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 MIIP 0 genome.wustl.edu 37 1 12091805 12091805 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 1 12091805 12091805 G A SNP MIIP ENST00000436478 human ensembl 74_37 +1 known missense c.1010 p.R337Q 0.000 NULL NULL - no_errors MIIP HGNC ENSG00000116691 143 0 0 123 8 6.10687 FLG 0 genome.wustl.edu 37 1 152275780 152275780 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 1 152275780 152275780 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11582 p.S3861F 0.007 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 248 0 0 248 15 5.70342 FLG 0 genome.wustl.edu 37 1 152283700 152283700 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 1 152283700 152283700 C T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.3662 p.R1221H 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 373 0 0 352 52 12.8713 CNTN2 0 genome.wustl.edu 37 1 205039136 205039136 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 1 205039136 205039136 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known missense c.2378 p.R793H 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 54 0 0 48 3 5.88235 OBSCN 0 genome.wustl.edu 37 1 228399542 228399542 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 1 228399542 228399542 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.58 p.V20M 0.959 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 9 0 0 9 3 25 CAMK1D 0 genome.wustl.edu 37 10 12866468 12866468 + Missense_Mutation SNP G G C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 10 12866468 12866468 G C SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.838 p.A280P 0.996 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 CAMK1D HGNC ENSG00000183049 33 0 0 42 3 6.66667 MYO3A 0 genome.wustl.edu 37 10 26241113 26241113 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 10 26241113 26241113 A C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.74 p.E25A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 58 0 0 63 8 11.2676 HSD17B7P2 0 genome.wustl.edu 37 10 38654432 38654432 + RNA SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 10 38654432 38654432 A G SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 41 0 0 48 4 7.69231 ENSG00000242288 0 genome.wustl.edu 37 10 75487057 75487057 + RNA SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 10 75487057 75487057 C T SNP ENSG00000242288 ENST00000399449 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 103 0 0 109 8 6.83761 EXOSC1 0 genome.wustl.edu 37 10 99196244 99196244 + Missense_Mutation SNP G G C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 10 99196244 99196244 G C SNP EXOSC1 ENST00000370902 human ensembl 74_37 -1 known missense c.546 p.F182L 1.000 NULL pfam_EXOSC1,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1 - no_errors EXOSC1 HGNC ENSG00000171311 168 0 0 167 16 8.74317 RBM7 0 genome.wustl.edu 37 11 114273598 114273598 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 11 114273598 114273598 A G SNP RBM7 ENST00000540163 human ensembl 74_37 +1 known missense c.308 p.H103R 0.559 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM7 HGNC ENSG00000076053 150 0 0 128 16 11.1111 POU2F3 0 genome.wustl.edu 37 11 120168982 120168982 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 11 120168982 120168982 C T SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known silent c.147 p.T49 0.947 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 423 0 0 361 26 6.71835 GRIK4 0 genome.wustl.edu 37 11 120702685 120702685 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 11 120702685 120702685 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.636 p.T212 0.004 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 159 0 0 131 14 9.65517 BSX 0 genome.wustl.edu 37 11 122848366 122848366 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 11 122848366 122848366 G A SNP BSX ENST00000343035 human ensembl 74_37 -1 known silent c.693 p.H231 0.973 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 63 0 0 54 7 11.4754 HBG1 0 genome.wustl.edu 37 11 5269648 5269648 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 11 5269648 5269648 C T SNP HBG1 ENST00000330597 human ensembl 74_37 -1 known missense c.385 p.A129T 0.998 superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_b,prints_Myoglobin - no_errors HBG1 HGNC ENSG00000213934 69 0 0 56 6 9.67742 OR10A4 0 genome.wustl.edu 37 11 6898750 6898750 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 11 6898750 6898750 A G SNP OR10A4 ENST00000379829 human ensembl 74_37 +1 known missense c.872 p.Y291C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A4 HGNC ENSG00000170782 127 0 0 124 11 8.14815 CLEC12B 0 genome.wustl.edu 37 12 10163368 10163368 + Nonsense_Mutation SNP G G T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 10163368 10163368 G T SNP CLEC12B