu 37 6 34499470 34499470 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 34499470 34499470 C T SNP PACSIN1 ENST00000244458 human ensembl 74_37 +1 known silent c.1131 p.G377 0.976 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 PACSIN1 HGNC ENSG00000124507 215 0 0 104 83 44.385 USP49 0 genome.wustl.edu 37 6 41773985 41773985 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 41773985 41773985 G A SNP USP49 ENST00000373009 human ensembl 74_37 -1 known missense c.737 p.P246L 0.967 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP49 HGNC ENSG00000164663 54 0 0 49 7 12.5 AARS2 0 genome.wustl.edu 37 6 44268376 44268376 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 44268376 44268376 C T SNP AARS2 ENST00000244571 human ensembl 74_37 -1 known missense c.2866 p.G956S 1.000 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 104 0 0 75 19 20.2128 SYNCRIP 0 genome.wustl.edu 37 6 86346762 86346762 + Missense_Mutation SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 86346762 86346762 G A SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.589 p.P197S 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 79 0 0 84 20 19.2308 POU3F2 0 genome.wustl.edu 37 6 99284012 99284012 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 99284012 99284012 C T SNP POU3F2 ENST00000328345 human ensembl 74_37 +1 known silent c.1263 p.G421 1.000 pirsf_Transcription_factor_POU,superfamily_Homeodomain-like pirsf_Transcription_factor_POU,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 POU3F2 HGNC ENSG00000184486 78 0 0 89 6 6.31579 DPY19L2P2 0 genome.wustl.edu 37 7 102883486 102883486 + RNA SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 7 102883486 102883486 C G SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 20 0 0 17 2 10.5263 DPY19L2P2 0 genome.wustl.edu 37 7 102883490 102883490 + RNA SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 7 102883490 102883490 A C SNP DPY19L2P2 ENST00000312132 human ensembl 74_37 -1 known rna NULL NULL 0.959 - - - no_errors DPY19L2P2 HGNC ENSG00000170629 17 0 0 12 2 14.2857 DOCK4 0 genome.wustl.edu 37 7 111509683 111509683 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 7 111509683 111509683 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known missense c.2056 p.V686M 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 63 0 0 18 26 59.0909 BBS9 0 genome.wustl.edu 37 7 33397540 33397540 + Missense_Mutation SNP A A T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 7 33397540 33397540 A T SNP BBS9 ENST00000242067 human ensembl 74_37 +1 known missense c.1626 p.K542N 1.000 NULL NULL - no_errors BBS9 HGNC ENSG00000122507 107 0 0 104 18 14.7541 ABCA13 0 genome.wustl.edu 37 7 48314870 48314870 + Silent SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 7 48314870 48314870 A G SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.5607 p.E1869 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 37 0 0 53 3 5.35714 SNORA15 0 genome.wustl.edu 37 7 56128294 56128294 + RNA SNP A A G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 7 56128294 56128294 A G SNP SNORA15 ENST00000384439 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors SNORA15 HGNC ENSG00000207168 21 0 0 30 2 6.25 MAGI2 0 genome.wustl.edu 37 7 77973216 77973216 + Silent SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 7 77973216 77973216 T A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.1287 p.L429 0.963 pfam_PDZ,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 MAGI2 HGNC ENSG00000187391 54 0 0 35 13 27.0833 ASAP1 0 genome.wustl.edu 37 8 131073067 131073067 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 8 131073067 131073067 G C SNP ASAP1 ENST00000357668 human ensembl 74_37 -1 known missense c.2950 p.P984A 1.000 prints_p67phox pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,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,prints_p67phox - no_errors ASAP1 HGNC ENSG00000153317 134 0 0 125 33 20.8861 SGCZ 0 genome.wustl.edu 37 8 13959935 13959935 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 8 13959935 13959935 A C SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known missense c.694 p.F232V 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 70 0 0 36 9 20 SGCZ 0 genome.wustl.edu 37 8 13965704 13965704 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 8 13965704 13965704 C T SNP SGCZ ENST00000382080 human ensembl 74_37 -1 known silent c.588 p.P196 0.934 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 61 0 0 37 8 17.7778 RPL8 0 genome.wustl.edu 37 8 146015800 146015800 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 8 146015800 146015800 C T SNP RPL8 ENST00000262584 human ensembl 74_37 -1 known silent c.555 p.A185 0.994 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 106 0 0 114 9 7.31707 FBXO16 0 genome.wustl.edu 37 8 28218664 28218664 + Silent SNP G G A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 8 28218664 28218664 G A SNP FBXO16 ENST00000521548 human ensembl 74_37 -1 known silent c.879 p.S293 0.001 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO16 HGNC ENSG00000214050 58 0 0 38 11 22.449 EIF4EBP1 0 genome.wustl.edu 37 8 37914619 37914619 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 8 37914619 37914619 C T SNP EIF4EBP1 ENST00000338825 human ensembl 74_37 +1 known missense c.166 p.R56W 1.000 pfam_EIF4EBP pfam_EIF4EBP - no_errors EIF4EBP1 HGNC ENSG00000187840 113 0 0 60 25 29.4118 AP3M2 0 genome.wustl.edu 37 8 42019858 42019858 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 8 42019858 42019858 C T SNP AP3M2 ENST00000174653 human ensembl 74_37 +1 known missense c.505 p.R169W 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_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 