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 AGL 0 genome.wustl.edu 37 1 100382219 100382219 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 100382219 100382219 G A SNP AGL ENST00000294724 human ensembl 74_37 +1 known silent c.4413 p.P1471 0.686 pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met pfam_AGL/Gdb1,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met - no_errors AGL HGNC ENSG00000162688 57 0 0 46 38 45.2381 UBE4B 0 genome.wustl.edu 37 1 10211398 10211398 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 10211398 10211398 C T SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.2705 p.A902V 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 133 0 0 156 36 18.75 AMY2B 0 genome.wustl.edu 37 1 104112907 104112907 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 104112907 104112907 C T SNP AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AMY2B HGNC ENSG00000240038 47 0 0 59 13 18.0556 VAV3 0 genome.wustl.edu 37 1 108116784 108116784 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 108116784 108116784 C T SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known missense c.2387 p.R796Q 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 155 0 0 169 47 21.7593 GNAI3 0 genome.wustl.edu 37 1 110128869 110128869 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 110128869 110128869 C T SNP GNAI3 ENST00000369851 human ensembl 74_37 +1 known nonsense c.622 p.R208* 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI3 HGNC ENSG00000065135 229 0 0 231 68 22.7425 GSTM2 0 genome.wustl.edu 37 1 110251177 110251177 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 110251177 110251177 T C SNP GSTM2 ENST00000369831 human ensembl 74_37 +1 putative silent c.642 p.C214 0.399 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM2 HGNC ENSG00000213366 13 0 0 11 6 35.2941 MTOR 0 genome.wustl.edu 37 1 11184640 11184640 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 11184640 11184640 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.6577 p.R2193C 0.995 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 71 0 0 94 19 16.8142 MTOR 0 genome.wustl.edu 37 1 11204707 11204707 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 11204707 11204707 G A SNP MTOR ENST00000361445 human ensembl 74_37 -1 known nonsense c.4870 p.Q1624* 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 67 0 0 82 16 16.3265 MOV10 0 genome.wustl.edu 37 1 113231495 113231495 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 113231495 113231495 G A SNP MOV10 ENST00000496577 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MOV10 HGNC ENSG00000155363 37 0 0 38 11 22.449 LRIG2 0 genome.wustl.edu 37 1 113657401 113657401 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 113657401 113657401 T C SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known silent c.2433 p.I811 0.958 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 169 0 0 171 48 21.9178 SYCP1 0 genome.wustl.edu 37 1 115418692 115418692 + Missense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 115418692 115418692 A C SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.660 p.K220N 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 79 0 0 93 21 18.4211 SYCP1 0 genome.wustl.edu 37 1 115537372 115537372 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 115537372 115537372 A G SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known silent c.2757 p.P919 0.655 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 72 0 0 77 22 22.2222 MAB21L3 0 genome.wustl.edu 37 1 116663675 116663675 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 116663675 116663675 G A SNP MAB21L3 ENST00000369500 human ensembl 74_37 +1 known silent c.171 p.T57 0.000 NULL pfam_Mab-21_dom - no_errors MAB21L3 HGNC ENSG00000173212 253 0 0 244 53 17.8451 UBE2J2 0 genome.wustl.edu 37 1 1190726 1190726 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 1190726 1190726 C T SNP UBE2J2 ENST00000400930 human ensembl 74_37 -1 known missense c.685 p.V229I 0.603 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2J2 HGNC ENSG00000160087 146 0 0 141 36 20.339 NOTCH2 0 genome.wustl.edu 37 1 120458868 120458868 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 120458868 120458868 C T SNP NOTCH2 ENST00000256646 human ensembl 74_37 -1 known silent c.6477 p.T2159 0.003 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 98 0 0 121 21 14.7887 ACAP3 0 genome.wustl.edu 37 1 1233229 1233229 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 1233229 1233229 G A SNP ACAP3 ENST00000353662 human ensembl 74_37 -1 known silent c.975 p.R325 0.768 NULL pfam_ArfGAP,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP3 HGNC ENSG00000131584 80 0 0 90 27 23.0769 CPSF3L 0 genome.wustl.edu 37 1 1248444 1248444 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 1248444 1248444 G A SNP CPSF3L ENST00000540437 human ensembl 74_37 -1 known missense c.1120 p.R374W 1.000 NULL pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 34 0 0 43 20 31.746 DVL1 0 genome.wustl.edu 37 1 1275151 1275151 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 1275151 1275151 G A SNP DVL1 ENST00000378888 human ensembl 74_37 -1 known silent c.951 p.A317 0.738 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam - no_errors DVL1 HGNC ENSG00000107404 69 0 0 99 13 11.6071 PDE4DIP 0 genome.wustl.edu 37 1 145075923 145075923 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 145075923 145075923 C T SNP PDE4DIP ENST00000528552 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 35 0 0 53 11 17.1875 ITGA10 0 genome.wustl.edu 37 1 145535840 145535840 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 145535840 145535840 G A SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known silent c.2028 p.L676 0.021 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 165 0 0 201 19 8.63636 CHD1L 0 genome.wustl.edu 37 1 146766109 146766109 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 146766109 146766109 G A SNP CHD1L ENST00000369258 human ensembl 74_37 +1 known missense c.2525 p.R842H 1.000 pfscan_Macro_dom pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Macro_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC ENSG00000131778 257 1 0.387597 217 65 23.0496 PLEKHO1 0 genome.wustl.edu 37 1 150131356 150131356 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 150131356 150131356 C T SNP PLEKHO1 ENST00000025469 human ensembl 74_37 +1 known missense c.766 p.R256W 0.004 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHO1 HGNC ENSG00000023902 93 0 0 125 29 18.8312 FLG 0 genome.wustl.edu 37 1 152275618 152275618 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 152275618 152275618 G T SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11744 p.S3915Y 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 124 0 0 143 38 20.9945 FLG 0 genome.wustl.edu 37 1 152277049 152277049 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 152277049 152277049 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10313 p.P3438L 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 646 1 0.15456 650 164 20.1474 FLG 0 genome.wustl.edu 37 1 152277533 152277533 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 152277533 152277533 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.9829 p.R3277C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 736 3 0.405954 827 165 16.6331 LCE1E 0 genome.wustl.edu 37 1 152759797 152759797 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 152759797 152759797 C T SNP LCE1E ENST00000368770 human ensembl 74_37 +1 known nonsense c.22 p.Q8* 1.000 NULL NULL - no_errors LCE1E HGNC ENSG00000186226 336 0 0 376 81 17.7243 INTS3 0 genome.wustl.edu 37 1 153744815 153744815 + Splice_Site SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 153744815 153744815 G A SNP INTS3 ENST00000318967 human ensembl 74_37 +1 known splice_site c.2721-1 e27-1 1.000 - - - no_errors INTS3 HGNC ENSG00000143624 119 0 0 137 37 21.2644 MSTO1 0 genome.wustl.edu 37 1 155582612 155582612 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 155582612 155582612 C T SNP MSTO1 ENST00000466815 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MSTO1 HGNC ENSG00000125459 89 0 0 82 18 18 NTRK1 0 genome.wustl.edu 37 1 156843499 156843499 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 156843499 156843499 C T SNP NTRK1 ENST00000524377 human ensembl 74_37 +1 known missense c.925 p.P309S 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Cys-rich_flank_reg_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_neurotrophic_rcpt_1,prints_Tyr_kinase_NGF_rcpt - no_errors NTRK1 HGNC ENSG00000198400 19 0 0 27 7 20.5882 SPTA1 0 genome.wustl.edu 37 1 158622284 158622284 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 158622284 158622284 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.3348 p.L1116 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 197 0 0 201 45 18.2927 OR6K3 0 genome.wustl.edu 37 1 158687412 158687412 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 158687412 158687412 G T SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known missense c.542 p.T181K 0.017 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 134 0 0 140 37 20.904 ARHGAP30 0 genome.wustl.edu 37 1 161023081 161023081 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 161023081 161023081 C T SNP ARHGAP30 ENST00000368013 human ensembl 74_37 -1 known missense c.631 p.V211M 0.999 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP30 HGNC ENSG00000186517 81 0 0 86 20 18.8679 CDK11A 0 genome.wustl.edu 37 1 1636055 1636055 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 1636055 1636055 C T SNP CDK11A ENST00000404249 human ensembl 74_37 -1 known missense c.1498 p.V500M 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11A HGNC ENSG00000008128 19 0 0 27 6 18.1818 MIR199A2 0 genome.wustl.edu 37 1 172113759 172113759 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 172113759 172113759 C T SNP MIR199A2 ENST00000385289 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR199A2 HGNC ENSG00000208024 40 0 0 52 18 25.7143 SLC9C2 0 genome.wustl.edu 37 1 173545816 173545816 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 173545816 173545816 C T SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.886 p.E296K 0.112 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 51 0 0 53 22 29.3333 PAPPA2 0 genome.wustl.edu 37 1 176675551 176675551 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 176675551 176675551 A G SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.3422 p.K1141R 0.013 tigrfam_Myxo_disulph_rpt pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 87 0 0 82 21 20.3883 QSOX1 0 genome.wustl.edu 37 1 180155212 180155212 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 180155212 180155212 G A SNP QSOX1 ENST00000367602 human ensembl 74_37 +1 known silent c.912 p.L304 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC ENSG00000116260 110 0 0 111 42 27.451 CACNA1E 0 genome.wustl.edu 37 1 181702089 181702089 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 181702089 181702089 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.2867 p.G956E 0.779 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 111 0 0 109 23 17.4242 ZNF648 0 genome.wustl.edu 37 1 182026671 182026671 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 182026671 182026671 C T SNP ZNF648 ENST00000339948 human ensembl 74_37 -1 novel missense c.475 p.A159T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 93 0 0 94 22 18.9655 LAMC1 0 genome.wustl.edu 37 1 183077451 183077451 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 183077451 183077451 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.764 p.R255H 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 191 1 0.520833 207 43 17.2 LAMC1 0 genome.wustl.edu 37 1 183083684 183083684 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 183083684 183083684 G A SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.1040 p.R347Q 0.981 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 393 1 0.253807 410 70 14.5833 FAM129A 0 genome.wustl.edu 37 1 184863256 184863256 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 184863256 184863256 C T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.271 p.V91I 0.054 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 171 0 0 138 37 21.1429 TPR 0 genome.wustl.edu 37 1 186296653 186296653 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 186296653 186296653 A G SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.5828 p.V1943A 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 26 0 0 37 17 31.4815 PDC 0 genome.wustl.edu 37 1 186413572 186413572 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 186413572 186413572 G A SNP PDC ENST00000340129 human ensembl 74_37 -1 known missense c.280 p.R94C 1.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDC HGNC ENSG00000116703 176 0 0 201 51 20.2381 CFHR5 0 genome.wustl.edu 37 1 196971705 196971705 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 196971705 196971705 C T SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.1313 p.A438V 0.027 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 80 0 0 94 31 24.8 CRB1 0 genome.wustl.edu 37 1 197404029 197404029 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 197404029 197404029 G A SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.3036 p.L1012 0.691 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 119 0 0 161 25 13.4409 LAD1 0 genome.wustl.edu 37 1 201352206 201352206 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 201352206 201352206 C T SNP LAD1 ENST00000367313 human ensembl 74_37 -1 known missense c.1424 p.R475Q 0.002 pirsf_Ladinin_1 pirsf_Ladinin_1 - no_errors LAD1 HGNC ENSG00000159166 262 0 0 282 46 14.0244 PPP1R12B 0 genome.wustl.edu 37 1 202385958 202385958 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 202385958 202385958 A T SNP PPP1R12B ENST00000336894 human ensembl 74_37 +1 known missense c.335 p.E112V 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12B HGNC ENSG00000077157 154 0 0 195 47 19.4215 TMCC2 0 genome.wustl.edu 37 1 205238587 205238587 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 205238587 205238587 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.1257 p.T419 0.002 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 80 0 0 121 31 20.3947 MAPKAPK2 0 genome.wustl.edu 37 1 206905309 206905309 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 206905309 206905309 G A SNP MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 192 0 0 183 57 23.75 PIGR 0 genome.wustl.edu 37 1 207105105 207105105 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 207105105 207105105 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known missense c.2051 p.S684L 0.997 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 162 0 0 182 41 18.3857 KCNH1 0 genome.wustl.edu 37 1 210970965 210970965 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 210970965 210970965 C A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.1800 p.V600 0.994 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 110 0 0 135 28 17.1779 FAM71A 0 genome.wustl.edu 37 1 212798363 212798363 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 212798363 212798363 C T SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known silent c.144 p.S48 0.995 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 143 1 0.694444 166 32 16.1616 RPS6KC1 0 genome.wustl.edu 37 1 213302993 213302993 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 213302993 213302993 C T SNP RPS6KC1 ENST00000366960 human ensembl 74_37 +1 known missense c.596 p.S199L 0.536 NULL pfam_Prot_kinase_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors RPS6KC1 HGNC ENSG00000136643 125 0 0 141 32 18.4971 PTPN14 0 genome.wustl.edu 37 1 214557590 214557590 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 214557590 214557590 C T SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.1608 p.T536 0.914 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 150 0 0 189 49 20.5882 CENPF 0 genome.wustl.edu 37 1 214815832 214815832 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 214815832 214815832 T C SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.4151 p.L1384S 0.782 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 62 0 0 99 22 18.1818 RAP1GAP 0 genome.wustl.edu 37 1 21937954 21937954 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 21937954 21937954 G A SNP RAP1GAP ENST00000290101 human ensembl 74_37 -1 known silent c.1026 p.D342 0.996 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_Rap_GAP_dom,pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Rap_GAP_dom - no_errors RAP1GAP HGNC ENSG00000076864 26 0 0 33 7 17.5 MIA3 0 genome.wustl.edu 37 1 222833602 222833602 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 222833602 222833602 G A SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.5059 p.V1687M 0.001 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 81 0 0 95 21 18.1034 ADCK3 0 genome.wustl.edu 37 1 227174287 227174287 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 227174287 227174287 G A SNP ADCK3 ENST00000366777 human ensembl 74_37 +1 known missense c.1793 p.R598H 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ENSG00000163050 160 0 0 202 40 16.5289 ARF1 0 genome.wustl.edu 37 1 228285303 228285303 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 228285303 228285303 G A SNP ARF1 ENST00000272102 human ensembl 74_37 +1 known missense c.271 p.V91M 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 152 1 0.653595 176 38 17.757 ARF1 0 genome.wustl.edu 37 1 228285355 228285355 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 228285355 228285355 T C SNP ARF1 ENST00000272102 human ensembl 74_37 +1 known missense c.323 p.M108T 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 123 1 0.806452 138 33 19.2982 OBSCN 0 genome.wustl.edu 37 1 228481116 228481116 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 228481116 228481116 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.10930 p.V3644M 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_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 76 0 0 83 17 17 OBSCN 0 genome.wustl.edu 37 1 228506705 228506705 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 228506705 228506705 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.14252 p.R4751H 0.998 NULL 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 18 0 0 19 4 17.3913 HIST3H3 0 genome.wustl.edu 37 1 228613002 228613002 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 228613002 228613002 G A SNP HIST3H3 ENST00000366696 human ensembl 74_37 -1 known missense c.25 p.R9C 0.999 superfamily_Histone-fold,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST3H3 HGNC ENSG00000168148 122 0 0 116 36 23.6842 RAB4A 0 genome.wustl.edu 37 1 229438688 229438688 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 229438688 229438688 C T SNP RAB4A ENST00000366690 human ensembl 74_37 +1 known silent c.621 p.R207 0.002 superfamily_P-loop_NTPase,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB4A HGNC ENSG00000168118 192 0 0 211 32 13.1687 ACTA1 0 genome.wustl.edu 37 1 229567811 229567811 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 229567811 229567811 G A SNP ACTA1 ENST00000366684 human ensembl 74_37 -1 known silent c.738 p.D246 0.996 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA1 HGNC ENSG00000143632 25 0 0 28 7 20 TAF5L 0 genome.wustl.edu 37 1 229750217 229750217 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 229750217 229750217 G A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.13 p.R5C 1.000 NULL pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 75 0 0 107 29 21.3235 URB2 0 genome.wustl.edu 37 1 229773794 229773794 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 229773794 229773794 G A SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.3434 p.R1145K 0.000 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 112 0 0 112 19 14.5038 SLC35F3 0 genome.wustl.edu 37 1 234367374 234367374 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 234367374 234367374 G A SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known silent c.288 p.A96 0.523 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 249 0 0 321 87 21.3235 NID1 0 genome.wustl.edu 37 1 236148772 236148772 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 236148772 236148772 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.2962 p.V988M 1.000 smart_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 61 0 0 75 15 16.6667 RYR2 0 genome.wustl.edu 37 1 237656303 237656303 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 237656303 237656303 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.1871 p.R624H 1.000 pfam_Ca-rel_channel,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 8 0 0 16 4 20 RYR2 0 genome.wustl.edu 37 1 237947036 237947036 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 237947036 237947036 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.12042 p.N4014 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 30 0 0 16 5 23.8095 WDR64 0 genome.wustl.edu 37 1 241907814 241907814 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 241907814 241907814 T C SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known silent c.1560 p.Y520 0.979 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 75 0 0 109 30 21.5827 ZNF695 0 genome.wustl.edu 37 1 247151469 247151469 + Missense_Mutation SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 247151469 247151469 T A SNP ZNF695 ENST00000339986 human ensembl 74_37 -1 known missense c.348 p.R116S 0.488 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 276 0 0 253 63 19.9367 OR2T3 0 genome.wustl.edu 37 1 248636891 248636891 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 248636891 248636891 C T SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known silent c.240 p.C80 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 OR2T3 HGNC ENSG00000196539 38 0 0 18 13 41.9355 HMGN2 0 genome.wustl.edu 37 1 26801752 26801752 + RNA SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 26801752 26801752 T A SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 25 0 0 39 4 9.30233 ARID1A 0 genome.wustl.edu 37 1 27106648 27106648 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 27106648 27106648 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.6259 p.G2087R 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 111 0 0 174 47 21.267 PIGV 0 genome.wustl.edu 37 1 27121087 27121087 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 27121087 27121087 C T SNP PIGV ENST00000078527 human ensembl 74_37 +1 known nonsense c.562 p.R188* 1.000 pfam_GPI_Mannosyltransferase_2 pfam_GPI_Mannosyltransferase_2 - no_errors PIGV HGNC ENSG00000060642 92 0 0 125 26 17.2185 ACTRT2 0 genome.wustl.edu 37 1 2939191 2939191 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 2939191 2939191 G A SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.941 p.R314Q 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 145 1 0.684932 159 43 21.2871 SPOCD1 0 genome.wustl.edu 37 1 32280324 32280324 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 32280324 32280324 C A SNP SPOCD1 ENST00000360482 human ensembl 74_37 -1 known missense c.611 p.R204M 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 203 0 0 286 62 17.8161 PRDM16 0 genome.wustl.edu 37 1 3328020 3328020 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 3328020 3328020 G A SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known missense c.1259 p.R420H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 85 0 0 107 12 10.084 MEGF6 0 genome.wustl.edu 37 1 3424477 3424477 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 3424477 3424477 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.1671 p.P557 0.074 NULL pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 51 0 0 76 16 17.3913 MEGF6 0 genome.wustl.edu 37 1 3432062 3432062 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 3432062 3432062 C T SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known missense c.634 p.G212S 0.998 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 61 0 0 69 9 11.5385 THRAP3 0 genome.wustl.edu 37 1 36752135 36752135 + Nonsense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 36752135 36752135 G T SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known nonsense c.304 p.G102* 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 235 0 0 246 64 20.6452 THRAP3 0 genome.wustl.edu 37 1 36756997 36756997 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 36756997 36756997 G A SNP THRAP3 ENST00000354618 human ensembl 74_37 +1 known missense c.1768 p.E590K 1.000 NULL NULL - no_errors THRAP3 HGNC ENSG00000054118 49 0 0 48 12 20 CAP1 0 genome.wustl.edu 37 1 40533259 40533259 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 40533259 40533259 C T SNP CAP1 ENST00000372792 human ensembl 74_37 +1 known silent c.678 p.A226 1.000 pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP1 HGNC ENSG00000131236 53 0 0 66 18 21.4286 SCMH1 0 genome.wustl.edu 37 1 41582667 41582667 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 41582667 41582667 G A SNP SCMH1 ENST00000326197 human ensembl 74_37 -1 known missense c.398 p.A133V 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 45 0 0 56 12 17.6471 SZT2 0 genome.wustl.edu 37 1 43908512 43908512 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 43908512 43908512 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.8003 p.P2668L 0.998 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 240 0 0 268 54 16.7702 PTPRF 0 genome.wustl.edu 37 1 44084972 44084972 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 44084972 44084972 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known missense c.4660 p.R1554C 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 48 0 0 63 17 21.25 IPO13 0 genome.wustl.edu 37 1 44429947 44429947 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 44429947 44429947 G A SNP IPO13 ENST00000372343 human ensembl 74_37 +1 known missense c.2351 p.R784K 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO13 HGNC ENSG00000117408 148 0 0 164 37 18.408 PLK3 0 genome.wustl.edu 37 1 45271288 45271288 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 45271288 45271288 C T SNP PLK3 ENST00000372201 human ensembl 74_37 +1 known missense c.1879 p.P627S 0.998 pfam_POLO_box_duplicated_dom,pfscan_POLO_box_duplicated_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 155 0 0 181 35 16.2037 HECTD3 0 genome.wustl.edu 37 1 45470328 45470328 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 45470328 45470328 G A SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.2086 p.R696C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 200 0 0 233 48 17.0819 LURAP1 0 genome.wustl.edu 37 1 46669228 46669228 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 46669228 46669228 C T SNP LURAP1 ENST00000371980 human ensembl 74_37 +1 known silent c.130 p.L44 0.845 NULL NULL - no_errors LURAP1 HGNC ENSG00000171357 58 0 0 82 16 16.3265 SLC5A9 0 genome.wustl.edu 37 1 48705022 48705022 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 48705022 48705022 T C SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.1565 p.L522P 1.000 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 124 0 0 151 27 15.1685 ZFYVE9 0 genome.wustl.edu 37 1 52800392 52800392 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 52800392 52800392 G A SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.3622 p.A1208T 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 191 0 0 198 34 14.6552 ACOT11 0 genome.wustl.edu 37 1 55072856 55072856 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 55072856 55072856 G A SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known missense c.1420 p.V474I 0.936 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 78 0 0 75 18 19.3548 MROH7-TTC4 0 genome.wustl.edu 37 1 55167778 55167778 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 55167778 55167778 C T SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.3301 p.R1101C 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 29 0 0 41 11 21.1538 INADL 0 genome.wustl.edu 37 1 62341105 62341105 + RNA SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 62341105 62341105 T C SNP INADL ENST00000488913 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors INADL HGNC ENSG00000132849 56 0 0 88 14 13.7255 L1TD1 0 genome.wustl.edu 37 1 62675694 62675694 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 62675694 62675694 A G SNP L1TD1 ENST00000498273 human ensembl 74_37 +1 known silent c.1248 p.E416 0.000 NULL pfam_Transposase_22,superfamily_STAT_TF_coiled-coil - no_errors L1TD1 HGNC ENSG00000240563 66 0 0 91 17 15.7407 ATG4C 0 genome.wustl.edu 37 1 63329809 63329809 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 63329809 63329809 G A SNP ATG4C ENST00000317868 human ensembl 74_37 +1 known silent c.1356 p.T452 0.997 NULL pfam_Peptidase_C54 - no_errors ATG4C HGNC ENSG00000125703 58 0 0 78 22 22 UBE2U 0 genome.wustl.edu 37 1 64707368 64707368 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 64707368 64707368 A G SNP UBE2U ENST00000371076 human ensembl 74_37 +1 known missense c.629 p.Y210C 0.874 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2U HGNC ENSG00000177414 55 0 0 54 15 21.7391 PLEKHG5 0 genome.wustl.edu 37 1 6533156 6533156 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 6533156 6533156 G A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known silent c.1111 p.L371 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 98 0 0 114 35 23.4899 DNAJC6 0 genome.wustl.edu 37 1 65858399 65858399 + Missense_Mutation SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 65858399 65858399 T G SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.1754 p.F585C 1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 57 0 0 81 16 16.4948 TAS1R1 0 genome.wustl.edu 37 1 6634730 6634730 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 6634730 6634730 C T SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.538 p.R180W 0.241 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R1 HGNC ENSG00000173662 76 0 0 104 19 15.4472 NEGR1 0 genome.wustl.edu 37 1 72400932 72400932 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 72400932 72400932 G A SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.239 p.A80V 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 120 0 0 143 29 16.8605 CAMTA1 0 genome.wustl.edu 37 1 7723546 7723546 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 7723546 7723546 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known silent c.939 p.H313 0.825 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 98 0 0 130 41 23.9766 RERE 0 genome.wustl.edu 37 1 8416191 8416191 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 8416191 8416191 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known silent c.4455 p.H1485 0.997 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 223 0 0 283 72 20.2817 LMO4 0 genome.wustl.edu 37 1 87810502 87810502 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 87810502 87810502 C T SNP LMO4 ENST00000489303 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LMO4 HGNC ENSG00000143013 114 0 0 111 26 18.9781 SLC2A7 0 genome.wustl.edu 37 1 9078339 9078339 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 9078339 9078339 C T SNP SLC2A7 ENST00000400906 human ensembl 74_37 -1 known missense c.532 p.V178I 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 61 0 0 64 15 18.9873 ZNF644 0 genome.wustl.edu 37 1 91406777 91406777 + Missense_Mutation SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 91406777 91406777 T G SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.134 p.D45A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 173 0 0 202 54 21.0938 PIK3CD 0 genome.wustl.edu 37 1 9781845 9781845 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 9781845 9781845 C T SNP PIK3CD ENST00000536656 human ensembl 74_37 +1 known missense c.2054 p.A685V 0.996 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 102 0 0 120 31 20.5298 CLSTN1 0 genome.wustl.edu 37 1 9795563 9795563 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 9795563 9795563 C T SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known silent c.1845 p.T615 0.131 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 197 0 0 166 57 25.5605 DPYD 0 genome.wustl.edu 37 1 98058819 98058819 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 98058819 98058819 G A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known silent c.1083 p.I361 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 172 0 0 216 43 16.6023 LPPR5 0 genome.wustl.edu 37 1 99469999 99469999 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 99469999 99469999 C T SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known missense c.229 p.V77M 0.995 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 19 0 0 26 9 25.7143 LBX1 0 genome.wustl.edu 37 10 102988431 102988431 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 102988431 102988431 G A SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known missense c.142 p.R48W 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 21 0 0 34 7 17.0732 GBF1 0 genome.wustl.edu 37 10 104018769 104018769 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 104018769 104018769 G A SNP GBF1 ENST00000369983 human ensembl 74_37 +1 known missense c.74 p.R25Q 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors GBF1 HGNC ENSG00000107862 164 0 0 167 56 25.1121 NT5C2 0 genome.wustl.edu 37 10 104934693 104934693 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 104934693 104934693 C T SNP NT5C2 ENST00000343289 human ensembl 74_37 -1 known missense c.23 p.R8Q 1.000 pirsf_Pur_nucleotidase pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC ENSG00000076685 278 0 0 295 56 15.9544 PDCD11 0 genome.wustl.edu 37 10 105178356 105178356 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 105178356 105178356 C T SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known nonsense c.2071 p.R691* 0.134 superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 57 0 0 97 19 16.3793 COL17A1 0 genome.wustl.edu 37 10 105816869 105816869 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 105816869 105816869 G A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known silent c.1329 p.G443 0.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 61 0 0 92 26 22.0339 C10orf118 0 genome.wustl.edu 37 10 115884951 115884951 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 115884951 115884951 C T SNP C10orf118 ENST00000369287 human ensembl 74_37 -1 known missense c.2648 p.R883H 0.998 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC ENSG00000165813 64 0 0 49 9 15.5172 ABLIM1 0 genome.wustl.edu 37 10 116232891 116232891 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 116232891 116232891 C T SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.1120 p.A374T 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 161 0 0 162 43 20.9756 GFRA1 0 genome.wustl.edu 37 10 118030416 118030416 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 118030416 118030416 G A SNP GFRA1 ENST00000355422 human ensembl 74_37 -1 known silent c.252 p.L84 0.531 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt_A1 pfam_GDNF/GAS1,smart_GDNF/GAS1,pirsf_Glial_neurotroph_fac_rcpt_a1/2,prints_GDNF_rcpt,prints_GDNF_rcpt_A1 - no_errors GFRA1 HGNC ENSG00000151892 50 0 0 73 17 18.8889 PNLIP 0 genome.wustl.edu 37 10 118313341 118313341 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 118313341 118313341 C T SNP PNLIP ENST00000369221 human ensembl 74_37 +1 known missense c.562 p.R188C 0.961 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 58 0 0 58 14 19.4444 BAG3 0 genome.wustl.edu 37 10 121429560 121429560 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 121429560 121429560 G A SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known silent c.378 p.A126 0.004 NULL pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 170 0 0 209 48 18.677 ACADSB 0 genome.wustl.edu 37 10 124810661 124810661 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 124810661 124810661 T C SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.1087 p.F363L 0.918 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 17 0 0 37 8 17.7778 HMX2 0 genome.wustl.edu 37 10 124909353 124909353 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 124909353 124909353 G A SNP HMX2 ENST00000339992 human ensembl 74_37 +1 known missense c.536 p.R179H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HMX2 HGNC ENSG00000188816 29 0 0 46 14 23.3333 DOCK1 0 genome.wustl.edu 37 10 128851016 128851016 + Missense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 128851016 128851016 A C SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.2210 p.K737T 0.999 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 80 0 0 78 25 24.2718 MCM10 0 genome.wustl.edu 37 10 13217572 13217572 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 13217572 13217572 C T SNP MCM10 ENST00000484800 human ensembl 74_37 +1 known missense c.658 p.R220W 0.884 NULL pfam_Rep_factor_Mcm10,pfam_Znf_Mcm10/DnaG - no_errors MCM10 HGNC ENSG00000065328 203 0 0 230 50 17.8571 DPYSL4 0 genome.wustl.edu 37 10 134004293 134004293 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 134004293 134004293 G A SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.82 p.D28N 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 56 0 0 73 14 16.092 KNDC1 0 genome.wustl.edu 37 10 134999950 134999950 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 134999950 134999950 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known silent c.1098 p.E366 0.047 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 41 0 0 40 16 28.5714 HSPA14 0 genome.wustl.edu 37 10 14881910 14881910 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 14881910 14881910 C T SNP HSPA14 ENST00000378372 human ensembl 74_37 +1 known missense c.64 p.R22W 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 166 0 0 162 29 15.1832 CUBN 0 genome.wustl.edu 37 10 16948350 16948350 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 16948350 16948350 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.7764 p.D2588 0.479 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 126 0 0 150 26 14.7727 KIAA1462 0 genome.wustl.edu 37 10 30318027 30318027 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 30318027 30318027 C T SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known silent c.1050 p.P350 0.020 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 267 0 0 304 60 16.4835 PFKP 0 genome.wustl.edu 37 10 3155640 3155640 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 3155640 3155640 G A SNP PFKP ENST00000381125 human ensembl 74_37 +1 known missense c.1301 p.R434H 0.995 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKP HGNC ENSG00000067057 39 0 0 54 7 11.4754 ARHGAP12 0 genome.wustl.edu 37 10 32101590 32101590 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 32101590 32101590 C T SNP ARHGAP12 ENST00000497103 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP12 HGNC ENSG00000165322 66 0 0 77 11 12.5 PARD3 0 genome.wustl.edu 37 10 34573135 34573135 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 34573135 34573135 G A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known missense c.3113 p.T1038M 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 284 0 0 283 58 17.0088 FZD8 0 genome.wustl.edu 37 10 35929386 35929386 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 35929386 35929386 C T SNP FZD8 ENST00000374694 human ensembl 74_37 -1 known silent c.972 p.S324 0.055 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD8 HGNC ENSG00000177283 19 0 0 29 7 19.4444 C10orf10 0 genome.wustl.edu 37 10 45472904 45472904 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 45472904 45472904 C T SNP C10orf10 ENST00000298295 human ensembl 74_37 -1 known missense c.575 p.R192H 0.000 NULL NULL - no_errors C10orf10 HGNC ENSG00000165507 134 0 0 180 37 17.0507 NPY4R 0 genome.wustl.edu 37 10 47087852 47087852 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 47087852 47087852 G A SNP NPY4R ENST00000374312 human ensembl 74_37 +1 known missense c.1069 p.V357I 0.973 prints_NPY4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY4R HGNC ENSG00000204174 260 0 0 361 30 7.67263 MAPK8 0 genome.wustl.edu 37 10 49632628 49632628 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 49632628 49632628 C T SNP MAPK8 ENST00000374176 human ensembl 74_37 +1 known missense c.688 p.H230Y 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom - no_errors MAPK8 HGNC ENSG00000107643 163 1 0.609756 130 31 19.2547 ERCC6 0 genome.wustl.edu 37 10 50736485 50736485 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 50736485 50736485 G A SNP ERCC6 ENST00000355832 human ensembl 74_37 -1 known silent c.630 p.H210 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 109 0 0 125 31 19.8718 ANK3 0 genome.wustl.edu 37 10 62021646 62021646 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 62021646 62021646 G A SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known nonsense c.769 p.R257* 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 71 0 0 110 20 15.3846 ARID5B 0 genome.wustl.edu 37 10 63852248 63852248 + Missense_Mutation SNP C C G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 63852248 63852248 C G SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.3026 p.A1009G 0.876 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 210 0 0 211 32 13.1687 ARID5B 0 genome.wustl.edu 37 10 63852392 63852392 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 63852392 63852392 C T SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.3170 p.A1057V 0.008 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 132 0 0 163 10 5.78035 PALD1 0 genome.wustl.edu 37 10 72324139 72324139 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 72324139 72324139 C T SNP PALD1 ENST00000263563 human ensembl 74_37 +1 known missense c.2282 p.A761V 0.994 NULL smart_Tyr_Pase_cat - no_errors PALD1 HGNC ENSG00000107719 147 0 0 160 45 21.9512 SFMBT2 0 genome.wustl.edu 37 10 7290522 7290522 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 7290522 7290522 C T SNP SFMBT2 ENST00000361972 human ensembl 74_37 -1 known silent c.960 p.A320 0.998 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SFMBT2 HGNC ENSG00000198879 89 0 0 104 14 11.8644 AGAP5 0 genome.wustl.edu 37 10 75435611 75435611 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 75435611 75435611 C T SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known silent c.807 p.P269 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 238 0 0 285 64 18.3381 ITIH2 0 genome.wustl.edu 37 10 7769693 7769693 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 7769693 7769693 G A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.1181 p.R394Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 81 0 0 106 20 15.873 DLG5 0 genome.wustl.edu 37 10 79576781 79576781 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 79576781 79576781 G A SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known silent c.3858 p.V1286 0.031 NULL pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 128 0 0 97 28 22.4 POLR3A 0 genome.wustl.edu 37 10 79752975 79752975 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 79752975 79752975 T C SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.2767 p.R923G 1.000 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 249 0 0 234 67 22.2591 EIF5AL1 0 genome.wustl.edu 37 10 81272560 81272560 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 81272560 81272560 G A SNP EIF5AL1 ENST00000520547 human ensembl 74_37 +1 known missense c.155 p.G52D 1.000 superfamily_Translation_prot_SH3-like,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5AL1 HGNC ENSG00000253626 19 0 0 21 10 32.2581 MAT1A 0 genome.wustl.edu 37 10 82033576 82033576 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 82033576 82033576 G A SNP MAT1A ENST00000372213 human ensembl 74_37 -1 known silent c.1149 p.S383 0.083 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT1A HGNC ENSG00000151224 304 0 0 348 73 17.3397 LDB3 0 genome.wustl.edu 37 10 88439846 88439846 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 88439846 88439846 C T SNP LDB3 ENST00000429277 human ensembl 74_37 +1 known missense c.253 p.R85C 1.000 superfamily_PDZ pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 69 0 0 85 17 16.6667 LIPA 0 genome.wustl.edu 37 10 91005477 91005477 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 91005477 91005477 C T SNP LIPA ENST00000336233 human ensembl 74_37 -1 known missense c.185 p.C62Y 1.000 pfam_AB_hydrolase_lipase pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC ENSG00000107798 120 0 0 139 34 19.6532 IFIT1B 0 genome.wustl.edu 37 10 91143252 91143252 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 91143252 91143252 T C SNP IFIT1B ENST00000371809 human ensembl 74_37 +1 known missense c.182 p.V61A 0.956 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 138 0 0 160 31 16.2304 PPP1R3C 0 genome.wustl.edu 37 10 93389996 93389996 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 93389996 93389996 A T SNP PPP1R3C ENST00000238994 human ensembl 74_37 -1 known missense c.642 p.D214E 1.