ENST00000338896 human ensembl 74_37 +1 known nonsense c.10 p.E4* 0.843 NULL pfam_C-type_lectin,pfam_Ly49,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12B HGNC ENSG00000256660 29 0 0 22 3 12 DAO 0 genome.wustl.edu 37 12 109286789 109286789 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 109286789 109286789 C T SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.484 p.R162W 0.962 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 48 0 0 32 3 8.57143 ACAD10 0 genome.wustl.edu 37 12 112140003 112140003 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 112140003 112140003 A G SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.225 p.I75M 0.002 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 64 0 0 88 12 12 ZNF605 0 genome.wustl.edu 37 12 133501996 133501996 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 133501996 133501996 G A SNP ZNF605 ENST00000360187 human ensembl 74_37 -1 known missense c.1889 p.S630L 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 ZNF605 HGNC ENSG00000196458 101 0 0 72 16 18.1818 ERBB3 0 genome.wustl.edu 37 12 56489547 56489547 + Missense_Mutation SNP T T A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 56489547 56489547 T A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.2012 p.I671N 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 81 0 0 75 19 20.2128 SDR9C7 0 genome.wustl.edu 37 12 57323335 57323335 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 57323335 57323335 C T SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known missense c.563 p.R188H 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 75 0 0 54 16 22.8571 PTPN6 0 genome.wustl.edu 37 12 7065608 7065608 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 7065608 7065608 C T SNP PTPN6 ENST00000456013 human ensembl 74_37 +1 known silent c.951 p.N317 0.538 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN6 HGNC ENSG00000111679 93 0 0 69 16 18.8235 KLHL1 0 genome.wustl.edu 37 13 70314635 70314635 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 13 70314635 70314635 T C SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known missense c.1693 p.S565G 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 79 0 0 84 10 10.6383 RALGAPA1 0 genome.wustl.edu 37 14 36143463 36143463 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 14 36143463 36143463 A C SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.3463 p.S1155A 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 54 0 0 48 4 7.69231 RIN3 0 genome.wustl.edu 37 14 93118183 93118183 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 14 93118183 93118183 G A SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known silent c.789 p.P263 0.000 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 146 0 0 96 11 10.2804 LOXL1 0 genome.wustl.edu 37 15 74239441 74239441 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 15 74239441 74239441 C T SNP LOXL1 ENST00000261921 human ensembl 74_37 +1 known silent c.1383 p.Y461 0.955 pfam_Lysyl_oxidase,prints_Lysyl_oxidase pfam_Lysyl_oxidase,prints_Lysyl_oxidase - no_errors LOXL1 HGNC ENSG00000129038 21 0 0 30 5 14.2857 ZNF710 0 genome.wustl.edu 37 15 90611201 90611201 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 15 90611201 90611201 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.832 p.V278M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 78 0 0 85 7 7.6087 E4F1 0 genome.wustl.edu 37 16 2284270 2284270 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 16 2284270 2284270 C T SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known missense c.1474 p.R492C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 55 0 0 44 4 8.33333 SULT1A2 0 genome.wustl.edu 37 16 28603796 28603796 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 16 28603796 28603796 T C SNP SULT1A2 ENST00000533150 human ensembl 74_37 -1 novel missense c.464 p.Q155R 0.000 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 26 0 0 22 6 21.4286 PAGR1 0 genome.wustl.edu 37 16 29828032 29828032 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 16 29828032 29828032 C T SNP PAGR1 ENST00000609618 human ensembl 74_37 +1 known silent c.186 p.S62 0.000 NULL NULL - no_errors PAGR1 Uniprot_gn ENSG00000263136 18 0 0 12 3 20 ST3GAL2 0 genome.wustl.edu 37 16 70428945 70428945 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 16 70428945 70428945 G A SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.473 p.S158L 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 185 0 0 182 19 9.45274 MLKL 0 genome.wustl.edu 37 16 74708873 74708873 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 16 74708873 74708873 G A SNP MLKL ENST00000308807 human ensembl 74_37 -1 known missense c.1366 p.R456W 0.072 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC ENSG00000168404 52 0 0 50 3 5.66038 PRPF8 0 genome.wustl.edu 37 17 