301 3 0.986842 177 73 29.2 GRIN3A 0 genome.wustl.edu 37 9 104449347 104449347 + Missense_Mutation SNP A A C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 9 104449347 104449347 A C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.835 p.F279V 1.000 superfamily_Peripla_BP_I 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 122 0 0 126 12 8.69565 FKBP15 0 genome.wustl.edu 37 9 115955819 115955819 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 9 115955819 115955819 G C SNP FKBP15 ENST00000238256 human ensembl 74_37 -1 known missense c.1018 p.L340V 0.996 NULL pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 10 0 0 5 7 58.3333 NUP188 0 genome.wustl.edu 37 9 131749930 131749930 + Missense_Mutation SNP C C G TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 9 131749930 131749930 C G SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.2327 p.T776R 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 69 0 0 38 30 44.1176 IFNA13 0 genome.wustl.edu 37 9 21367555 21367555 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 9 21367555 21367555 G C SNP IFNA13 ENST00000449498 human ensembl 74_37 -1 known missense c.455 p.T152S 0.000 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 IFNA13 HGNC ENSG00000233816 125 0 0 29 16 35.5556 GLDC 0 genome.wustl.edu 37 9 6610288 6610288 + Missense_Mutation SNP T T C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 9 6610288 6610288 T C SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.539 p.Q180R 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 38 0 0 15 9 37.5 MSL3 0 genome.wustl.edu 37 X 11786716 11786716 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 11786716 11786716 C T SNP MSL3 ENST00000312196 human ensembl 74_37 +1 known missense c.1196 p.S399F 1.000 pfam_MRG_dom pfam_MRG_dom,pfam_Tudor-knot,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors MSL3 HGNC ENSG00000005302 48 0 0 34 20 37.037 GPR101 0 genome.wustl.edu 37 X 136113611 136113611 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 136113611 136113611 C T SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.223 p.V75I 0.649 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_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 37 0 0 17 14 45.1613 BGN 0 genome.wustl.edu 37 X 152773819 152773819 + Silent SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 152773819 152773819 C T SNP BGN ENST00000331595 human ensembl 74_37 +1 known silent c.1023 p.P341 0.013 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 BGN HGNC ENSG00000182492 63 0 0 33 32 49.2308 KDM6A 0 genome.wustl.edu 37 X 44922785 44922785 + Missense_Mutation SNP G G C TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 44922785 44922785 G C SNP KDM6A ENST00000382899 human ensembl 74_37 +1 known missense c.1667 p.R556T 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 36 0 0 32 4 11.1111 STARD8 0 genome.wustl.edu 37 X 67941951 67941951 + Missense_Mutation SNP C C T TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 67941951 67941951 C T SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2522 p.A841V 1.000 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 28 0 0 16 6 27.2727 PJA1 0 genome.wustl.edu 37 X 68382337 68382337 + Nonsense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 68382337 68382337 T A SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known nonsense c.745 p.K249* 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 56 0 0 14 18 56.25 PJA1 0 genome.wustl.edu 37 X 68382338 68382338 + Silent SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 68382338 68382338 T A SNP PJA1 ENST00000361478 human ensembl 74_37 -1 known silent c.744 p.S248 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 57 0 0 12 18 60 CPXCR1 0 genome.wustl.edu 37 X 88009038 88009038 + Missense_Mutation SNP T T A TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d X 88009038 88009038 T A SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.623 p.L208H 0.001 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 27 0 0 10 4 28.5714 LAMC2 0 genome.wustl.edu 37 1 183206593 183206595 + In_Frame_Del DEL AAG AAG - TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 183206593 183206595 AAG - DEL LAMC2 ENST00000264144 human ensembl 74_37 +1 known in_frame_del c.2708_2710 p.E905in_frame_del 1.000:1.000:1.000 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 67 0 0 59 11 15.7143 CCDC27 0 genome.wustl.edu 37 1 3680286 3680288 + In_Frame_Del DEL ACA ACA - TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 1 3680286 3680288 ACA - DEL CCDC27 ENST00000294600 human ensembl 74_37 +1 known in_frame_del c.1338_1340 p.Q449in_frame_del 0.000:0.029:0.031 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 174 0 0 87 51 36.9565 CTCF 0 genome.wustl.edu 37 16 67645936 67645936 + Frame_Shift_Del DEL C C - TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 16 67645936 67645936 C - DEL CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_del c.864 p.H288fs 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 127 0 0 85 24 22.0183 GRM4 0 genome.wustl.edu 37 6 34026856 34026858 + In_Frame_Del DEL AGA AGA - TCGA-BR-7717-01A-11D-2053-08 TCGA-BR-7717-10A-01D-2053-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 67d6a830-41d5-46d2-9503-58ec158c29a7 b65a86ec-96ea-4d0e-890e-43d5645adf5d 6 34026856 34026858 AGA - DEL GRM4 ENST00000374181 human ensembl 74_37 -1 known in_frame_del c.922_920 p.F307in_frame_del 1.000:1.000:1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4 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_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 66 0 0 45 5 10