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 166 0 0 179 34 15.9624 MARCH5 0 genome.wustl.edu 37 10 94109437 94109437 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 94109437 94109437 G T SNP MARCH5 ENST00000358935 human ensembl 74_37 +1 known missense c.563 p.C188F 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH5 HGNC ENSG00000198060 640 0 0 663 142 17.6398 TBC1D12 0 genome.wustl.edu 37 10 96259980 96259980 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 96259980 96259980 G A SNP TBC1D12 ENST00000225235 human ensembl 74_37 +1 known missense c.1415 p.R472H 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 64 0 0 65 15 18.75 HELLS 0 genome.wustl.edu 37 10 96333921 96333921 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 96333921 96333921 G A SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.682 p.V228I 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 155 0 0 183 33 15.2778 CYP2C19 0 genome.wustl.edu 37 10 96535238 96535238 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 96535238 96535238 T C SNP CYP2C19 ENST00000371321 human ensembl 74_37 +1 known silent c.423 p.I141 0.994 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2C19 HGNC ENSG00000165841 214 0 0 203 46 18.4739 SLIT1 0 genome.wustl.edu 37 10 98823348 98823348 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 98823348 98823348 G A SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known silent c.657 p.C219 0.828 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 29 0 0 36 10 21.7391 CRTAC1 0 genome.wustl.edu 37 10 99677361 99677361 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 99677361 99677361 C T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.611 p.G204D 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 75 0 0 71 19 21.1111 MUC6 0 genome.wustl.edu 37 11 1018685 1018685 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 1018685 1018685 T C SNP MUC6 ENST00000421673 human ensembl 74_37 -1 known silent c.4116 p.P1372 0.203 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 213 0 0 244 73 23.0284 MMP7 0 genome.wustl.edu 37 11 102398591 102398591 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 102398591 102398591 C T SNP MMP7 ENST00000260227 human ensembl 74_37 -1 known missense c.232 p.V78I 0.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A - no_errors MMP7 HGNC ENSG00000137673 144 0 0 155 36 18.8482 EXPH5 0 genome.wustl.edu 37 11 108382068 108382068 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 108382068 108382068 A G SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.4166 p.L1389S 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 79 0 0 111 23 17.1642 ZBTB16 0 genome.wustl.edu 37 11 113934884 113934884 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 113934884 113934884 G A SNP ZBTB16 ENST00000335953 human ensembl 74_37 +1 known missense c.862 p.V288I 1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB16 HGNC ENSG00000109906 101 0 0 122 30 19.7368 GALNT18 0 genome.wustl.edu 37 11 11470334 11470334 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 11470334 11470334 G A SNP GALNT18 ENST00000227756 human ensembl 74_37 -1 known missense c.385 p.R129C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT18 HGNC ENSG00000110328 35 0 0 28 14 33.3333 BUD13 0 genome.wustl.edu 37 11 116631626 116631626 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 116631626 116631626 C T SNP BUD13 ENST00000260210 human ensembl 74_37 -1 known missense c.1079 p.R360Q 0.808 NULL pfam_Bud13 - no_errors BUD13 HGNC ENSG00000137656 122 0 0 116 35 23.1788 APOA5 0 genome.wustl.edu 37 11 116661768 116661768 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 116661768 116661768 G A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known silent c.177 p.S59 0.001 pfam_ApoA1_A4_E pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 50 0 0 54 15 21.7391 SIDT2 0 genome.wustl.edu 37 11 117064605 117064605 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 117064605 117064605 C T SNP SIDT2 ENST00000278951 human ensembl 74_37 +1 known missense c.2311 p.L771F 1.000 NULL NULL - no_errors SIDT2 HGNC ENSG00000149577 111 1 0.892857 120 26 17.8082 PCSK7 0 genome.wustl.edu 37 11 117077045 117077045 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 117077045 117077045 C T SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.2026 p.V676I 0.868 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 110 0 0 129 25 16.2338 ARCN1 0 genome.wustl.edu 37 11 118454580 118454580 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 118454580 118454580 G T SNP ARCN1 ENST00000264028 human ensembl 74_37 +1 known missense c.504 p.Q168H 1.000 NULL pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C - no_errors ARCN1 HGNC ENSG00000095139 133 1 0.746269 169 32 15.9204 TMEM136 0 genome.wustl.edu 37 11 120201049 120201049 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 120201049 120201049 C T SNP TMEM136 ENST00000314475 human ensembl 74_37 +1 known missense c.629 p.T210M 0.719 pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors TMEM136 HGNC ENSG00000181264 27 0 0 28 9 24.3243 MICAL2 0 genome.wustl.edu 37 11 12225908 12225908 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 12225908 12225908 G A SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.376 p.V126M 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 144 0 0 150 41 21.466 SCN3B 0 genome.wustl.edu 37 11 123508896 123508896 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 123508896 123508896 G A SNP SCN3B ENST00000299333 human ensembl 74_37 -1 known silent c.582 p.N194 0.768 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SCN3B HGNC ENSG00000166257 37 0 0 47 10 17.5439 OR10G8 0 genome.wustl.edu 37 11 123900389 123900389 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 123900389 123900389 G A SNP OR10G8 ENST00000431524 human ensembl 74_37 +1 known silent c.60 p.A20 0.003 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 249 0 0 279 62 18.1818 OR8G1 0 genome.wustl.edu 37 11 124121150 124121150 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 124121150 124121150 C A SNP OR8G1 ENST00000341493 human ensembl 74_37 +1 known missense c.728 p.S243Y 0.556 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8G1 HGNC ENSG00000197849 143 0 0 137 38 21.7143 MSANTD2 0 genome.wustl.edu 37 11 124637344 124637344 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 124637344 124637344 T C SNP MSANTD2 ENST00000374979 human ensembl 74_37 -1 known missense c.1408 p.T470A 0.624 NULL NULL - no_errors MSANTD2 HGNC ENSG00000120458 284 0 0 288 69 19.3277 MUC5B 0 genome.wustl.edu 37 11 1250470 1250470 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 1250470 1250470 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.1047 p.P349 0.038 pfam_TIL_dom,superfamily_TIL_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 12 0 0 13 5 27.7778 MUC5B 0 genome.wustl.edu 37 11 1250991 1250991 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 1250991 1250991 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.1183 p.R395C 0.091 smart_VWC_out,smart_VWF_C pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 11 0 0 9 4 30.7692 CDON 0 genome.wustl.edu 37 11 125867186 125867186 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 125867186 125867186 G A SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.2278 p.R760W 0.992 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 71 0 0 103 9 8.03571 TIRAP 0 genome.wustl.edu 37 11 126162425 126162425 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 126162425 126162425 G A SNP TIRAP ENST00000392678 human ensembl 74_37 +1 known missense c.121 p.E41K 0.022 pirsf_Tol-interleuk_rcpt_adapt_Tirap pfam_TIR_dom,superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Tirap,pfscan_TIR_dom - no_errors TIRAP HGNC ENSG00000150455 41 0 0 58 14 19.4444 FLI1 0 genome.wustl.edu 37 11 128638142 128638142 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 128638142 128638142 C T SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known silent c.360 p.N120 0.987 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 60 0 0 70 11 13.5802 BARX2 0 genome.wustl.edu 37 11 129306838 129306838 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 129306838 129306838 C T SNP BARX2 ENST00000281437 human ensembl 74_37 +1 known missense c.380 p.T127M 0.989 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors BARX2 HGNC ENSG00000043039 36 0 0 50 8 13.7931 JAM3 0 genome.wustl.edu 37 11 134015869 134015869 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 134015869 134015869 C T SNP JAM3 ENST00000529443 human ensembl 74_37 +1 known missense c.776 p.S259F 0.995 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 120 0 0 144 30 17.2414 NCAPD3 0 genome.wustl.edu 37 11 134038926 134038926 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 134038926 134038926 T C SNP NCAPD3 ENST00000534548 human ensembl 74_37 -1 known missense c.3125 p.H1042R 1.000 superfamily_ARM-type_fold,pirsf_NCAPD3 superfamily_ARM-type_fold,pirsf_NCAPD3 - no_errors NCAPD3 HGNC ENSG00000151503 69 0 0 60 18 23.0769 GLB1L3 0 genome.wustl.edu 37 11 134151966 134151966 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 134151966 134151966 G A SNP GLB1L3 ENST00000431683 human ensembl 74_37 +1 known missense c.479 p.R160H 1.000 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,prints_Glycoside_Hdrlase_35 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L3 HGNC ENSG00000166105 23 0 0 25 10 28.5714 MRGPRX2 0 genome.wustl.edu 37 11 19077199 19077199 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 19077199 19077199 T C SNP MRGPRX2 ENST00000329773 human ensembl 74_37 -1 known missense c.751 p.K251E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX2 HGNC ENSG00000183695 121 0 0 134 30 18.2927 WT1 0 genome.wustl.edu 37 11 32450131 32450131 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 32450131 32450131 G A SNP WT1 ENST00000332351 human ensembl 74_37 -1 known silent c.681 p.S227 1.000 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC ENSG00000184937 62 0 0 85 20 19.0476 MRGPRE 0 genome.wustl.edu 37 11 3249826 3249826 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 3249826 3249826 C T SNP MRGPRE ENST00000389832 human ensembl 74_37 -1 known silent c.204 p.A68 0.086 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRE HGNC ENSG00000184350 118 0 0 194 12 5.82524 DEPDC7 0 genome.wustl.edu 37 11 33047274 33047274 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 33047274 33047274 C T SNP DEPDC7 ENST00000241051 human ensembl 74_37 +1 known missense c.143 p.T48I 0.994 smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC7 HGNC ENSG00000121690 242 1 0.411523 234 58 19.863 HIPK3 0 genome.wustl.edu 37 11 33308378 33308378 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 33308378 33308378 G A SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.418 p.A140T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 67 0 0 115 32 21.7687 ZNF195 0 genome.wustl.edu 37 11 3392215 3392215 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 3392215 3392215 G A SNP ZNF195 ENST00000399602 human ensembl 74_37 -1 known silent c.216 p.D72 0.000 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF195 HGNC ENSG00000005801 484 0 0 486 97 16.6381 PAMR1 0 genome.wustl.edu 37 11 35456181 35456181 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 35456181 35456181 G A SNP PAMR1 ENST00000278360 human ensembl 74_37 -1 known missense c.1556 p.A519V 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 94 0 0 154 45 22.6131 RAG1 0 genome.wustl.edu 37 11 36596082 36596082 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 36596082 36596082 C T SNP RAG1 ENST00000299440 human ensembl 74_37 +1 known missense c.1228 p.R410W 1.000 NULL pfam_Znf_VDJ_recomb-activ_1,smart_Znf_RING,pfscan_Znf_RING - no_errors RAG1 HGNC ENSG00000166349 115 0 0 154 39 20.2073 LRRC4C 0 genome.wustl.edu 37 11 40137608 40137608 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 40137608 40137608 G A SNP LRRC4C ENST00000527150 human ensembl 74_37 -1 known missense c.235 p.R79W 0.201 smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors LRRC4C HGNC ENSG00000148948 113 0 0 128 19 12.9252 SYT13 0 genome.wustl.edu 37 11 45273978 45273978 + Silent SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 45273978 45273978 T G SNP SYT13 ENST00000020926 human ensembl 74_37 -1 known silent c.840 p.S280 0.001 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT13 HGNC ENSG00000019505 178 0 0 186 32 14.6789 PEX16 0 genome.wustl.edu 37 11 45935724 45935724 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 45935724 45935724 G A SNP PEX16 ENST00000241041 human ensembl 74_37 -1 known missense c.725 p.S242L 1.000 pfam_Pex16 pfam_Pex16 - no_errors PEX16 HGNC ENSG00000121680 25 0 0 32 3 8.57143 C11orf49 0 genome.wustl.edu 37 11 47183174 47183174 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 47183174 47183174 C T SNP C11orf49 ENST00000378615 human ensembl 74_37 +1 known silent c.999 p.D333 0.021 NULL NULL - no_errors C11orf49 HGNC ENSG00000149179 71 0 0 74 15 16.8539 ACP2 0 genome.wustl.edu 37 11 47267247 47267247 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 47267247 47267247 T C SNP ACP2 ENST00000256997 human ensembl 74_37 -1 known missense c.436 p.I146V 0.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACP2 HGNC ENSG00000134575 126 1 0.787402 131 28 17.6101 FNBP4 0 genome.wustl.edu 37 11 47765532 47765532 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 47765532 47765532 G A SNP FNBP4 ENST00000263773 human ensembl 74_37 -1 known nonsense c.1429 p.R477* 1.000 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors FNBP4 HGNC ENSG00000109920 85 0 0 103 7 6.36364 OR5W2 0 genome.wustl.edu 37 11 55681565 55681565 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 55681565 55681565 C A SNP OR5W2 ENST00000344514 human ensembl 74_37 -1 known missense c.494 p.R165L 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5W2 HGNC ENSG00000187612 139 0 0 157 29 15.5914 C11orf35 0 genome.wustl.edu 37 11 558939 558939 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 558939 558939 G A SNP C11orf35 ENST00000329451 human ensembl 74_37 -1 known silent c.75 p.G25 0.000 NULL pfam_Lamin_tail_dom - no_errors C11orf35 HGNC ENSG00000185522 58 0 0 66 15 18.5185 OR4D6 0 genome.wustl.edu 37 11 59224664 59224664 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 59224664 59224664 C T SNP OR4D6 ENST00000300127 human ensembl 74_37 +1 known silent c.231 p.T77 0.000 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 OR4D6 HGNC ENSG00000166884 159 0 0 184 60 24.5902 OR56A3 0 genome.wustl.edu 37 11 5969078 5969078 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 5969078 5969078 G A SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known missense c.502 p.A168T 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A3 HGNC ENSG00000184478 148 0 0 152 45 22.8426 MS4A14 0 genome.wustl.edu 37 11 60183466 60183466 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 60183466 60183466 C T SNP MS4A14 ENST00000300187 human ensembl 74_37 +1 known missense c.1025 p.S342F 0.000 NULL pfam_CD20-like - no_errors MS4A14 HGNC ENSG00000166928 63 0 0 80 14 14.8936 TMEM132A 0 genome.wustl.edu 37 11 60702844 60702844 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 60702844 60702844 C T SNP TMEM132A ENST00000005286 human ensembl 74_37 +1 known missense c.1960 p.R654W 1.000 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 34 0 0 38 7 15.5556 CD5 0 genome.wustl.edu 37 11 60885784 60885784 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 60885784 60885784 T C SNP CD5 ENST00000347785 human ensembl 74_37 +1 known missense c.232 p.S78P 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Tcell_CD5,prints_SRCR - no_errors CD5 HGNC ENSG00000110448 267 1 0.373134 329 58 14.9871 PHRF1 0 genome.wustl.edu 37 11 609248 609248 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 609248 609248 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.3792 p.S1264 0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 94 0 0 111 25 18.3824 DDB1 0 genome.wustl.edu 37 11 61094323 61094323 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 61094323 61094323 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known nonsense c.592 p.R198* 0.996 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 255 0 0 367 75 16.9683 DAGLA 0 genome.wustl.edu 37 11 61504756 61504756 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 61504756 61504756 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.1474 p.L492F 1.000 pfam_Lipase_3 pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 478 0 0 557 88 13.6434 DAGLA 0 genome.wustl.edu 37 11 61511578 61511578 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 61511578 61511578 T C SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known missense c.2746 p.F916L 1.000 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 67 0 0 86 5 5.49451 AHNAK 0 genome.wustl.edu 37 11 62303536 62303536 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 62303536 62303536 A G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.35 p.L12P 1.000 superfamily_PDZ,pfscan_PDZ superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 84 0 0 116 16 12.1212 LRRN4CL 0 genome.wustl.edu 37 11 62455946 62455946 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 62455946 62455946 G A SNP LRRN4CL ENST00000317449 human ensembl 74_37 -1 known missense c.35 p.A12V 0.229 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4CL HGNC ENSG00000177363 25 0 0 35 15 30 HNRNPUL2 0 genome.wustl.edu 37 11 62483395 62483395 + Silent SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 62483395 62483395 G T SNP HNRNPUL2 ENST00000301785 human ensembl 74_37 -1 known silent c.1996 p.R666 1.000 NULL pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPUL2 HGNC ENSG00000214753 43 0 0 63 12 16 ZBTB3 0 genome.wustl.edu 37 11 62519939 62519939 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 62519939 62519939 G A SNP ZBTB3 ENST00000394807 human ensembl 74_37 -1 known missense c.1348 p.P450S 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB3 HGNC ENSG00000185670 86 0 0 131 28 17.6101 MAP4K2 0 genome.wustl.edu 37 11 64566893 64566893 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 64566893 64566893 C T SNP MAP4K2 ENST00000294066 human ensembl 74_37 -1 known silent c.1053 p.P351 1.000 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 158 0 0 163 39 19.3069 TRIM3 0 genome.wustl.edu 37 11 6477741 6477741 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 6477741 6477741 G A SNP TRIM3 ENST00000345851 human ensembl 74_37 -1 known silent c.1215 p.Y405 0.991 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM3 HGNC ENSG00000110171 32 0 0 45 8 15.0943 SCYL1 0 genome.wustl.edu 37 11 65302744 65302744 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 65302744 65302744 T C SNP SCYL1 ENST00000270176 human ensembl 74_37 +1 known missense c.1277 p.V426A 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors SCYL1 HGNC ENSG00000142186 162 1 0.613497 186 41 18.0617 DNHD1 0 genome.wustl.edu 37 11 6532612 6532612 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 6532612 6532612 C T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.1345 p.R449W 0.001 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 137 0 0 183 40 17.9372 GAL3ST3 0 genome.wustl.edu 37 11 65810683 65810683 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 65810683 65810683 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known silent c.591 p.F197 1.000 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 102 1 0.970874 124 25 16.7785 CD248 0 genome.wustl.edu 37 11 66084469 66084469 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 66084469 66084469 C T SNP CD248 ENST00000311330 human ensembl 74_37 -1 known silent c.30 p.A10 0.980 NULL pfam_C-type_lectin,pfam_EGF-like_Ca-bd_dom,superfamily_C-type_lectin_fold,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_C-type_lectin - no_errors CD248 HGNC ENSG00000174807 11 0 0 6 3 33.3333 SPTBN2 0 genome.wustl.edu 37 11 66466195 66466195 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 66466195 66466195 C T SNP SPTBN2 ENST00000309996 human ensembl 74_37 -1 known missense c.3929 p.R1310H 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN2 HGNC ENSG00000173898 99 0 0 155 22 12.4294 PPP6R3 0 genome.wustl.edu 37 11 68341618 68341618 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 68341618 68341618 C T SNP PPP6R3 ENST00000393799 human ensembl 74_37 +1 known missense c.1385 p.T462M 1.000 pfam_SAPS pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R3 HGNC ENSG00000110075 133 0 0 134 26 16.25 CPT1A 0 genome.wustl.edu 37 11 68574954 68574954 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 68574954 68574954 C T SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known missense c.434 p.R145H 0.548 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 38 0 0 53 9 14.5161 NADSYN1 0 genome.wustl.edu 37 11 71174487 71174487 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 71174487 71174487 G A SNP NADSYN1 ENST00000319023 human ensembl 74_37 +1 known missense c.273 p.M91I 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_NAD/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_NAD_synthase,pfscan_C-N_Hydrolase,tigrfam_NAD_synthase - no_errors NADSYN1 HGNC ENSG00000172890 40 0 0 66 13 16.4557 FOLR3 0 genome.wustl.edu 37 11 71850856 71850856 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 71850856 71850856 G A SNP FOLR3 ENST00000456237 human ensembl 74_37 +1 known missense c.845 p.R282H 0.001 NULL pfam_Folate_rcpt-like - no_errors FOLR3 HGNC ENSG00000110203 49 0 0 49 14 22.2222 CLPB 0 genome.wustl.edu 37 11 72083976 72083976 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 72083976 72083976 G A SNP CLPB ENST00000294053 human ensembl 74_37 -1 known silent c.729 p.P243 0.870 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,prints_ClpA/B,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CLPB HGNC ENSG00000162129 124 0 0 166 49 22.7907 RELT 0 genome.wustl.edu 37 11 73105600 73105600 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 73105600 73105600 G A SNP RELT ENST00000064780 human ensembl 74_37 +1 known silent c.867 p.S289 0.075 prints_TNFR_19-like pfam_TNF_rcpt_RELT,prints_TNFR_19-like - no_errors RELT HGNC ENSG00000054967 125 0 0 184 32 14.8148 UVRAG 0 genome.wustl.edu 37 11 75852356 75852356 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 75852356 75852356 G A SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.1999 p.E667K 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 84 0 0 95 23 19.4915 TENM4 0 genome.wustl.edu 37 11 78381155 78381155 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 78381155 78381155 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6235 p.A2079T 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 48 0 0 72 10 12.1951 TUB 0 genome.wustl.edu 37 11 8122081 8122081 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 8122081 8122081 G A SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.1313 p.R438Q 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 49 0 0 64 23 26.4368 TUB 0 genome.wustl.edu 37 11 8123105 8123105 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 8123105 8123105 G A SNP TUB ENST00000305253 human ensembl 74_37 +1 known missense c.1625 p.C542Y 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 115 0 0 143 35 19.6629 SYTL2 0 genome.wustl.edu 37 11 85418474 85418474 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 85418474 85418474 G A SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known missense c.4639 p.R1547W 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 137 0 0 147 37 20.1087 NRIP3 0 genome.wustl.edu 37 11 9007341 9007341 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 9007341 9007341 C T SNP NRIP3 ENST00000309166 human ensembl 74_37 -1 known missense c.479 p.R160Q 1.000 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 241 0 0 257 41 13.7584 FAM76B 0 genome.wustl.edu 37 11 95516236 95516236 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 95516236 95516236 G A SNP FAM76B ENST00000358780 human ensembl 74_37 -1 known missense c.556 p.H186Y 1.000 NULL NULL - no_errors FAM76B HGNC ENSG00000077458 56 0 0 56 14 20 AP2A2 0 genome.wustl.edu 37 11 993321 993321 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 993321 993321 A G SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1493 p.K498R 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 27 0 0 46 8 14.8148 SLC17A8 0 genome.wustl.edu 37 12 100774527 100774527 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 100774527 100774527 A T SNP SLC17A8 ENST00000323346 human ensembl 74_37 +1 known missense c.150 p.E50D 0.945 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 244 0 0 228 124 35.2273 ALDH1L2 0 genome.wustl.edu 37 12 105467707 105467707 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 105467707 105467707 C T SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.125 p.R42H 0.999 pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 180 0 0 140 85 37.7778 FAM109A 0 genome.wustl.edu 37 12 111801241 111801241 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 111801241 111801241 C T SNP FAM109A ENST00000361483 human ensembl 74_37 -1 known silent c.30 p.A10 0.001 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FAM109A HGNC ENSG00000198324 30 0 0 24 14 36.8421 HECTD4 0 genome.wustl.edu 37 12 112622701 112622701 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 112622701 112622701 C T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.9553 p.A3185T 0.964 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 67 0 0 52 34 39.5349 TBX5 0 genome.wustl.edu 37 12 114804092 114804092 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 114804092 114804092 A G SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.860 p.L287S 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 164 0 0 112 78 41.0526 CCDC64 0 genome.wustl.edu 37 12 120530903 120530903 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 120530903 120530903 C T SNP CCDC64 ENST00000257583 human ensembl 74_37 +1 known missense c.751 p.R251W 0.982 NULL NULL - no_errors CCDC64 HGNC ENSG00000135127 54 0 0 61 21 25.6098 ABCB9 0 genome.wustl.edu 37 12 123444274 123444274 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 123444274 123444274 G T SNP ABCB9 ENST00000442028 human ensembl 74_37 -1 known missense c.509 p.S170Y 0.988 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB9 HGNC ENSG00000150967 89 0 0 62 34 35.4167 RIMBP2 0 genome.wustl.edu 37 12 130898786 130898786 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 130898786 130898786 C T SNP RIMBP2 ENST00000261655 human ensembl 74_37 -1 known missense c.2536 p.E846K 0.998 superfamily_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain,prints_SH3_domain - no_errors RIMBP2 HGNC ENSG00000060709 117 0 0 94 66 41.25 SFSWAP 0 genome.wustl.edu 37 12 132237851 132237851 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 132237851 132237851 C T SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known missense c.1265 p.P422L 0.986 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 87 0 0 98 25 20.3252 ANKLE2 0 genome.wustl.edu 37 12 133304630 133304630 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 133304630 133304630 G A SNP ANKLE2 ENST00000357997 human ensembl 74_37 -1 known missense c.2603 p.S868L 0.006 NULL pfam_LEM_dom,superfamily_LEM/LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM_dom - no_errors ANKLE2 HGNC ENSG00000176915 316 1 0.315457 358 105 22.6782 PTPRO 0 genome.wustl.edu 37 12 15637007 15637007 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 15637007 15637007 A G SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.175 p.K59E 1.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 100 0 0 109 29 21.0145 AEBP2 0 genome.wustl.edu 37 12 19615474 19615474 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 19615474 19615474 C T SNP AEBP2 ENST00000398864 human ensembl 74_37 +1 known silent c.702 p.S234 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors AEBP2 HGNC ENSG00000139154 21 0 0 31 8 20.5128 SLCO1B7 0 genome.wustl.edu 37 12 21201653 21201653 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 21201653 21201653 C T SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known silent c.1143 p.L381 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 9 0 0 12 3 20 CACNA1C 0 genome.wustl.edu 37 12 2800256 2800256 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 2800256 2800256 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.6521 p.A2174V 0.991 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 27 0 0 33 8 19.5122 ITFG2 0 genome.wustl.edu 37 12 2929276 2929276 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 2929276 2929276 T C SNP ITFG2 ENST00000228799 human ensembl 74_37 +1 known missense c.431 p.V144A 1.000 superfamily_WD40_repeat_dom pfam_FG-GAP,superfamily_WD40_repeat_dom - no_errors ITFG2 HGNC ENSG00000111203 65 0 0 100 19 15.9664 PRMT8 0 genome.wustl.edu 37 12 3678673 3678673 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 3678673 3678673 G A SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known missense c.655 p.A219T 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 126 0 0 128 30 18.9873 PARP11 0 genome.wustl.edu 37 12 3921503 3921503 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 3921503 3921503 C T SNP PARP11 ENST00000228820 human ensembl 74_37 -1 known missense c.803 p.R268Q 1.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC ENSG00000111224 116 1 0.854701 126 16 11.2676 DBX2 0 genome.wustl.edu 37 12 45444539 45444539 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 45444539 45444539 C T SNP DBX2 ENST00000332700 human ensembl 74_37 -1 known missense c.172 p.A58T 0.002 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 10 0 0 3 5 62.5 ARID2 0 genome.wustl.edu 37 12 46211654 46211654 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 46211654 46211654 C T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.620 p.A207V 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 53 0 0 57 11 16.1765 ARID2 0 genome.wustl.edu 37 12 46230382 46230382 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 46230382 46230382 A T SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.716 p.D239V 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID2 HGNC ENSG00000189079 46 0 0 37 14 27.451 COL2A1 0 genome.wustl.edu 37 12 48367966 48367966 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 48367966 48367966 T C SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.4223 p.K1408R 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 111 0 0 115 27 19.0141 KMT2D 0 genome.wustl.edu 37 12 49433849 49433849 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 49433849 49433849 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.7704 p.P2568 0.037 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 39 0 0 51 6 10.5263 SPATS2 0 genome.wustl.edu 37 12 49908349 49908349 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 49908349 49908349 G T SNP SPATS2 ENST00000321898 human ensembl 74_37 +1 known missense c.851 p.R284L 1.000 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 36 0 0 31 4 11.4286 SPATS2 0 genome.wustl.edu 37 12 49918545 49918545 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 49918545 49918545 G A SNP SPATS2 ENST00000321898 human ensembl 74_37 +1 known missense c.1192 p.A398T 0.128 NULL pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2 HGNC ENSG00000123352 205 0 0 229 53 18.7943 FMNL3 0 genome.wustl.edu 37 12 50041505 50041505 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 50041505 50041505 C T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.2759 p.R920Q 0.995 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 108 0 0 96 23 19.3277 KCNA5 0 genome.wustl.edu 37 12 5153999 5153999 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 5153999 5153999 G A SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.686 p.R229H 0.990 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 169 0 0 209 49 18.9922 NR4A1 0 genome.wustl.edu 37 12 52448715 52448715 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 52448715 52448715 C A SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known missense c.765 p.S255R 0.999 prints_Nuc_orp_HMR_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 278 0 0 238 133 35.8491 KRT77 0 genome.wustl.edu 37 12 53091532 53091532 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 53091532 53091532 G A SNP KRT77 ENST00000341809 human ensembl 74_37 -1 known missense c.692 p.A231V 0.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT77 HGNC ENSG00000189182 597 1 0.167224 485 335 40.8537 KRT3 0 genome.wustl.edu 37 12 53189685 53189685 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 53189685 53189685 C T SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.142 p.G48R 0.776 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 90 0 0 94 53 36.0544 TENC1 0 genome.wustl.edu 37 12 53457026 53457026 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 53457026 53457026 C T SNP TENC1 ENST00000314276 human ensembl 74_37 +1 known missense c.4007 p.T1336M 0.999 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 111 0 0 130 23 15.0327 ERBB3 0 genome.wustl.edu 37 12 56478927 56478927 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 56478927 56478927 G A SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.383 p.S128N 0.989 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 217 0 0 173 108 38.4342 ERBB3 0 genome.wustl.edu 37 12 56492521 56492521 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 56492521 56492521 A G SNP ERBB3 ENST00000549832 human ensembl 74_37 +1 putative missense c.31 p.S11G 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 144 0 0 178 36 16.8224 PA2G4 0 genome.wustl.edu 37 12 56505000 56505000 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 56505000 56505000 G A SNP PA2G4 ENST00000303305 human ensembl 74_37 +1 known silent c.972 p.L324 0.998 superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1 - no_errors PA2G4 HGNC ENSG00000170515 116 0 0 88 54 38.0282 PAN2 0 genome.wustl.edu 37 12 56721843 56721843 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 56721843 56721843 G A SNP PAN2 ENST00000425394 human ensembl 74_37 -1 known missense c.587 p.T196M 0.047 superfamily_WD40_repeat_dom pfam_Exonuclease_RNaseT/DNA_pol3,pfam_Peptidase_C19/C67,superfamily_RNaseH-like_dom,superfamily_WD40_repeat_dom,smart_Exonuclease,pfscan_Peptidase_C19/C67 - no_errors PAN2 HGNC ENSG00000135473 81 0 0 52 23 30.6667 BAZ2A 0 genome.wustl.edu 37 12 56995599 56995599 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 56995599 56995599 G T SNP BAZ2A ENST00000551812 human ensembl 74_37 -1 known missense c.3808 p.L1270M 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC ENSG00000076108 141 0 0 172 15 8.02139 R3HDM2 0 genome.wustl.edu 37 12 57663593 57663593 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 57663593 57663593 T C SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.1487 p.H496R 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 77 0 0 94 22 18.9655 TMEM5 0 genome.wustl.edu 37 12 64196138 64196138 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 64196138 64196138 C T SNP TMEM5 ENST00000261234 human ensembl 74_37 +1 known silent c.696 p.P232 0.487 NULL pfam_Exostosin - no_errors TMEM5 HGNC ENSG00000118600 122 1 0.813008 140 32 18.6047 ZNF384 0 genome.wustl.edu 37 12 6776956 6776956 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 6776956 6776956 G A SNP ZNF384 ENST00000361959 human ensembl 74_37 -1 known missense c.1658 p.T553M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF384 HGNC ENSG00000126746 288 0 0 318 81 20.3008 CPSF6 0 genome.wustl.edu 37 12 69656202 69656202 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 69656202 69656202 C T SNP CPSF6 ENST00000266679 human ensembl 74_37 +1 known nonsense c.1630 p.R544* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF6 HGNC ENSG00000111605 115 0 0 103 36 25.8993 ACSM4 0 genome.wustl.edu 37 12 7463150 7463150 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 7463150 7463150 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.428 p.P143L 0.992 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 14 0 0 13 4 23.5294 LRRIQ1 0 genome.wustl.edu 37 12 85546106 85546106 + Missense_Mutation SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 85546106 85546106 T A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.4378 p.S1460T 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 113 0 0 93 52 35.8621 TMCC3 0 genome.wustl.edu 37 12 94976112 94976112 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 94976112 94976112 G T SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.281 p.A94E 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 231 0 0 213 117 35.4545 CLEC2D 0 genome.wustl.edu 37 12 9847427 9847427 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 9847427 9847427 C T SNP CLEC2D ENST00000290855 human ensembl 74_37 +1 known missense c.533 p.T178I 0.177 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2D HGNC ENSG00000069493 77 0 0 78 16 17.0213 TPP2 0 genome.wustl.edu 37 13 103289546 103289546 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 103289546 103289546 G A SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.1793 p.R598H 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 79 0 0 96 20 17.2414 FAM155A 0 genome.wustl.edu 37 13 108518636 108518636 + Missense_Mutation SNP C C G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 108518636 108518636 C G SNP FAM155A ENST00000375915 human ensembl 74_37 -1 known missense c.309 p.W103C 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 19 0 0 37 8 17.7778 MCF2L 0 genome.wustl.edu 37 13 113699074 113699074 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 113699074 113699074 G A SNP MCF2L ENST00000397021 human ensembl 74_37 +1 putative silent c.36 p.P12 0.000 NULL NULL - no_errors MCF2L HGNC ENSG00000126217 37 0 0 47 11 18.9655 F10 0 genome.wustl.edu 37 13 113793678 113793678 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 113793678 113793678 C T SNP F10 ENST00000375559 human ensembl 74_37 +1 known silent c.264 p.D88 1.000 pirsf_Pept_S1A_FX,superfamily_GLA_domain,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 52 0 0 56 15 21.1268 TFDP1 0 genome.wustl.edu 37 13 114292018 114292018 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 114292018 114292018 C T SNP TFDP1 ENST00000544902 human ensembl 74_37 +1 known missense c.805 p.R269W 0.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 11 0 0 24 7 22.5806 GAS6 0 genome.wustl.edu 37 13 114525103 114525103 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 114525103 114525103 G A SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known silent c.1839 p.C613 0.979 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 19 0 0 18 3 14.2857 TNFRSF19 0 genome.wustl.edu 37 13 24234605 24234605 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 24234605 24234605 C T SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.712 p.R238C 0.896 NULL smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 54 0 0 46 21 31.3433 CENPJ 0 genome.wustl.edu 37 13 25487066 25487066 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 25487066 25487066 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.98 p.R33H 1.000 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 94 0 0 119 32 21.1921 SHISA2 0 genome.wustl.edu 37 13 26621193 26621193 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 26621193 26621193 C T SNP SHISA2 ENST00000319420 human ensembl 74_37 -1 known missense c.346 p.V116M 1.000 NULL NULL - no_errors SHISA2 HGNC ENSG00000180730 46 0 0 73 13 15.1163 MTUS2 0 genome.wustl.edu 37 13 29599208 29599208 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 29599208 29599208 C T SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.403 p.R135W 0.