1559814 1559814 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 17 1559814 1559814 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.5665 p.L1889F 1.000 pfam_PRP8_domainIV pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 58 0 0 52 4 7.14286 USP32P2 0 genome.wustl.edu 37 17 18420772 18420772 + RNA SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 17 18420772 18420772 G A SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors USP32P2 HGNC ENSG00000233327 61 0 0 46 4 8 KRT25 0 genome.wustl.edu 37 17 38904587 38904587 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 17 38904587 38904587 C T SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.1295 p.R432H 0.998 NULL pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 129 0 0 133 13 8.90411 KANSL1 0 genome.wustl.edu 37 17 44109659 44109659 + Nonsense_Mutation SNP G G T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 17 44109659 44109659 G T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known nonsense c.2844 p.Y948* 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 127 0 0 120 7 5.51181 KIF2B 0 genome.wustl.edu 37 17 51900906 51900906 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 17 51900906 51900906 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known missense c.512 p.R171Q 0.874 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 77 0 0 65 5 7.14286 PIK3C3 0 genome.wustl.edu 37 18 39637994 39637994 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 18 39637994 39637994 C T SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.2411 p.T804M 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 64 0 0 58 4 6.45161 KATNAL2 0 genome.wustl.edu 37 18 44579393 44579393 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 18 44579393 44579393 A G SNP KATNAL2 ENST00000245121 human ensembl 74_37 +1 known missense c.49 p.I17V 1.000 NULL pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNAL2 HGNC ENSG00000167216 180 0 0 140 10 6.66667 CXXC1 0 genome.wustl.edu 37 18 47812195 47812195 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 18 47812195 47812195 C T SNP CXXC1 ENST00000412036 human ensembl 74_37 -1 known missense c.563 p.R188Q 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors CXXC1 HGNC ENSG00000154832 89 0 0 75 5 6.25 CC2D1A 0 genome.wustl.edu 37 19 14031623 14031623 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 19 14031623 14031623 G A SNP CC2D1A ENST00000318003 human ensembl 74_37 +1 known missense c.1529 p.R510Q 0.973 smart_DM14 pfam_C2_dom,superfamily_C2_dom,smart_DM14,smart_C2_dom - no_errors CC2D1A HGNC ENSG00000132024 76 0 0 46 4 8 SLC1A6 0 genome.wustl.edu 37 19 15083565 15083565 + Missense_Mutation SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 19 15083565 15083565 A G SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.158 p.L53P 1.000 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 22 0 0 27 2 6.89655 ZNF208 0 genome.wustl.edu 37 19 22155029 22155029 + Missense_Mutation SNP T T A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 19 22155029 22155029 T A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2807 p.K936M 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 39 0 0 45 5 10 ZNF600 0 genome.wustl.edu 37 19 53269036 53269036 + Missense_Mutation SNP C C A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 19 53269036 53269036 C A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.1973 p.R658I 0.016 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 97 0 0 106 7 6.19469 NLRP4 0 genome.wustl.edu 37 19 56369635 56369635 + Silent SNP G G T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 19 56369635 56369635 G T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.876 p.T292 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 79 0 0 72 7 8.86076 MUC16 0 genome.wustl.edu 37 19 9071751 9071751 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 19 9071751 9071751 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.15695 p.K5232T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 83 0 0 78 5 6.0241 GLI2 0 genome.wustl.edu 37 2 121712927 121712927 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 2 121712927 121712927 G A SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known silent c.564 p.A188 0.110 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 46 0 0 30 4 11.7647 PLCL1 0 genome.wustl.edu 37 2 198950136 198950136 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 2 198950136 198950136 T G SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known missense c.1895 p.V632G 1.000 pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 36 0 0 35 5 12.5 APOB 0 genome.wustl.edu 37 2 21229930 21229930 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 2 21229930 21229930 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.9810 p.F3270 0.483 