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 121 0 0 166 21 11.2299 FRY 0 genome.wustl.edu 37 13 32792901 32792901 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 32792901 32792901 C A SNP FRY ENST00000380250 human ensembl 74_37 +1 known silent c.4698 p.I1566 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 47 0 0 68 11 13.9241 PDS5B 0 genome.wustl.edu 37 13 33344618 33344618 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 33344618 33344618 A G SNP PDS5B ENST00000315596 human ensembl 74_37 +1 known silent c.3984 p.E1328 0.058 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 45 0 0 74 15 16.8539 KL 0 genome.wustl.edu 37 13 33590992 33590992 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 33590992 33590992 G A SNP KL ENST00000380099 human ensembl 74_37 +1 known silent c.414 p.A138 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC ENSG00000133116 32 0 0 40 12 23.0769 SERTM1 0 genome.wustl.edu 37 13 37269458 37269458 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 37269458 37269458 C T SNP SERTM1 ENST00000315190 human ensembl 74_37 +1 known silent c.243 p.S81 0.953 NULL NULL - no_errors SERTM1 HGNC ENSG00000180440 183 0 0 217 56 20.5128 FNDC3A 0 genome.wustl.edu 37 13 49705293 49705293 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 49705293 49705293 T C SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known silent c.273 p.V91 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 143 0 0 182 46 20.1754 CCDC70 0 genome.wustl.edu 37 13 52439593 52439593 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 52439593 52439593 C T SNP CCDC70 ENST00000242819 human ensembl 74_37 +1 known missense c.79 p.R27W 0.323 NULL NULL - no_errors CCDC70 HGNC ENSG00000123171 100 0 0 123 22 15.1724 PIBF1 0 genome.wustl.edu 37 13 73369627 73369627 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 73369627 73369627 A G SNP PIBF1 ENST00000326291 human ensembl 74_37 +1 known missense c.484 p.T162A 0.985 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 114 0 0 112 34 23.2877 MYCBP2 0 genome.wustl.edu 37 13 77672645 77672645 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 77672645 77672645 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.8644 p.R2882C 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 105 0 0 139 35 20.1149 MYCBP2 0 genome.wustl.edu 37 13 77714270 77714270 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 77714270 77714270 G A SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.7430 p.A2477V 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 64 0 0 66 15 18.5185 MYCBP2 0 genome.wustl.edu 37 13 77779485 77779485 + Nonsense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 77779485 77779485 G T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known nonsense c.3749 p.S1250* 1.000 pfam_PHR,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 127 1 0.78125 122 37 23.2704 MYCBP2 0 genome.wustl.edu 37 13 77807400 77807400 + Splice_Site SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 77807400 77807400 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known splice_site c.2630-2 e18-2 1.000 - - - no_errors MYCBP2 HGNC ENSG00000005810 125 0 0 165 47 22.1698 SCEL-AS1 0 genome.wustl.edu 37 13 78173930 78173930 + RNA SNP G G C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 78173930 78173930 G C SNP SCEL-AS1 ENST00000457528 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SCEL-AS1 HGNC ENSG00000224347 37 0 0 46 19 29.2308 SLITRK1 0 genome.wustl.edu 37 13 84454312 84454312 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 84454312 84454312 G A SNP SLITRK1 ENST00000377084 human ensembl 74_37 -1 known missense c.1331 p.A444V 0.987 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC ENSG00000178235 159 0 0 177 40 18.4332 MIR17HG 0 genome.wustl.edu 37 13 92003501 92003501 + RNA SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 92003501 92003501 T C SNP MIR17HG ENST00000384829 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR17HG HGNC ENSG00000215417 200 0 0 221 51 18.75 UGGT2 0 genome.wustl.edu 37 13 96589280 96589280 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 96589280 96589280 A G SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known silent c.1875 p.G625 1.000 NULL pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 160 0 0 175 42 19.3548 MBNL2 0 genome.wustl.edu 37 13 97999281 97999281 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 97999281 97999281 C T SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.764 p.A255V 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 36 0 0 23 12 34.2857 IPO5 0 genome.wustl.edu 37 13 98664543 98664543 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 98664543 98664543 C T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.2153 p.T718I 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 195 0 0 186 39 17.3333 WARS 0 genome.wustl.edu 37 14 100801346 100801346 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 100801346 100801346 C T SNP WARS ENST00000355338 human ensembl 74_37 -1 known missense c.1282 p.G428S 0.998 pfam_aa-tRNA-synth_Ic,tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC ENSG00000140105 75 0 0 85 15 15 MIR323B 0 genome.wustl.edu 37 14 101522631 101522631 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 101522631 101522631 G A SNP MIR323B ENST00000385269 human ensembl 74_37 +1 known rna NULL NULL 0.950 - - - no_errors MIR323B HGNC ENSG00000208004 30 0 0 22 9 29.0323 DIO3OS 0 genome.wustl.edu 37 14 102026643 102026643 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 102026643 102026643 G A SNP DIO3OS ENST00000408206 human ensembl 74_37 -1 known rna NULL NULL 0.938 - - - no_errors DIO3OS HGNC ENSG00000258498 15 0 0 24 5 17.2414 PPP1R13B 0 genome.wustl.edu 37 14 104201496 104201496 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 104201496 104201496 C T SNP PPP1R13B ENST00000202556 human ensembl 74_37 -1 known missense c.3268 p.A1090T 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 88 0 0 74 16 17.7778 AHNAK2 0 genome.wustl.edu 37 14 105414292 105414292 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 105414292 105414292 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.7496 p.G2499D 0.116 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 386 2 0.515464 427 82 16.11 BRF1 0 genome.wustl.edu 37 14 105685344 105685344 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 105685344 105685344 C A SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.1506 p.K502N 1.000 pfam_BRF1_TBP-bd pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 232 0 0 252 74 22.6994 BRF1 0 genome.wustl.edu 37 14 105739058 105739058 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 105739058 105739058 G A SNP BRF1 ENST00000546474 human ensembl 74_37 -1 known missense c.439 p.H147Y 0.999 pfam_TFIIB_cyclin,superfamily_Cyclin-like,smart_Cyclin-like,prints_TFIIB pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 76 0 0 71 25 26.0417 TEP1 0 genome.wustl.edu 37 14 20850088 20850088 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 20850088 20850088 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.4408 p.V1470I 0.989 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 155 0 0 173 47 21.3636 ECRP 0 genome.wustl.edu 37 14 21388395 21388395 + RNA SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 21388395 21388395 A G SNP ECRP ENST00000555624 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-84C10.2 Clone_based_vega_gene ENSG00000136315 52 0 0 72 15 17.2414 ABHD4 0 genome.wustl.edu 37 14 23072897 23072897 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 23072897 23072897 C T SNP ABHD4 ENST00000428304 human ensembl 74_37 +1 known missense c.553 p.R185C 0.999 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1 - no_errors ABHD4 HGNC ENSG00000100439 186 0 0 188 54 22.314 IRF9 0 genome.wustl.edu 37 14 24632182 24632182 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 24632182 24632182 C A SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known missense c.188 p.A63E 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 51 0 0 47 15 24.1935 NPAS3 0 genome.wustl.edu 37 14 34269189 34269189 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 34269189 34269189 G A SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.1676 p.R559H 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 54 0 0 54 9 14.2857 BRMS1L 0 genome.wustl.edu 37 14 36302264 36302264 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 36302264 36302264 C T SNP BRMS1L ENST00000216807 human ensembl 74_37 +1 known missense c.314 p.P105L 1.000 pfam_Sds3 pfam_Sds3 - no_errors BRMS1L HGNC ENSG00000100916 32 0 0 32 9 21.9512 BRMS1L 0 genome.wustl.edu 37 14 36304094 36304094 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 36304094 36304094 G A SNP BRMS1L ENST00000216807 human ensembl 74_37 +1 known missense c.406 p.E136K 1.000 pfam_Sds3 pfam_Sds3 - no_errors BRMS1L HGNC ENSG00000100916 72 0 0 74 13 14.9425 TTC6 0 genome.wustl.edu 37 14 38295439 38295439 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 38295439 38295439 A G SNP TTC6 ENST00000478811 human ensembl 74_37 +1 known missense c.1207 p.I403V 0.323 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 159 0 0 145 30 17.1429 FANCM 0 genome.wustl.edu 37 14 45605364 45605364 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 45605364 45605364 G A SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.130 p.A44T 0.325 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 95 0 0 129 24 15.6863 MDGA2 0 genome.wustl.edu 37 14 47314993 47314993 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 47314993 47314993 C T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.2965 p.A989T 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 63 0 0 76 13 14.6067 POLE2 0 genome.wustl.edu 37 14 50122404 50122404 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 50122404 50122404 G A SNP POLE2 ENST00000216367 human ensembl 74_37 -1 known missense c.913 p.R305C 1.000 pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_e_bsu pfam_DNA_pol_alpha/epsilon_bsu,pfam_DNA_pol_e_bsu_N,pirsf_DNA_pol_e_bsu - no_errors POLE2 HGNC ENSG00000100479 281 0 0 324 59 15.4047 OTX2 0 genome.wustl.edu 37 14 57271048 57271048 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 57271048 57271048 C T SNP OTX2 ENST00000339475 human ensembl 74_37 -1 known missense c.131 p.R44Q 1.000 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 69 0 0 88 17 16.1905 DACT1 0 genome.wustl.edu 37 14 59113480 59113480 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 59113480 59113480 C T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.2139 p.Y713 0.001 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 73 0 0 87 25 22.3214 L3HYPDH 0 genome.wustl.edu 37 14 59950671 59950671 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 59950671 59950671 G A SNP L3HYPDH ENST00000247194 human ensembl 74_37 -1 known missense c.364 p.P122S 0.981 pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam - no_errors L3HYPDH HGNC ENSG00000126790 9 0 0 19 4 17.3913 C14orf39 0 genome.wustl.edu 37 14 60923730 60923730 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 60923730 60923730 C T SNP C14orf39 ENST00000321731 human ensembl 74_37 -1 known silent c.1263 p.T421 0.998 NULL NULL - no_errors C14orf39 HGNC ENSG00000179008 319 0 0 327 57 14.8438 PPP2R5E 0 genome.wustl.edu 37 14 63848863 63848863 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 63848863 63848863 C T SNP PPP2R5E ENST00000337537 human ensembl 74_37 -1 known silent c.1215 p.A405 0.001 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5E HGNC ENSG00000154001 53 0 0 58 12 17.1429 ZBTB25 0 genome.wustl.edu 37 14 64954669 64954669 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 64954669 64954669 G A SNP ZBTB25 ENST00000394715 human ensembl 74_37 -1 known missense c.280 p.R94C 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB25 HGNC ENSG00000089775 124 0 0 142 44 23.6559 HSPA2 0 genome.wustl.edu 37 14 65008770 65008770 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 65008770 65008770 G A SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known silent c.1203 p.P401 0.214 pfam_Hsp_70_fam,prints_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 108 0 0 141 35 19.8864 PAPLN 0 genome.wustl.edu 37 14 73718431 73718431 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 73718431 73718431 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.730 p.R244W 0.991 pfam_ADAM_spacer1 pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 88 0 0 123 31 20.1299 ACOT1 0 genome.wustl.edu 37 14 74009849 74009849 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 74009849 74009849 C T SNP ACOT1 ENST00000311148 human ensembl 74_37 +1 known silent c.756 p.V252 0.000 pfam_BAAT_C,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pfam_Dienelactn_hydro,pirsf_Acyl-CoA_thioEstase_long-chain - no_errors ACOT1 HGNC ENSG00000184227 74 0 0 84 30 26.3158 IFT43 0 genome.wustl.edu 37 14 76548898 76548898 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 76548898 76548898 G A SNP IFT43 ENST00000553438 human ensembl 74_37 +1 putative rna NULL NULL 0.008 - - - no_errors IFT43 HGNC ENSG00000119650 54 0 0 74 18 19.5652 ZC3H14 0 genome.wustl.edu 37 14 89075670 89075670 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 89075670 89075670 A G SNP ZC3H14 ENST00000251038 human ensembl 74_37 +1 known missense c.1928 p.Y643C 0.999 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 125 0 0 139 29 17.2619 UNC79 0 genome.wustl.edu 37 14 94088364 94088364 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 94088364 94088364 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.4851 p.S1617 0.675 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 130 0 0 154 50 24.5098 CLMN 0 genome.wustl.edu 37 14 95688092 95688092 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 95688092 95688092 G A SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.260 p.S87L 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 100 0 0 85 26 23.4234 PAPOLA 0 genome.wustl.edu 37 14 96986562 96986562 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 96986562 96986562 G A SNP PAPOLA ENST00000216277 human ensembl 74_37 +1 known missense c.179 p.R60H 1.000 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 113 0 0 132 38 22.3529 SNHG14 0 genome.wustl.edu 37 15 25425477 25425477 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 25425477 25425477 G A SNP SNHG14 ENST00000441592 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 33 0 0 31 10 24.3902 GABRB3 0 genome.wustl.edu 37 15 26793063 26793063 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 26793063 26793063 T C SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.1299 p.S433 0.149 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 98 0 0 121 24 16.5517 GABRB3 0 genome.wustl.edu 37 15 26812789 26812789 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 26812789 26812789 C T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.774 p.T258 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 113 0 0 124 31 20 HERC2 0 genome.wustl.edu 37 15 28474714 28474714 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 28474714 28474714 C A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.5012 p.G1671V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 223 1 0.446429 258 68 20.8589 HERC2 0 genome.wustl.edu 37 15 28510807 28510807 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 28510807 28510807 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.1827 p.A609 0.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 128 0 0 141 27 16.0714 SCG5 0 genome.wustl.edu 37 15 32988792 32988792 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 32988792 32988792 G A SNP SCG5 ENST00000300175 human ensembl 74_37 +1 known silent c.621 p.E207 0.994 NULL pfam_Secretogranin_V - no_errors SCG5 HGNC ENSG00000166922 36 0 0 29 8 21.6216 RYR3 0 genome.wustl.edu 37 15 34072445 34072445 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 34072445 34072445 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.9171 p.S3057 0.002 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 28 0 0 33 8 19.5122 C15orf52 0 genome.wustl.edu 37 15 40630070 40630070 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 40630070 40630070 G A SNP C15orf52 ENST00000559313 human ensembl 74_37 -1 known missense c.670 p.P224S 0.006 NULL NULL - no_errors C15orf52 HGNC ENSG00000188549 27 0 0 30 10 25 DNAJC17 0 genome.wustl.edu 37 15 41066555 41066555 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 41066555 41066555 G A SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known missense c.680 p.A227V 1.000 pfam_RRM_dom pfam_DnaJ_domain,pfam_RRM_dom,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC17 HGNC ENSG00000104129 324 1 0.307692 338 79 18.9448 DLL4 0 genome.wustl.edu 37 15 41227195 41227195 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 41227195 41227195 G A SNP DLL4 ENST00000249749 human ensembl 74_37 +1 known missense c.1120 p.G374R 1.000 pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC ENSG00000128917 112 0 0 139 28 16.7665 MAPKBP1 0 genome.wustl.edu 37 15 42116010 42116010 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 42116010 42116010 C T SNP MAPKBP1 ENST00000456763 human ensembl 74_37 +1 known missense c.3982 p.P1328S 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MAPKBP1 HGNC ENSG00000137802 147 0 0 210 45 17.6471 GANC 0 genome.wustl.edu 37 15 42570682 42570682 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 42570682 42570682 G A SNP GANC ENST00000318010 human ensembl 74_37 +1 known missense c.95 p.R32H 1.000 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANC HGNC ENSG00000214013 86 0 0 121 19 13.5714 ZNF106 0 genome.wustl.edu 37 15 42717097 42717097 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 42717097 42717097 C T SNP ZNF106 ENST00000263805 human ensembl 74_37 -1 known missense c.5056 p.D1686N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZNF106 HGNC ENSG00000103994 70 0 0 61 19 23.75 CATSPER2 0 genome.wustl.edu 37 15 43925050 43925050 + Nonsense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 43925050 43925050 C A SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known nonsense c.1261 p.E421* 0.001 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 53 0 0 43 23 34.8485 DUOX2 0 genome.wustl.edu 37 15 45401073 45401073 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 45401073 45401073 G T SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.1312 p.L438M 0.961 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,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 93 0 0 128 36 21.9512 WDR72 0 genome.wustl.edu 37 15 53992122 53992122 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 53992122 53992122 A G SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.1590 p.I530 0.362 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 141 0 0 174 38 17.9245 ZNF280D 0 genome.wustl.edu 37 15 56974620 56974620 + Nonsense_Mutation SNP G G C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 56974620 56974620 G C SNP ZNF280D ENST00000267807 human ensembl 74_37 -1 known nonsense c.836 p.S279* 0.980 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 80 0 0 57 3 5 GCOM1 0 genome.wustl.edu 37 15 57918078 57918078 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 57918078 57918078 C A SNP GCOM1 ENST00000380569 human ensembl 74_37 +1 known silent c.513 p.S171 0.967 NULL NULL - no_errors GCOM1 HGNC ENSG00000137878 58 0 0 86 14 14 ALDH1A2 0 genome.wustl.edu 37 15 58287308 58287308 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 58287308 58287308 C T SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.523 p.E175K 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 247 0 0 260 60 18.75 ALDH1A2 0 genome.wustl.edu 37 15 58357786 58357786 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 58357786 58357786 C T SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known silent c.63 p.A21 1.000 superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 57 0 0 57 20 25.974 HERC1 0 genome.wustl.edu 37 15 63966684 63966684 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 63966684 63966684 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.7703 p.R2568Q 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 43 0 0 58 9 13.4328 ISLR2 0 genome.wustl.edu 37 15 74426801 74426801 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 74426801 74426801 C T SNP ISLR2 ENST00000361742 human ensembl 74_37 +1 known missense c.1706 p.A569V 1.000 superfamily_Fibronectin_type3 pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like_dom - no_errors ISLR2 HGNC ENSG00000167178 29 0 0 36 7 16.2791 STRA6 0 genome.wustl.edu 37 15 74473191 74473191 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 74473191 74473191 G A SNP STRA6 ENST00000563965 human ensembl 74_37 -1 known missense c.1889 p.A630V 0.021 NULL NULL - no_errors STRA6 HGNC ENSG00000137868 155 0 0 168 38 18.4466 CLK3 0 genome.wustl.edu 37 15 74912421 74912421 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 74912421 74912421 G A SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.668 p.R223Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 240 0 0 278 83 22.9917 CSPG4 0 genome.wustl.edu 37 15 75980305 75980305 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 75980305 75980305 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3101 p.R1034Q 0.997 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 69 0 0 100 29 22.4806 CSPG4 0 genome.wustl.edu 37 15 75980366 75980366 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 75980366 75980366 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3040 p.V1014M 0.418 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 98 0 0 119 28 19.0476 FBXO22 0 genome.wustl.edu 37 15 76225165 76225165 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 76225165 76225165 G A SNP FBXO22 ENST00000308275 human ensembl 74_37 +1 known missense c.934 p.A312T 0.997 pfam_FIST_C_domain pfam_FIST_C_domain,pfam_F-box_dom,superfamily_F-box_dom - no_errors FBXO22 HGNC ENSG00000167196 110 0 0 144 27 15.7895 C15orf27 0 genome.wustl.edu 37 15 76430103 76430103 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 76430103 76430103 G A SNP C15orf27 ENST00000388942 human ensembl 74_37 +1 known missense c.94 p.E32K 0.992 NULL NULL - no_errors C15orf27 HGNC ENSG00000169758 234 0 0 253 53 17.3203 ISL2 0 genome.wustl.edu 37 15 76632885 76632885 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 76632885 76632885 G A SNP ISL2 ENST00000558656 human ensembl 74_37 +1 known missense c.517 p.A173T 0.993 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ISL2 HGNC ENSG00000159556 47 0 0 56 14 20 LOC645752 0 genome.wustl.edu 37 15 78219094 78219094 + RNA SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 78219094 78219094 A T SNP LOC645752 ENST00000567226 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene ENSG00000260776 68 0 0 68 19 21.8391 TBC1D2B 0 genome.wustl.edu 37 15 78295700 78295700 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 78295700 78295700 C T SNP TBC1D2B ENST00000300584 human ensembl 74_37 -1 known missense c.2521 p.V841I 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Prefoldin,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2B HGNC ENSG00000167202 59 0 0 87 19 17.9245 ENSG00000261303 0 genome.wustl.edu 37 15 79026027 79026027 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 79026027 79026027 G A SNP ENSG00000261303 ENST00000568337 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-160C18.2 Clone_based_vega_gene ENSG00000261303 42 0 0 62 14 18.4211 TMED3 0 genome.wustl.edu 37 15 79603625 79603625 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 79603625 79603625 C T SNP TMED3 ENST00000299705 human ensembl 74_37 +1 known silent c.34 p.L12 0.946 NULL pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED3 HGNC ENSG00000166557 23 0 0 21 9 30 KIAA1024 0 genome.wustl.edu 37 15 79748713 79748713 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 79748713 79748713 A G SNP KIAA1024 ENST00000305428 human ensembl 74_37 +1 known missense c.224 p.N75S 0.843 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 126 0 0 167 9 5.11364 ABHD17C 0 genome.wustl.edu 37 15 81046586 81046586 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 81046586 81046586 G A SNP ABHD17C ENST00000258884 human ensembl 74_37 +1 known missense c.865 p.E289K 1.000 pfam_Peptidase_S9,pfam_Dienelactn_hydro pfam_Peptidase_S9,pfam_Dienelactn_hydro - no_errors ABHD17C HGNC ENSG00000136379 75 0 0 77 14 15.3846 EFTUD1 0 genome.wustl.edu 37 15 82443816 82443816 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 82443816 82443816 A G SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known silent c.2979 p.G993 0.015 pfam_EFG_V,superfamily_EFG_III-V,smart_EFG_V pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 127 0 0 189 36 16 AKAP13 0 genome.wustl.edu 37 15 86286871 86286871 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 86286871 86286871 G T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known missense c.8219 p.R2740L 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 305 0 0 346 70 16.8269 DET1 0 genome.wustl.edu 37 15 89074383 89074383 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 89074383 89074383 C T SNP DET1 ENST00000444300 human ensembl 74_37 -1 known missense c.587 p.R196Q 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 69 0 0 74 13 14.9425 ZNF710 0 genome.wustl.edu 37 15 90611774 90611774 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 90611774 90611774 G A SNP ZNF710 ENST00000268154 human ensembl 74_37 +1 known missense c.1405 p.G469S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 242 0 0 261 75 22.3214 SLCO3A1 0 genome.wustl.edu 37 15 92459652 92459652 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 92459652 92459652 G A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.610 p.D204N 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 32 0 0 36 8 18.1818 MYH11 0 genome.wustl.edu 37 16 15797971 15797971 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 15797971 15797971 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known silent c.5817 p.N1939 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 187 0 0 222 69 23.7113 ABCC6 0 genome.wustl.edu 37 16 16263538 16263538 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 16263538 16263538 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known missense c.2960 p.R987H 0.988 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 34 0 0 37 10 21.2766 GPR139 0 genome.wustl.edu 37 16 20084882 20084882 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 20084882 20084882 G A SNP GPR139 ENST00000570682 human ensembl 74_37 -1 known silent c.57 p.P19 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 27 0 0 34 10 22.7273 TBL3 0 genome.wustl.edu 37 16 2025196 2025196 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 2025196 2025196 G A SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known missense c.644 p.R215H 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 156 0 0 182 37 16.895 UMOD 0 genome.wustl.edu 37 16 20352615 20352615 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 20352615 20352615 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.1474 p.R492W 0.966 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 88 0 0 106 22 17.1875 UMOD 0 genome.wustl.edu 37 16 20357449 20357449 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 20357449 20357449 G A SNP UMOD ENST00000424589 human ensembl 74_37 -1 known missense c.1280 p.T427M 0.999 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_EG-like_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors UMOD HGNC ENSG00000169344 68 0 0 74 9 10.8434 ACSM3 0 genome.wustl.edu 37 16 20796389 20796389 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 20796389 20796389 C T SNP ACSM3 ENST00000289416 human ensembl 74_37 +1 known missense c.1103 p.T368M 0.985 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 133 0 0 126 34 21.25 DNAH3 0 genome.wustl.edu 37 16 21117878 21117878 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 21117878 21117878 T C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.2217 p.K739 0.985 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 55 0 0 105 19 15.3226 ERN2 0 genome.wustl.edu 37 16 23717746 23717746 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 23717746 23717746 G A SNP ERN2 ENST00000256797 human ensembl 74_37 -1 known missense c.638 p.T213M 1.000 superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat pfam_KEN_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_PQQ_beta_propeller_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PUG-dom,pfscan_Prot_kinase_dom - no_errors ERN2 HGNC ENSG00000134398 12 0 0 7 2 22.2222 PRKCB 0 genome.wustl.edu 37 16 24185846 24185846 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 24185846 24185846 G A SNP PRKCB ENST00000303531 human ensembl 74_37 +1 known missense c.1339 p.A447T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_C2_dom - no_errors PRKCB HGNC ENSG00000166501 83 0 0 120 20 14.2857 RBBP6 0 genome.wustl.edu 37 16 24580149 24580149 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 24580149 24580149 G A SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.2138 p.R713H 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 123 0 0 147 40 21.3904 RBBP6 0 genome.wustl.edu 37 16 24583099 24583099 + Missense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 24583099 24583099 A C SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.4712 p.K1571T 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 127 1 0.78125 145 42 22.4599 TBC1D24 0 genome.wustl.edu 37 16 2546755 2546755 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 2546755 2546755 G A SNP TBC1D24 ENST00000293970 human ensembl 74_37 +1 known silent c.606 p.S202 0.019 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc - no_errors TBC1D24 HGNC ENSG00000162065 58 0 0 70 16 18.6047 SRRM2 0 genome.wustl.edu 37 16 2809396 2809396 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 2809396 2809396 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known nonsense c.733 p.R245* 0.991 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 95 0 0 98 23 19.0083 TUFM 0 genome.wustl.edu 37 16 28855746 28855746 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 28855746 28855746 C T SNP TUFM ENST00000313511 human ensembl 74_37 -1 known missense c.811 p.V271I 0.732 superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,tigrfam_Transl_elong_EFTu/EF1A_bac/org pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 99 0 0 102 21 17.0732 PAQR4 0 genome.wustl.edu 37 16 3021597 3021597 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 3021597 3021597 C T SNP PAQR4 ENST00000318782 human ensembl 74_37 +1 known missense c.470 p.S157L 0.996 pfam_HlyIII-related pfam_HlyIII-related - no_errors PAQR4 HGNC ENSG00000162073 122 0 0 139 39 21.9101 ITGAL 0 genome.wustl.edu 37 16 30507511 30507511 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 30507511 30507511 G A SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1597 p.G533S 0.996 pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 256 1 0.389105 311 51 14.0884 ZNF764 0 genome.wustl.edu 37 16 30566999 30566999 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 30566999 30566999 G A SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known missense c.743 p.S248L 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 ZNF764 HGNC ENSG00000169951 11 0 0 9 4 30.7692 ZNF785 0 genome.wustl.edu 37 16 30594406 30594406 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 30594406 30594406 G A SNP ZNF785 ENST00000395216 human ensembl 74_37 -1 known silent c.693 p.P231 0.050 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 ZNF785 HGNC ENSG00000197162 58 0 0 71 25 26.0417 HSD3B7 0 genome.wustl.edu 37 16 30999391 30999391 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 30999391 30999391 G A SNP HSD3B7 ENST00000297679 human ensembl 74_37 +1 known missense c.997 p.V333I 1.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 62 0 0 63 13 17.1053 TRIM72 0 genome.wustl.edu 37 16 31235536 31235536 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 31235536 31235536 G A SNP TRIM72 ENST00000322122 human ensembl 74_37 +1 known silent c.894 p.A298 0.978 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM72 HGNC ENSG00000177238 47 0 0 58 17 22.6667 ZSCAN10 0 genome.wustl.edu 37 16 3139113 3139113 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 3139113 3139113 G A SNP ZSCAN10 ENST00000252463 human ensembl 74_37 -1 known silent c.2157 p.H719 0.845 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN10 HGNC ENSG00000130182 20 0 0 31 11 26.1905 ZNF263 0 genome.wustl.edu 37 16 3339480 3339480 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 3339480 3339480 G A SNP ZNF263 ENST00000219069 human ensembl 74_37 +1 known missense c.974 p.R325Q 0.002 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF263 HGNC ENSG00000006194 135 0 0 172 38 18.0952 DNASE1 0 genome.wustl.edu 37 16 3712984 3712984 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 3712984 3712984 C T SNP DNASE1 ENST00000575152 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DNASE1 HGNC ENSG00000213918 27 0 0 33 6 15.3846 HMOX2 0 genome.wustl.edu 37 16 4555534 4555534 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 4555534 4555534 G A SNP HMOX2 ENST00000219700 human ensembl 74_37 +1 known silent c.9 p.A3 0.000 NULL pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX2 HGNC ENSG00000103415 18 0 0 29 6 17.1429 DECR2 0 genome.wustl.edu 37 16 461481 461481 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 461481 461481 C T SNP DECR2 ENST00000219481 human ensembl 74_37 +1 known missense c.782 p.T261M 0.999 smart_PKS/FAS_KR,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR - no_errors DECR2 HGNC ENSG00000242612 100 0 0 104 31 22.963 ITFG1 0 genome.wustl.edu 37 16 47294490 47294490 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 47294490 47294490 G A SNP ITFG1 ENST00000320640 human ensembl 74_37 -1 known missense c.1187 p.A396V 1.000 NULL NULL - no_errors ITFG1 HGNC ENSG00000129636 182 0 0 198 41 17.1548 GLYR1 0 genome.wustl.edu 37 16 4861191 4861191 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 4861191 4861191 T C SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.1567 p.M523V 0.997 superfamily_6-PGluconate_DH_C-like pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 150 0 0 194 48 19.8347 ZNF423 0 genome.wustl.edu 37 16 49671946 49671946 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 49671946 49671946 C T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known missense c.1117 p.D373N 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 57 0 0 57 12 17.3913 ZNF423 0 genome.wustl.edu 37 16 49672418 49672418 + Silent SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 49672418 49672418 G T SNP ZNF423 ENST00000262383 human ensembl 74_37 -1 known silent c.645 p.T215 0.902 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ENSG00000102935 94 0 0 113 12 9.6 ADCY7 0 genome.wustl.edu 37 16 50325704 50325704 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 50325704 50325704 C T SNP ADCY7 ENST00000254235 human ensembl 74_37 +1 known missense c.433 p.R145W 0.360 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 52 0 0 60 14 18.9189 NOD2 0 genome.wustl.edu 37 16 50745284 50745284 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 50745284 50745284 T C SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known missense c.1462 p.F488L 1.000 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 190 0 0 234 63 21.2121 CHD9 0 genome.wustl.edu 37 16 53272439 53272439 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 53272439 53272439 G T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.2818 p.G940W 1.000 pfam_SNF2_N,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 280 0 0 284 65 18.6246 IRX6 0 genome.wustl.edu 37 16 55363164 55363164 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 55363164 55363164 C T SNP IRX6 ENST00000290552 human ensembl 74_37 +1 known missense c.1274 p.A425V 0.964 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX6 HGNC ENSG00000159387 107 0 0 112 38 25.3333 NLRC5 0 genome.wustl.edu 37 16 57092032 57092032 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 57092032 57092032 C T SNP NLRC5 ENST00000262510 human ensembl 74_37 +1 known missense c.3802 p.P1268S 0.731 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 11 0 0 12 5 29.4118 CDH8 0 genome.wustl.edu 37 16 61689517 61689517 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 61689517 61689517 C T SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1763 p.S588N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 85 0 0 92 29 23.9669 EXOC3L1 0 genome.wustl.edu 37 16 67221273 67221273 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 67221273 67221273 G T SNP EXOC3L1 ENST00000314586 human ensembl 74_37 -1 known missense c.895 p.P299T 1.000 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC ENSG00000179044 42 0 0 67 15 18.2927 AGRP 0 genome.wustl.edu 37 16 67517002 67517002 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 67517002 67517002 G A SNP AGRP ENST00000290953 human ensembl 74_37 -1 known missense c.142 p.R48W 0.000 pfam_Agouti,smart_Agouti pfam_Agouti,superfamily_Agouti_dom,smart_Agouti,pfscan_Agouti_dom - no_errors AGRP HGNC ENSG00000159723 133 0 0 167 38 18.5366 RLTPR 0 genome.wustl.edu 37 16 67683500 67683500 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 67683500 67683500 C A SNP RLTPR ENST00000334583 human ensembl 74_37 +1 known missense c.1897 p.L633M 0.988 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 29 0 0 42 15 26.3158 GFOD2 0 genome.wustl.edu 37 16 67709348 67709348 + Nonsense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 67709348 67709348 C A SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known nonsense c.868 p.G290* 0.946 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 79 0 0 98 30 23.4375 NFATC3 0 genome.wustl.edu 37 16 68191771 68191771 + Splice_Site SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 68191771 68191771 G A SNP NFATC3 ENST00000346183 human ensembl 74_37 +1 known splice_site c.1402-1 e4-1 1.000 - - - no_errors NFATC3 HGNC ENSG00000072736 39 0 0 64 8 11.1111 NOB1 0 genome.wustl.edu 37 16 69786254 69786254 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 69786254 69786254 T C SNP NOB1 ENST00000268802 human ensembl 74_37 -1 known missense c.217 p.T73A 1.000 smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease pfam_NOB1_Zn-bd,smart_PIN_dom,pirsf_D-site_20S_pre-rRNA_nuclease - no_errors NOB1 HGNC ENSG00000141101 147 1 0.675676 161 42 20.6897 WDR24 0 genome.wustl.edu 37 16 735692 735692 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 735692 735692 C T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known silent c.2055 p.P685 0.069 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 114 0 0 140 22 13.5802 CDYL2 0 genome.wustl.edu 37 16 80666968 80666968 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 80666968 80666968 G A SNP CDYL2 ENST00000570137 human ensembl 74_37 -1 known missense c.782 p.T261M 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 137 0 0 183 36 16.4384 CHTF18 0 genome.wustl.edu 37 16 840569 840569 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 840569 840569 C A SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.1382 p.P461H 0.066 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 10 0 0 13 3 18.75 JPH3 0 genome.wustl.edu 37 16 87636864 87636864 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 87636864 87636864 G A SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known missense c.112 p.E38K 1.000 pirsf_Junctophilin,smart_MORN pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 106 1 0.934579 104 23 18.1102 BANP 0 genome.wustl.edu 37 16 88105722 88105722 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 88105722 88105722 G A SNP BANP ENST00000286122 human ensembl 74_37 +1 known silent c.1392 p.A464 0.000 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 17 0 0 21 5 19.2308 ZC3H18 0 genome.wustl.edu 37 16 88677712 88677712 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 88677712 88677712 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1243 p.R415C 0.998 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 16 0 0 32 2 5.88235 APRT 0 genome.wustl.edu 37 16 88876484 88876484 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 88876484 88876484 T C SNP APRT ENST00000378364 human ensembl 74_37 -1 known missense c.394 p.T132A 1.000 pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans pfam_PRibTrfase_dom,tigrfam_Ade_phspho_trans - no_errors APRT HGNC ENSG00000198931 210 0 0 275 68 19.8251 ANKRD11 0 genome.wustl.edu 37 16 89352563 89352563 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 89352563 89352563 T C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.776 p.N259S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 193 1 0.515464 253 54 17.5896 MYH3 0 genome.wustl.edu 37 17 10546233 10546233 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 10546233 10546233 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known silent c.1491 p.L497 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 211 0 0 265 65 19.697 ARHGAP44 0 genome.wustl.edu 37 17 12893457 12893457 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 12893457 12893457 C T SNP ARHGAP44 ENST00000379672 human ensembl 74_37 +1 known missense c.2426 p.S809L 0.966 NULL pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 52 0 0 69 16 18.8235 COX10 0 genome.wustl.edu 37 17 14110236 14110236 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 14110236 14110236 G A SNP COX10 ENST00000261643 human ensembl 74_37 +1 known silent c.1038 p.S346 0.441 pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase - no_errors COX10 HGNC ENSG00000006695 99 0 0 145 41 22.043 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 15441469 15441469 C T SNP TVP23C ENST00000523573 human ensembl 74_37 -1 known splice_site c.162-2 e5-2 0.998 - - - no_errors TVP23C HGNC ENSG00000175106 136 0 0 168 41 19.6172 NCOR1 0 genome.wustl.edu 37 17 15971388 15971388 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 15971388 15971388 G A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.4561 p.L1521 0.998 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 36 0 0 47 10 17.5439 NCOR1 0 genome.wustl.edu 37 17 16068428 16068428 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 16068428 16068428 C T SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known silent c.483 p.S161 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 294 0 0 324 29 8.2153 RAI1 0 genome.wustl.edu 37 17 17699435 17699435 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 17699435 17699435 G A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.3173 p.R1058H 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 16 0 0 6 2 25 HIC1 0 genome.wustl.edu 37 17 1961719 1961719 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 1961719 1961719 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.1792 p.G598S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 17 0 0 18 12 40 KCNJ12 0 genome.wustl.edu 37 17 21318826 21318826 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 21318826 21318826 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.172 p.A58T 0.993 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 73 0 0 102 8 7.27273 PAFAH1B1 0 genome.wustl.edu 37 17 2579901 2579901 + Splice_Site SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 2579901 2579901 G A SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known splice_site c.1002+1 e8+1 1.000 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 116 0 0 118 31 20.8054 TNFAIP1 0 genome.wustl.edu 37 17 26669336 26669336 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 26669336 26669336 C T SNP TNFAIP1 ENST00000226225 human ensembl 74_37 +1 known silent c.582 p.N194 0.153 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors TNFAIP1 HGNC ENSG00000109079 41 0 0 54 22 28.9474 KIAA0100 0 genome.wustl.edu 37 17 26951282 26951282 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 26951282 26951282 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.4721 p.R1574Q 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 140 0 0 143 31 17.8161 NEK8 0 genome.wustl.edu 37 17 27064633 27064633 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 27064633 27064633 C A SNP NEK8 ENST00000543014 human ensembl 74_37 +1 known missense c.928 p.L310I 0.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 65 0 0 59 19 24.359 LHX1 0 genome.wustl.edu 37 17 35298059 35298059 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 35298059 35298059 C T SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known missense c.550 p.R184C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 70 0 0 86 24 21.8182 MLLT6 0 genome.wustl.edu 37 17 36869018 36869018 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 36869018 36869018 G A SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.795 p.P265 0.870 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 147 0 0 157 28 15.1351 CDK12 0 genome.wustl.edu 37 17 37686960 37686960 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 37686960 37686960 C T SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known silent c.3864 p.S1288 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 307 0 0 301 76 20.1592 ERBB2 0 genome.wustl.edu 37 17 37864636 37864636 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 37864636 37864636 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known silent c.288 p.L96 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 159 0 0 195 44 18.41 ERBB2 0 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.929 p.S310F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 412 0 0 415 100 19.4175 KRT31 0 genome.wustl.edu 37 17 39550390 39550390 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 39550390 39550390 C T SNP KRT31 ENST00000251645 human ensembl 74_37 -1 known missense c.1129 p.A377T 0.503 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT31 HGNC ENSG00000094796 125 0 0 110 24 17.9104 KRT32 0 genome.wustl.edu 37 17 39623344 39623344 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 39623344 39623344 G A SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.234 p.S78 0.044 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 97 0 0 116 33 22.1477 CNP 0 genome.wustl.edu 37 17 40125660 40125660 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 40125660 40125660 C T SNP CNP ENST00000393892 human ensembl 74_37 +1 known silent c.984 p.R328 0.579 pfam_CNPase,superfamily_RNA_ligase/cNuc_Pdiesterase,pirsf_CNPase pfam_CNPase,pfam_Zeta_toxin_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,superfamily_P-loop_NTPase,pirsf_CNPase - no_errors CNP HGNC ENSG00000173786 108 0 0 155 19 10.9195 TUBG2 0 genome.wustl.edu 37 17 40815027 40815027 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 40815027 40815027 G A SNP TUBG2 ENST00000251412 human ensembl 74_37 +1 known missense c.436 p.G146S 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin - no_errors TUBG2 HGNC ENSG00000037042 126 0 0 185 24 11.4833 WNK4 0 genome.wustl.edu 37 17 40939916 40939916 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 40939916 40939916 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.1862 p.S621L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 119 0 0 123 39 24.0741 TMUB2 0 genome.wustl.edu 37 17 42267869 42267869 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 42267869 42267869 C T SNP TMUB2 ENST00000589184 human ensembl 74_37 +1 putative nonsense c.46 p.Q16* 1.000 NULL NULL - no_errors TMUB2 HGNC ENSG00000168591 57 0 0 65 19 22.619 KANSL1 0 genome.wustl.edu 37 17 44108963 44108963 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 44108963 44108963 C T SNP KANSL1 ENST00000262419 human ensembl 74_37 -1 known missense c.3197 p.R1066H 1.000 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 35 0 0 55 9 14.0625 MYBBP1A 0 genome.wustl.edu 37 17 4442961 4442961 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 4442961 4442961 C T SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.3736 p.A1246T 0.967 NULL pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 320 0 0 325 85 20.7317 TBKBP1 0 genome.wustl.edu 37 17 45773500 45773500 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 45773500 45773500 G A SNP TBKBP1 ENST00000361722 human ensembl 74_37 +1 known missense c.22 p.D8N 0.998 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 65 0 0 79 16 16.8421 PLD2 0 genome.wustl.edu 37 17 4720531 4720531 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 4720531 4720531 G A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.1792 p.G598R 0.996 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 249 1 0.4 291 69 19.1667 ZNF652 0 genome.wustl.edu 37 17 47394293 47394293 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 47394293 47394293 G A SNP ZNF652 ENST00000362063 human ensembl 74_37 -1 known silent c.795 p.N265 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF652 HGNC ENSG00000198740 198 1 0.502513 205 38 15.6379 ENO3 0 genome.wustl.edu 37 17 4860322 4860322 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 4860322 4860322 C T SNP ENO3 ENST00000323997 human ensembl 74_37 +1 known missense c.1285 p.R429C 1.000 pfam_Enolase_C,pirsf_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO3 HGNC ENSG00000108515 184 0 0 244 47 16.1512 CAMTA2 0 genome.wustl.edu 37 17 4889556 4889556 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 4889556 4889556 G T SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.31 p.L11I 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 34 0 0 48 17 26.1538 WFIKKN2 0 genome.wustl.edu 37 17 48917876 48917876 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 48917876 48917876 C T SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known silent c.1227 p.G409 0.548 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 91 0 0 109 24 18.0451 SLC52A1 0 genome.wustl.edu 37 17 4937566 4937566 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 4937566 4937566 G A SNP SLC52A1 ENST00000254853 human ensembl 74_37 -1 known missense c.218 p.P73L 0.963 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A1 HGNC ENSG00000132517 96 0 0 125 32 20.3822 USP6 0 genome.wustl.edu 37 17 5042569 5042569 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 5042569 5042569 C A SNP USP6 ENST00000250066 human ensembl 74_37 +1 known silent c.1098 p.S366 0.016 NULL pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 128 0 0 177 30 14.4928 ANKFN1 0 genome.wustl.edu 37 17 54526505 54526505 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 54526505 54526505 C T SNP ANKFN1 ENST00000318698 human ensembl 74_37 +1 known silent c.1174 p.L392 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 124 0 0 95 21 18.1034 EPX 0 genome.wustl.edu 37 17 56274340 56274340 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 56274340 56274340 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known missense c.842 p.C281Y 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 199 1 0.5 256 47 15.5116 BZRAP1 0 genome.wustl.edu 37 17 56399703 56399703 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 56399703 56399703 C T SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.1388 p.R463Q 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 130 0 0 173 19 9.89583 TANC2 0 genome.wustl.edu 37 17 61497863 61497863 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 61497863 61497863 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4520 p.P1507L 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 TANC2 HGNC ENSG00000170921 84 0 0 96 22 18.6441 PLEKHM1P 0 genome.wustl.edu 37 17 62818141 62818141 + RNA SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 62818141 62818141 T C SNP PLEKHM1P ENST00000397718 human ensembl 74_37 -1 known rna NULL NULL 0.158 - - - no_errors PLEKHM1P HGNC ENSG00000214176 54 0 0 80 19 19.1919 CDC42EP4 0 genome.wustl.edu 37 17 71282535 71282535 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 71282535 71282535 G A SNP CDC42EP4 ENST00000335793 human ensembl 74_37 -1 known silent c.105 p.R35 0.996 pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP4 HGNC ENSG00000179604 68 0 0 80 16 16.6667 NEURL4 0 genome.wustl.edu 37 17 7224553 7224553 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 7224553 7224553 C T SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.3238 p.G1080S 0.995 pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 97 0 0 110 24 17.9104 BTBD17 0 genome.wustl.edu 37 17 72353578 72353578 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 72353578 72353578 G A SNP BTBD17 ENST00000375366 human ensembl 74_37 -1 known missense c.655 p.R219C 1.000 pfam_BACK,smart_BACK pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD17 HGNC ENSG00000204347 22 0 0 11 4 26.6667 KIAA0195 0 genome.wustl.edu 37 17 73487842 73487842 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 73487842 73487842 G A SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.1457 p.R486H 0.017 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 113 0 0 114 27 19.1489 GALK1 0 genome.wustl.edu 37 17 73761135 73761135 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 73761135 73761135 G A SNP GALK1 ENST00000437911 human ensembl 74_37 -1 known missense c.173 p.P58L 1.000 pfam_GalKase_gal-bd,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 9 0 0 21 6 22.2222 EVPL 0 genome.wustl.edu 37 17 74005204 74005204 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 74005204 74005204 A G SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.4082 p.L1361P 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 183 0 0 239 59 19.7987 JMJD6 0 genome.wustl.edu 37 17 74714772 74714772 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 74714772 74714772 G A SNP JMJD6 ENST00000585429 human ensembl 74_37 -1 putative missense c.1112 p.A371V 0.005 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC ENSG00000070495 56 0 0 73 6 7.59494 MGAT5B 0 genome.wustl.edu 37 17 74936837 74936837 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 74936837 74936837 G A SNP MGAT5B ENST00000428789 human ensembl 74_37 +1 known silent c.1782 p.A594 0.002 NULL superfamily_PyrdxlP-dep_Trfase - no_errors MGAT5B HGNC ENSG00000167889 127 0 0 134 41 23.4286 SEC14L1 0 genome.wustl.edu 37 17 75196655 75196655 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 75196655 75196655 G A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known silent c.909 p.T303 0.003 superfamily_CRAL/TRIO_N_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 238 0 0 240 66 21.5686 ENGASE 0 genome.wustl.edu 37 17 77078044 77078044 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 77078044 77078044 C T SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known missense c.937 p.R313W 0.808 pfam_Glyco_hydro_85 pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 219 0 0 223 52 18.9091 CCDC40 0 genome.wustl.edu 37 17 78073485 78073485 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 78073485 78073485 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.3340 p.V1114M 0.140 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 70 0 0 91 21 18.75 CHMP6 0 genome.wustl.edu 37 17 78972925 78972925 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 78972925 78972925 G T SNP CHMP6 ENST00000325167 human ensembl 74_37 +1 known missense c.578 p.R193M 0.932 NULL pfam_Snf7 - no_errors CHMP6 HGNC ENSG00000176108 135 0 0 180 21 10.4478 GUCY2D 0 genome.wustl.edu 37 17 7915631 7915631 + Missense_Mutation SNP G G C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 7915631 7915631 G C SNP GUCY2D ENST00000254854 human ensembl 74_37 +1 known missense c.1919 p.W640S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Haem_no_assoc-bd,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors GUCY2D HGNC ENSG00000132518 88 0 0 149 31 17.2222 AZI1 0 genome.wustl.edu 37 17 79164825 79164825 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 79164825 79164825 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.2834 p.R945Q 1.000 superfamily_t-SNARE superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 92 0 0 127 41 24.4048 GPS1 0 genome.wustl.edu 37 17 80014563 80014563 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 80014563 80014563 C T SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.1295 p.T432M 0.999 pfam_PCI_dom,smart_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 24 0 0 37 11 22.9167 ARHGEF15 0 genome.wustl.edu 37 17 8224243 8224243 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 8224243 8224243 C T SNP ARHGEF15 ENST00000361926 human ensembl 74_37 +1 known missense c.2458 p.R820C 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF15 HGNC ENSG00000198844 135 1 0.735294 153 37 19.4737 MYH10 0 genome.wustl.edu 37 17 8409746 8409746 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 8409746 8409746 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known silent c.3246 p.D1082 0.051 superfamily_HR1_rho-bd pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 137 1 0.724638 173 42 19.5349 MYH10 0 genome.wustl.edu 37 17 8508243 8508243 + Missense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 8508243 8508243 A C SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.403 p.S135A 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 111 0 0 82 26 24.0741 RPH3AL 0 genome.wustl.edu 37 17 97063 97063 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 97063 97063 G A SNP RPH3AL ENST00000331302 human ensembl 74_37 -1 known missense c.452 p.S151L 0.988 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Znf_FYVE-typ,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RPH3AL HGNC ENSG00000181031 36 0 0 45 15 25 ENSG00000266954 0 genome.wustl.edu 37 18 13645087 13645087 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 13645087 13645087 G A SNP ENSG00000266954 ENST00000588397 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-701H16.4 Clone_based_vega_gene ENSG00000266954 107 0 0 93 24 20.5128 ANKRD30B 0 genome.wustl.edu 37 18 14757831 14757831 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 14757831 14757831 C A SNP ANKRD30B ENST00000358984 human ensembl 74_37 +1 known missense c.635 p.A212D 0.067 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ENSG00000180777 41 0 0 55 4 6.77966 RIOK3 0 genome.wustl.edu 37 18 21046208 21046208 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 21046208 21046208 C T SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known missense c.655 p.R219C 1.000 pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 64 0 0 91 19 17.2727 ZNF521 0 genome.wustl.edu 37 18 22804764 22804764 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 22804764 22804764 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.3118 p.T1040A 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 65 0 0 100 23 18.6992 DSG1 0 genome.wustl.edu 37 18 28919904 28919904 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 28919904 28919904 G A SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.1603 p.G535R 0.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 143 0 0 183 38 17.1946 DSG3 0 genome.wustl.edu 37 18 29040811 29040811 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 29040811 29040811 C T SNP DSG3 ENST00000257189 human ensembl 74_37 +1 known missense c.700 p.R234C 0.080 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_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 83 0 0 76 17 18.2796 LPIN2 0 genome.wustl.edu 37 18 2922171 2922171 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 2922171 2922171 G A SNP LPIN2 ENST00000261596 human ensembl 74_37 -1 known missense c.2201 p.S734L 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 50 0 0 63 20 24.0964 GAREM 0 genome.wustl.edu 37 18 29972872 29972872 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 29972872 29972872 G A SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.248 p.P83L 1.000 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 110 0 0 127 24 15.894 CELF4 0 genome.wustl.edu 37 18 34854793 34854793 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 34854793 34854793 G A SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.632 p.A211V 0.969 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 11 0 0 18 5 21.7391 DLGAP1-AS1 0 genome.wustl.edu 37 18 3597045 3597045 + RNA SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 3597045 3597045 T C SNP DLGAP1-AS1 ENST00000317114 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DLGAP1-AS1 HGNC ENSG00000177337 63 0 0 89 18 16.8224 SMAD7 0 genome.wustl.edu 37 18 46448019 46448019 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 46448019 46448019 C T SNP SMAD7 ENST00000262158 human ensembl 74_37 -1 known missense c.1004 p.R335H 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD7 HGNC ENSG00000101665 48 0 0 56 10 15.1515 ST8SIA3 0 genome.wustl.edu 37 18 55027353 55027353 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 55027353 55027353 A G SNP ST8SIA3 ENST00000324000 human ensembl 74_37 +1 known missense c.988 p.T330A 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA3 HGNC ENSG00000177511 75 0 0 104 9 7.9646 ATP8B1 0 genome.wustl.edu 37 18 55365098 55365098 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 55365098 55365098 A G SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.556 p.F186L 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 38 0 0 53 5 8.62069 PIGN 0 genome.wustl.edu 37 18 59828459 59828459 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 59828459 59828459 G T SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.128 p.A43E 1.000 superfamily_Alkaline_phosphatase_core pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 81 0 0 85 15 15 ARHGAP28 0 genome.wustl.edu 37 18 6890442 6890442 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 6890442 6890442 T C SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1748 p.L583S 0.986 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 61 0 0 40 6 13.0435 ZNF407 0 genome.wustl.edu 37 18 72775204 72775204 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 72775204 72775204 C T SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.5527 p.P1843S 0.171 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 168 0 0 224 36 13.8462 ZNF236 0 genome.wustl.edu 37 18 74607223 74607223 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 74607223 74607223 C A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.1666 p.H556N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 44 0 0 61 11 15.2778 ZNF236 0 genome.wustl.edu 37 18 74627612 74627612 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 74627612 74627612 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.3065 p.A1022V 0.001 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 153 0 0 160 43 21.1823 ATP9B 0 genome.wustl.edu 37 18 77107847 77107847 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 77107847 77107847 C T SNP ATP9B ENST00000426216 human ensembl 74_37 +1 known silent c.2760 p.H920 0.830 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9B HGNC ENSG00000166377 91 0 0 108 23 17.5573 PTPRM 0 genome.wustl.edu 37 18 8394488 8394488 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 8394488 8394488 G A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.4226 p.R1409H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 50 0 0 56 13 18.8406 DNMT1 0 genome.wustl.edu 37 19 10250716 10250716 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 10250716 10250716 G A SNP DNMT1 ENST00000589538 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DNMT1 HGNC ENSG00000130816 71 0 0 113 27 19.2857 DNMT1 0 genome.wustl.edu 37 19 10267172 10267172 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 10267172 10267172 G A SNP DNMT1 ENST00000359526 human ensembl 74_37 -1 known missense c.1294 p.H432Y 0.478 pirsf_DNA_C5-MeTrfase_1_euk,pfam_Cytosine_MeTrfase1_RFD pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 76 0 0 92 22 19.2982 SMARCA4 0 genome.wustl.edu 37 19 11144113 11144113 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 11144113 11144113 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3694 p.G1232S 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 151 0 0 174 47 21.267 LDLR 0 genome.wustl.edu 37 19 11217255 11217255 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 11217255 11217255 C T SNP LDLR ENST00000558518 human ensembl 74_37 +1 known missense c.709 p.R237C 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LDLR HGNC ENSG00000130164 128 0 0 139 33 19.186 CCDC151 0 genome.wustl.edu 37 19 11537032 11537032 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 11537032 11537032 G A SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.895 p.R299C 0.459 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 47 0 0 83 8 8.79121 ZNF653 0 genome.wustl.edu 37 19 11598206 11598206 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 11598206 11598206 T C SNP ZNF653 ENST00000293771 human ensembl 74_37 -1 known missense c.1072 p.M358V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 65 0 0 76 10 11.6279 ZNF625 0 genome.wustl.edu 37 19 12256707 12256707 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 12256707 12256707 C T SNP ZNF625 ENST00000439556 human ensembl 74_37 -1 known missense c.524 p.R175H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF625 HGNC ENSG00000257591 196 1 0.507614 243 81 25 ZNF442 0 genome.wustl.edu 37 19 12461259 12461259 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 12461259 12461259 C T SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known silent c.1140 p.K380 0.008 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 377 2 0.527704 403 82 16.9072 TNPO2 0 genome.wustl.edu 37 19 12829855 12829855 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 12829855 12829855 G A SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known nonsense c.313 p.R105* 0.998 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 165 0 0 199 50 20.0803 RNASEH2A 0 genome.wustl.edu 37 19 12918305 12918305 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 12918305 12918305 C T SNP RNASEH2A ENST00000221486 human ensembl 74_37 +1 known silent c.396 p.G132 0.980 pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA pfam_RNase_HII/HIII_dom,superfamily_RNaseH-like_dom,tigrfam_RNase_H2_suA - no_errors RNASEH2A HGNC ENSG00000104889 67 0 0 66 21 24.1379 NANOS3 0 genome.wustl.edu 37 19 13988423 13988423 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 13988423 13988423 C T SNP NANOS3 ENST00000339133 human ensembl 74_37 +1 known missense c.361 p.R121C 0.917 pfam_Znf_nanos-typ pfam_Znf_nanos-typ - no_errors NANOS3 HGNC ENSG00000187556 41 0 0 48 12 20 CD97 0 genome.wustl.edu 37 19 14507198 14507198 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 14507198 14507198 G A SNP CD97 ENST00000242786 human ensembl 74_37 +1 known missense c.391 p.G131S 0.000 pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC ENSG00000123146 151 0 0 182 26 12.5 BRD4 0 genome.wustl.edu 37 19 15349730 15349730 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 15349730 15349730 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.3844 p.R1282C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 13 0 0 19 6 24 C19orf44 0 genome.wustl.edu 37 19 16611979 16611979 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 16611979 16611979 G A SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.376 p.G126S 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 110 0 0 126 34 21.25 ANO8 0 genome.wustl.edu 37 19 17438603 17438603 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 17438603 17438603 G A SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known silent c.2313 p.C771 0.767 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 155 1 0.641026 200 29 12.6638 PLVAP 0 genome.wustl.edu 37 19 17476403 17476403 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 17476403 17476403 G A SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known missense c.871 p.R291W 0.001 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 79 0 0 105 21 16.6667 SLC27A1 0 genome.wustl.edu 37 19 17608216 17608216 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 17608216 17608216 C T SNP SLC27A1 ENST00000252595 human ensembl 74_37 +1 known silent c.1149 p.I383 0.987 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 40 0 0 48 15 23.8095 IL12RB1 0 genome.wustl.edu 37 19 18179309 18179309 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 18179309 18179309 C A SNP IL12RB1 ENST00000593993 human ensembl 74_37 -1 known missense c.1217 p.G406V 0.005 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC ENSG00000096996 231 1 0.431034 271 48 15.047 REXO1 0 genome.wustl.edu 37 19 1820125 1820125 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 1820125 1820125 G A SNP REXO1 ENST00000586343 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors REXO1 HGNC ENSG00000079313 40 0 0 53 10 15.873 SUGP1 0 genome.wustl.edu 37 19 19414736 19414736 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 19414736 19414736 G A SNP SUGP1 ENST00000334782 human ensembl 74_37 -1 known missense c.655 p.R219C 0.999 NULL NULL - no_errors SUGP1 HGNC ENSG00000105705 256 0 0 309 65 17.3797 MAU2 0 genome.wustl.edu 37 19 19448072 19448072 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 19448072 19448072 G A SNP MAU2 ENST00000262815 human ensembl 74_37 +1 known missense c.454 p.A152T 1.000 pfam_Cohesin_loading_factor pfam_Cohesin_loading_factor,smart_TPR_repeat - no_errors MAU2 HGNC ENSG00000129933 27 0 0 38 3 7.31707 GMIP 0 genome.wustl.edu 37 19 19744834 19744834 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 19744834 19744834 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known silent c.2250 p.I750 0.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 100 0 0 112 26 18.8406 ZNF431 0 genome.wustl.edu 37 19 21365877 21365877 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 21365877 21365877 G A SNP ZNF431 ENST00000311048 human ensembl 74_37 +1 known silent c.771 p.E257 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 105 0 0 107 25 18.9394 DOT1L 0 genome.wustl.edu 37 19 2213582 2213582 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 2213582 2213582 C T SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known silent c.1602 p.S534 0.997 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 97 0 0 118 21 15.1079 ZNF676 0 genome.wustl.edu 37 19 22379411 22379411 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 22379411 22379411 C T SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.25 p.V9I 0.967 superfamily_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 267 1 0.373134 285 47 14.1566 GNA11 0 genome.wustl.edu 37 19 3110179 3110179 + Missense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 3110179 3110179 A C SNP GNA11 ENST00000078429 human ensembl 74_37 +1 known missense c.169 p.K57Q 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNA11 HGNC ENSG00000088256 21 0 0 24 6 20 ANKRD27 0 genome.wustl.edu 37 19 33110407 33110407 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 33110407 33110407 G A SNP ANKRD27 ENST00000306065 human ensembl 74_37 -1 known missense c.1880 p.S627L 0.396 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_VPS9,superfamily_Ankyrin_rpt-contain_dom,smart_VPS9_subgr,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_VPS9,prints_Ankyrin_rpt - no_errors ANKRD27 HGNC ENSG00000105186 134 0 0 148 35 19.1257 GPATCH1 0 genome.wustl.edu 37 19 33608733 33608733 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 33608733 33608733 C T SNP GPATCH1 ENST00000170564 human ensembl 74_37 +1 known silent c.2199 p.T733 0.000 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC ENSG00000076650 126 0 0 126 22 14.8649 LRP3 0 genome.wustl.edu 37 19 33687652 33687652 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 33687652 33687652 C T SNP LRP3 ENST00000253193 human ensembl 74_37 +1 known silent c.90 p.T30 0.119 NULL pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP3 HGNC ENSG00000130881 151 0 0 168 31 15.5779 TMEM147 0 genome.wustl.edu 37 19 36036859 36036859 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 36036859 36036859 G A SNP TMEM147 ENST00000593027 human ensembl 74_37 +1 known missense c.46 p.D16N 1.000 NULL NULL - no_errors TMEM147 HGNC ENSG00000105677 22 0 0 21 9 30 LRFN3 0 genome.wustl.edu 37 19 36435796 36435796 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 36435796 36435796 G A SNP LRFN3 ENST00000246529 human ensembl 74_37 +1 known missense c.1762 p.G588S 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN3 HGNC ENSG00000126243 14 0 0 23 5 17.8571 SIPA1L3 0 genome.wustl.edu 37 19 38572401 38572401 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 38572401 38572401 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.196 p.R66C 0.764 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 19 0 0 36 11 23.4043 RYR1 0 genome.wustl.edu 37 19 38976748 38976748 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 38976748 38976748 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.5453 p.A1818V 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 123 0 0 207 39 15.8537 RYR1 0 genome.wustl.edu 37 19 39010019 39010019 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 39010019 39010019 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.10184 p.R3395Q 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 19 0 0 28 7 20 SIRT2 0 genome.wustl.edu 37 19 39380359 39380359 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 39380359 39380359 G A SNP SIRT2 ENST00000249396 human ensembl 74_37 -1 known silent c.402 p.L134 0.994 pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom - no_errors SIRT2 HGNC ENSG00000068903 74 0 0 92 24 20.6897 PLEKHG2 0 genome.wustl.edu 37 19 39905680 39905680 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 39905680 39905680 C T SNP PLEKHG2 ENST00000409794 human ensembl 74_37 +1 known missense c.158 p.T53I 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 15 0 0 14 5 26.3158 RPS16 0 genome.wustl.edu 37 19 39924246 39924246 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 39924246 39924246 G A SNP RPS16 ENST00000339471 human ensembl 74_37 -1 novel silent c.306 p.S102 0.000 NULL pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors RPS16 HGNC ENSG00000105193 82 0 0 101 24 19.2 LGALS14 0 genome.wustl.edu 37 19 40197275 40197275 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 40197275 40197275 G A SNP LGALS14 ENST00000360675 human ensembl 74_37 +1 known silent c.141 p.S47 0.001 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS14 HGNC ENSG00000006659 259 0 0 276 77 21.813 PLD3 0 genome.wustl.edu 37 19 40877716 40877716 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 40877716 40877716 G A SNP PLD3 ENST00000356508 human ensembl 74_37 +1 known missense c.815 p.R272H 0.014 NULL pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pfscan_PLipase_D/transphosphatidylase - no_errors PLD3 HGNC ENSG00000105223 91 0 0 106 25 19.084 MEGF8 0 genome.wustl.edu 37 19 42879848 42879848 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 42879848 42879848 G A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.7459 p.V2487M 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 19 0 0 19 6 24 PSG2 0 genome.wustl.edu 37 19 43585372 43585372 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 43585372 43585372 G A SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known missense c.91 p.P31S 0.001 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 302 0 0 303 84 21.7054 BCL3 0 genome.wustl.edu 37 19 45262835 45262835 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 45262835 45262835 G A SNP BCL3 ENST00000164227 human ensembl 74_37 +1 known missense c.1328 p.R443Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 181 0 0 232 60 20.5479 RELB 0 genome.wustl.edu 37 19 45540995 45540995 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 45540995 45540995 C T SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.1687 p.R563C 0.999 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 64 0 0 83 19 18.6275 ZNF296 0 genome.wustl.edu 37 19 45575762 45575762 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 45575762 45575762 G A SNP ZNF296 ENST00000303809 human ensembl 74_37 -1 known silent c.525 p.H175 0.011 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF296 HGNC ENSG00000170684 118 1 0.840336 147 21 12.5 PPP1R13L 0 genome.wustl.edu 37 19 45900294 45900294 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 45900294 45900294 G A SNP PPP1R13L ENST00000360957 human ensembl 74_37 -1 known missense c.221 p.S74L 0.988 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13L HGNC ENSG00000104881 13 0 0 10 5 33.3333 RTN2 0 genome.wustl.edu 37 19 45989353 45989353 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 45989353 45989353 C T SNP RTN2 ENST00000245923 human ensembl 74_37 -1 known missense c.1516 p.V506M 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 41 0 0 64 10 13.5135 FBXO46 0 genome.wustl.edu 37 19 46215117 46215117 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 46215117 46215117 C T SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.1637 p.R546H 1.000 superfamily_F-box_dom superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 48 0 0 68 14 17.0732 PGLYRP1 0 genome.wustl.edu 37 19 46526000 46526000 + Missense_Mutation SNP C C G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 46526000 46526000 C G SNP PGLYRP1 ENST00000008938 human ensembl 74_37 -1 known missense c.280 p.G94R 0.885 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition - no_errors PGLYRP1 HGNC ENSG00000008438 92 0 0 138 11 7.38255 ARHGAP35 0 genome.wustl.edu 37 19 47492845 47492845 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 47492845 47492845 G A SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known missense c.3949 p.V1317M 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 139 0 0 159 50 23.9234 LIG1 0 genome.wustl.edu 37 19 48620961 48620961 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 48620961 48620961 G A SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known silent c.2517 p.S839 0.131 pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,tigrfam_DNA_ligase_ATP-dep pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 12 0 0 28 15 34.8837 ARRDC5 0 genome.wustl.edu 37 19 4891270 4891270 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 4891270 4891270 G T SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known missense c.817 p.L273M 0.955 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 181 1 0.549451 208 53 20.3065 GRIN2D 0 genome.wustl.edu 37 19 48919411 48919411 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 48919411 48919411 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known silent c.1734 p.L578 0.681 pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 47 0 0 74 7 8.64198 FUT1 0 genome.wustl.edu 37 19 49254356 49254356 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 49254356 49254356 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known silent c.183 p.A61 0.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 84 0 0 88 25 22.1239 PPFIA3 0 genome.wustl.edu 37 19 49646088 49646088 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 49646088 49646088 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.2572 p.V858M 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 128 0 0 160 17 9.60452 RCN3 0 genome.wustl.edu 37 19 50031892 50031892 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 50031892 50031892 G A SNP RCN3 ENST00000270645 human ensembl 74_37 +1 known missense c.163 p.D55N 1.000 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors RCN3 HGNC ENSG00000142552 147 1 0.675676 179 41 18.6364 FUZ 0 genome.wustl.edu 37 19 50312814 50312814 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 50312814 50312814 C T SNP FUZ ENST00000313777 human ensembl 74_37 -1 known missense c.511 p.A171T 0.984 NULL NULL - no_errors FUZ HGNC ENSG00000010361 14 0 0 22 5 18.5185 KDM4B 0 genome.wustl.edu 37 19 5071059 5071059 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 5071059 5071059 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.665 p.R222Q 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 41 0 0 69 16 18.8235 NAPSA 0 genome.wustl.edu 37 19 50864364 50864364 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 50864364 50864364 C T SNP NAPSA ENST00000253719 human ensembl 74_37 -1 known missense c.502 p.G168R 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors NAPSA HGNC ENSG00000131400 240 0 0 227 47 17.1533 KLK6 0 genome.wustl.edu 37 19 51466663 51466663 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 51466663 51466663 G A SNP KLK6 ENST00000310157 human ensembl 74_37 -1 known missense c.340 p.R114C 0.001 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK6 HGNC ENSG00000167755 54 0 0 96 17 15.0442 KLK6 0 genome.wustl.edu 37 19 51466771 51466771 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 51466771 51466771 G A SNP KLK6 ENST00000310157 human ensembl 74_37 -1 known missense c.232 p.R78W 0.007 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK6 HGNC ENSG00000167755 95 0 0 127 26 16.9935 ZNF665 0 genome.wustl.edu 37 19 53669090 53669090 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 53669090 53669090 C T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.653 p.R218H 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 ZNF665 HGNC ENSG00000197497 179 1 0.555556 178 44 19.8198 ZNRF4 0 genome.wustl.edu 37 19 5455726 5455726 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 5455726 5455726 G A SNP ZNRF4 ENST00000222033 human ensembl 74_37 +1 known missense c.224 p.R75Q 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF4 HGNC ENSG00000105428 100 0 0 146 27 15.6069 PRPF31 0 genome.wustl.edu 37 19 54625258 54625258 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 54625258 54625258 C T SNP PRPF31 ENST00000321030 human ensembl 74_37 +1 known silent c.258 p.A86 0.792 NULL pfam_Nop_dom,pfam_Prp31_C,pfam_NOSIC,smart_NOSIC - no_errors PRPF31 HGNC ENSG00000105618 24 0 0 28 4 12.5 LAIR1 0 genome.wustl.edu 37 19 54876412 54876412 + RNA SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 54876412 54876412 G T SNP LAIR1 ENST00000484116 human ensembl 74_37 -1 known rna NULL NULL 0.899 - - - no_errors LAIR1 HGNC ENSG00000167613 84 0 0 101 29 22.3077 TTYH1 0 genome.wustl.edu 37 19 54930393 54930393 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 54930393 54930393 G A SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known missense c.218 p.R73Q 0.825 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 116 0 0 152 30 16.4835 NLRP7 0 genome.wustl.edu 37 19 55450873 55450873 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 55450873 55450873 G A SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known silent c.1398 p.L466 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 NLRP7 HGNC ENSG00000167634 97 0 0 116 26 18.3099 NLRP9 0 genome.wustl.edu 37 19 56241264 56241264 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 56241264 56241264 C T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1927 p.D643N 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 135 0 0 143 46 24.3386 SAFB 0 genome.wustl.edu 37 19 5661542 5661542 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 5661542 5661542 C T SNP SAFB ENST00000588852 human ensembl 74_37 +1 known missense c.1876 p.R626C 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 120 1 0.826446 162 38 19 ZNF71 0 genome.wustl.edu 37 19 57133642 57133642 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 57133642 57133642 C T SNP ZNF71 ENST00000328070 human ensembl 74_37 +1 known silent c.987 p.G329 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF71 HGNC ENSG00000197951 105 0 0 125 20 13.7931 ZNF835 0 genome.wustl.edu 37 19 57175745 57175745 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 57175745 57175745 C A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.822 p.E274D 0.001 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 13 0 0 30 12 28.5714 ZNF671 0 genome.wustl.edu 37 19 58232172 58232172 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 58232172 58232172 T C SNP ZNF671 ENST00000317398 human ensembl 74_37 -1 known missense c.1282 p.S428G 0.016 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 ZNF671 HGNC ENSG00000083814 143 0 0 188 26 12.1495 ZNF814 0 genome.wustl.edu 37 19 58385329 58385329 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 58385329 58385329 G A SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.1429 p.R477C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 64 0 0 72 18 20 ZSCAN1 0 genome.wustl.edu 37 19 58549583 58549583 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 58549583 58549583 C T SNP ZSCAN1 ENST00000391700 human ensembl 74_37 +1 known missense c.379 p.R127C 0.004 smart_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN1 HGNC ENSG00000152467 15 0 0 17 4 19.0476 SLC27A5 0 genome.wustl.edu 37 19 59021257 59021257 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 59021257 59021257 G A SNP SLC27A5 ENST00000263093 human ensembl 74_37 -1 known silent c.1014 p.H338 0.031 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A5 HGNC ENSG00000083807 45 0 0 63 9 12.5 ZBTB45 0 genome.wustl.edu 37 19 59028288 59028288 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 59028288 59028288 G A SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known silent c.753 p.S251 0.004 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB45 HGNC ENSG00000119574 362 1 0.275482 403 104 20.5128 VAV1 0 genome.wustl.edu 37 19 6854032 6854032 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 6854032 6854032 C A SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.2407 p.L803I 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 140 0 0 210 46 17.9688 HNRNPM 0 genome.wustl.edu 37 19 8527430 8527430 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 8527430 8527430 G A SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.301 p.V101M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 328 0 0 415 47 10.1732 ADAMTS10 0 genome.wustl.edu 37 19 8670129 8670129 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 8670129 8670129 G A SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.203 p.T68M 0.008 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 34 0 0 37 8 17.7778 EIF5B 0 genome.wustl.edu 37 2 100010862 100010862 + Splice_Site SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 100010862 100010862 G A SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known splice_site c.3012+1 e19+1 1.000 - - - no_errors EIF5B HGNC ENSG00000158417 141 0 0 171 38 18.1818 CREG2 0 genome.wustl.edu 37 2 101967439 101967439 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 101967439 101967439 G A SNP CREG2 ENST00000324768 human ensembl 74_37 -1 known silent c.819 p.G273 0.065 superfamily_Split_barrel_FMN-bd,pirsf_CREG superfamily_Split_barrel_FMN-bd,pirsf_CREG - no_errors CREG2 HGNC ENSG00000175874 184 0 0 234 26 10 NCK2 0 genome.wustl.edu 37 2 106498310 106498310 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 106498310 106498310 C T SNP NCK2 ENST00000233154 human ensembl 74_37 +1 known silent c.753 p.Y251 0.991 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pirsf_Cytoplasmic_NCK,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK2 HGNC ENSG00000071051 85 0 0 127 24 15.894 UXS1 0 genome.wustl.edu 37 2 106715192 106715192 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 106715192 106715192 T C SNP UXS1 ENST00000283148 human ensembl 74_37 -1 known missense c.1022 p.Q341R 1.000 pfam_dTDP_dehydrorham_reduct pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC ENSG00000115652 19 0 0 20 5 20 ST6GAL2 0 genome.wustl.edu 37 2 107423342 107423342 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 107423342 107423342 C T SNP ST6GAL2 ENST00000361686 human ensembl 74_37 -1 known missense c.1382 p.R461Q 0.996 pfam_Glyco_trans_29 pfam_Glyco_trans_29,superfamily_Glyco_hydro/deAcase_b/a-brl - no_errors ST6GAL2 HGNC ENSG00000144057 56 0 0 79 20 20.202 KCNF1 0 genome.wustl.edu 37 2 11053018 11053018 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 11053018 11053018 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.466 p.A156T 0.959 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 65 0 0 104 24 18.75 ENSG00000273471 0 genome.wustl.edu 37 2 111144803 111144803 + RNA SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 111144803 111144803 G T SNP ENSG00000273471 ENST00000488671 human ensembl 74_37 -1 known rna NULL NULL 0.992 - - - no_errors RP13-1039J1.4 Clone_based_vega_gene ENSG00000273471 29 0 0 46 6 11.5385 FBLN7 0 genome.wustl.edu 37 2 112942900 112942900 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 112942900 112942900 G A SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known missense c.931 p.V311M 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,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 - no_errors FBLN7 HGNC ENSG00000144152 98 0 0 116 16 12.1212 EN1 0 genome.wustl.edu 37 2 119604372 119604372 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 119604372 119604372 C T SNP EN1 ENST00000295206 human ensembl 74_37 -1 known silent c.372 p.P124 0.001 NULL pfam_Homeobox_dom,pfam_Homeobox-engrailed_C-terminal,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeodomain_engrailed,prints_Homeobox_metazoa,prints_Antifreeze_1,prints_K_chnl_volt-dep_Kv1.4 - no_errors EN1 HGNC ENSG00000163064 61 0 0 78 20 20.4082 WDR33 0 genome.wustl.edu 37 2 128477227 128477227 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 128477227 128477227 C T SNP WDR33 ENST00000322313 human ensembl 74_37 -1 known missense c.2372 p.R791Q 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC ENSG00000136709 67 0 0 77 18 18.9474 ACMSD 0 genome.wustl.edu 37 2 135625178 135625178 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 135625178 135625178 C T SNP ACMSD ENST00000356140 human ensembl 74_37 +1 known silent c.516 p.F172 0.972 pfam_Amidohydro_2 pfam_Amidohydro_2 - no_errors ACMSD HGNC ENSG00000153086 147 0 0 165 41 19.9029 TPO 0 genome.wustl.edu 37 2 1418199 1418199 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 1418199 1418199 C T SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.19 p.L7 0.178 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 51 0 0 47 9 16.0714 SCN3A 0 genome.wustl.edu 37 2 165956828 165956828 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 165956828 165956828 C T SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known missense c.3950 p.R1317Q 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 99 0 0 100 21 17.3554 SCN3A 0 genome.wustl.edu 37 2 165984285 165984285 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 165984285 165984285 G A SNP SCN3A ENST00000283254 human ensembl 74_37 -1 known silent c.3249 p.Y1083 0.323 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN3A HGNC ENSG00000153253 92 0 0 127 33 20.625 SCN1A 0 genome.wustl.edu 37 2 166848275 166848275 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 166848275 166848275 G A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5510 p.P1837L 0.996 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 161 0 0 199 37 15.678 ZAK 0 genome.wustl.edu 37 2 174074513 174074513 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 174074513 174074513 G A SNP ZAK ENST00000375213 human ensembl 74_37 +1 known silent c.801 p.T267 0.466 pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 107 0 0 128 11 7.91367 SP3 0 genome.wustl.edu 37 2 174774779 174774779 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 174774779 174774779 A G SNP SP3 ENST00000310015 human ensembl 74_37 -1 known missense c.2236 p.S746P 1.000 NULL pfam_Znf_C2H2,superfamily_Galactose-bd-like,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP3 HGNC ENSG00000172845 115 0 0 134 40 22.9885 EVX2 0 genome.wustl.edu 37 2 176948177 176948177 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 176948177 176948177 C T SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known missense c.328 p.A110T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 40 0 0 49 9 15.5172 HOXD12 0 genome.wustl.edu 37 2 176965131 176965131 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 176965131 176965131 G A SNP HOXD12 ENST00000404162 human ensembl 74_37 +1 novel missense c.602 p.R201Q 0.000 NULL NULL - no_errors HOXD12 HGNC ENSG00000170178 21 0 0 32 8 20 TTN 0 genome.wustl.edu 37 2 179391930 179391930 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 179391930 179391930 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.100081 p.T33361A 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 52 6 10.3448 TTN 0 genome.wustl.edu 37 2 179395635 179395635 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 179395635 179395635 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.98003 p.S32668F 1.000 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 240 0 0 227 49 17.7536 TTN 0 genome.wustl.edu 37 2 179426759 179426759 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 179426759 179426759 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.76396 p.E25466K 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 32 0 0 42 7 14.2857 TTN 0 genome.wustl.edu 37 2 179428010 179428010 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 179428010 179428010 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75145 p.W25049R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 107 0 0 142 29 16.9591 TTN 0 genome.wustl.edu 37 2 179440367 179440367 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 179440367 179440367 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.62788 p.G20930S 0.976 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 171 0 0 193 48 19.917 TTN 0 genome.wustl.edu 37 2 179472567 179472567 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 179472567 179472567 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.45243 p.A15081 0.001 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 146 0 0 178 48 21.2389 PDE1A 0 genome.wustl.edu 37 2 183094749 183094749 + Missense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 183094749 183094749 A C SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.707 p.L236R 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 76 0 0 83 23 21.6981 FRZB 0 genome.wustl.edu 37 2 183731002 183731002 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 183731002 183731002 C T SNP FRZB ENST00000295113 human ensembl 74_37 -1 known silent c.279 p.A93 0.802 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC ENSG00000162998 63 0 0 111 20 15.2672 WDR75 0 genome.wustl.edu 37 2 190328454 190328454 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 190328454 190328454 C T SNP WDR75 ENST00000314761 human ensembl 74_37 +1 known silent c.972 p.S324 0.808 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR75 HGNC ENSG00000115368 123 1 0.806452 145 27 15.6977 DNAH7 0 genome.wustl.edu 37 2 196759791 196759791 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 196759791 196759791 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.4805 p.R1602H 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 69 0 0 68 18 20.9302 STK17B 0 genome.wustl.edu 37 2 197008310 197008310 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 197008310 197008310 T C SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.581 p.E194G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 173 0 0 181 50 21.645 HECW2 0 genome.wustl.edu 37 2 197080603 197080603 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 197080603 197080603 G A SNP HECW2 ENST00000260983 human ensembl 74_37 -1 known silent c.4593 p.I1531 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW2 HGNC ENSG00000138411 80 0 0 97 24 19.8347 FAM117B 0 genome.wustl.edu 37 2 203620321 203620321 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 203620321 203620321 C T SNP FAM117B ENST00000392238 human ensembl 74_37 +1 known missense c.1021 p.R341W 0.998 NULL NULL - no_errors FAM117B HGNC ENSG00000138439 237 0 0 270 58 17.6829 TTLL4 0 genome.wustl.edu 37 2 219611871 219611871 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 219611871 219611871 G A SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.2120 p.R707H 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 82 0 0 71 21 22.8261 SPEG 0 genome.wustl.edu 37 2 220336640 220336640 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 220336640 220336640 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3766 p.G1256S 0.999 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 52 0 0 62 16 20.5128 STK11IP 0 genome.wustl.edu 37 2 220473425 220473425 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 220473425 220473425 G A SNP STK11IP ENST00000456909 human ensembl 74_37 +1 novel missense c.1724 p.R575H 0.115 NULL NULL - no_errors STK11IP HGNC ENSG00000144589 41 0 0 54 12 18.1818 CCDC140 0 genome.wustl.edu 37 2 223168942 223168942 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 223168942 223168942 G A SNP CCDC140 ENST00000295226 human ensembl 74_37 +1 known silent c.321 p.A107 0.000 NULL NULL - no_errors CCDC140 HGNC ENSG00000163081 42 0 0 50 17 25.3731 MFF 0 genome.wustl.edu 37 2 228195480 228195480 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 228195480 228195480 C T SNP MFF ENST00000353339 human ensembl 74_37 +1 known silent c.177 p.N59 0.836 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 63 0 0 83 22 20.9524 GPR55 0 genome.wustl.edu 37 2 231775009 231775009 + Silent SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 231775009 231775009 G T SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known silent c.669 p.A223 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 128 0 0 170 26 13.2653 NGEF 0 genome.wustl.edu 37 2 233756178 233756178 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 233756178 233756178 G A SNP NGEF ENST00000264051 human ensembl 74_37 -1 known missense c.1162 p.R388W 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 90 0 0 110 20 15.3846 HJURP 0 genome.wustl.edu 37 2 234754463 234754463 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 234754463 234754463 C T SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.406 p.A136T 0.981 NULL pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 113 0 0 126 28 18.1818 GBX2 0 genome.wustl.edu 37 2 237074757 237074757 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 237074757 237074757 C T SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known missense c.847 p.A283T 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 145 0 0 182 37 16.895 COL6A3 0 genome.wustl.edu 37 2 238274435 238274435 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 238274435 238274435 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.5744 p.R1915Q 0.000 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 119 0 0 164 28 14.5833 ATAD2B 0 genome.wustl.edu 37 2 24103515 24103515 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 24103515 24103515 G A SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known missense c.895 p.P299S 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 23 0 0 31 6 16.2162 AGXT 0 genome.wustl.edu 37 2 241818169 241818169 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 241818169 241818169 C T SNP AGXT ENST00000307503 human ensembl 74_37 +1 known silent c.1110 p.R370 0.