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 54 0 0 47 5 9.61538 HEATR5B 0 genome.wustl.edu 37 2 37289090 37289090 + Missense_Mutation SNP A A T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 2 37289090 37289090 A T SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known missense c.1688 p.M563K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 82 0 0 71 9 11.25 ANKEF1 0 genome.wustl.edu 37 20 10023849 10023849 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 20 10023849 10023849 C T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known silent c.426 p.V142 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 99 0 0 92 11 10.6796 MACROD2 0 genome.wustl.edu 37 20 15913947 15913947 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 20 15913947 15913947 A C SNP MACROD2 ENST00000310348 human ensembl 74_37 +1 known missense c.802 p.S268R 0.155 NULL pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom - no_errors MACROD2 HGNC ENSG00000172264 50 0 0 41 3 6.81818 NINL 0 genome.wustl.edu 37 20 25457205 25457205 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 20 25457205 25457205 G A SNP NINL ENST00000278886 human ensembl 74_37 -1 known missense c.2722 p.R908C 0.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NINL HGNC ENSG00000101004 41 0 0 31 5 13.8889 CDH4 0 genome.wustl.edu 37 20 60503377 60503377 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 20 60503377 60503377 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1901 p.T634M 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 129 0 0 101 14 12.1739 COL20A1 0 genome.wustl.edu 37 20 61945434 61945434 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 20 61945434 61945434 C T SNP COL20A1 ENST00000326996 human ensembl 74_37 +1 known missense c.2369 p.P790L 0.801 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL20A1 HGNC ENSG00000101203 36 0 0 27 6 18.1818 CHEK2 0 genome.wustl.edu 37 22 29121096 29121096 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 22 29121096 29121096 T C SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.590 p.N197S 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 80 0 0 58 10 14.7059 KLHDC7B 0 genome.wustl.edu 37 22 50987690 50987690 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 22 50987690 50987690 C T SNP KLHDC7B ENST00000395676 human ensembl 74_37 +1 known silent c.1095 p.S365 0.071 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7B HGNC ENSG00000130487 85 0 0 58 11 15.942 RBMS3 0 genome.wustl.edu 37 3 29938904 29938904 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 3 29938904 29938904 C T SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known missense c.826 p.R276C 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 151 0 0 150 23 13.2948 RHOA 0 genome.wustl.edu 37 3 49405969 49405969 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 3 49405969 49405969 A C SNP RHOA ENST00000418115 human ensembl 74_37 -1 known missense c.169 p.L57V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC ENSG00000067560 92 0 0 75 11 12.7907 FAT4 0 genome.wustl.edu 37 4 126412194 126412194 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 4 126412194 126412194 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.14217 p.Q4739H 0.934 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 72 0 0 76 7 8.43373 FSTL5 0 genome.wustl.edu 37 4 162307467 162307467 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 4 162307467 162307467 C T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.1976 p.G659D 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 65 0 0 53 3 5.35714 ADRA2C 0 genome.wustl.edu 37 4 3769558 3769558 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 4 3769558 3769558 C T SNP ADRA2C ENST00000330055 human ensembl 74_37 +1 known missense c.1225 p.R409C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2C HGNC ENSG00000184160 29 0 0 26 3 10.3448 TECRL 0 genome.wustl.edu 37 4 65188509 65188509 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 4 65188509 65188509 G A SNP TECRL ENST00000381210 human ensembl 74_37 -1 known silent c.333 p.G111 1.000 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 30 0 0 41 4 8.88889 APC 0 genome.wustl.edu 37 5 112174605 112174605 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 5 112174605 112174605 G A SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.3314 p.R1105Q 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 97 0 0 82 19 18.8119 DMXL1 0 genome.wustl.edu 37 5 118533559 118533559 + Nonsense_Mutation SNP T T A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 5 118533559 118533559 T A SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known nonsense c.7653 p.Y2551* 0.998 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 141 0 0 121 14 10.3704 PCDHA13 0 genome.wustl.edu 37 5 140261955 140261955 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 