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT HGNC ENSG00000172482 9 0 0 10 4 28.5714 SNED1 0 genome.wustl.edu 37 2 242009422 242009422 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 242009422 242009422 T C SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known missense c.3395 p.L1132S 0.003 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 38 0 0 61 12 16.4384 PDCD1 0 genome.wustl.edu 37 2 242793372 242793372 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 242793372 242793372 C T SNP PDCD1 ENST00000334409 human ensembl 74_37 -1 known silent c.705 p.P235 0.993 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 55 0 0 72 29 28.7129 OTOF 0 genome.wustl.edu 37 2 26688695 26688695 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 26688695 26688695 C A SNP OTOF ENST00000272371 human ensembl 74_37 -1 known missense c.4644 p.E1548D 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_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 68 0 0 102 20 16.3934 TRIM54 0 genome.wustl.edu 37 2 27521604 27521604 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 27521604 27521604 C T SNP TRIM54 ENST00000296098 human ensembl 74_37 +1 known missense c.338 p.S113F 0.908 NULL pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM54 HGNC ENSG00000138100 42 0 0 58 9 13.4328 IFT172 0 genome.wustl.edu 37 2 27703932 27703932 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 27703932 27703932 C T SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.766 p.V256M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 59 0 0 64 15 18.9873 PREPL 0 genome.wustl.edu 37 2 44549925 44549925 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 44549925 44549925 A T SNP PREPL ENST00000260648 human ensembl 74_37 -1 known missense c.1965 p.S655R 0.532 pfam_Peptidase_S9,prints_Peptidase_S9A pfam_Peptidase_S9,pfam_Pept_S9A_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 273 0 0 326 30 8.42697 TTC7A 0 genome.wustl.edu 37 2 47202114 47202114 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 47202114 47202114 C A SNP TTC7A ENST00000319190 human ensembl 74_37 +1 known missense c.520 p.L174I 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7A HGNC ENSG00000068724 134 0 0 134 30 18.2927 MSH6 0 genome.wustl.edu 37 2 48018188 48018188 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 48018188 48018188 G A SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.383 p.R128H 0.708 pfam_PWWP_dom,smart_PWWP_dom,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 162 0 0 161 32 16.5803 SPTBN1 0 genome.wustl.edu 37 2 54876812 54876812 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 54876812 54876812 G A SNP SPTBN1 ENST00000356805 human ensembl 74_37 +1 known missense c.5263 p.V1755M 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 42 0 0 91 17 15.7407 EFEMP1 0 genome.wustl.edu 37 2 56098226 56098226 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 56098226 56098226 G A SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.1033 p.R345W 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 107 0 0 104 24 18.75 CCDC85A 0 genome.wustl.edu 37 2 56420402 56420402 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 56420402 56420402 G A SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.1067 p.G356D 1.000 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 47 0 0 72 12 14.2857 MDH1 0 genome.wustl.edu 37 2 63832498 63832498 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 63832498 63832498 G A SNP MDH1 ENST00000539945 human ensembl 74_37 +1 known missense c.814 p.V272I 0.997 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_NAD-dep_euk,tigrfam_Malate_DH_type2 - no_errors MDH1 HGNC ENSG00000014641 72 0 0 88 18 16.9811 PROKR1 0 genome.wustl.edu 37 2 68873189 68873189 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 68873189 68873189 G A SNP PROKR1 ENST00000303786 human ensembl 74_37 +1 known missense c.236 p.G79E 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR1 HGNC ENSG00000169618 266 0 0 283 59 17.2515 ARHGAP25 0 genome.wustl.edu 37 2 69014990 69014990 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 69014990 69014990 G A SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known missense c.368 p.R123H 0.666 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 162 0 0 217 39 15.2344 ARHGAP25 0 genome.wustl.edu 37 2 69034552 69034552 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 69034552 69034552 A G SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known missense c.614 p.D205G 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 111 0 0 119 30 20.1342 TGFA 0 genome.wustl.edu 37 2 70741999 70741999 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 70741999 70741999 G A SNP TGFA ENST00000295400 human ensembl 74_37 -1 known missense c.86 p.P29L 0.070 NULL pfscan_EG-like_dom - no_errors TGFA HGNC ENSG00000163235 23 0 0 32 6 15.7895 ALMS1 0 genome.wustl.edu 37 2 73681186 73681186 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 73681186 73681186 G A SNP ALMS1 ENST00000264448 human ensembl 74_37 +1 known missense c.7529 p.R2510Q 1.000 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 27 0 0 20 5 20 POLR1A 0 genome.wustl.edu 37 2 86292608 86292608 + RNA SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 86292608 86292608 A G SNP POLR1A ENST00000483538 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors POLR1A HGNC ENSG00000068654 109 0 0 133 33 19.8795 THNSL2 0 genome.wustl.edu 37 2 88482275 88482275 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 88482275 88482275 G A SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known missense c.860 p.R287H 0.001 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 98 0 0 103 34 24.8175 NCAPH 0 genome.wustl.edu 37 2 97019989 97019989 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 97019989 97019989 C T SNP NCAPH ENST00000240423 human ensembl 74_37 +1 known silent c.1071 p.D357 0.031 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 245 0 0 271 73 21.2209 KIAA1211L 0 genome.wustl.edu 37 2 99439344 99439344 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 99439344 99439344 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known silent c.1392 p.A464 0.647 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 34 0 0 50 17 25.3731 SPTLC3 0 genome.wustl.edu 37 20 13071817 13071817 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 13071817 13071817 G A SNP SPTLC3 ENST00000399002 human ensembl 74_37 +1 known missense c.694 p.A232T 1.000 pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC3 HGNC ENSG00000172296 159 0 0 152 32 17.3913 SEL1L2 0 genome.wustl.edu 37 20 13847380 13847380 + Nonsense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 13847380 13847380 C A SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known nonsense c.1372 p.G458* 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 189 0 0 240 41 14.5907 FLRT3 0 genome.wustl.edu 37 20 14306569 14306569 + Silent SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 14306569 14306569 A C SNP FLRT3 ENST00000341420 human ensembl 74_37 -1 known silent c.1584 p.P528 0.966 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT3 HGNC ENSG00000125848 158 0 0 158 20 11.236 SIRPD 0 genome.wustl.edu 37 20 1532450 1532450 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 1532450 1532450 C T SNP SIRPD ENST00000381623 human ensembl 74_37 -1 known missense c.308 p.R103H 0.020 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIRPD HGNC ENSG00000125900 140 0 0 127 26 16.9935 PAX1 0 genome.wustl.edu 37 20 21687260 21687260 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 21687260 21687260 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known silent c.471 p.T157 0.005 pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 111 0 0 146 32 17.9775 XKR7 0 genome.wustl.edu 37 20 30585220 30585220 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 30585220 30585220 G T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1700 p.G567V 0.998 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 116 0 0 132 24 15.3846 DNMT3B 0 genome.wustl.edu 37 20 31386314 31386314 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 31386314 31386314 G A SNP DNMT3B ENST00000328111 human ensembl 74_37 +1 known silent c.1539 p.A513 0.000 superfamily_Znf_FYVE_PHD pfam_PWWP_dom,pfam_C5_MeTfrase,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,pfscan_PWWP_dom - no_errors DNMT3B HGNC ENSG00000088305 85 0 0 83 13 13.5417 BPIFB6 0 genome.wustl.edu 37 20 31619533 31619533 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 31619533 31619533 G A SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.80 p.G27D 1.000 pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 57 0 0 68 11 13.9241 KIAA1755 0 genome.wustl.edu 37 20 36841597 36841597 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 36841597 36841597 G A SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known silent c.3450 p.R1150 0.000 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 87 0 0 86 16 15.6863 SLC32A1 0 genome.wustl.edu 37 20 37356214 37356214 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 37356214 37356214 G A SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.510 p.L170 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 107 0 0 115 26 18.4397 CENPB 0 genome.wustl.edu 37 20 3766632 3766632 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 3766632 3766632 C T SNP CENPB ENST00000379751 human ensembl 74_37 -1 known missense c.499 p.G167R 0.131 NULL pfam_Centromere_CenpB_dimerisation,pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_Psq,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors CENPB HGNC ENSG00000125817 19 0 0 29 8 21.6216 MMP9 0 genome.wustl.edu 37 20 44639240 44639240 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 44639240 44639240 G A SNP MMP9 ENST00000372330 human ensembl 74_37 +1 known missense c.490 p.A164T 0.993 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin-like_repeat,pfam_PT,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin-like_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A - no_errors MMP9 HGNC ENSG00000100985 37 0 0 43 10 18.8679 SLC2A10 0 genome.wustl.edu 37 20 45353775 45353775 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 45353775 45353775 C T SNP SLC2A10 ENST00000359271 human ensembl 74_37 +1 known silent c.100 p.L34 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A10 HGNC ENSG00000197496 101 0 0 117 37 24.026 ZMYND8 0 genome.wustl.edu 37 20 45853197 45853197 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 45853197 45853197 G A SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.3050 p.A1017V 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 182 0 0 210 56 21.0526 ADNP 0 genome.wustl.edu 37 20 49510461 49510461 + Silent SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 49510461 49510461 G T SNP ADNP ENST00000349014 human ensembl 74_37 -1 known silent c.790 p.R264 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 83 0 0 73 17 18.8889 ZNF217 0 genome.wustl.edu 37 20 52199236 52199236 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 52199236 52199236 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.130 p.A44T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 101 0 0 128 22 14.6667 CTCFL 0 genome.wustl.edu 37 20 56099084 56099084 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 56099084 56099084 C T SNP CTCFL ENST00000423479 human ensembl 74_37 -1 known missense c.178 p.V60I 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCFL HGNC ENSG00000124092 377 1 0.26455 402 81 16.7702 APCDD1L 0 genome.wustl.edu 37 20 57035905 57035905 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 57035905 57035905 T C SNP APCDD1L ENST00000439429 human ensembl 74_37 -1 known missense c.1480 p.I494V 0.000 NULL NULL - no_errors APCDD1L HGNC ENSG00000198768 78 0 0 79 22 21.7822 LAMA5 0 genome.wustl.edu 37 20 60895632 60895632 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 60895632 60895632 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.6742 p.R2248W 0.000 pfam_Laminin_I pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 16 0 0 27 3 10 SLC17A9 0 genome.wustl.edu 37 20 61598484 61598484 + RNA SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 61598484 61598484 C A SNP SLC17A9 ENST00000488738 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SLC17A9 HGNC ENSG00000101194 16 0 0 9 6 40 CHRNA4 0 genome.wustl.edu 37 20 61981936 61981936 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 61981936 61981936 G A SNP CHRNA4 ENST00000370263 human ensembl 74_37 -1 known missense c.827 p.T276M 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA4 HGNC ENSG00000101204 82 0 0 120 26 17.8082 HAO1 0 genome.wustl.edu 37 20 7875863 7875863 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 7875863 7875863 C T SNP HAO1 ENST00000378789 human ensembl 74_37 -1 known missense c.730 p.A244T 1.000 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 133 0 0 150 30 16.6667 PLCB1 0 genome.wustl.edu 37 20 8696934 8696934 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 8696934 8696934 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1274 p.A425V 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 74 0 0 75 16 17.5824 GRIK1 0 genome.wustl.edu 37 21 31311854 31311854 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 31311854 31311854 G A SNP GRIK1 ENST00000472429 human ensembl 74_37 -1 known rna NULL NULL 0.090 - - - no_errors GRIK1 HGNC ENSG00000171189 33 0 0 20 10 33.3333 KRTAP24-1 0 genome.wustl.edu 37 21 31655009 31655009 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 31655009 31655009 C T SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known missense c.242 p.C81Y 0.065 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 102 0 0 138 32 18.8235 KRTAP6-3 0 genome.wustl.edu 37 21 31965058 31965058 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 31965058 31965058 C T SNP KRTAP6-3 ENST00000391624 human ensembl 74_37 +1 known silent c.273 p.C91 0.445 NULL NULL - no_errors KRTAP6-3 HGNC ENSG00000212938 17 0 0 26 5 16.129 SYNJ1 0 genome.wustl.edu 37 21 34058147 34058147 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 34058147 34058147 C A SNP SYNJ1 ENST00000433931 human ensembl 74_37 -1 known missense c.1146 p.K382N 0.436 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC ENSG00000159082 126 0 0 111 27 19.5652 DSCAM 0 genome.wustl.edu 37 21 41385022 41385022 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 41385022 41385022 A G SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.5978 p.L1993P 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 53 0 0 60 18 23.0769 DSCAM 0 genome.wustl.edu 37 21 41561090 41561090 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 41561090 41561090 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known missense c.2432 p.A811V 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 148 0 0 162 37 18.593 TFF2 0 genome.wustl.edu 37 21 43771089 43771089 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 43771089 43771089 G A SNP TFF2 ENST00000463771 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TFF2 HGNC ENSG00000160181 75 0 0 79 17 17.7083 CRYAA 0 genome.wustl.edu 37 21 44589335 44589335 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 44589335 44589335 C T SNP CRYAA ENST00000291554 human ensembl 74_37 +1 known silent c.126 p.S42 1.000 pfam_Alpha-crystallin_N pfam_a-crystallin/Hsp20_dom,pfam_Alpha-crystallin_N,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom,prints_Alpha-crystallin/HSP - no_errors CRYAA HGNC ENSG00000160202 265 0 0 275 63 18.6391 KRTAP10-2 0 genome.wustl.edu 37 21 45971248 45971248 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 45971248 45971248 C T SNP KRTAP10-2 ENST00000391621 human ensembl 74_37 -1 known missense c.94 p.G32S 0.999 NULL NULL - no_errors KRTAP10-2 HGNC ENSG00000205445 130 0 0 153 33 17.7419 KRTAP12-2 0 genome.wustl.edu 37 21 46086433 46086433 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 46086433 46086433 C A SNP KRTAP12-2 ENST00000360770 human ensembl 74_37 -1 known missense c.371 p.G124V 0.104 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP12-2 HGNC ENSG00000221864 117 0 0 104 23 18.1102 COL18A1 0 genome.wustl.edu 37 21 46924384 46924384 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 46924384 46924384 G A SNP COL18A1 ENST00000359759 human ensembl 74_37 +1 known missense c.4027 p.G1343R 0.924 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 32 0 0 32 6 15.7895 MCM3AP 0 genome.wustl.edu 37 21 47685900 47685900 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 47685900 47685900 G A SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known silent c.2970 p.I990 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 233 0 0 262 66 20.122 TRMT2A 0 genome.wustl.edu 37 22 20100722 20100722 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 20100722 20100722 C T SNP TRMT2A ENST00000252136 human ensembl 74_37 -1 known missense c.1468 p.E490K 0.998 pfam_U5_MeTrfase,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 81 0 0 86 23 21.1009 SCARF2 0 genome.wustl.edu 37 22 20780227 20780227 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 20780227 20780227 C T SNP SCARF2 ENST00000405555 human ensembl 74_37 -1 known missense c.2036 p.R679H 0.000 NULL pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF2 HGNC ENSG00000244486 35 0 0 37 11 22.9167 KLHL22 0 genome.wustl.edu 37 22 20800951 20800951 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 20800951 20800951 C T SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.1318 p.A440T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 112 0 0 130 24 15.5844 SLC7A4 0 genome.wustl.edu 37 22 21384385 21384385 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 21384385 21384385 C T SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.1238 p.R413H 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 26 0 0 39 5 11.3636 TOP3B 0 genome.wustl.edu 37 22 22319678 22319678 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 22319678 22319678 G A SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.922 p.R308C 0.979 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 33 0 0 26 8 23.5294 ENSG00000207834 0 genome.wustl.edu 37 22 23006960 23006960 + RNA SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 23006960 23006960 C A SNP ENSG00000207834 ENST00000385099 human ensembl 74_37 +1 novel rna NULL NULL 0.876 - - - no_errors D86994.2 Clone_based_ensembl_gene ENSG00000207834 8 0 0 19 6 24 ENSG00000207834 0 genome.wustl.edu 37 22 23006961 23006961 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 23006961 23006961 C T SNP ENSG00000207834 ENST00000385099 human ensembl 74_37 +1 novel rna NULL NULL 0.759 - - - no_errors D86994.2 Clone_based_ensembl_gene ENSG00000207834 8 0 0 19 6 24 GNAZ 0 genome.wustl.edu 37 22 23438372 23438372 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 23438372 23438372 G A SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.490 p.A164T 0.890 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 94 0 0 144 27 15.7895 BCR 0 genome.wustl.edu 37 22 23523754 23523754 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 23523754 23523754 C A SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.607 p.L203M 1.000 NULL pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 96 0 0 117 30 20.4082 ZDHHC8P1 0 genome.wustl.edu 37 22 23741971 23741971 + RNA SNP C C G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 23741971 23741971 C G SNP ZDHHC8P1 ENST00000255890 human ensembl 74_37 -1 known rna NULL NULL 0.867 - - - no_errors ZDHHC8P1 HGNC ENSG00000133519 10 0 0 19 8 29.6296 GGT1 0 genome.wustl.edu 37 22 25024147 25024147 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 25024147 25024147 C T SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.1436 p.T479M 1.000 pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 137 0 0 177 30 14.4928 LIF 0 genome.wustl.edu 37 22 30639661 30639661 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 30639661 30639661 G A SNP LIF ENST00000249075 human ensembl 74_37 -1 known silent c.588 p.A196 0.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin,prints_Leukemia_IF - no_errors LIF HGNC ENSG00000128342 136 0 0 172 41 19.2488 OSM 0 genome.wustl.edu 37 22 30661062 30661062 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 30661062 30661062 G A SNP OSM ENST00000215781 human ensembl 74_37 -1 known missense c.106 p.R36C 0.000 pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin pfam_Leukemia_IF/oncostatin,superfamily_4_helix_cytokine-like_core,smart_Leukemia_IF/oncostatin - no_errors OSM HGNC ENSG00000099985 221 0 0 264 28 9.58904 GAL3ST1 0 genome.wustl.edu 37 22 30951307 30951307 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 30951307 30951307 A G SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.905 p.M302T 0.393 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 25 0 0 46 12 20.6897 MCM5 0 genome.wustl.edu 37 22 35808554 35808554 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 35808554 35808554 G A SNP MCM5 ENST00000216122 human ensembl 74_37 +1 known missense c.971 p.R324H 0.994 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase - no_errors MCM5 HGNC ENSG00000100297 152 0 0 169 42 19.9052 MYH9 0 genome.wustl.edu 37 22 36723530 36723530 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 36723530 36723530 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.494 p.R165Q 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 52 0 0 66 18 21.4286 FOXRED2 0 genome.wustl.edu 37 22 36902310 36902310 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 36902310 36902310 G A SNP FOXRED2 ENST00000216187 human ensembl 74_37 -1 known missense c.160 p.R54C 0.905 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FOXRED2 HGNC ENSG00000100350 41 0 0 47 6 11.3208 TRIOBP 0 genome.wustl.edu 37 22 38130975 38130975 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 38130975 38130975 G A SNP TRIOBP ENST00000406386 human ensembl 74_37 +1 known silent c.4632 p.A1544 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 121 0 0 161 37 18.6869 APOBEC3G 0 genome.wustl.edu 37 22 39477083 39477083 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 39477083 39477083 C T SNP APOBEC3G ENST00000407997 human ensembl 74_37 +1 known missense c.317 p.T106M 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3G HGNC ENSG00000239713 127 0 0 138 29 17.3653 RPL3 0 genome.wustl.edu 37 22 39710758 39710758 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 39710758 39710758 C T SNP RPL3 ENST00000216146 human ensembl 74_37 -1 known missense c.782 p.R261H 1.000 pfam_Ribosomal_L3,superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3 HGNC ENSG00000100316 83 0 0 98 24 19.6721 TCF20 0 genome.wustl.edu 37 22 42608248 42608248 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 42608248 42608248 G A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.3064 p.R1022W 0.895 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 89 0 0 99 17 14.6552 PACSIN2 0 genome.wustl.edu 37 22 43272302 43272302 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 43272302 43272302 C T SNP PACSIN2 ENST00000263246 human ensembl 74_37 -1 known missense c.1189 p.D397N 1.000 superfamily_SH3_domain pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PACSIN2 HGNC ENSG00000100266 72 0 0 120 21 14.8936 ATXN10 0 genome.wustl.edu 37 22 46085740 46085740 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 46085740 46085740 C T SNP ATXN10 ENST00000252934 human ensembl 74_37 +1 known missense c.265 p.R89C 0.612 superfamily_ARM-type_fold pfam_Ataxin-10_domain,superfamily_ARM-type_fold - no_errors ATXN10 HGNC ENSG00000130638 93 0 0 93 18 16.2162 CELSR1 0 genome.wustl.edu 37 22 46792521 46792521 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 46792521 46792521 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.5824 p.G1942R 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 41 0 0 45 13 22.4138 PANX2 0 genome.wustl.edu 37 22 50615987 50615987 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 50615987 50615987 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known silent c.846 p.P282 0.530 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 50 0 0 58 19 24.6753 SELO 0 genome.wustl.edu 37 22 50649342 50649342 + Splice_Site SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 50649342 50649342 T C SNP SELO ENST00000492092 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors SELO Uniprot_gn ENSG00000073169 193 0 0 225 52 18.7726 SBF1 0 genome.wustl.edu 37 22 50885774 50885774 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 50885774 50885774 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.5560 p.V1854M 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 122 0 0 146 30 17.0455 RPL23AP82 0 genome.wustl.edu 37 22 51237224 51237224 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 51237224 51237224 G A SNP RPL23AP82 ENST00000462238 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors AC002055.4 Clone_based_vega_gene ENSG00000184319 65 0 0 73 17 18.8889 HRH1 0 genome.wustl.edu 37 3 11301418 11301418 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 11301418 11301418 C A SNP HRH1 ENST00000397056 human ensembl 74_37 +1 known missense c.695 p.P232H 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H1_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH1 HGNC ENSG00000196639 129 0 0 133 39 22.6744 TAMM41 0 genome.wustl.edu 37 3 11871205 11871205 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 11871205 11871205 G A SNP TAMM41 ENST00000273037 human ensembl 74_37 -1 known missense c.545 p.A182V 0.999 pfam_Mmp37,pirsf_Mmp37 pfam_Mmp37,pirsf_Mmp37 - no_errors TAMM41 HGNC ENSG00000144559 219 1 0.454545 232 54 18.8811 POLQ 0 genome.wustl.edu 37 3 121207935 121207935 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 121207935 121207935 C T SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.3843 p.Q1281 0.098 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 211 0 0 224 73 24.5791 SYN2 0 genome.wustl.edu 37 3 12211375 12211375 + RNA SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 12211375 12211375 C A SNP SYN2 ENST00000425297 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SYN2 HGNC ENSG00000157152 22 0 0 22 4 15.3846 CCDC14 0 genome.wustl.edu 37 3 123666111 123666111 + Missense_Mutation SNP G G C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 123666111 123666111 G C SNP CCDC14 ENST00000488653 human ensembl 74_37 -1 known missense c.884 p.A295G 0.224 NULL NULL - no_errors CCDC14 HGNC ENSG00000175455 76 0 0 87 23 20.9091 SNX4 0 genome.wustl.edu 37 3 125216990 125216990 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 125216990 125216990 C T SNP SNX4 ENST00000251775 human ensembl 74_37 -1 known nonsense c.312 p.W104* 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX4 HGNC ENSG00000114520 87 0 0 120 43 26.3804 TSEN2 0 genome.wustl.edu 37 3 12545181 12545181 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 12545181 12545181 C T SNP TSEN2 ENST00000284995 human ensembl 74_37 +1 known silent c.729 p.I243 0.000 pirsf_tRNA_splic_SEN2 pfam_tRNA_intron_Endonuc_cat-like,pfam_tRNA_intron_Endonuc_N,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN2 - no_errors TSEN2 HGNC ENSG00000154743 33 0 0 34 11 24.4444 KLF15 0 genome.wustl.edu 37 3 126071104 126071104 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 126071104 126071104 A G SNP KLF15 ENST00000296233 human ensembl 74_37 -1 known missense c.662 p.L221P 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF15 HGNC ENSG00000163884 23 0 0 16 7 30.4348 PLXNA1 0 genome.wustl.edu 37 3 126736387 126736387 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 126736387 126736387 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.3396 p.N1132 0.995 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 279 0 0 331 80 19.4647 DNAJB8 0 genome.wustl.edu 37 3 128181483 128181483 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 128181483 128181483 G A SNP DNAJB8 ENST00000319153 human ensembl 74_37 -1 known silent c.606 p.N202 0.997 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB8 HGNC ENSG00000179407 181 0 0 176 51 22.467 CAND2 0 genome.wustl.edu 37 3 12869032 12869032 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 12869032 12869032 C A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known missense c.3304 p.L1102M 1.000 pfam_TATA-bd_TIP120,superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 140 0 0 155 36 18.8482 FAM86HP 0 genome.wustl.edu 37 3 129821709 129821709 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 129821709 129821709 G A SNP FAM86HP ENST00000511564 human ensembl 74_37 -1 known rna NULL NULL 0.460 - - - no_errors FAM86HP HGNC ENSG00000253540 88 0 0 119 19 13.7681 TOPBP1 0 genome.wustl.edu 37 3 133327401 133327401 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 133327401 133327401 T C SNP TOPBP1 ENST00000260810 human ensembl 74_37 -1 known missense c.4403 p.Y1468C 1.000 superfamily_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 123 0 0 131 25 16.0256 NUP210 0 genome.wustl.edu 37 3 13381471 13381471 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 13381471 13381471 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.3354 p.S1118 0.000 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 239 0 0 229 77 25.1634 NCK1 0 genome.wustl.edu 37 3 136665004 136665004 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 136665004 136665004 T C SNP NCK1 ENST00000288986 human ensembl 74_37 +1 known missense c.806 p.I269T 1.000 pirsf_Cytoplasmic_NCK pfam_SH3_domain,pfam_SH3_2,pfam_SH2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pirsf_Cytoplasmic_NCK,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors NCK1 HGNC ENSG00000158092 287 0 0 292 57 16.3324 RBP1 0 genome.wustl.edu 37 3 139257784 139257784 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 139257784 139257784 G A SNP RBP1 ENST00000232219 human ensembl 74_37 -1 known missense c.277 p.R93C 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors RBP1 HGNC ENSG00000114115 159 0 0 178 28 13.5922 ACPL2 0 genome.wustl.edu 37 3 141011879 141011879 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 141011879 141011879 C T SNP ACPL2 ENST00000286353 human ensembl 74_37 +1 known silent c.1275 p.G425 0.001 NULL pfam_His_Pase_superF_clade-2 - no_errors ACPL2 HGNC ENSG00000155893 154 0 0 186 44 19.1304 RASA2 0 genome.wustl.edu 37 3 141295889 141295889 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 141295889 141295889 C T SNP RASA2 ENST00000452898 human ensembl 74_37 +1 known missense c.1531 p.R511C 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_dom,pfam_Pleckstrin_homology,pfam_Znf_Btk_motif,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA2 HGNC ENSG00000155903 219 1 0.454545 211 45 17.5781 XRN1 0 genome.wustl.edu 37 3 142166864 142166864 + RNA SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 142166864 142166864 T C SNP XRN1 ENST00000465074 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors XRN1 HGNC ENSG00000114127 35 0 0 53 11 17.1875 ANKRD28 0 genome.wustl.edu 37 3 15765943 15765943 + Silent SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 15765943 15765943 T G SNP ANKRD28 ENST00000383777 human ensembl 74_37 -1 known silent c.738 p.A246 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD28 HGNC ENSG00000206560 17 0 0 18 3 14.2857 GPR160 0 genome.wustl.edu 37 3 169802275 169802275 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 169802275 169802275 G A SNP GPR160 ENST00000355897 human ensembl 74_37 +1 known missense c.515 p.R172H 0.000 pfscan_GPCR_Rhodpsn_7TM pfscan_GPCR_Rhodpsn_7TM - no_errors GPR160 HGNC ENSG00000173890 73 0 0 91 22 19.469 USP13 0 genome.wustl.edu 37 3 179474922 179474922 + RNA SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 179474922 179474922 A T SNP USP13 ENST00000482333 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors USP13 HGNC ENSG00000058056 122 0 0 143 25 14.881 PEX5L 0 genome.wustl.edu 37 3 179519507 179519507 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 179519507 179519507 G A SNP PEX5L ENST00000467440 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors PEX5L HGNC ENSG00000114757 22 0 0 30 7 18.9189 CCDC39 0 genome.wustl.edu 37 3 180364954 180364954 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 180364954 180364954 A G SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known silent c.1440 p.L480 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 57 0 0 53 14 20.8955 FAM131A 0 genome.wustl.edu 37 3 184062384 184062384 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 184062384 184062384 G A SNP FAM131A ENST00000383847 human ensembl 74_37 +1 known missense c.727 p.D243N 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 161 0 0 178 51 22.2707 IGF2BP2 0 genome.wustl.edu 37 3 185363326 185363326 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 185363326 185363326 C T SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known missense c.1793 p.S598N 1.000 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP2 HGNC ENSG00000073792 73 0 0 118 28 19.1781 BCL6 0 genome.wustl.edu 37 3 187447327 187447327 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 187447327 187447327 C T SNP BCL6 ENST00000232014 human ensembl 74_37 -1 known missense c.866 p.R289Q 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors BCL6 HGNC ENSG00000113916 166 0 0 188 51 21.3389 CLDN1 0 genome.wustl.edu 37 3 190030818 190030818 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 190030818 190030818 C T SNP CLDN1 ENST00000295522 human ensembl 74_37 -1 known silent c.231 p.L77 0.923 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14 - no_errors CLDN1 HGNC ENSG00000163347 287 0 0 267 69 20.5357 KCNH8 0 genome.wustl.edu 37 3 19436644 19436644 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 19436644 19436644 C T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.1018 p.R340C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 157 0 0 172 41 19.2488 PCYT1A 0 genome.wustl.edu 37 3 195975116 195975116 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 195975116 195975116 G A SNP PCYT1A ENST00000292823 human ensembl 74_37 -1 known missense c.296 p.A99V 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,superfamily_NA-bd_OB-fold,tigrfam_Cyt_trans-like - no_errors PCYT1A HGNC ENSG00000161217 185 0 0 165 48 22.5352 MFI2 0 genome.wustl.edu 37 3 196736547 196736547 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 196736547 196736547 G A SNP MFI2 ENST00000296350 human ensembl 74_37 -1 known silent c.1467 p.P489 0.967 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors MFI2 HGNC ENSG00000163975 109 0 0 133 23 14.7436 ZNF385D 0 genome.wustl.edu 37 3 21552413 21552413 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 21552413 21552413 C T SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.379 p.A127T 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 137 0 0 157 40 20.3046 MLH1 0 genome.wustl.edu 37 3 37090086 37090086 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 37090086 37090086 C T SNP MLH1 ENST00000231790 human ensembl 74_37 +1 known nonsense c.1975 p.R659* 1.000 NULL pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 70 0 0 84 21 20 CTDSPL 0 genome.wustl.edu 37 3 37998618 37998618 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 37998618 37998618 T C SNP CTDSPL ENST00000273179 human ensembl 74_37 +1 known missense c.251 p.V84A 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL HGNC ENSG00000144677 82 0 0 82 15 15.4639 XIRP1 0 genome.wustl.edu 37 3 39227527 39227527 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 39227527 39227527 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.3410 p.T1137I 0.970 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 184 0 0 184 39 17.4888 XCR1 0 genome.wustl.edu 37 3 46062693 46062693 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 46062693 46062693 C T SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known silent c.747 p.T249 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 89 0 0 93 16 14.6789 SHISA5 0 genome.wustl.edu 37 3 48510563 48510563 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 48510563 48510563 G A SNP SHISA5 ENST00000296444 human ensembl 74_37 -1 known silent c.666 p.P222 0.929 NULL NULL - no_errors SHISA5 HGNC ENSG00000164054 77 0 0 120 31 20.5298 WDR6 0 genome.wustl.edu 37 3 49049119 49049119 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 49049119 49049119 G A SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.242 p.R81Q 0.446 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 518 0 0 561 124 18.1022 AMT 0 genome.wustl.edu 37 3 49454819 49454819 + RNA SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 49454819 49454819 G T SNP AMT ENST00000476226 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AMT HGNC ENSG00000145020 126 0 0 148 37 20 DAG1 0 genome.wustl.edu 37 3 49568875 49568875 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 49568875 49568875 C T SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.931 p.R311W 1.000 NULL pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 143 0 0 170 43 20.1878 ZMYND10 0 genome.wustl.edu 37 3 50379246 50379246 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 50379246 50379246 C T SNP ZMYND10 ENST00000231749 human ensembl 74_37 -1 known silent c.1116 p.A372 0.001 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ENSG00000004838 67 0 0 94 32 25.3968 DOCK3 0 genome.wustl.edu 37 3 51273835 51273835 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 51273835 51273835 C T SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.1977 p.Y659 0.826 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 95 0 0 95 14 12.844 RBM15B 0 genome.wustl.edu 37 3 51431126 51431126 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 51431126 51431126 G A SNP RBM15B ENST00000323686 human ensembl 74_37 +1 known missense c.2296 p.A766T 1.000 pfam_SPOC_C,superfamily_SPOC_like_C_dom,pfscan_SPOC_met pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors RBM15B HGNC ENSG00000179837 103 0 0 127 43 25.2941 GPR62 0 genome.wustl.edu 37 3 51990299 51990299 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 51990299 51990299 C T SNP GPR62 ENST00000322241 human ensembl 74_37 +1 known missense c.631 p.R211C 0.117 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR62 HGNC ENSG00000180929 20 0 0 16 7 30.4348 CCDC66 0 genome.wustl.edu 37 3 56651196 56651196 + Nonsense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 56651196 56651196 G T SNP CCDC66 ENST00000394672 human ensembl 74_37 +1 known nonsense c.1900 p.E634* 0.005 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 77 0 0 77 24 23.7624 PTPRG 0 genome.wustl.edu 37 3 62189088 62189088 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 62189088 62189088 C T SNP PTPRG ENST00000474889 human ensembl 74_37 +1 known missense c.1619 p.T540M 0.788 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC ENSG00000144724 18 0 0 25 8 24.2424 ATXN7 0 genome.wustl.edu 37 3 63973914 63973914 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 63973914 63973914 G A SNP ATXN7 ENST00000398590 human ensembl 74_37 +1 known silent c.1275 p.P425 1.000 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 330 1 0.302115 364 98 21.2121 EOGT 0 genome.wustl.edu 37 3 69053564 69053564 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 69053564 69053564 C T SNP EOGT ENST00000383701 human ensembl 74_37 -1 known silent c.585 p.T195 0.895 pfam_Glycosyltransferase_AER61 pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 86 0 0 110 19 14.7287 PDZRN3 0 genome.wustl.edu 37 3 73432925 73432925 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 73432925 73432925 C T SNP PDZRN3 ENST00000263666 human ensembl 74_37 -1 known missense c.2792 p.R931H 1.000 NULL pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 77 0 0 75 24 24.2424 ROBO1 0 genome.wustl.edu 37 3 78766491 78766491 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 78766491 78766491 T C SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.851 p.E284G 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 207 0 0 243 60 19.802 DCBLD2 0 genome.wustl.edu 37 3 98600451 98600451 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 98600451 98600451 A T SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.366 p.D122E 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 201 0 0 239 48 16.7247 ZNF518B 0 genome.wustl.edu 37 4 10445916 10445916 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 10445916 10445916 C T SNP ZNF518B ENST00000326756 human ensembl 74_37 -1 known silent c.2037 p.P679 0.234 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ENSG00000178163 195 1 0.510204 227 48 17.4545 PAPSS1 0 genome.wustl.edu 37 4 108565999 108565999 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 108565999 108565999 C T SNP PAPSS1 ENST00000265174 human ensembl 74_37 -1 known missense c.1465 p.A489T 1.000 pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC ENSG00000138801 98 0 0 93 18 16.2162 PITX2 0 genome.wustl.edu 37 4 111553569 111553569 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 111553569 111553569 C T SNP PITX2 ENST00000354925 human ensembl 74_37 -1 known silent c.114 p.T38 0.044 pirsf_Homeobox_Pitx/unc30 pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PITX2 HGNC ENSG00000164093 113 0 0 102 16 13.5593 UGT8 0 genome.wustl.edu 37 4 115544628 115544628 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 115544628 115544628 G A SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known missense c.592 p.G198S 0.945 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 154 0 0 192 20 9.43396 PRSS12 0 genome.wustl.edu 37 4 119203326 119203326 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 119203326 119203326 T C SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.2393 p.Y798C 0.949 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 169 0 0 178 54 23.2759 PRDM5 0 genome.wustl.edu 37 4 121738035 121738035 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 121738035 121738035 C T SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.695 p.R232Q 0.747 pirsf_Znf_PRDM5 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 296 0 0 334 74 18.1373 TNIP3 0 genome.wustl.edu 37 4 122075821 122075821 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 122075821 122075821 C T SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.377 p.R126H 0.000 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 60 0 0 46 8 14.8148 KIAA1109 0 genome.wustl.edu 37 4 123097031 123097031 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 123097031 123097031 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.320 p.R107Q 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 88 0 0 104 21 16.8 KIAA1109 0 genome.wustl.edu 37 4 123176343 123176343 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 123176343 123176343 C T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.6283 p.R2095C 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 130 0 0 117 27 18.75 KIAA1109 0 genome.wustl.edu 37 4 123227182 123227182 + Missense_Mutation SNP C C G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 123227182 123227182 C G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.9823 p.P3275A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 110 0 0 107 26 19.5489 BBS12 0 genome.wustl.edu 37 4 123664621 123664621 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 123664621 123664621 G A SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1574 p.R525H 0.994 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 213 0 0 215 57 20.9559 FAT4 0 genome.wustl.edu 37 4 126411904 126411904 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 126411904 126411904 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13927 p.R4643C 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 79 0 0 110 7 5.98291 PCDH10 0 genome.wustl.edu 37 4 134071459 134071459 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 134071459 134071459 C T SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.164 p.T55M 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 153 0 0 180 48 21.0526 BOD1L1 0 genome.wustl.edu 37 4 13601751 13601751 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 13601751 13601751 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6773 p.T2258M 0.118 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 38 0 0 56 16 22.2222 SLC7A11 0 genome.wustl.edu 37 4 139140513 139140513 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 139140513 139140513 G A SNP SLC7A11 ENST00000280612 human ensembl 74_37 -1 known missense c.653 p.T218M 1.000 pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease/SLC12A_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A11 HGNC ENSG00000151012 95 0 0 129 25 16.2338 CLGN 0 genome.wustl.edu 37 4 141321537 141321537 + Missense_Mutation SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 141321537 141321537 T A SNP CLGN ENST00000325617 human ensembl 74_37 -1 known missense c.668 p.D223V 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 177 0 0 153 26 14.5251 HHIP 0 genome.wustl.edu 37 4 145636548 145636548 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 145636548 145636548 C T SNP HHIP ENST00000296575 human ensembl 74_37 +1 known silent c.1644 p.S548 0.271 NULL pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 146 1 0.680272 163 30 15.544 ANAPC10 0 genome.wustl.edu 37 4 145916496 145916496 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 145916496 145916496 C T SNP ANAPC10 ENST00000502651 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANAPC10 HGNC ENSG00000164162 84 0 0 77 16 17.2043 ZNF827 0 genome.wustl.edu 37 4 146697029 146697029 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 146697029 146697029 C T SNP ZNF827 ENST00000508784 human ensembl 74_37 -1 known missense c.2605 p.V869M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF827 HGNC ENSG00000151612 102 0 0 136 38 21.8391 KIAA0922 0 genome.wustl.edu 37 4 154548824 154548824 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 154548824 154548824 G A SNP KIAA0922 ENST00000409959 human ensembl 74_37 +1 known missense c.4192 p.V1398I 0.003 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC ENSG00000121210 61 0 0 79 20 20.202 TLR2 0 genome.wustl.edu 37 4 154625419 154625419 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 154625419 154625419 T C SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.1360 p.C454R 0.998 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 159 0 0 171 43 20.0935 GUCY1A3 0 genome.wustl.edu 37 4 156617922 156617922 + RNA SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 156617922 156617922 A G SNP GUCY1A3 ENST00000515602 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GUCY1A3 HGNC ENSG00000164116 24 0 0 19 7 26.9231 PDGFC 0 genome.wustl.edu 37 4 157684304 157684304 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 157684304 157684304 C T SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known missense c.976 p.D326N 1.000 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 125 0 0 164 37 18.408 GLRB 0 genome.wustl.edu 37 4 158065087 158065087 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 158065087 158065087 G A SNP GLRB ENST00000264428 human ensembl 74_37 +1 known missense c.880 p.A294T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRB HGNC ENSG00000109738 149 1 0.666667 140 42 23.0769 GRIA2 0 genome.wustl.edu 37 4 158233934 158233934 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 158233934 158233934 G A SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.573 p.M191I 0.770 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA2 HGNC ENSG00000120251 156 0 0 156 33 17.4603 GRIA2 0 genome.wustl.edu 37 4 158233975 158233975 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 158233975 158233975 G T SNP GRIA2 ENST00000264426 human ensembl 74_37 +1 known missense c.614 p.R205L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA2 HGNC ENSG00000120251 203 0 0 209 49 18.9922 FSTL5 0 genome.wustl.edu 37 4 162680595 162680595 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 162680595 162680595 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.695 p.H232R 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 125 0 0 123 37 23.125 TLL1 0 genome.wustl.edu 37 4 166924664 166924664 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 166924664 166924664 C T SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.754 p.H252Y 1.000 pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 130 0 0 150 34 18.4783 TLL1 0 genome.wustl.edu 37 4 167020437 167020437 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 167020437 167020437 G A SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known missense c.2665 p.G889R 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom 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 161 0 0 178 44 19.8198 DDX60 0 genome.wustl.edu 37 4 169227765 169227765 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 169227765 169227765 G A SNP DDX60 ENST00000393743 human ensembl 74_37 -1 known missense c.371 p.S124L 0.994 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC ENSG00000137628 173 0 0 148 44 22.9167 SH3RF1 0 genome.wustl.edu 37 4 170190147 170190147 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 170190147 170190147 G T SNP SH3RF1 ENST00000284637 human ensembl 74_37 -1 known missense c.217 p.L73M 0.985 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain - no_errors SH3RF1 HGNC ENSG00000154447 87 0 0 113 37 24.6667 VEGFC 0 genome.wustl.edu 37 4 177713367 177713367 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 177713367 177713367 C T SNP VEGFC ENST00000280193 human ensembl 74_37 -1 known silent c.99 p.E33 1.000 NULL pfam_PDGF/VEGF_dom,pfam_CXCXC_repeat,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors VEGFC HGNC ENSG00000150630 38 0 0 42 8 16 FGFR3 0 genome.wustl.edu 37 4 1801064 1801064 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 1801064 1801064 G A SNP FGFR3 ENST00000340107 human ensembl 74_37 +1 known missense c.193 p.G65R 0.001 pirsf_FGF_rcpt_fam,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR3 HGNC ENSG00000068078 117 0 0 118 30 20.2703 TENM3 0 genome.wustl.edu 37 4 183267888 183267888 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 183267888 183267888 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.317 p.P106L 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 42 0 0 59 12 16.9014 TRAPPC11 0 genome.wustl.edu 37 4 184614172 184614172 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 184614172 184614172 G A SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known nonsense c.2109 p.W703* 1.000 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 121 0 0 168 22 11.5789 IRF2 0 genome.wustl.edu 37 4 185340636 185340636 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 185340636 185340636 C A SNP IRF2 ENST00000393593 human ensembl 74_37 -1 known missense c.174 p.W58C 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF2 HGNC ENSG00000168310 199 1 0.5 220 45 16.9811 ZFYVE28 0 genome.wustl.edu 37 4 2343127 2343127 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 2343127 2343127 C T SNP ZFYVE28 ENST00000504743 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ZFYVE28 HGNC ENSG00000159733 11 0 0 17 7 29.1667 SEL1L3 0 genome.wustl.edu 37 4 25760663 25760663 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 25760663 25760663 C T SNP SEL1L3 ENST00000399878 human ensembl 74_37 -1 known missense c.2983 p.E995K 0.995 NULL pfam_Sel1-like,superfamily_ConA-like_lec_gl_sf,smart_Sel1-like - no_errors SEL1L3 HGNC ENSG00000091490 131 0 0 158 32 16.8421 FAM193A 0 genome.wustl.edu 37 4 2641566 2641566 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 2641566 2641566 C T SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known silent c.270 p.P90 0.185 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 71 0 0 82 19 18.8119 STIM2 0 genome.wustl.edu 37 4 27024297 27024297 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 27024297 27024297 G A SNP STIM2 ENST00000382009 human ensembl 74_37 +1 known silent c.2205 p.S735 0.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 144 0 0 152 41 21.2435 HTT 0 genome.wustl.edu 37 4 3158843 3158843 + Missense_Mutation SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 3158843 3158843 T A SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.3670 p.S1224T 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 142 0 0 166 20 10.7527 HTT 0 genome.wustl.edu 37 4 3215861 3215861 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 3215861 3215861 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.6951 p.A2317 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 43 0 0 57 7 10.9375 RELL1 0 genome.wustl.edu 37 4 37636637 37636637 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 37636637 37636637 G A SNP RELL1 ENST00000314117 human ensembl 74_37 -1 known silent c.552 p.G184 0.268 NULL pfam_TNF_rcpt_RELT - no_errors RELL1 HGNC ENSG00000181826 76 0 0 104 24 18.75 UGDH 0 genome.wustl.edu 37 4 39515753 39515753 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 39515753 39515753 A G SNP UGDH ENST00000316423 human ensembl 74_37 -1 known missense c.214 p.S72P 1.000 pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 79 0 0 94 20 17.5439 ZBTB49 0 genome.wustl.edu 37 4 4304082 4304082 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 4304082 4304082 G A SNP ZBTB49 ENST00000503703 human ensembl 74_37 +1 known missense c.197 p.R66H 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,pfscan_BTB/POZ-like - no_errors ZBTB49 HGNC ENSG00000168826 168 0 0 169 32 15.9204 FRYL 0 genome.wustl.edu 37 4 48578234 48578234 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 48578234 48578234 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.2534 p.P845L 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 72 0 0 82 20 19.6078 FRYL 0 genome.wustl.edu 37 4 48622707 48622707 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 48622707 48622707 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.263 p.T88M 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 207 0 0 200 42 17.3554 FIP1L1 0 genome.wustl.edu 37 4 54249979 54249979 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 54249979 54249979 G A SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known missense c.268 p.D90N 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 70 0 0 81 25 23.5849 FIP1L1 0 genome.wustl.edu 37 4 54325608 54325608 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 54325608 54325608 G A SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known missense c.1777 p.A593T 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 205 1 0.485437 184 45 19.6507 LPHN3 0 genome.wustl.edu 37 4 62599176 62599176 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 62599176 62599176 G A SNP LPHN3 ENST00000507625 human ensembl 74_37 +1 known missense c.1303 p.V435M 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 54 0 0 59 9 13.2353 PPP2R2C 0 genome.wustl.edu 37 4 6349592 6349592 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 6349592 6349592 C T SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known silent c.771 p.L257 1.000 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 26 0 0 33 10 23.2558 MAN2B2 0 genome.wustl.edu 37 4 6588807 6588807 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 6588807 6588807 C T SNP MAN2B2 ENST00000285599 human ensembl 74_37 +1 known missense c.476 p.T159M 1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 76 0 0 102 22 17.7419 UGT2B28 0 genome.wustl.edu 37 4 70152481 70152481 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 70152481 70152481 A G SNP UGT2B28 ENST00000335568 human ensembl 74_37 +1 known silent c.882 p.E294 0.999 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 155 0 0 181 16 8.12183 NPFFR2 0 genome.wustl.edu 37 4 73012837 73012837 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 73012837 73012837 C A SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known silent c.877 p.R293 0.995 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 226 0 0 249 56 18.3607 AFAP1 0 genome.wustl.edu 37 4 7780516 7780516 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 7780516 7780516 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.1870 p.A624T 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 219 2 0.904977 266 63 19.1489 ABLIM2 0 genome.wustl.edu 37 4 7985012 7985012 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 7985012 7985012 G A SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known silent c.1803 p.D601 0.967 superfamily_Villin_headpiece,pfscan_Villin_headpiece pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 21 0 0 17 4 19.0476 PRDM8 0 genome.wustl.edu 37 4 81123474 81123474 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 81123474 81123474 T C SNP PRDM8 ENST00000339711 human ensembl 74_37 +1 known silent c.858 p.G286 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM8 HGNC ENSG00000152784 23 0 0 42 9 17.6471 SH3TC1 0 genome.wustl.edu 37 4 8216302 8216302 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 8216302 8216302 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.476 p.A159V 0.975 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 57 0 0 84 7 7.69231 HTRA3 0 genome.wustl.edu 37 4 8307814 8307814 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 8307814 8307814 G A SNP HTRA3 ENST00000307358 human ensembl 74_37 +1 known missense c.1313 p.R438Q 1.000 superfamily_PDZ,smart_PDZ pfam_Peptidase_S1,pfam_Kazal_dom,pfam_PDZ,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA3 HGNC ENSG00000170801 72 0 0 118 21 15.1079 HELQ 0 genome.wustl.edu 37 4 84370022 84370022 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 84370022 84370022 C A SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.1105 p.A369S 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELQ HGNC ENSG00000163312 129 0 0 149 29 16.2921 WDFY3 0 genome.wustl.edu 37 4 85638104 85638104 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 85638104 85638104 C A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.7820 p.S2607I 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 159 0 0 176 32 15.3846 WDFY3 0 genome.wustl.edu 37 4 85738729 85738729 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 85738729 85738729 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.1703 p.R568Q 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 178 0 0 158 32 16.8421 PDHA2 0 genome.wustl.edu 37 4 96761910 96761910 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 96761910 96761910 C T SNP PDHA2 ENST00000295266 human ensembl 74_37 +1 known silent c.609 p.A203 0.856 pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y pfam_DH_E1,tigrfam_Pyrv_DH_E1_asu_subgrp-y - no_errors PDHA2 HGNC ENSG00000163114 105 0 0 128 22 14.6667 SLC26A1 0 genome.wustl.edu 37 4 983202 983202 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 983202 983202 G A SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.1525 p.R509C 0.000 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 10 0 0 8 3 27.2727 ST8SIA4 0 genome.wustl.edu 37 5 100147676 100147676 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 100147676 100147676 C T SNP ST8SIA4 ENST00000231461 human ensembl 74_37 -1 known missense c.955 p.D319N 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA4 HGNC ENSG00000113532 42 0 0 60 11 15.493 SLC12A7 0 genome.wustl.edu 37 5 1083980 1083980 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 1083980 1083980 C T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1009 p.A337T 0.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 69 0 0 76 20 20.8333 GFRA3 0 genome.wustl.edu 37 5 137593578 137593578 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 137593578 137593578 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.535 p.R179C 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 45 0 0 55 13 19.1176 KDM3B 0 genome.wustl.edu 37 5 137729043 137729043 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 137729043 137729043 G A SNP KDM3B ENST00000314358 human ensembl 74_37 +1 known missense c.2813 p.R938H 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3B HGNC ENSG00000120733 38 0 0 39 8 17.0213 CXXC5 0 genome.wustl.edu 37 5 139061006 139061006 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 139061006 139061006 A G SNP CXXC5 ENST00000302517 human ensembl 74_37 +1 known missense c.898 p.K300E 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC5 HGNC ENSG00000171604 249 0 0 298 33 9.96979 PSD2 0 genome.wustl.edu 37 5 139189047 139189047 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 139189047 139189047 T C SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.22 p.S8P 0.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 21 0 0 13 8 38.0952 HARS 0 genome.wustl.edu 37 5 140059380 140059380 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140059380 140059380 T C SNP HARS ENST00000504156 human ensembl 74_37 -1 known missense c.389 p.D130G 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC ENSG00000170445 67 0 0 84 12 12.5 PCDHA7 0 genome.wustl.edu 37 5 140216233 140216233 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140216233 140216233 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.2265 p.R755 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 71 0 0 75 24 24.2424 PCDHA13 0 genome.wustl.edu 37 5 140262138 140262138 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140262138 140262138 G A SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known silent c.285 p.L95 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 439 0 0 501 104 17.1901 PCDHB4 0 genome.wustl.edu 37 5 140503140 140503140 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140503140 140503140 C T SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known silent c.1560 p.Y520 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 158 0 0 228 43 15.8672 PCDHGA2 0 genome.wustl.edu 37 5 140719316 140719316 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140719316 140719316 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known missense c.778 p.R260W 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 159 1 0.625 181 41 18.4685 PCDHGA2 0 genome.wustl.edu 37 5 140720770 140720770 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140720770 140720770 C T SNP PCDHGA2 ENST00000394576 human ensembl 74_37 +1 known silent c.2232 p.D744 0.448 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 123 0 0 201 41 16.9421 PCDHGA4 0 genome.wustl.edu 37 5 140735546 140735546 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140735546 140735546 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.779 p.R260Q 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 27 0 0 38 10 20.8333 PCDHGA6 0 genome.wustl.edu 37 5 140754301 140754301 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140754301 140754301 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.651 p.G217 0.019 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 18 0 0 30 6 16.6667 PCDHGC5 0 genome.wustl.edu 37 5 140869617 140869617 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140869617 140869617 C T SNP PCDHGC5 ENST00000252087 human ensembl 74_37 +1 known silent c.810 p.D270 0.004 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 256 0 0 317 77 19.5431 PCDH12 0 genome.wustl.edu 37 5 141335044 141335044 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 141335044 141335044 G A SNP PCDH12 ENST00000231484 human ensembl 74_37 -1 known silent c.2373 p.V791 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH12 HGNC ENSG00000113555 57 0 0 60 15 20 TRIO 0 genome.wustl.edu 37 5 14363855 14363855 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 14363855 14363855 C T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known silent c.2406 p.L802 0.276 NULL pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 110 0 0 127 28 18.0645 PCYOX1L 0 genome.wustl.edu 37 5 148745703 148745703 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 148745703 148745703 G A SNP PCYOX1L ENST00000274569 human ensembl 74_37 +1 known missense c.669 p.M223I 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 30 0 0 39 6 13.3333 PPARGC1B 0 genome.wustl.edu 37 5 149210433 149210433 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 149210433 149210433 G A SNP PPARGC1B ENST00000309241 human ensembl 74_37 +1 known missense c.569 p.R190Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC ENSG00000155846 132 0 0 198 34 14.6552 GRIA1 0 genome.wustl.edu 37 5 153026617 153026617 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 153026617 153026617 C T SNP GRIA1 ENST00000448073 human ensembl 74_37 +1 known missense c.380 p.T127I 1.000 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 GRIA1 HGNC ENSG00000155511 169 0 0 202 46 18.5484 ITK 0 genome.wustl.edu 37 5 156672939 156672939 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 156672939 156672939 G A SNP ITK ENST00000422843 human ensembl 74_37 +1 known silent c.1563 p.P521 0.001 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 199 1 0.5 202 52 20.4724 ITK 0 genome.wustl.edu 37 5 156673004 156673004 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 156673004 156673004 C T SNP ITK ENST00000422843 human ensembl 74_37 +1 known missense c.1628 p.S543L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ITK HGNC ENSG00000113263 332 2 0.598802 318 58 15.4255 CYFIP2 0 genome.wustl.edu 37 5 156816213 156816213 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 156816213 156816213 G A SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.3299 p.R1100H 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 54 0 0 64 12 15.7895 EBF1 0 genome.wustl.edu 37 5 158267047 158267047 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 158267047 158267047 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.626 p.R209Q 1.000 NULL pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 125 0 0 152 27 15.0838 GABRB2 0 genome.wustl.edu 37 5 160838047 160838047 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 160838047 160838047 C T SNP GABRB2 ENST00000274547 human ensembl 74_37 -1 known missense c.475 p.A159T 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 124 0 0 134 34 20.2381 LCP2 0 genome.wustl.edu 37 5 169714973 169714973 + Splice_Site SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 169714973 169714973 C T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known splice_site c.188+1 e3+1 1.000 - - - no_errors LCP2 HGNC ENSG00000043462 59 0 0 57 14 19.7183 STC2 0 genome.wustl.edu 37 5 172744894 172744894 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 172744894 172744894 C T SNP STC2 ENST00000265087 human ensembl 74_37 -1 known missense c.865 p.E289K 0.999 NULL pfam_Stanniocalcin - no_errors STC2 HGNC ENSG00000113739 175 1 0.568182 213 60 21.978 CDHR2 0 genome.wustl.edu 37 5 176011557 176011557 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 176011557 176011557 C T SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.2275 p.R759W 0.163 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 164 1 0.606061 205 43 17.3387 HK3 0 genome.wustl.edu 37 5 176309124 176309124 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 176309124 176309124 G A SNP HK3 ENST00000292432 human ensembl 74_37 -1 known silent c.2058 p.T686 0.147 pfam_Hexokinase_C,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK3 HGNC ENSG00000160883 81 0 0 108 25 18.797 SLC34A1 0 genome.wustl.edu 37 5 176823997 176823997 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 176823997 176823997 T C SNP SLC34A1 ENST00000324417 human ensembl 74_37 +1 known silent c.1338 p.G446 0.998 pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC ENSG00000131183 86 0 0 81 23 22.1154 NHP2 0 genome.wustl.edu 37 5 177580535 177580535 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 177580535 177580535 C T SNP NHP2 ENST00000274606 human ensembl 74_37 -1 known missense c.187 p.G63R 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7Ae/L8/Nhp2,prints_H/ACA_rnp_Nhp2_euk - no_errors NHP2 HGNC ENSG00000145912 315 0 0 359 88 19.6868 ZNF354B 0 genome.wustl.edu 37 5 178311021 178311021 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 178311021 178311021 G A SNP ZNF354B ENST00000322434 human ensembl 74_37 +1 known missense c.1568 p.R523Q 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 149 0 0 129 27 17.3077 MGAT1 0 genome.wustl.edu 37 5 180218922 180218922 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 180218922 180218922 C T SNP MGAT1 ENST00000307826 human ensembl 74_37 -1 known silent c.1050 p.Q350 0.006 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors MGAT1 HGNC ENSG00000131446 86 0 0 134 36 21.1765 IRX4 0 genome.wustl.edu 37 5 1879904 1879904 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 1879904 1879904 C T SNP IRX4 ENST00000508261 human ensembl 74_37 -1 known missense c.488 p.R163H 0.973 NULL NULL - no_errors IRX4 HGNC ENSG00000113430 76 0 0 100 23 18.6992 C5orf22 0 genome.wustl.edu 37 5 31534451 31534451 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 31534451 31534451 G A SNP C5orf22 ENST00000325366 human ensembl 74_37 +1 known missense c.154 p.D52N 1.000 NULL superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 199 0 0 179 45 20.0893 CAPSL 0 genome.wustl.edu 37 5 35921207 35921207 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 35921207 35921207 G A SNP CAPSL ENST00000397366 human ensembl 74_37 -1 known missense c.16 p.R6C 0.896 NULL pfam_EF_hand_dom,smart_EF_hand_dom,prints_Recoverin,pfscan_EF_hand_dom - no_errors CAPSL HGNC ENSG00000152611 51 0 0 68 15 18.0723 ITGA1 0 genome.wustl.edu 37 5 52227934 52227934 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 52227934 52227934 G A SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known silent c.2829 p.P943 0.829 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 63 0 0 66 10 13.1579 PAPD7 0 genome.wustl.edu 37 5 6754978 6754978 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 6754978 6754978 C T SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1549 p.H517Y 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 62 0 0 81 12 12.9032 HMGCR 0 genome.wustl.edu 37 5 74647031 74647031 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 74647031 74647031 A G SNP HMGCR ENST00000287936 human ensembl 74_37 +1 known silent c.1080 p.T360 0.109 tigrfam_HMG_CoA_Rdtase_metazoan pfam_HMG_CoA_Rdtase,pfam_Patched,superfamily_HMG_CoA_Rdtase_sub-bd,superfamily_HMG_CoA_Rdtase_NAD(P)-bd,pfscan_SSD,pfscan_HMG_CoA_Rdtase,prints_HMG_CoA_Rdtase,tigrfam_HMG_CoA_Rdtase_metazoan,tigrfam_HMG_CoA_Rdtase_eu_arc - no_errors HMGCR HGNC ENSG00000113161 119 0 0 133 23 14.7436 CMYA5 0 genome.wustl.edu 37 5 79033262 79033262 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 79033262 79033262 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.8674 p.Y2892H 0.003 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 98 0 0 81 27 25 ZDHHC11 0 genome.wustl.edu 37 5 819657 819657 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 819657 819657 C T SNP ZDHHC11 ENST00000283441 human ensembl 74_37 -1 known missense c.1129 p.G377R 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ENSG00000188818 127 0 0 161 34 17.4359 VCAN 0 genome.wustl.edu 37 5 82818051 82818051 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 82818051 82818051 C T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.3926 p.T1309M 0.982 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 144 0 0 174 36 17.1429 ENSG00000250320 0 genome.wustl.edu 37 5 83680326 83680326 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 83680326 83680326 C T SNP ENSG00000250320 ENST00000509406 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors CTD-2269F5.1 Clone_based_vega_gene ENSG00000250320 15 0 0 21 8 27.5862 NR2F1 0 genome.wustl.edu 37 5 92923980 92923980 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 92923980 92923980 C T SNP NR2F1 ENST00000327111 human ensembl 74_37 +1 known missense c.821 p.A274V 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F1 HGNC ENSG00000175745 86 0 0 86 26 23.2143 FAM172A 0 genome.wustl.edu 37 5 93217343 93217343 + Nonsense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 93217343 93217343 C A SNP FAM172A ENST00000395965 human ensembl 74_37 -1 known nonsense c.619 p.E207* 1.000 pfam_Arb2_domain pfam_Arb2_domain - no_errors FAM172A HGNC ENSG00000113391 93 0 0 97 12 11.0092 RGMB 0 genome.wustl.edu 37 5 98115503 98115503 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 98115503 98115503 G T SNP RGMB ENST00000308234 human ensembl 74_37 +1 known missense c.479 p.R160M 1.000 pfam_RGM_N pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 57 0 0 68 17 20 PRDM13 0 genome.wustl.edu 37 6 100061351 100061351 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 100061351 100061351 G A SNP PRDM13 ENST00000369215 human ensembl 74_37 +1 known silent c.840 p.A280 0.000 NULL smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM13 HGNC ENSG00000112238 9 0 0 5 2 28.5714 MCHR2 0 genome.wustl.edu 37 6 100390836 100390836 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 100390836 100390836 G A SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known silent c.576 p.D192 0.162 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 162 0 0 173 37 17.619 BEND3 0 genome.wustl.edu 37 6 107390065 107390065 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 107390065 107390065 A G SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known missense c.2330 p.L777P 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 91 0 0 110 36 24.6575 FOXO3 0 genome.wustl.edu 37 6 108882671 108882671 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 108882671 108882671 C T SNP FOXO3 ENST00000343882 human ensembl 74_37 +1 known missense c.260 p.T87M 0.003 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO3 HGNC ENSG00000118689 9 0 0 1 2 66.6667 NEDD9 0 genome.wustl.edu 37 6 11190803 11190803 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 11190803 11190803 G A SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known silent c.1299 p.T433 0.001 pfam_Serine_rich pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 82 0 0 107 24 18.3206 GPRC6A 0 genome.wustl.edu 37 6 117113654 117113654 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 117113654 117113654 G A SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known missense c.2432 p.P811L 0.998 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 93 0 0 126 16 11.2676 ENSG00000227678 0 genome.wustl.edu 37 6 130454848 130454848 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 130454848 130454848 G A SNP ENSG00000227678 ENST00000415964 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-73O6.3 Clone_based_vega_gene ENSG00000227678 24 0 0 20 16 44.4444 MOXD1 0 genome.wustl.edu 37 6 132618385 132618385 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 132618385 132618385 C T SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known silent c.1749 p.T583 0.000 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 155 1 0.641026 201 41 16.9421 GFOD1 0 genome.wustl.edu 37 6 13365237 13365237 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 13365237 13365237 C T SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.911 p.R304H 0.919 NULL pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 107 0 0 128 30 18.9873 HECA 0 genome.wustl.edu 37 6 139488244 139488244 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 139488244 139488244 C T SNP HECA ENST00000367658 human ensembl 74_37 +1 known silent c.1095 p.H365 0.992 superfamily_Glycoside_hydrolase_SF superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 88 0 0 99 20 16.8067 UTRN 0 genome.wustl.edu 37 6 144898290 144898290 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 144898290 144898290 C T SNP UTRN ENST00000367545 human ensembl 74_37 +1 known missense c.7345 p.R2449C 0.551 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 84 0 0 93 19 16.9643 PLEKHG1 0 genome.wustl.edu 37 6 151152273 151152273 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 151152273 151152273 C T SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.2026 p.R676W 0.999 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 84 0 0 86 26 23.2143 CLDN20 0 genome.wustl.edu 37 6 155597113 155597113 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 155597113 155597113 C T SNP CLDN20 ENST00000367165 human ensembl 74_37 +1 known missense c.260 p.A87V 0.997 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN20 HGNC ENSG00000171217 127 0 0 164 9 5.20231 MRPL18 0 genome.wustl.edu 37 6 160219129 160219129 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 160219129 160219129 C T SNP MRPL18 ENST00000367034 human ensembl 74_37 +1 known missense c.517 p.R173W 0.040 NULL pfam_Ribosomal_L18/L5 - no_errors MRPL18 HGNC ENSG00000112110 91 0 0 100 14 12.2807 IGF2R 0 genome.wustl.edu 37 6 160501175 160501175 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 160501175 160501175 G A SNP IGF2R ENST00000356956 human ensembl 74_37 +1 known missense c.5701 p.V1901I 0.015 superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 242 0 0 246 54 18 PARK2 0 genome.wustl.edu 37 6 161771140 161771140 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 161771140 161771140 G A SNP PARK2 ENST00000366898 human ensembl 74_37 -1 known silent c.1389 p.F463 1.000 pirsf_Parkin,prints_Parkin pfam_Ubiquitin_dom,pfam_Znf_C6HC,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin - no_errors PARK2 HGNC ENSG00000185345 28 0 0 39 8 17.0213 ATXN1 0 genome.wustl.edu 37 6 16306662 16306662 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 16306662 16306662 C A SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known silent c.2346 p.L782 1.000 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 123 0 0 163 26 13.7566 C6orf118 0 genome.wustl.edu 37 6 165706906 165706906 + Silent SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 165706906 165706906 T A SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known silent c.1116 p.R372 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 226 0 0 263 70 21.021 C6orf118 0 genome.wustl.edu 37 6 165715084 165715084 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 165715084 165715084 C T SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.727 p.A243T 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 101 0 0 118 28 19.1781 UNC93A 0 genome.wustl.edu 37 6 167709603 167709603 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 167709603 167709603 C T SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known missense c.353 p.T118M 0.006 pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 124 1 0.8 154 34 18.0851 TCP10 0 genome.wustl.edu 37 6 167789540 167789540 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 167789540 167789540 G A SNP TCP10 ENST00000397829 human ensembl 74_37 -1 known missense c.602 p.P201L 0.002 NULL NULL - no_errors TCP10 HGNC ENSG00000203690 62 0 0 54 7 11.4754 KIF25 0 genome.wustl.edu 37 6 168443281 168443281 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 168443281 168443281 G A SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known silent c.870 p.A290 0.002 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 145 1 0.684932 168 35 17.2414 KIF25 0 genome.wustl.edu 37 6 168443315 168443315 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 168443315 168443315 G A SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known missense c.904 p.V302I 0.979 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 128 0 0 157 27 14.6739 DLL1 0 genome.wustl.edu 37 6 170592774 170592774 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 170592774 170592774 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known silent c.1593 p.D531 0.631 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,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 13 0 0 25 3 10.7143 CAP2 0 genome.wustl.edu 37 6 17507411 17507411 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 17507411 17507411 C T SNP CAP2 ENST00000229922 human ensembl 74_37 +1 known silent c.312 p.A104 0.058 pfam_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_N pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif - no_errors CAP2 HGNC ENSG00000112186 101 0 0 120 28 18.9189 BTN3A3 0 genome.wustl.edu 37 6 26448537 26448537 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 26448537 26448537 G A SNP BTN3A3 ENST00000244519 human ensembl 74_37 +1 known silent c.777 p.S259 0.000 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTN3A3 HGNC ENSG00000111801 114 0 0 121 28 18.7919 HIST1H2AG 0 genome.wustl.edu 37 6 27101205 27101205 + Missense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 27101205 27101205 A C SNP HIST1H2AG ENST00000359193 human ensembl 74_37 +1 known missense c.355 p.K119Q 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AG HGNC ENSG00000196787 127 1 0.78125 138 22 13.75 ZNF165 0 genome.wustl.edu 37 6 28056479 28056479 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 28056479 28056479 C T SNP ZNF165 ENST00000377325 human ensembl 74_37 +1 known missense c.689 p.A230V 0.013 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF165 HGNC ENSG00000197279 221 0 0 213 42 16.4706 HLA-F 0 genome.wustl.edu 37 6 29694737 29694737 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 29694737 29694737 T C SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.1114 p.Y372H 1.