5 140261955 140261955 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.102 p.S34 0.884 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 139 1 0.714286 105 9 7.89474 C5orf42 0 genome.wustl.edu 37 5 37201824 37201824 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 5 37201824 37201824 G A SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.3376 p.L1126F 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 112 0 0 106 11 9.40171 RSPO3 0 genome.wustl.edu 37 6 127471624 127471624 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 6 127471624 127471624 A C SNP RSPO3 ENST00000368317 human ensembl 74_37 +1 known missense c.343 p.K115Q 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC ENSG00000146374 60 0 0 70 4 5.40541 SYNJ2 0 genome.wustl.edu 37 6 158516672 158516672 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 6 158516672 158516672 T G SNP SYNJ2 ENST00000355585 human ensembl 74_37 +1 known missense c.3767 p.F1256C 0.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 121 0 0 104 11 9.56522 WDR27 0 genome.wustl.edu 37 6 170068234 170068234 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 6 170068234 170068234 G A SNP WDR27 ENST00000448612 human ensembl 74_37 -1 known silent c.504 p.R168 0.010 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR27 HGNC ENSG00000184465 70 0 0 67 8 10.6667 EYS 0 genome.wustl.edu 37 6 66200566 66200566 + Silent SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 6 66200566 66200566 T C SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.783 p.Q261 0.002 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC ENSG00000188107 58 0 0 44 7 13.7255 EPHA7 0 genome.wustl.edu 37 6 93956675 93956675 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 6 93956675 93956675 C T SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.2561 p.R854H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 43 0 0 37 5 11.9048 DPY19L1 0 genome.wustl.edu 37 7 35051041 35051041 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 7 35051041 35051041 G A SNP DPY19L1 ENST00000310974 human ensembl 74_37 -1 known missense c.352 p.R118W 0.999 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 38 0 0 35 3 7.89474 DPY19L1 0 genome.wustl.edu 37 7 35051048 35051048 + Silent SNP A A G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 7 35051048 35051048 A G SNP DPY19L1 ENST00000310974 human ensembl 74_37 -1 known silent c.345 p.S115 1.000 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 39 0 0 38 3 7.31707 WBSCR17 0 genome.wustl.edu 37 7 70853293 70853293 + Silent SNP G G T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 7 70853293 70853293 G T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.495 p.L165 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 82 0 0 54 5 8.47458 TRPS1 0 genome.wustl.edu 37 8 116632246 116632246 + Missense_Mutation SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 8 116632246 116632246 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.79 p.S27G 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 55 0 0 39 3 7.14286 DLGAP2 0 genome.wustl.edu 37 8 1497743 1497743 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 8 1497743 1497743 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.884 p.T295M 0.999 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 13 0 0 11 3 21.4286 TM2D2 0 genome.wustl.edu 37 8 38853731 38853731 + Splice_Site SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 8 38853731 38853731 C T SNP TM2D2 ENST00000456397 human ensembl 74_37 -1 known splice_site c.227+1 e1+1 1.000 - - - no_errors TM2D2 HGNC ENSG00000169490 34 0 0 31 2 6.06061 ANK1 0 genome.wustl.edu 37 8 41577290 41577290 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 8 41577290 41577290 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.996 p.D332 0.021 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 181 0 0 138 10 6.75676 NPBWR1 0 genome.wustl.edu 37 8 53852963 53852963 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 8 53852963 53852963 G A SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.496 p.V166I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 15 0 0 19 2 9.52381 GPR21 0 genome.wustl.edu 37 9 125797424 125797424 + Silent SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 9 125797424 125797424 G A SNP GPR21 ENST00000373642 human ensembl 74_37 +1 known silent c.579 p.L193 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC ENSG00000188394 127 0 0 137 9 6.16438 SURF6 0 genome.wustl.edu 37 9 136199499 136199499 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 9 136199499 136199499 G A SNP SURF6 ENST00000372022 human ensembl 74_37 -1 known missense c.491 p.A164V 0.040 pfam_Surf6 pfam_Surf6 - no_errors SURF6 HGNC ENSG00000148296 157 0 0 132 12 8.33333 SLC34A3 0 genome.wustl.edu 37 9 140130470 140130470 