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 270 0 0 256 90 26.0116 HLA-J 0 genome.wustl.edu 37 6 29975983 29975983 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 29975983 29975983 C T SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HLA-J HGNC ENSG00000204622 58 0 0 63 14 18.1818 TRIM39 0 genome.wustl.edu 37 6 30303703 30303703 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 30303703 30303703 C T SNP TRIM39 ENST00000376656 human ensembl 74_37 +1 known missense c.731 p.A244V 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC ENSG00000204599 73 0 0 101 24 19.2 ABCF1 0 genome.wustl.edu 37 6 30554267 30554267 + Nonsense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 30554267 30554267 C A SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known nonsense c.1902 p.Y634* 0.987 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 268 0 0 312 56 15.2174 PPP1R10 0 genome.wustl.edu 37 6 30569867 30569867 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 30569867 30569867 G A SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known silent c.2559 p.H853 0.930 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 142 0 0 162 36 18.1818 PPP1R10 0 genome.wustl.edu 37 6 30574379 30574379 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 30574379 30574379 C T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.500 p.R167Q 0.846 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 130 0 0 163 40 19.7044 AIF1 0 genome.wustl.edu 37 6 31584597 31584597 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 31584597 31584597 C A SNP AIF1 ENST00000376059 human ensembl 74_37 +1 known missense c.364 p.L122M 1.000 NULL pfscan_EF_hand_dom - no_errors AIF1 HGNC ENSG00000204472 54 0 0 57 16 21.9178 DDAH2 0 genome.wustl.edu 37 6 31696699 31696699 + Silent SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 31696699 31696699 C A SNP DDAH2 ENST00000375787 human ensembl 74_37 -1 known silent c.240 p.V80 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH2 HGNC ENSG00000213722 100 0 0 125 26 17.2185 SKIV2L 0 genome.wustl.edu 37 6 31931880 31931880 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 31931880 31931880 G A SNP SKIV2L ENST00000375394 human ensembl 74_37 +1 known missense c.1838 p.G613D 1.000 superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 53 0 0 73 17 18.8889 CYP21A2 0 genome.wustl.edu 37 6 32008351 32008351 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 32008351 32008351 C T SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known missense c.1108 p.R370W 0.101 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 22 0 0 36 15 29.4118 PRRT1 0 genome.wustl.edu 37 6 32117088 32117088 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 32117088 32117088 C T SNP PRRT1 ENST00000211413 human ensembl 74_37 -1 known missense c.832 p.V278M 0.999 pfam_CD225/Dispanin_fam pfam_CD225/Dispanin_fam - no_errors PRRT1 HGNC ENSG00000204314 28 0 0 26 7 21.2121 SLC22A23 0 genome.wustl.edu 37 6 3273381 3273381 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 3273381 3273381 C T SNP SLC22A23 ENST00000406686 human ensembl 74_37 -1 known missense c.1969 p.E657K 0.997 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 151 0 0 163 24 12.8342 ITPR3 0 genome.wustl.edu 37 6 33658886 33658886 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 33658886 33658886 G T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.7225 p.A2409S 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 85 0 0 102 27 20.9302 PPARD 0 genome.wustl.edu 37 6 35392119 35392119 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 35392119 35392119 A T SNP PPARD ENST00000311565 human ensembl 74_37 +1 known missense c.641 p.H214L 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A - no_errors PPARD HGNC ENSG00000112033 53 0 0 79 11 12.2222 BRPF3 0 genome.wustl.edu 37 6 36193095 36193095 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 36193095 36193095 A T SNP BRPF3 ENST00000357641 human ensembl 74_37 +1 known missense c.3233 p.E1078V 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF3 HGNC ENSG00000096070 81 0 0 109 22 16.7939 MDGA1 0 genome.wustl.edu 37 6 37619886 37619886 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 37619886 37619886 G T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.1213 p.L405M 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 76 0 0 110 23 17.2932 FOXP4 0 genome.wustl.edu 37 6 41562617 41562617 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 41562617 41562617 C T SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known missense c.1546 p.R516C 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 FOXP4 HGNC ENSG00000137166 65 0 0 88 21 19.2661 PRICKLE4 0 genome.wustl.edu 37 6 41751963 41751963 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 41751963 41751963 C T SNP PRICKLE4 ENST00000335515 human ensembl 74_37 +1 known missense c.227 p.P76L 0.992 pfam_PET_domain pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 78 0 0 84 19 18.4466 CUL9 0 genome.wustl.edu 37 6 43163940 43163940 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 43163940 43163940 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known missense c.2522 p.P841L 0.380 superfamily_ARM-type_fold pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 123 0 0 141 24 14.5455 TTBK1 0 genome.wustl.edu 37 6 43230733 43230733 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 43230733 43230733 T C SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.1631 p.V544A 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 22 0 0 34 6 15 SLC22A7 0 genome.wustl.edu 37 6 43270090 43270090 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 43270090 43270090 C T SNP SLC22A7 ENST00000372585 human ensembl 74_37 +1 known missense c.1214 p.T405M 0.142 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A7 HGNC ENSG00000137204 30 0 0 49 17 25.7576 TFAP2B 0 genome.wustl.edu 37 6 50810964 50810964 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 50810964 50810964 C T SNP TFAP2B ENST00000263046 human ensembl 74_37 +1 known silent c.1269 p.L423 1.000 pfam_TF_AP2_C pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 139 1 0.714286 172 41 19.2488 MLIP 0 genome.wustl.edu 37 6 53883888 53883888 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 53883888 53883888 C T SNP MLIP ENST00000274897 human ensembl 74_37 +1 known missense c.62 p.T21M 0.990 NULL NULL - no_errors MLIP HGNC ENSG00000146147 52 0 0 53 9 14.5161 DST 0 genome.wustl.edu 37 6 56485219 56485219 + Nonsense_Mutation SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 56485219 56485219 T A SNP DST ENST00000370765 human ensembl 74_37 -1 known nonsense c.3613 p.R1205* 0.000 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 119 1 0.833333 130 36 21.6867 DST 0 genome.wustl.edu 37 6 56505005 56505005 + Nonsense_Mutation SNP A A C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 56505005 56505005 A C SNP DST ENST00000370754 human ensembl 74_37 -1 known nonsense c.2327 p.L776* 1.000 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 74 0 0 90 19 17.4312 DST 0 genome.wustl.edu 37 6 56507562 56507562 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 56507562 56507562 G A SNP DST ENST00000446842 human ensembl 74_37 -1 known missense c.25 p.R9C 0.964 NULL pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_GAS2_dom,superfamily_GAS2_dom,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 115 0 0 128 23 15.2318 EYS 0 genome.wustl.edu 37 6 66054021 66054021 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 66054021 66054021 C T SNP EYS ENST00000370616 human ensembl 74_37 -1 known silent c.1509 p.L503 0.000 NULL 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 74 0 0 97 25 20.4918 RREB1 0 genome.wustl.edu 37 6 7231875 7231875 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 7231875 7231875 C T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.3543 p.I1181 0.313 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 28 0 0 42 7 14.2857 CD109 0 genome.wustl.edu 37 6 74497026 74497026 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 74497026 74497026 G T SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.2407 p.G803C 0.005 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 99 0 0 147 38 20.5405 DSP 0 genome.wustl.edu 37 6 7583008 7583008 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 7583008 7583008 G A SNP DSP ENST00000379802 human ensembl 74_37 +1 known missense c.5513 p.R1838H 0.841 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 186 1 0.534759 203 45 18.1452 TTK 0 genome.wustl.edu 37 6 80751905 80751905 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 80751905 80751905 A G SNP TTK ENST00000369798 human ensembl 74_37 +1 known missense c.2560 p.R854G 0.014 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 55 0 0 50 14 21.875 FAXC 0 genome.wustl.edu 37 6 99729068 99729068 + Missense_Mutation SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 99729068 99729068 T G SNP FAXC ENST00000389677 human ensembl 74_37 -1 known missense c.1202 p.D401A 1.000 NULL superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors FAXC HGNC ENSG00000146267 116 1 0.854701 125 34 21.3836 ZAN 0 genome.wustl.edu 37 7 100361492 100361492 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 100361492 100361492 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.4050 p.S1350 0.019 smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 232 0 0 307 55 15.1934 CUX1 0 genome.wustl.edu 37 7 101921277 101921277 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 101921277 101921277 C T SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1621 p.R541C 0.994 pfam_CASP_C pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 25 0 0 37 8 17.7778 CUX1 0 genome.wustl.edu 37 7 101925162 101925162 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 101925162 101925162 C T SNP CUX1 ENST00000292538 human ensembl 74_37 +1 known missense c.1852 p.R618C 0.963 pfam_CASP_C pfam_CASP_C,superfamily_LemA-like_dom - no_errors CUX1 HGNC ENSG00000257923 72 0 0 117 15 11.3636 ALKBH4 0 genome.wustl.edu 37 7 102098010 102098010 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 102098010 102098010 G A SNP ALKBH4 ENST00000292566 human ensembl 74_37 -1 known missense c.740 p.A247V 0.042 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH4 HGNC ENSG00000160993 27 0 0 55 8 12.6984 RELN 0 genome.wustl.edu 37 7 103155812 103155812 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 103155812 103155812 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7939 p.G2647S 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 41 0 0 69 11 13.75 RELN 0 genome.wustl.edu 37 7 103163922 103163922 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 103163922 103163922 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.7406 p.T2469I 1.000 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 195 0 0 256 57 18.2109 RINT1 0 genome.wustl.edu 37 7 105182968 105182968 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 105182968 105182968 C T SNP RINT1 ENST00000497979 human ensembl 74_37 +1 known missense c.166 p.R56C 0.008 NULL NULL - no_errors RINT1 HGNC ENSG00000135249 105 0 0 158 11 6.50888 ATXN7L1 0 genome.wustl.edu 37 7 105516960 105516960 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 105516960 105516960 A G SNP ATXN7L1 ENST00000419735 human ensembl 74_37 -1 known silent c.45 p.A15 0.998 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 35 0 0 49 10 16.9492 DLD 0 genome.wustl.edu 37 7 107559493 107559493 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 107559493 107559493 G A SNP DLD ENST00000205402 human ensembl 74_37 +1 known silent c.1413 p.L471 1.000 pfam_Pyr_nucl-diS_OxRdtase_dimer,superfamily_FAD/NAD-linked_Rdtase_dimer,tigrfam_Lipoamide_DH pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 144 0 0 215 14 6.11354 NRCAM 0 genome.wustl.edu 37 7 107818475 107818475 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 107818475 107818475 C T SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known silent c.2934 p.P978 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 93 0 0 92 18 16.3636 GPER1 0 genome.wustl.edu 37 7 1131745 1131745 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 1131745 1131745 C T SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known silent c.381 p.A127 0.003 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 141 0 0 203 71 25.9124 PPP1R3A 0 genome.wustl.edu 37 7 113519666 113519666 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 113519666 113519666 G A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1481 p.S494L 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 96 0 0 95 19 16.6667 HYAL4 0 genome.wustl.edu 37 7 123516944 123516944 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 123516944 123516944 C T SNP HYAL4 ENST00000223026 human ensembl 74_37 +1 known missense c.1181 p.A394V 0.069 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL4 HGNC ENSG00000106302 135 0 0 163 30 15.544 GCC1 0 genome.wustl.edu 37 7 127222456 127222456 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 127222456 127222456 G A SNP GCC1 ENST00000321407 human ensembl 74_37 -1 known missense c.1940 p.A647V 0.015 superfamily_ARM-type_fold pfam_GRIP,superfamily_ARM-type_fold,smart_GRIP,pfscan_GRIP - no_errors GCC1 HGNC ENSG00000179562 134 1 0.740741 211 40 15.9363 SND1 0 genome.wustl.edu 37 7 127729627 127729627 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 127729627 127729627 C T SNP SND1 ENST00000354725 human ensembl 74_37 +1 known silent c.2505 p.A835 0.972 superfamily_Staphylococal_nuclease_OB-fold,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 108 0 0 157 14 8.18713 HILPDA 0 genome.wustl.edu 37 7 128097324 128097324 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 128097324 128097324 T C SNP HILPDA ENST00000257696 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL NULL - no_errors HILPDA HGNC ENSG00000135245 83 0 0 130 14 9.72222 TSGA13 0 genome.wustl.edu 37 7 130356601 130356601 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 130356601 130356601 G A SNP TSGA13 ENST00000356588 human ensembl 74_37 -1 known silent c.558 p.S186 0.992 NULL NULL - no_errors TSGA13 HGNC ENSG00000213265 118 0 0 174 36 17.1429 MKLN1 0 genome.wustl.edu 37 7 131172535 131172535 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 131172535 131172535 G A SNP MKLN1 ENST00000498778 human ensembl 74_37 +1 known rna NULL NULL 0.736 - - - no_errors MKLN1 HGNC ENSG00000128585 44 0 0 56 14 20 EXOC4 0 genome.wustl.edu 37 7 132973839 132973839 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 132973839 132973839 G A SNP EXOC4 ENST00000253861 human ensembl 74_37 +1 known missense c.440 p.S147N 1.000 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC ENSG00000131558 47 0 0 72 15 17.2414 CALD1 0 genome.wustl.edu 37 7 134632499 134632499 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 134632499 134632499 C T SNP CALD1 ENST00000361388 human ensembl 74_37 +1 known silent c.1086 p.A362 0.311 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 63 0 0 78 13 14.2857 MIR490 0 genome.wustl.edu 37 7 136587905 136587905 + RNA SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 136587905 136587905 T C SNP MIR490 ENST00000608269 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors hsa-mir-490 miRBase ENSG00000234352 171 0 0 252 45 15.1515 MKRN1 0 genome.wustl.edu 37 7 140156541 140156541 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 140156541 140156541 G A SNP MKRN1 ENST00000495305 human ensembl 74_37 -1 known missense c.440 p.S147L 0.569 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MKRN1 HGNC ENSG00000133606 70 0 0 98 15 13.2743 MGAM 0 genome.wustl.edu 37 7 141727518 141727518 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 141727518 141727518 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.1204 p.A402T 0.503 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 30 0 0 51 14 21.5385 EPHB6 0 genome.wustl.edu 37 7 142564290 142564290 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 142564290 142564290 C T SNP EPHB6 ENST00000392957 human ensembl 74_37 +1 known missense c.1514 p.T505M 0.967 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB6 HGNC ENSG00000106123 95 0 0 124 14 10.1449 NOBOX 0 genome.wustl.edu 37 7 144098303 144098303 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 144098303 144098303 C T SNP NOBOX ENST00000467773 human ensembl 74_37 -1 known missense c.680 p.R227H 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 35 0 0 53 7 11.6667 ZNF425 0 genome.wustl.edu 37 7 148801229 148801229 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 148801229 148801229 G A SNP ZNF425 ENST00000378061 human ensembl 74_37 -1 known silent c.1734 p.D578 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ENSG00000204947 102 0 0 138 40 22.4719 ZNF862 0 genome.wustl.edu 37 7 149545202 149545202 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 149545202 149545202 C T SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.620 p.A207V 0.981 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 61 0 0 126 10 7.35294 ABCB8 0 genome.wustl.edu 37 7 150730745 150730745 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 150730745 150730745 G A SNP ABCB8 ENST00000297504 human ensembl 74_37 +1 known missense c.200 p.R67Q 0.421 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 101 0 0 128 18 12.3288 CRYGN 0 genome.wustl.edu 37 7 151135151 151135151 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 151135151 151135151 G A SNP CRYGN ENST00000337323 human ensembl 74_37 -1 known silent c.201 p.G67 0.376 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGN HGNC ENSG00000127377 75 0 0 98 27 21.6 PTPRN2 0 genome.wustl.edu 37 7 157931052 157931052 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 157931052 157931052 C A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.1135 p.A379S 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 66 0 0 104 25 19.3798 WDR60 0 genome.wustl.edu 37 7 158738447 158738447 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 158738447 158738447 C T SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known missense c.3178 p.P1060S 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 21 0 0 33 5 13.1579 SOSTDC1 0 genome.wustl.edu 37 7 16502286 16502286 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 16502286 16502286 G A SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known missense c.508 p.R170W 0.998 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfscan_Cys_knot_C pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 207 0 0 275 68 19.8251 SOSTDC1 0 genome.wustl.edu 37 7 16502300 16502300 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 16502300 16502300 C T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known missense c.494 p.C165Y 1.000 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 228 0 0 316 71 18.3463 DNAH11 0 genome.wustl.edu 37 7 21760398 21760398 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 21760398 21760398 G A SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.7211 p.S2404N 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 32 0 0 45 4 8.16327 SNX8 0 genome.wustl.edu 37 7 2317940 2317940 + Missense_Mutation SNP T T A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 2317940 2317940 T A SNP SNX8 ENST00000222990 human ensembl 74_37 -1 known missense c.95 p.D32V 0.826 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 38 0 0 66 4 5.71429 FAM221A 0 genome.wustl.edu 37 7 23741751 23741751 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 23741751 23741751 G A SNP FAM221A ENST00000344962 human ensembl 74_37 +1 known missense c.865 p.A289T 0.982 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 41 0 0 48 8 14.2857 CHST12 0 genome.wustl.edu 37 7 2472943 2472943 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 2472943 2472943 C T SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known silent c.669 p.Y223 0.950 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 95 0 0 118 35 22.8758 BRAT1 0 genome.wustl.edu 37 7 2580614 2580614 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 2580614 2580614 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.1394 p.T465M 0.998 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 18 0 0 28 10 26.3158 HOXA2 0 genome.wustl.edu 37 7 27140938 27140938 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 27140938 27140938 G T SNP HOXA2 ENST00000222718 human ensembl 74_37 -1 known missense c.538 p.L180M 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 105 0 0 175 38 17.8404 HOXA3 0 genome.wustl.edu 37 7 27147924 27147924 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 27147924 27147924 C T SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known silent c.942 p.A314 0.869 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 20 0 0 27 8 22.8571 HOXA3 0 genome.wustl.edu 37 7 27150221 27150221 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 27150221 27150221 G A SNP HOXA3 ENST00000317201 human ensembl 74_37 -1 known silent c.39 p.Y13 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA3 HGNC ENSG00000105997 87 0 0 116 24 17.1429 HOXA9 0 genome.wustl.edu 37 7 27204724 27204724 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 27204724 27204724 G A SNP HOXA9 ENST00000343483 human ensembl 74_37 -1 known missense c.353 p.A118V 1.000 pfam_Hox9_activation_N,pirsf_Homeobox_Hox9 pfam_Hox9_activation_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Hox9,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA9 HGNC ENSG00000078399 26 0 0 39 9 18.75 NME8 0 genome.wustl.edu 37 7 37901657 37901657 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 37901657 37901657 G T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.298 p.G100C 0.994 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 91 0 0 116 21 15.3285 GLI3 0 genome.wustl.edu 37 7 42005905 42005905 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 42005905 42005905 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.2766 p.T922 0.855 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 34 0 0 68 6 8.10811 POLM 0 genome.wustl.edu 37 7 44112960 44112960 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 44112960 44112960 G A SNP POLM ENST00000242248 human ensembl 74_37 -1 known missense c.1415 p.A472V 0.000 smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_TdT/Mu,pfscan_BRCT_dom,prints_TdT/Mu,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors POLM HGNC ENSG00000122678 51 0 0 80 8 9.09091 OGDH 0 genome.wustl.edu 37 7 44734127 44734127 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 44734127 44734127 C T SNP OGDH ENST00000222673 human ensembl 74_37 +1 known silent c.1620 p.Y540 0.960 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 57 0 0 107 16 13.0081 TNS3 0 genome.wustl.edu 37 7 47343041 47343041 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 47343041 47343041 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known silent c.2964 p.F988 0.845 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 51 0 0 96 7 6.79612 PKD1L1 0 genome.wustl.edu 37 7 47879214 47879214 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 47879214 47879214 C T SNP PKD1L1 ENST00000289672 human ensembl 74_37 -1 known missense c.5599 p.D1867N 0.959 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 14 0 0 22 4 15.3846 RADIL 0 genome.wustl.edu 37 7 4841602 4841602 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 4841602 4841602 C T SNP RADIL ENST00000399583 human ensembl 74_37 -1 known missense c.2524 p.G842R 0.025 NULL pfam_Dil_domain,pfam_Ras-assoc,pfam_PDZ,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 16 0 0 28 4 12.5 PAPOLB 0 genome.wustl.edu 37 7 4901260 4901260 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 4901260 4901260 C T SNP PAPOLB ENST00000404991 human ensembl 74_37 -1 known missense c.179 p.R60H 0.971 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 35 0 0 51 13 20.3125 MMD2 0 genome.wustl.edu 37 7 4949602 4949602 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 4949602 4949602 G A SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known silent c.519 p.G173 0.000 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 92 0 0 153 24 13.5593 SLC29A4 0 genome.wustl.edu 37 7 5327554 5327554 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 5327554 5327554 C A SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known missense c.107 p.A36E 0.001 NULL pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 59 0 0 77 15 16.3043 FBXL18 0 genome.wustl.edu 37 7 5540290 5540290 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 5540290 5540290 G A SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.1610 p.T537M 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 34 0 0 47 10 17.5439 ZNF713 0 genome.wustl.edu 37 7 56007338 56007338 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 56007338 56007338 G A SNP ZNF713 ENST00000429591 human ensembl 74_37 +1 known missense c.932 p.R311H 0.165 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 ZNF713 HGNC ENSG00000178665 192 1 0.518135 255 37 12.6712 FSCN1 0 genome.wustl.edu 37 7 5643549 5643549 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 5643549 5643549 C T SNP FSCN1 ENST00000382361 human ensembl 74_37 +1 known silent c.1167 p.R389 0.157 superfamily_Actin_cross-linking pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FSCN1 HGNC ENSG00000075618 80 0 0 115 20 14.8148 AUTS2 0 genome.wustl.edu 37 7 70254984 70254984 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 70254984 70254984 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.2782 p.A928T 0.002 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 25 0 0 32 4 11.1111 WBSCR17 0 genome.wustl.edu 37 7 70885914 70885914 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 70885914 70885914 G A SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.785 p.R262H 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 412 1 0.242131 529 83 13.5621 NCF1B 0 genome.wustl.edu 37 7 72645891 72645891 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 72645891 72645891 C T SNP NCF1B ENST00000423083 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors NCF1B HGNC ENSG00000182487 19 0 0 38 9 19.1489 TRIM50 0 genome.wustl.edu 37 7 72738631 72738631 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 72738631 72738631 C T SNP TRIM50 ENST00000333149 human ensembl 74_37 -1 known missense c.155 p.R52H 0.985 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM50 HGNC ENSG00000146755 76 0 0 104 19 15.4472 TBL2 0 genome.wustl.edu 37 7 72985188 72985188 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 72985188 72985188 A G SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known silent c.993 p.G331 0.003 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 117 0 0 171 37 17.7885 WBSCR22 0 genome.wustl.edu 37 7 73106929 73106929 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 73106929 73106929 C T SNP WBSCR22 ENST00000265758 human ensembl 74_37 +1 known missense c.463 p.R155W 0.982 NULL pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 96 0 0 150 26 14.7727 POM121C 0 genome.wustl.edu 37 7 75052146 75052146 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 75052146 75052146 G A SNP POM121C ENST00000257665 human ensembl 74_37 -1 known silent c.2115 p.F705 1.000 NULL NULL - no_errors POM121C HGNC ENSG00000135213 14 0 0 23 12 34.2857 PCLO 0 genome.wustl.edu 37 7 82387901 82387901 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 82387901 82387901 T C SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.15419 p.Q5140R 1.000 superfamily_C2_dom pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 283 0 0 403 33 7.56881 PCLO 0 genome.wustl.edu 37 7 82595405 82595405 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 82595405 82595405 C T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.3699 p.K1233 0.009 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 424 0 0 581 87 13.024 DMTF1 0 genome.wustl.edu 37 7 86811625 86811625 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 86811625 86811625 C T SNP DMTF1 ENST00000331242 human ensembl 74_37 +1 known silent c.792 p.C264 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors DMTF1 HGNC ENSG00000135164 87 0 0 121 15 11.0294 ADAM22 0 genome.wustl.edu 37 7 87765316 87765316 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 87765316 87765316 C T SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.1190 p.T397M 0.965 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 166 0 0 183 19 9.40594 STEAP1 0 genome.wustl.edu 37 7 89793832 89793832 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 89793832 89793832 C T SNP STEAP1 ENST00000297205 human ensembl 74_37 +1 known silent c.804 p.H268 0.985 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1 HGNC ENSG00000164647 264 0 0 362 45 11.0565 STEAP2 0 genome.wustl.edu 37 7 89866228 89866228 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 89866228 89866228 C T SNP STEAP2 ENST00000394626 human ensembl 74_37 +1 known missense c.1357 p.P453S 0.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 71 0 0 103 17 14.1667 C7orf63 0 genome.wustl.edu 37 7 89939548 89939548 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 89939548 89939548 C T SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.2822 p.T941M 0.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 54 0 0 82 21 20.3883 SAMD9 0 genome.wustl.edu 37 7 92732292 92732292 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 92732292 92732292 C T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.3119 p.R1040H 0.026 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 122 0 0 155 27 14.8352 COL1A2 0 genome.wustl.edu 37 7 94052330 94052330 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 94052330 94052330 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2465 p.R822H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 229 1 0.434783 348 69 16.5468 COL1A2 0 genome.wustl.edu 37 7 94057007 94057007 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 94057007 94057007 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.3336 p.Y1112 0.870 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 136 0 0 239 27 10.1504 PPP1R9A 0 genome.wustl.edu 37 7 94917878 94917878 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 94917878 94917878 A G SNP PPP1R9A ENST00000289495 human ensembl 74_37 +1 known missense c.3526 p.S1176G 1.000 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC ENSG00000158528 106 0 0 155 34 17.9894 LMTK2 0 genome.wustl.edu 37 7 97821441 97821441 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 97821441 97821441 T C SNP LMTK2 ENST00000297293 human ensembl 74_37 +1 known missense c.1664 p.L555S 0.188 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 119 0 0 168 37 18.0488 ARPC1A 0 genome.wustl.edu 37 7 98935830 98935830 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 98935830 98935830 G A SNP ARPC1A ENST00000262942 human ensembl 74_37 +1 known missense c.91 p.E31K 1.000 superfamily_WD40_repeat_dom,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 39 0 0 50 5 9.09091 AP4M1 0 genome.wustl.edu 37 7 99702683 99702683 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 99702683 99702683 T C SNP AP4M1 ENST00000359593 human ensembl 74_37 +1 known missense c.689 p.L230S 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP4M1 HGNC ENSG00000221838 111 0 0 142 32 18.3908 UBR5 0 genome.wustl.edu 37 8 103297394 103297394 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 103297394 103297394 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.5657 p.A1886V 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 102 1 0.970874 190 33 14.7982 DCAF13 0 genome.wustl.edu 37 8 104432678 104432678 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 104432678 104432678 C T SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known missense c.713 p.A238V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 23 0 0 34 4 10.5263 RP1L1 0 genome.wustl.edu 37 8 10470311 10470311 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 10470311 10470311 G A SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.1297 p.R433C 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 79 0 0 131 31 19.1358 C8orf74 0 genome.wustl.edu 37 8 10555303 10555303 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 10555303 10555303 A G SNP C8orf74 ENST00000304519 human ensembl 74_37 +1 known missense c.436 p.M146V 0.000 NULL NULL - no_errors C8orf74 HGNC ENSG00000171060 208 0 0 307 54 14.9584 XKR6 0 genome.wustl.edu 37 8 10756078 10756078 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 10756078 10756078 C T SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.1310 p.R437Q 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 28 0 0 53 12 18.4615 TBC1D31 0 genome.wustl.edu 37 8 124140619 124140619 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 124140619 124140619 C T SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known silent c.1983 p.S661 0.118 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 174 0 0 225 47 17.2794 RNF139 0 genome.wustl.edu 37 8 125498442 125498442 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 125498442 125498442 G A SNP RNF139 ENST00000303545 human ensembl 74_37 +1 known silent c.552 p.L184 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF139 HGNC ENSG00000170881 189 0 0 227 52 18.638 KIAA0196 0 genome.wustl.edu 37 8 126051080 126051080 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 126051080 126051080 G A SNP KIAA0196 ENST00000318410 human ensembl 74_37 -1 known silent c.3076 p.L1026 0.990 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 247 0 0 325 28 7.93201 MYC 0 genome.wustl.edu 37 8 128753090 128753090 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 128753090 128753090 C T SNP MYC ENST00000377970 human ensembl 74_37 +1 known silent c.1251 p.Y417 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 203 0 0 284 56 16.4706 ADCY8 0 genome.wustl.edu 37 8 131792892 131792892 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 131792892 131792892 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3500 p.T1167M 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 145 0 0 201 31 13.3621 KCNK9 0 genome.wustl.edu 37 8 140630719 140630719 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 140630719 140630719 G A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.907 p.R303C 0.810 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 124 0 0 171 32 15.7635 AGO2 0 genome.wustl.edu 37 8 141542570 141542570 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 141542570 141542570 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known missense c.2416 p.A806T 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 58 0 0 64 8 11.1111 TSNARE1 0 genome.wustl.edu 37 8 143427220 143427220 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 143427220 143427220 C T SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known missense c.122 p.R41H 0.648 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 112 1 0.884956 134 15 10.0671 CYP11B1 0 genome.wustl.edu 37 8 143961145 143961145 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 143961145 143961145 C T SNP CYP11B1 ENST00000292427 human ensembl 74_37 -1 known missense c.85 p.A29T 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC ENSG00000160882 142 0 0 200 28 12.2807 MROH6 0 genome.wustl.edu 37 8 144652140 144652140 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 144652140 144652140 G T SNP MROH6 ENST00000398882 human ensembl 74_37 -1 known missense c.1139 p.A380D 0.349 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH6 HGNC ENSG00000204839 55 0 0 84 8 8.69565 EPPK1 0 genome.wustl.edu 37 8 144946637 144946637 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 144946637 144946637 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.785 p.R262Q 0.848 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 14 0 0 23 10 30.303 PLEC 0 genome.wustl.edu 37 8 144996013 144996013 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 144996013 144996013 T C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8387 p.Q2796R 0.848 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 34 0 0 53 13 19.697 OPLAH 0 genome.wustl.edu 37 8 145113480 145113480 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 145113480 145113480 C T SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known silent c.702 p.T234 0.288 pfam_Hydantoinase_A pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 55 0 0 74 21 22.1053 ARHGAP39 0 genome.wustl.edu 37 8 145771183 145771183 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 145771183 145771183 G A SNP ARHGAP39 ENST00000377307 human ensembl 74_37 -1 known silent c.1971 p.L657 0.021 NULL pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP39 HGNC ENSG00000147799 19 0 0 32 5 13.5135 NAT2 0 genome.wustl.edu 37 8 18257858 18257858 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 18257858 18257858 C T SNP NAT2 ENST00000286479 human ensembl 74_37 +1 known silent c.345 p.D115 0.697 pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase - no_errors NAT2 HGNC ENSG00000156006 166 0 0 215 49 18.5606 MYOM2 0 genome.wustl.edu 37 8 2040280 2040280 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 2040280 2040280 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.1935 p.Y645 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 153 0 0 238 56 19.0476 DOK2 0 genome.wustl.edu 37 8 21769786 21769786 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 21769786 21769786 G A SNP DOK2 ENST00000276420 human ensembl 74_37 -1 known missense c.299 p.A100V 0.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK2 HGNC ENSG00000147443 16 0 0 17 3 15 HR 0 genome.wustl.edu 37 8 21983112 21983112 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 21983112 21983112 G A SNP HR ENST00000381418 human ensembl 74_37 -1 known silent c.1539 p.H513 0.109 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 28 0 0 43 11 20.3704 ENSG00000254230 0 genome.wustl.edu 37 8 22424547 22424547 + Splice_Site SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 22424547 22424547 C A SNP ENSG00000254230 ENST00000517384 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.001 - - - no_errors RP11-582J16.3 Clone_based_vega_gene ENSG00000254230 62 0 0 109 24 18.0451 ADAM7 0 genome.wustl.edu 37 8 24333950 24333950 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 24333950 24333950 G A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.638 p.R213H 0.714 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 78 0 0 123 16 11.5108 NEFM 0 genome.wustl.edu 37 8 24771772 24771772 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 24771772 24771772 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.466 p.E156K 1.000 pfam_IF pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 25 0 0 40 6 13.0435 CDCA2 0 genome.wustl.edu 37 8 25365223 25365223 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 25365223 25365223 G T SNP CDCA2 ENST00000330560 human ensembl 74_37 +1 known missense c.3041 p.R1014M 0.001 NULL NULL - no_errors CDCA2 HGNC ENSG00000184661 132 1 0.75188 212 41 16.2055 KIF13B 0 genome.wustl.edu 37 8 28989881 28989881 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 28989881 28989881 G T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.2886 p.N962K 0.999 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 89 0 0 150 28 15.7303 TEX15 0 genome.wustl.edu 37 8 30700994 30700994 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 30700994 30700994 G A SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.5540 p.S1847L 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 166 0 0 266 43 13.9159 NRG1 0 genome.wustl.edu 37 8 32505672 32505672 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 32505672 32505672 A G SNP NRG1 ENST00000520502 human ensembl 74_37 +1 known missense c.436 p.R146G 0.952 NULL smart_EG-like_dom,pfscan_EG-like_dom - no_errors NRG1 HGNC ENSG00000157168 133 0 0 172 34 16.5049 KCNU1 0 genome.wustl.edu 37 8 36766851 36766851 + Missense_Mutation SNP A A T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 36766851 36766851 A T SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.2129 p.Y710F 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 431 0 0 497 89 15.1877 GOT1L1 0 genome.wustl.edu 37 8 37792610 37792610 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 37792610 37792610 G A SNP GOT1L1 ENST00000307599 human ensembl 74_37 -1 known silent c.1053 p.H351 0.479 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 49 0 0 87 9 9.375 TM2D2 0 genome.wustl.edu 37 8 38852991 38852991 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 38852991 38852991 G A SNP TM2D2 ENST00000397070 human ensembl 74_37 -1 known missense c.32 p.T11M 0.000 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 136 0 0 183 36 16.4384 ADAM2 0 genome.wustl.edu 37 8 39624771 39624771 + Splice_Site SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 39624771 39624771 C A SNP ADAM2 ENST00000265708 human ensembl 74_37 -1 known splice_site c.1213-1 e13-1 0.984 - - - no_errors ADAM2 HGNC ENSG00000104755 223 0 0 298 56 15.8192 IKBKB 0 genome.wustl.edu 37 8 42129709 42129709 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 42129709 42129709 C T SNP IKBKB ENST00000520810 human ensembl 74_37 +1 known nonsense c.91 p.R31* 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ubiquitin_supergroup,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors IKBKB HGNC ENSG00000104365 151 0 0 218 32 12.8 PXDNL 0 genome.wustl.edu 37 8 52321597 52321597 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 52321597 52321597 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2587 p.A863T 0.886 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 34 0 0 70 13 15.6627 SOX17 0 genome.wustl.edu 37 8 55372549 55372549 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 55372549 55372549 C T SNP SOX17 ENST00000297316 human ensembl 74_37 +1 known silent c.1239 p.D413 0.863 NULL pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX17 HGNC ENSG00000164736 54 0 0 92 11 10.6796 RP1 0 genome.wustl.edu 37 8 55542107 55542107 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 55542107 55542107 C T SNP RP1 ENST00000220676 human ensembl 74_37 +1 known nonsense c.5665 p.Q1889* 0.980 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 103 0 0 133 27 16.875 ANGPT2 0 genome.wustl.edu 37 8 6371315 6371315 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 6371315 6371315 C T SNP ANGPT2 ENST00000325203 human ensembl 74_37 -1 known silent c.1083 p.S361 0.782 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 87 0 0 135 16 10.596 BHLHE22 0 genome.wustl.edu 37 8 65494237 65494237 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 65494237 65494237 C T SNP BHLHE22 ENST00000321870 human ensembl 74_37 +1 known missense c.890 p.A297V 1.000 superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE22 HGNC ENSG00000180828 15 0 0 33 6 15.3846 C8orf46 0 genome.wustl.edu 37 8 67405817 67405817 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 67405817 67405817 C T SNP C8orf46 ENST00000521813 human ensembl 74_37 +1 putative rna NULL NULL 0.995 - - - no_errors C8orf46 HGNC ENSG00000169085 49 0 0 56 15 21.1268 SGK3 0 genome.wustl.edu 37 8 67763157 67763157 + Splice_Site SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 67763157 67763157 T C SNP SGK3 ENST00000345714 human ensembl 74_37 +1 known splice_site c.1320+2 e15+2 1.000 - - - no_errors SGK3 HGNC ENSG00000104205 23 0 0 16 6 27.2727 PPP1R42 0 genome.wustl.edu 37 8 67929861 67929861 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 67929861 67929861 T C SNP PPP1R42 ENST00000522909 human ensembl 74_37 -1 known missense c.122 p.D41G 1.000 NULL pfam_Leu-rich_rpt - no_errors PPP1R42 HGNC ENSG00000178125 27 0 0 42 5 10.6383 SULF1 0 genome.wustl.edu 37 8 70570765 70570765 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 70570765 70570765 G T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.2611 p.G871C 1.000 pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 73 0 0 82 17 17.1717 JPH1 0 genome.wustl.edu 37 8 75227703 75227703 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 75227703 75227703 C T SNP JPH1 ENST00000342232 human ensembl 74_37 -1 known missense c.532 p.D178N 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH1 HGNC ENSG00000104369 31 0 0 61 17 21.7949 IMPA1 0 genome.wustl.edu 37 8 82586109 82586109 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 82586109 82586109 T C SNP IMPA1 ENST00000449740 human ensembl 74_37 -1 known missense c.601 p.N201D 1.000 pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen,prints_Inositol_monophosphatase - no_errors IMPA1 HGNC ENSG00000133731 117 0 0 178 27 13.1707 MFHAS1 0 genome.wustl.edu 37 8 8654933 8654933 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 8654933 8654933 G A SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known nonsense c.3067 p.R1023* 1.000 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 56 0 0 88 18 16.9811 POP1 0 genome.wustl.edu 37 8 99149090 99149090 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 99149090 99149090 G A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.1270 p.D424N 1.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 210 0 0 306 37 10.7872 POP1 0 genome.wustl.edu 37 8 99149097 99149097 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 99149097 99149097 C T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.1277 p.T426M 1.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 217 0 0 306 58 15.9341 KCNS2 0 genome.wustl.edu 37 8 99441361 99441361 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 99441361 99441361 C T SNP KCNS2 ENST00000287042 human ensembl 74_37 +1 known missense c.1154 p.T385M 0.998 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv2 - no_errors KCNS2 HGNC ENSG00000156486 199 0 0 264 51 16.1905 FOXE1 0 genome.wustl.edu 37 9 100616467 100616467 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 100616467 100616467 C T SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.271 p.R91C 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 FOXE1 HGNC ENSG00000178919 69 0 0 66 21 24.1379 STX17 0 genome.wustl.edu 37 9 102677556 102677556 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 102677556 102677556 G A SNP STX17 ENST00000259400 human ensembl 74_37 +1 known missense c.35 p.R12H 1.000 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 139 0 0 157 44 21.8905 ABCA1 0 genome.wustl.edu 37 9 107554238 107554238 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 107554238 107554238 G A SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known silent c.5799 p.C1933 0.955 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 50 0 0 65 7 9.72222 ACTL7B 0 genome.wustl.edu 37 9 111617781 111617781 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 111617781 111617781 C T SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known missense c.430 p.E144K 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 65 0 0 85 21 19.8113 PALM2 0 genome.wustl.edu 37 9 112705242 112705242 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 112705242 112705242 A G SNP PALM2 ENST00000448454 human ensembl 74_37 +1 known missense c.779 p.D260G 0.991 pfam_Paralemmin pfam_Paralemmin - no_errors PALM2 HGNC ENSG00000243444 70 0 0 104 29 21.8045 TXNDC8 0 genome.wustl.edu 37 9 113088522 113088522 + Splice_Site SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 113088522 113088522 T C SNP TXNDC8 ENST00000374511 human ensembl 74_37 -1 known splice_site c.190-2 e4-2 1.000 - - - no_errors TXNDC8 HGNC ENSG00000204193 234 0 0 247 65 20.8333 TNC 0 genome.wustl.edu 37 9 117849343 117849343 + Missense_Mutation SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 117849343 117849343 T G SNP TNC ENST00000350763 human ensembl 74_37 -1 known missense c.667 p.S223R 0.003 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 105 0 0 147 33 18.3333 PAPPA 0 genome.wustl.edu 37 9 119115183 119115183 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 119115183 119115183 G A SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known missense c.4163 p.R1388Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 40 0 0 47 15 24.1935 ASTN2 0 genome.wustl.edu 37 9 119582954 119582954 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 119582954 119582954 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known nonsense c.2149 p.Q717* 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 125 0 0 135 25 15.625 C5 0 genome.wustl.edu 37 9 123725021 123725021 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 123725021 123725021 G A SNP C5 ENST00000223642 human ensembl 74_37 -1 known missense c.4432 p.R1478W 1.000 pfam_A-macroglobulin_rcpt-bd,superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn_comp_syst_dom - no_errors C5 HGNC ENSG00000106804 204 0 0 189 44 18.8841 TYRP1 0 genome.wustl.edu 37 9 12694255 12694255 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 12694255 12694255 C T SNP TYRP1 ENST00000388918 human ensembl 74_37 +1 known missense c.259 p.R87W 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 41 0 0 59 8 11.9403 PBX3 0 genome.wustl.edu 37 9 128725316 128725316 + Missense_Mutation SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 128725316 128725316 A G SNP PBX3 ENST00000373489 human ensembl 74_37 +1 known missense c.1148 p.N383S 1.000 NULL pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX3 HGNC ENSG00000167081 54 0 0 33 12 26.6667 STXBP1 0 genome.wustl.edu 37 9 130442513 130442513 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 130442513 130442513 C T SNP STXBP1 ENST00000373299 human ensembl 74_37 +1 known silent c.1539 p.T513 0.140 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 162 0 0 219 47 17.6692 ODF2 0 genome.wustl.edu 37 9 131221884 131221884 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 131221884 131221884 C T SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known missense c.71 p.T24M 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 47 0 0 38 10 20.8333 SPTAN1 0 genome.wustl.edu 37 9 131346661 131346661 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 131346661 131346661 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.2294 p.R765H 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 75 0 0 79 17 17.7083 MPDZ 0 genome.wustl.edu 37 9 13221386 13221386 + Silent SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 13221386 13221386 T C SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known silent c.861 p.G287 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 92 0 0 115 30 20.6897 EXOSC2 0 genome.wustl.edu 37 9 133577549 133577549 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 133577549 133577549 C T SNP EXOSC2 ENST00000372358 human ensembl 74_37 +1 known missense c.524 p.S175F 1.000 NULL superfamily_NA-bd_OB-fold - no_errors EXOSC2 HGNC ENSG00000130713 86 0 0 81 20 19.802 FIBCD1 0 genome.wustl.edu 37 9 133780645 133780645 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 133780645 133780645 C T SNP FIBCD1 ENST00000372338 human ensembl 74_37 -1 known missense c.1102 p.V368M 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FIBCD1 HGNC ENSG00000130720 39 0 0 59 9 13.2353 NTNG2 0 genome.wustl.edu 37 9 135114577 135114577 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 135114577 135114577 C T SNP NTNG2 ENST00000360670 human ensembl 74_37 +1 known nonsense c.1159 p.R387* 0.990 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 95 0 0 122 7 5.42636 OLFM1 0 genome.wustl.edu 37 9 137998700 137998700 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 137998700 137998700 G A SNP OLFM1 ENST00000371793 human ensembl 74_37 +1 known missense c.782 p.R261Q 1.