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 9 140130470 140130470 C T SNP SLC34A3 ENST00000361134 human ensembl 74_37 +1 known missense c.1402 p.R468W 1.000 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A3 HGNC ENSG00000198569 126 0 0 95 5 5 SLITRK4 0 genome.wustl.edu 37 X 142717006 142717006 + Missense_Mutation SNP A A T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 142717006 142717006 A T SNP SLITRK4 ENST00000338017 human ensembl 74_37 -1 known missense c.1919 p.V640D 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 40 0 0 58 8 12.1212 GABRA3 0 genome.wustl.edu 37 X 151336800 151336800 + Missense_Mutation SNP C C A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 151336800 151336800 C A SNP GABRA3 ENST00000370314 human ensembl 74_37 -1 known missense c.1379 p.R460L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA3 HGNC ENSG00000011677 91 0 0 77 13 14.4444 GPR64 0 genome.wustl.edu 37 X 19045346 19045346 + Missense_Mutation SNP C C A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 19045346 19045346 C A SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.461 p.S154I 0.068 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 119 0 0 109 35 24.3056 USP9X 0 genome.wustl.edu 37 X 41043383 41043383 + Splice_Site SNP T T C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 41043383 41043383 T C SNP USP9X ENST00000324545 human ensembl 74_37 +1 known splice_site c.3279+2 e21+2 1.000 - - - no_errors USP9X HGNC ENSG00000124486 44 0 0 50 11 18.0328 FGD1 0 genome.wustl.edu 37 X 54472781 54472781 + Missense_Mutation SNP G G A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 54472781 54472781 G A SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known missense c.2647 p.R883W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD1 HGNC ENSG00000102302 16 0 0 14 3 17.6471 KIAA2022 0 genome.wustl.edu 37 X 73960013 73960013 + Missense_Mutation SNP T T G TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 73960013 73960013 T G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.4379 p.E1460A 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 36 0 0 29 4 12.1212 CYSLTR1 0 genome.wustl.edu 37 X 77529240 77529240 + Missense_Mutation SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 77529240 77529240 C T SNP CYSLTR1 ENST00000373304 human ensembl 74_37 -1 known missense c.4 p.D2N 0.994 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Cyst_leuk_rcpt,prints_CLT1_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors CYSLTR1 HGNC ENSG00000173198 53 0 0 48 14 22.5806 FAM46D 0 genome.wustl.edu 37 X 79698243 79698243 + Missense_Mutation SNP A A C TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 79698243 79698243 A C SNP FAM46D ENST00000308293 human ensembl 74_37 +1 known missense c.205 p.S69R 1.000 pfam_DUF1693 pfam_DUF1693 - no_errors FAM46D HGNC ENSG00000174016 52 0 0 53 17 24.2857 POU3F4 0 genome.wustl.edu 37 X 82764037 82764037 + Silent SNP C C T TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 X 82764037 82764037 C T SNP POU3F4 ENST00000373200 human ensembl 74_37 +1 known silent c.705 p.F235 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC ENSG00000196767 48 0 0 22 9 29.0323 TMBIM4 0 genome.wustl.edu 37 12 66531936 66531937 + Frame_Shift_Ins INS - - A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 12 66531936 66531937 - A INS TMBIM4 ENST00000358230 human ensembl 74_37 -1 known frame_shift_ins c.521_520 p.Y174fs 0.856:0.028 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 23 0 0 17 7 29.1667 TGFBR2 0 genome.wustl.edu 37 3 30713544 30713546 + In_Frame_Del DEL AGA AGA - TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 3 30713544 30713546 AGA - DEL TGFBR2 ENST00000359013 human ensembl 74_37 +1 known in_frame_del c.944_946 p.K316in_frame_del 1.000:1.000:1.000 pirsf_Transform_growth_fac-b_typ-2,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 114 0 0 110 6 5.17241 SLC2A9 0 genome.wustl.edu 37 4 10027510 10027510 + RNA DEL A A - TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 4 10027510 10027510 A - DEL SLC2A9 ENST00000509214 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC2A9 HGNC ENSG00000109667 35 0 0 42 4 8.69565 GRK4 0 genome.wustl.edu 37 4 3040280 3040280 + RNA DEL A A - TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 4 3040280 3040280 A - DEL GRK4 ENST00000504308 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GRK4 HGNC ENSG00000125388 20 0 0 14 4 22.2222 SRPK1 0 genome.wustl.edu 37 6 35810383 35810384 + Splice_Site INS - - A TCGA-BR-6563-01A-13D-2053-08 TCGA-BR-6563-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 0ef0d519-c910-4490-b9b0-e1e52ae95802 eaffeea4-d428-4d1a-b0bf-3760c79fd5c1 6 35810383 35810384 - A INS SRPK1 ENST00000373825 human ensembl 74_37 -1 known splice_site_ins c.1621-3_1621-2 e14-2 1.000:0.980 - - - no_errors SRPK1 HGNC ENSG00000096063 21 0 0 18 2 10