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like_supfam,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 22 0 0 19 4 17.3913 SNAPC4 0 genome.wustl.edu 37 9 139276353 139276353 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 139276353 139276353 G A SNP SNAPC4 ENST00000298532 human ensembl 74_37 -1 known missense c.2240 p.A747V 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC ENSG00000165684 55 0 0 46 10 17.8571 ZMYND19 0 genome.wustl.edu 37 9 140477041 140477041 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 140477041 140477041 C T SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known missense c.638 p.R213Q 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 107 0 0 106 17 13.8211 EHMT1 0 genome.wustl.edu 37 9 140638449 140638449 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 140638449 140638449 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.1077 p.D359 0.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 89 0 0 96 20 17.2414 ADAMTSL1 0 genome.wustl.edu 37 9 18795510 18795510 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 18795510 18795510 G A SNP ADAMTSL1 ENST00000380548 human ensembl 74_37 +1 novel missense c.3793 p.V1265I 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors ADAMTSL1 HGNC ENSG00000178031 32 0 0 34 7 17.0732 CDKN2A 0 genome.wustl.edu 37 9 21971194 21971194 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 21971194 21971194 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.164 p.G55D 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 29 0 0 33 5 13.1579 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 15 0 0 23 6 20.6897 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 28 0 0 32 6 15.7895 UNC13B 0 genome.wustl.edu 37 9 35400423 35400423 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 35400423 35400423 G A SNP UNC13B ENST00000378496 human ensembl 74_37 +1 known missense c.4220 p.R1407H 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13B HGNC ENSG00000198722 355 1 0.280899 377 98 20.6316 CA9 0 genome.wustl.edu 37 9 35674217 35674217 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 35674217 35674217 G T SNP CA9 ENST00000378357 human ensembl 74_37 +1 known missense c.261 p.E87D 0.000 NULL pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA9 HGNC ENSG00000107159 36 0 0 57 12 17.3913 ZCCHC7 0 genome.wustl.edu 37 9 37349416 37349416 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 37349416 37349416 C T SNP ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known silent c.1050 p.C350 1.000 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 89 0 0 125 25 16.6667 UHRF2 0 genome.wustl.edu 37 9 6498129 6498129 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 6498129 6498129 C T SNP UHRF2 ENST00000276893 human ensembl 74_37 +1 known missense c.1879 p.R627W 1.000 NULL pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin_dom,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors UHRF2 HGNC ENSG00000147854 67 0 0 60 19 24.0506 FLJ20444 0 genome.wustl.edu 37 9 66513581 66513581 + RNA SNP G G C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 66513581 66513581 G C SNP FLJ20444 ENST00000586625 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-262H14.3 Clone_based_vega_gene ENSG00000234665 15 0 0 17 11 39.2857 PGM5 0 genome.wustl.edu 37 9 70993121 70993121 + Nonsense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 70993121 70993121 C T SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known nonsense c.268 p.R90* 0.949 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 115 0 0 153 12 7.27273 TJP2 0 genome.wustl.edu 37 9 71831355 71831355 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 71831355 71831355 G A SNP TJP2 ENST00000539225 human ensembl 74_37 +1 known missense c.308 p.G103D 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 65 0 0 74 9 10.8434 KANK1 0 genome.wustl.edu 37 9 742244 742244 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 742244 742244 C T SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known missense c.3736 p.R1246W 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 156 0 0 188 28 12.963 TMEM2 0 genome.wustl.edu 37 9 74319544 74319544 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 74319544 74319544 C T SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.3161 p.R1054Q 0.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 115 0 0 135 19 12.3377 ALDH1A1 0 genome.wustl.edu 37 9 75533736 75533736 + Silent SNP A A G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 75533736 75533736 A G SNP ALDH1A1 ENST00000297785 human ensembl 74_37 -1 known silent c.750 p.V250 0.998 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A1 HGNC ENSG00000165092 88 0 0 115 28 19.5804 TRPM6 0 genome.wustl.edu 37 9 77416834 77416834 + Missense_Mutation SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 77416834 77416834 T G SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.1989 p.E663D 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 121 0 0 152 37 19.5767 PCSK5 0 genome.wustl.edu 37 9 78506228 78506228 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 78506228 78506228 C A SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.131 p.A44D 1.000 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 146 0 0 168 31 15.5779 PRUNE2 0 genome.wustl.edu 37 9 79322909 79322909 + Missense_Mutation SNP T T G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 79322909 79322909 T G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.3204 p.K1068N 0.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 106 0 0 140 21 13.0435 VPS13A 0 genome.wustl.edu 37 9 79954754 79954754 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 79954754 79954754 G A SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.6701 p.R2234Q 1.000 pfam_VPSAP_dom pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 164 0 0 179 38 17.5115 SPATA31D4 0 genome.wustl.edu 37 9 84547721 84547721 + RNA SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 84547721 84547721 G T SNP SPATA31D4 ENST00000341875 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D4 HGNC ENSG00000189357 32 0 0 42 12 22.2222 PTPRD 0 genome.wustl.edu 37 9 8504278 8504278 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 8504278 8504278 G A SNP PTPRD ENST00000356435 human ensembl 74_37 -1 known missense c.1805 p.A602V 0.969 superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC ENSG00000153707 174 0 0 181 37 16.9725 GAS1 0 genome.wustl.edu 37 9 89561072 89561072 + Missense_Mutation SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 89561072 89561072 T C SNP GAS1 ENST00000298743 human ensembl 74_37 -1 known missense c.623 p.E208G 1.000 pfam_GDNF/GAS1,smart_GDNF/GAS1 pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GAS1 HGNC ENSG00000180447 36 0 0 48 12 20 PTCH1 0 genome.wustl.edu 37 9 98229519 98229519 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 98229519 98229519 C T SNP PTCH1 ENST00000331920 human ensembl 74_37 -1 known silent c.2439 p.P813 0.140 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 260 0 0 258 59 18.612 GPRASP1 0 genome.wustl.edu 37 X 101912464 101912464 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 101912464 101912464 C T SNP GPRASP1 ENST00000361600 human ensembl 74_37 +1 known missense c.3623 p.P1208L 0.858 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 192 0 0 205 44 17.6707 PLP1 0 genome.wustl.edu 37 X 103031929 103031929 + Splice_Site SNP T T C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 103031929 103031929 T C SNP PLP1 ENST00000303958 human ensembl 74_37 +1 known splice_site c.4+2 e1+2 1.000 - - - no_errors PLP1 HGNC ENSG00000123560 44 0 0 51 8 13.5593 PRPS1 0 genome.wustl.edu 37 X 106888486 106888486 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 106888486 106888486 C T SNP PRPS1 ENST00000372435 human ensembl 74_37 +1 known missense c.610 p.R204C 1.000 pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase - no_errors PRPS1 HGNC ENSG00000147224 440 0 0 457 91 16.6058 IRS4 0 genome.wustl.edu 37 X 107978366 107978366 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 107978366 107978366 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.1209 p.S403 0.006 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 133 0 0 162 45 21.7391 RGAG1 0 genome.wustl.edu 37 X 109697463 109697463 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 109697463 109697463 G T SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known missense c.3618 p.E1206D 1.000 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 180 0 0 203 51 20.0787 AMOT 0 genome.wustl.edu 37 X 112054602 112054602 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 112054602 112054602 C T SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.1412 p.R471H 0.998 superfamily_Prefoldin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 250 1 0.398406 232 73 23.9344 SLC25A5 0 genome.wustl.edu 37 X 118602438 118602438 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 118602438 118602438 G A SNP SLC25A5 ENST00000475354 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors SLC25A5 HGNC ENSG00000005022 17 0 0 19 8 29.6296 TENM1 0 genome.wustl.edu 37 X 123518248 123518248 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 123518248 123518248 C T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.6533 p.R2178H 1.000 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 178 0 0 210 43 16.996 TENM1 0 genome.wustl.edu 37 X 123556221 123556221 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 123556221 123556221 G A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.4372 p.R1458C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 242 1 0.411523 244 56 18.6667 MAP7D3 0 genome.wustl.edu 37 X 135314317 135314317 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 135314317 135314317 C T SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.745 p.D249N 0.010 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 323 0 0 339 77 18.5096 RBMX 0 genome.wustl.edu 37 X 135961490 135961490 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 135961490 135961490 G A SNP RBMX ENST00000320676 human ensembl 74_37 -1 known nonsense c.97 p.R33* 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX HGNC ENSG00000147274 272 0 0 300 58 16.2011 ZIC3 0 genome.wustl.edu 37 X 136649750 136649750 + Missense_Mutation SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 136649750 136649750 G T SNP ZIC3 ENST00000287538 human ensembl 74_37 +1 known missense c.900 p.E300D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC3 HGNC ENSG00000156925 186 0 0 221 31 12.3016 ZIC3 0 genome.wustl.edu 37 X 136651058 136651058 + RNA SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 136651058 136651058 C T SNP ZIC3 ENST00000478471 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZIC3 HGNC ENSG00000156925 501 0 0 530 119 18.3359 SOX3 0 genome.wustl.edu 37 X 139586578 139586578 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 139586578 139586578 C T SNP SOX3 ENST00000370536 human ensembl 74_37 -1 known silent c.648 p.T216 0.999 pfam_TF_SOX pfam_HMG_box_dom,pfam_TF_SOX,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX3 HGNC ENSG00000134595 58 0 0 82 18 18 GPR50 0 genome.wustl.edu 37 X 150348463 150348463 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 150348463 150348463 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known silent c.408 p.Y136 0.918 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 196 0 0 206 47 18.5771 ABCD1 0 genome.wustl.edu 37 X 153001646 153001646 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 153001646 153001646 G A SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.1162 p.A388T 1.000 superfamily_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 160 0 0 224 34 13.1783 SSR4 0 genome.wustl.edu 37 X 153063827 153063827 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 153063827 153063827 C T SNP SSR4 ENST00000320857 human ensembl 74_37 +1 known missense c.461 p.A154V 0.084 pfam_TRAP-delta pfam_TRAP-delta - no_errors SSR4 HGNC ENSG00000180879 19 0 0 27 6 18.1818 L1CAM 0 genome.wustl.edu 37 X 153130652 153130652 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 153130652 153130652 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known silent c.2769 p.P923 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 31 0 0 46 9 16.3636 PLXNA3 0 genome.wustl.edu 37 X 153689697 153689697 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 153689697 153689697 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.853 p.R285C 0.998 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 148 0 0 152 32 17.3913 CNKSR2 0 genome.wustl.edu 37 X 21545078 21545078 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 21545078 21545078 C T SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.1051 p.L351F 1.000 pfam_CNKSR2 pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 646 0 0 655 171 20.7022 ZBED1 0 genome.wustl.edu 37 X 2406919 2406919 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 2406919 2406919 C T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known silent c.1842 p.T614 0.722 pfam_HATC_dom_C,superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 224 0 0 290 65 18.3099 EIF2S3 0 genome.wustl.edu 37 X 24086182 24086182 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 24086182 24086182 G A SNP EIF2S3 ENST00000253039 human ensembl 74_37 +1 known silent c.969 p.A323 0.001 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3 HGNC ENSG00000130741 135 0 0 136 39 22.2857 ARSE 0 genome.wustl.edu 37 X 2873550 2873550 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 2873550 2873550 C T SNP ARSE ENST00000545496 human ensembl 74_37 -1 known missense c.289 p.D97N 0.835 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 36 0 0 54 9 14.2857 MAGEB2 0 genome.wustl.edu 37 X 30236810 30236810 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 30236810 30236810 C A SNP MAGEB2 ENST00000378988 human ensembl 74_37 +1 known missense c.113 p.A38D 0.001 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB2 HGNC ENSG00000099399 25 0 0 35 16 31.3725 MXRA5 0 genome.wustl.edu 37 X 3248157 3248157 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 3248157 3248157 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.611 p.R204Q 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 36 0 0 52 14 21.2121 MXRA5 0 genome.wustl.edu 37 X 3261860 3261860 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 3261860 3261860 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.15 p.A5 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 43 0 0 55 9 14.0625 XK 0 genome.wustl.edu 37 X 37545411 37545411 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 37545411 37545411 G A SNP XK ENST00000378616 human ensembl 74_37 +1 known missense c.197 p.R66H 0.996 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XK HGNC ENSG00000047597 15 0 0 25 5 16.6667 TSPAN7 0 genome.wustl.edu 37 X 38540530 38540530 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 38540530 38540530 G A SNP TSPAN7 ENST00000422612 human ensembl 74_37 +1 known missense c.748 p.A250T 0.991 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 175 0 0 169 45 21.028 DUSP21 0 genome.wustl.edu 37 X 44703614 44703614 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 44703614 44703614 C T SNP DUSP21 ENST00000339042 human ensembl 74_37 +1 known missense c.236 p.S79L 0.114 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famB,prints_Atypical_DUSP - no_errors DUSP21 HGNC ENSG00000189037 172 0 0 205 45 18 UBA1 0 genome.wustl.edu 37 X 47061595 47061595 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 47061595 47061595 C T SNP UBA1 ENST00000335972 human ensembl 74_37 +1 known silent c.852 p.S284 0.716 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA1 HGNC ENSG00000130985 32 0 0 42 10 19.2308 ZNF157 0 genome.wustl.edu 37 X 47272407 47272407 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 47272407 47272407 G A SNP ZNF157 ENST00000377073 human ensembl 74_37 +1 known missense c.935 p.R312H 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 ZNF157 HGNC ENSG00000147117 43 0 0 37 11 22.9167 SSX6 0 genome.wustl.edu 37 X 47979522 47979522 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 47979522 47979522 G A SNP SSX6 ENST00000509958 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SSX6 HGNC ENSG00000171483 68 0 0 68 26 27.6596 KDM5C 0 genome.wustl.edu 37 X 53231066 53231066 + Silent SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 53231066 53231066 G A SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known silent c.1836 p.A612 0.178 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 82 0 0 100 23 18.6992 SMC1A 0 genome.wustl.edu 37 X 53436052 53436052 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 53436052 53436052 G A SNP SMC1A ENST00000322213 human ensembl 74_37 -1 known missense c.1486 p.R496C 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 101 0 0 121 37 23.4177 FGD1 0 genome.wustl.edu 37 X 54496509 54496509 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 54496509 54496509 C T SNP FGD1 ENST00000375135 human ensembl 74_37 -1 known silent c.1041 p.E347 0.954 NULL 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 53 0 0 57 7 10.9375 PAGE3 0 genome.wustl.edu 37 X 55287013 55287013 + Missense_Mutation SNP C C A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 55287013 55287013 C A SNP PAGE3 ENST00000374951 human ensembl 74_37 -1 known missense c.273 p.K91N 0.001 pfam_GAGE pfam_GAGE - no_errors PAGE3 HGNC ENSG00000204279 51 0 0 55 8 12.6984 ARHGEF9 0 genome.wustl.edu 37 X 62893977 62893977 + Nonsense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 62893977 62893977 G A SNP ARHGEF9 ENST00000253401 human ensembl 74_37 -1 known nonsense c.865 p.R289* 0.996 superfamily_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 82 0 0 87 17 16.3462 TAF1 0 genome.wustl.edu 37 X 70683799 70683799 + Missense_Mutation SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 70683799 70683799 C T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.5624 p.P1875L 0.996 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 19 0 0 34 7 17.0732 RGAG4 0 genome.wustl.edu 37 X 71350736 71350736 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 71350736 71350736 G A SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.655 p.R219C 0.973 pfam_Retrotrans_gag_dom pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 91 0 0 125 24 16.1074 PIN4 0 genome.wustl.edu 37 X 71406238 71406238 + Silent SNP C C T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 71406238 71406238 C T SNP PIN4 ENST00000373662 human ensembl 74_37 +1 known silent c.273 p.S91 0.000 NULL NULL - no_errors PIN4 HGNC ENSG00000102309 10 0 0 18 5 21.7391 MAP2K4P1 0 genome.wustl.edu 37 X 72744875 72744875 + RNA SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 72744875 72744875 G A SNP MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 81 0 0 79 16 16.8421 BRWD3 0 genome.wustl.edu 37 X 79951476 79951476 + Missense_Mutation SNP G G A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 79951476 79951476 G A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.3082 p.P1028S 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 37 0 0 72 12 14.2857 SHROOM2 0 genome.wustl.edu 37 X 9864477 9864477 + Silent SNP G G T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 9864477 9864477 G T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known silent c.2529 p.S843 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 46 0 0 60 15 20 FRRS1 0 genome.wustl.edu 37 1 100174665 100174665 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 100174665 100174665 A - DEL FRRS1 ENST00000287474 human ensembl 74_37 -1 known frame_shift_del c.1670 p.L557fs 1.000 NULL pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC ENSG00000156869 118 0 0 113 15 11.7188 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 150 0 0 159 22 12.1547 PSMA5 0 genome.wustl.edu 37 1 109944523 109944524 + RNA INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 109944523 109944524 - A INS PSMA5 ENST00000490870 human ensembl 74_37 -1 known rna NULL NULL 0.089:0.979 - - - no_errors PSMA5 HGNC ENSG00000143106 45 0 0 54 14 20.5882 EXOSC10 0 genome.wustl.edu 37 1 11128120 11128120 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 11128120 11128120 T - DEL EXOSC10 ENST00000376936 human ensembl 74_37 -1 known frame_shift_del c.2572 p.I858fs 0.002 NULL pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_HRDC_dom,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_HRDC_dom,pfscan_HRDC_dom - no_errors EXOSC10 HGNC ENSG00000171824 165 0 0 210 39 15.6627 SYCP1 0 genome.wustl.edu 37 1 115469134 115469134 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 115469134 115469134 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.1876 p.G629fs 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 19 0 0 24 6 20 SYCP1 0 genome.wustl.edu 37 1 115527420 115527421 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 115527420 115527421 - A INS SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_ins c.2634_2635 p.R881fs 0.008:0.018 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 110 0 0 108 14 11.4754 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 1290110 1290110 G - DEL MXRA8 ENST00000445648 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors MXRA8 HGNC ENSG00000162576 11 0 0 32 8 20 NUP210L 0 genome.wustl.edu 37 1 154067526 154067526 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 154067526 154067526 A - DEL NUP210L ENST00000368559 human ensembl 74_37 -1 known frame_shift_del c.2072 p.L691fs 0.995 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 71 0 0 84 25 22.9358 OR10Z1 0 genome.wustl.edu 37 1 158576487 158576487 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 158576487 158576487 G - DEL OR10Z1 ENST00000361284 human ensembl 74_37 +1 known frame_shift_del c.259 p.D89fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Z1 HGNC ENSG00000198967 508 0 0 494 55 10.0182 LOC100131825 0 genome.wustl.edu 37 1 159170735 159170735 + RNA DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 159170735 159170735 C - DEL LOC100131825 ENST00000415675 human ensembl 74_37 -1 known rna NULL NULL 0.819 - - - no_errors CTA-134P22.2 Clone_based_vega_gene ENSG00000225670 65 0 0 108 15 12.1951 SPEN 0 genome.wustl.edu 37 1 16260214 16260214 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 16260214 16260214 C - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.7479 p.P2495fs 0.001 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 173 0 0 231 33 12.5 POU2F1 0 genome.wustl.edu 37 1 167385179 167385181 + RNA DEL AAA AAA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 167385179 167385181 AAA - DEL POU2F1 ENST00000367865 human ensembl 74_37 +1 known rna NULL NULL 0.090:0.002:0.000 - - - no_errors POU2F1 HGNC ENSG00000143190 17 0 0 21 4 16 NADK 0 genome.wustl.edu 37 1 1687734 1687734 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 1687734 1687734 C - DEL NADK ENST00000344463 human ensembl 74_37 -1 known frame_shift_del c.983 p.G328fs 1.000 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 134 0 0 186 20 9.70874 TROVE2 0 genome.wustl.edu 37 1 193053997 193053997 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 193053997 193053997 A - DEL TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 10 0 0 24 8 25 ENSG00000230260 0 genome.wustl.edu 37 1 197411573 197411573 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 197411573 197411573 A - DEL ENSG00000230260 ENST00000422250 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-75C23.1 Clone_based_vega_gene ENSG00000230260 23 0 0 26 5 16.129 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 86 0 0 119 23 16.1972 CAMSAP2 0 genome.wustl.edu 37 1 200822549 200822549 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 200822549 200822549 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.3782 p.K1263fs 0.945 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 104 0 0 148 20 11.9048 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 204924033 204924033 C - DEL NFASC ENST00000367172 human ensembl 74_37 +1 known frame_shift_del c.489 p.P165fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NFASC HGNC ENSG00000163531 468 1 0.21322 489 76 13.4513 USP48 0 genome.wustl.edu 37 1 22033386 22033387 + Frame_Shift_Del DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 22033386 22033387 AA - DEL USP48 ENST00000529637 human ensembl 74_37 -1 novel frame_shift_del c.1975_1974 p.S659fs 0.000:0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 67 0 0 59 15 20.2703 DUSP10 0 genome.wustl.edu 37 1 221875662 221875663 + RNA DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 221875662 221875663 AA - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.067 - - - no_errors DUSP10 HGNC ENSG00000143507 77 0 0 91 19 17.2727 TRIM17 0 genome.wustl.edu 37 1 228596779 228596779 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 228596779 228596779 C - DEL TRIM17 ENST00000456946 human ensembl 74_37 -1 known frame_shift_del c.977 p.G326fs 0.000 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM17 HGNC ENSG00000162931 51 0 0 55 17 23.6111 ABCB10 0 genome.wustl.edu 37 1 229653865 229653865 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 229653865 229653865 T - DEL ABCB10 ENST00000498158 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ABCB10 HGNC ENSG00000135776 16 0 0 32 9 21.9512 KCNK1 0 genome.wustl.edu 37 1 233750103 233750105 + In_Frame_Del DEL CTT CTT - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 233750103 233750105 CTT - DEL KCNK1 ENST00000366621 human ensembl 74_37 +1 known in_frame_del c.186_188 p.F63in_frame_del 1.000:1.000:1.000 pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 22 0 0 36 4 10 KIF26B 0 genome.wustl.edu 37 1 245849479 245849479 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 245849479 245849479 C - DEL KIF26B ENST00000407071 human ensembl 74_37 +1 known frame_shift_del c.3194 p.R1067fs 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 59 0 0 81 18 18.1818 OR6F1 0 genome.wustl.edu 37 1 247875544 247875544 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 247875544 247875544 G - DEL OR6F1 ENST00000302084 human ensembl 74_37 -1 known frame_shift_del c.514 p.R172fs 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6F1 HGNC ENSG00000169214 165 0 0 179 40 18.2648 TMEM57 0 genome.wustl.edu 37 1 25775375 25775375 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 25775375 25775375 T - DEL TMEM57 ENST00000374343 human ensembl 74_37 +1 known frame_shift_del c.299 p.F102fs 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 118 0 0 135 26 16.1491 UBXN11 0 genome.wustl.edu 37 1 26608878 26608883 + In_Frame_Del DEL CCGGGA CCGGGA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CCGGGA CCGGGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 26608878 26608883 CCGGGA - DEL UBXN11 ENST00000374221 human ensembl 74_37 -1 known in_frame_del c.1475_1470 p.GP492in_frame_del 0.007:0.000:0.001:0.000:0.000:0.000 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 191 0 0 218 20 8.40336 ARID1A 0 genome.wustl.edu 37 1 27101268 27101268 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 27101268 27101268 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4550 p.Q1519fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 158 0 0 210 33 13.5802 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 55 0 0 68 8 10.5263 SYTL1 0 genome.wustl.edu 37 1 27680355 27680356 + RNA DEL CT CT - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 27680355 27680356 CT - DEL SYTL1 ENST00000490170 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors SYTL1 HGNC ENSG00000142765 88 0 0 112 9 7.43802 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384717 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 32384717 32384717 A - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 19 0 0 28 9 24.3243 ZBTB8OS 0 genome.wustl.edu 37 1 33087451 33087451 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 33087451 33087451 T - DEL ZBTB8OS ENST00000373506 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors ZBTB8OS HGNC ENSG00000176261 117 0 0 98 26 20.9677 MAP7D1 0 genome.wustl.edu 37 1 36636626 36636626 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 36636626 36636626 C - DEL MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_del c.101 p.P36fs 0.090 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 181 0 0 241 31 11.3971 EPHA10 0 genome.wustl.edu 37 1 38185238 38185238 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 38185238 38185238 G - DEL EPHA10 ENST00000427468 human ensembl 74_37 -1 known frame_shift_del c.2604 p.R869fs 0.983 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,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,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 EPHA10 HGNC ENSG00000183317 93 0 0 97 19 16.3793 BEND5 0 genome.wustl.edu 37 1 49201967 49201967 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 49201967 49201967 T - DEL BEND5 ENST00000371833 human ensembl 74_37 -1 known frame_shift_del c.1052 p.K351fs 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND5 HGNC ENSG00000162373 265 1 0.37594 278 59 17.5074 DMRTB1 0 genome.wustl.edu 37 1 53930351 53930353 + In_Frame_Del DEL GCC GCC - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 53930351 53930353 GCC - DEL DMRTB1 ENST00000371445 human ensembl 74_37 +1 known in_frame_del c.792_794 p.P268in_frame_del 0.001:0.809:0.780 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 47 0 0 57 7 10.9375 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 79 0 0 101 12 10.6195 JAK1 0 genome.wustl.edu 37 1 65339111 65339111 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 65339111 65339111 T - DEL JAK1 ENST00000342505 human ensembl 74_37 -1 known frame_shift_del c.425 p.K142fs 1.000 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak1,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors JAK1 HGNC ENSG00000162434 91 0 0 101 23 18.5484 MIER1 0 genome.wustl.edu 37 1 67442326 67442326 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 67442326 67442326 A - DEL MIER1 ENST00000401041 human ensembl 74_37 +1 known frame_shift_del c.1150 p.K385fs 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 129 1 0.769231 149 27 15.3409 CTBS 0 genome.wustl.edu 37 1 85020568 85020568 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 85020568 85020568 T - DEL CTBS ENST00000477677 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CTBS HGNC ENSG00000117151 21 0 0 26 8 23.5294 PKN2 0 genome.wustl.edu 37 1 89206848 89206848 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 89206848 89206848 A - DEL PKN2 ENST00000370521 human ensembl 74_37 +1 known frame_shift_del c.226 p.S78fs 1.000 pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN2 HGNC ENSG00000065243 40 0 0 61 11 15.2778 ZNF644 0 genome.wustl.edu 37 1 91382293 91382293 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 1 91382293 91382293 A - DEL ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 37 0 0 35 8 18.6047 IKZF5 0 genome.wustl.edu 37 10 124758127 124758127 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 124758127 124758127 T - DEL IKZF5 ENST00000368886 human ensembl 74_37 -1 known frame_shift_del c.15 p.K5fs 0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 129 0 0 148 35 19.1257 CPXM2 0 genome.wustl.edu 37 10 125528209 125528209 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 125528209 125528209 C - DEL CPXM2 ENST00000241305 human ensembl 74_37 -1 known frame_shift_del c.1132 p.A378fs 0.987 pfam_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 185 0 0 288 29 9.14826 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 162 1 0.613497 222 34 13.2812 ANK3 0 genome.wustl.edu 37 10 61831290 61831290 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 61831290 61831290 T - DEL ANK3 ENST00000280772 human ensembl 74_37 -1 known frame_shift_del c.9349 p.I3117fs 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 401 0 0 433 69 13.745 MYPN 0 genome.wustl.edu 37 10 69935180 69935180 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 69935180 69935180 A - DEL MYPN ENST00000358913 human ensembl 74_37 +1 known frame_shift_del c.2665 p.I891fs 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYPN HGNC ENSG00000138347 142 0 0 149 25 14.3678 TET1 0 genome.wustl.edu 37 10 70332153 70332153 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 70332153 70332153 A - DEL TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_del c.58 p.K22fs 0.855 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 66 0 0 59 17 22.3684 TET1 0 genome.wustl.edu 37 10 70451314 70451314 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 70451314 70451314 A - DEL TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_del c.6154 p.N2053fs 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 118 1 0.840336 158 13 7.60234 PLAU 0 genome.wustl.edu 37 10 75673437 75673438 + Frame_Shift_Ins INS - - G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 75673437 75673438 - G INS PLAU ENST00000372764 human ensembl 74_37 +1 known frame_shift_ins c.601_602 p.S204fs 0.156:0.201 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PLAU HGNC ENSG00000122861 210 0 0 263 25 8.68056 KCNMA1 0 genome.wustl.edu 37 10 78729786 78729786 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 78729786 78729786 T - DEL KCNMA1 ENST00000406533 human ensembl 74_37 -1 known frame_shift_del c.2318 p.K773fs 1.000 prints_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 97 0 0 86 20 18.8679 GATA3 0 genome.wustl.edu 37 10 8100727 8100728 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 8100727 8100728 - C INS GATA3 ENST00000379328 human ensembl 74_37 +1 known frame_shift_ins c.701_702 p.S237fs 1.000:1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 104 0 0 147 11 6.96203 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 141 1 0.704225 166 28 14.433 TNKS2 0 genome.wustl.edu 37 10 93601946 93601946 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 10 93601946 93601946 A - DEL TNKS2 ENST00000371627 human ensembl 74_37 +1 known frame_shift_del c.1857 p.N622fs 0.997 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt - no_errors TNKS2 HGNC ENSG00000107854 67 0 0 83 20 19.4175 CWF19L2 0 genome.wustl.edu 37 11 107299560 107299560 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 107299560 107299560 T - DEL CWF19L2 ENST00000282251 human ensembl 74_37 -1 known frame_shift_del c.1398 p.E467fs 0.186 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 395 0 0 373 65 14.8402 ATM 0 genome.wustl.edu 37 11 108117774 108117778 + Frame_Shift_Del DEL AGAGG AGAGG - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AGAGG AGAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 108117774 108117778 AGAGG - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.985_989 p.R329fs 0.998:1.000:1.000:1.000:1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 63 0 0 68 8 10.5263 DDX6 0 genome.wustl.edu 37 11 118629613 118629614 + Splice_Site INS - - G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 118629613 118629614 - G INS DDX6 ENST00000264018 human ensembl 74_37 -1 known splice_site_ins c.865-3_865-2 e8-2 1.000:0.856 - - - no_errors DDX6 HGNC ENSG00000110367 165 1 0.60241 219 39 15.1163 BCL9L 0 genome.wustl.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 118770651 118770652 - G INS BCL9L ENST00000334801 human ensembl 74_37 -1 known frame_shift_ins c.3381_3380 p.P1128fs 0.988:0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 49 0 0 59 14 19.1781 DPAGT1 0 genome.wustl.edu 37 11 118969143 118969143 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 118969143 118969143 A - DEL DPAGT1 ENST00000354202 human ensembl 74_37 -1 known frame_shift_del c.698 p.F233fs 1.000 pfam_Glycosyl_transferase_4 pfam_Glycosyl_transferase_4 - no_errors DPAGT1 HGNC ENSG00000172269 178 0 0 234 49 17.3145 ARHGEF12 0 genome.wustl.edu 37 11 120308057 120308057 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 120308057 120308057 A - DEL ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known frame_shift_del c.908 p.N304fs 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 112 1 0.884956 109 24 18.0451 IGSF9B 0 genome.wustl.edu 37 11 133807827 133807827 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 133807827 133807827 G - DEL IGSF9B ENST00000321016 human ensembl 74_37 -1 known frame_shift_del c.439 p.Q147fs 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 31 0 0 31 6 16.2162 KRTAP5-1 0 genome.wustl.edu 37 11 1606222 1606223 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 1606222 1606223 - T INS KRTAP5-1 ENST00000382171 human ensembl 74_37 -1 known frame_shift_ins c.258_257 p.C89fs 0.410:0.397 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 185 0 0 298 19 5.99369 SOX6 0 genome.wustl.edu 37 11 16208405 16208407 + In_Frame_Del DEL TCA TCA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 16208405 16208407 TCA - DEL SOX6 ENST00000352083 human ensembl 74_37 -1 known in_frame_del c.632_630 p.D210in_frame_del 1.000:1.000:0.990 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 338 0 0 440 35 7.36842 TPH1 0 genome.wustl.edu 37 11 18057575 18057576 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 18057575 18057576 - A INS TPH1 ENST00000341556 human ensembl 74_37 -1 known frame_shift_ins c.232_231 p.H77fs 1.000:1.000 pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC ENSG00000129167 60 0 0 72 14 16.2791 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 89 0 0 131 9 6.42857 TRIM51HP 0 genome.wustl.edu 37 11 55065032 55065032 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 55065032 55065032 T - DEL TRIM51HP ENST00000526016 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors TRIM51HP HGNC ENSG00000166007 72 0 0 76 31 28.972 GLYAT 0 genome.wustl.edu 37 11 58477306 58477307 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 58477306 58477307 - T INS GLYAT ENST00000344743 human ensembl 74_37 -1 known frame_shift_ins c.824_823 p.M275fs 0.000:0.000 pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYAT HGNC ENSG00000149124 137 0 0 181 20 9.95025 MARK2 0 genome.wustl.edu 37 11 63672263 63672263 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 63672263 63672263 C - DEL MARK2 ENST00000402010 human ensembl 74_37 +1 known frame_shift_del c.1682 p.Q563fs 1.000 NULL 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 MARK2 HGNC ENSG00000072518 179 0 0 207 33 13.75 MALAT1 0 genome.wustl.edu 37 11 65265772 65265773 + RNA INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 65265772 65265773 - A INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 47 0 0 53 11 17.1875 MALAT1 0 genome.wustl.edu 37 11 65271960 65271960 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 65271960 65271960 A - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors MALAT1 HGNC ENSG00000251562 77 0 0 52 15 22.3881 MALAT1 0 genome.wustl.edu 37 11 65272638 65272639 + RNA INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 65272638 65272639 - T INS MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 84 0 0 101 16 13.6752 LTBP3 0 genome.wustl.edu 37 11 65314283 65314283 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 65314283 65314283 C - DEL LTBP3 ENST00000301873 human ensembl 74_37 -1 known frame_shift_del c.2216 p.G739fs 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP3 HGNC ENSG00000168056 81 0 0 76 20 20.8333 SF3B2 0 genome.wustl.edu 37 11 65836146 65836146 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 65836146 65836146 A - DEL SF3B2 ENST00000322535 human ensembl 74_37 +1 known frame_shift_del c.2618 p.K875fs 1.000 NULL pfam_DUF382,pfam_PSP,pfam_SAP_dom,smart_SAP_dom,smart_PSP,pfscan_SAP_dom - no_errors SF3B2 HGNC ENSG00000087365 128 0 0 173 26 13.0653 RIN1 0 genome.wustl.edu 37 11 66102588 66102588 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 66102588 66102588 G - DEL RIN1 ENST00000311320 human ensembl 74_37 -1 known frame_shift_del c.682 p.L228fs 1.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN1 HGNC ENSG00000174791 126 0 0 179 10 5.29101 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 77784147 77784147 A - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207 p.F69fs 0.809 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 174 1 0.571429 206 45 17.9283 PIDD 0 genome.wustl.edu 37 11 799981 799981 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 11 799981 799981 C - DEL PIDD ENST00000347755 human ensembl 74_37 -1 known frame_shift_del c.2308 p.A770fs 0.000 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 56 0 0 99 18 15.3846 WNK1 0 genome.wustl.edu 37 12 1017928 1017928 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 1017928 1017928 C - DEL WNK1 ENST00000530271 human ensembl 74_37 +1 known frame_shift_del c.8613 p.P2873fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 100 0 0 153 17 10 CLEC9A 0 genome.wustl.edu 37 12 10205421 10205421 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 10205421 10205421 T - DEL CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CLEC9A HGNC ENSG00000197992 29 0 0 41 13 24.0741 GNPTAB 0 genome.wustl.edu 37 12 102158002 102158002 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 102158002 102158002 T - DEL GNPTAB ENST00000299314 human ensembl 74_37 -1 known frame_shift_del c.2693 p.K898fs 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 315 0 0 371 87 18.9956 TAS2R50 0 genome.wustl.edu 37 12 11139431 11139432 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 11139431 11139432 - A INS TAS2R50 ENST00000506868 human ensembl 74_37 -1 known frame_shift_ins c.29_28 p.S10fs 0.001:0.001 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R50 HGNC ENSG00000212126 105 0 0 118 16 11.9403 HECTD4 0 genome.wustl.edu 37 12 112600859 112600860 + Frame_Shift_Ins INS - - G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 112600859 112600860 - G INS HECTD4 ENST00000377560 human ensembl 74_37 -1 known frame_shift_ins c.12591_12590 p.D4198fs 0.555:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 200 0 0 186 80 30.0752 TAS2R42 0 genome.wustl.edu 37 12 11338799 11338799 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 11338799 11338799 A - DEL TAS2R42 ENST00000334266 human ensembl 74_37 -1 known frame_shift_del c.745 p.S249fs 0.015 pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors TAS2R42 HGNC ENSG00000186136 107 0 0 130 20 13.3333 HNF1A 0 genome.wustl.edu 37 12 121432115 121432115 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 121432115 121432115 G - DEL HNF1A ENST00000257555 human ensembl 74_37 +1 known frame_shift_del c.862 p.P291fs 0.964 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 19 0 0 15 5 25 RPL22P19 0 genome.wustl.edu 37 12 125420366 125420367 + RNA INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 125420366 125420367 - T INS RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 12 0 0 16 5 23.8095 STRAP 0 genome.wustl.edu 37 12 16047015 16047015 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 16047015 16047015 A - DEL STRAP ENST00000025399 human ensembl 74_37 +1 known frame_shift_del c.477 p.A162fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 158 0 0 215 49 18.5606 PLCZ1 0 genome.wustl.edu 37 12 18841025 18841025 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 18841025 18841025 T - DEL PLCZ1 ENST00000266505 human ensembl 74_37 -1 known frame_shift_del c.1589 p.N530fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC ENSG00000139151 113 0 0 165 31 15.8163 PLCZ1 0 genome.wustl.edu 37 12 18858251 18858252 + Splice_Site INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 18858251 18858252 - A INS PLCZ1 ENST00000266505 human ensembl 74_37 -1 known splice_site_ins c.715-3_715-2 e6-2 0.999:0.883 - - - no_errors PLCZ1 HGNC ENSG00000139151 165 1 0.60241 185 31 14.3519 PLEKHA5 0 genome.wustl.edu 37 12 19410380 19410381 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 19410380 19410381 - A INS PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_ins c.446_447 p.V152fs 0.998:0.510 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 154 0 0 146 37 20.2186 KCNA5 0 genome.wustl.edu 37 12 5154457 5154457 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 5154457 5154457 G - DEL KCNA5 ENST00000252321 human ensembl 74_37 +1 known frame_shift_del c.1144 p.G383fs 0.855 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 85 0 0 117 14 10.687 ZC3H10 0 genome.wustl.edu 37 12 56514991 56514991 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 56514991 56514991 C - DEL ZC3H10 ENST00000257940 human ensembl 74_37 +1 known frame_shift_del c.645 p.P217fs 0.932 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 89 0 0 144 23 13.7725 SLC16A7 0 genome.wustl.edu 37 12 60169112 60169112 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 60169112 60169112 T - DEL SLC16A7 ENST00000261187 human ensembl 74_37 +1 known frame_shift_del c.1036 p.F347fs 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC ENSG00000118596 299 0 0 281 119 29.75 GPR162 0 genome.wustl.edu 37 12 6933721 6933721 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 6933721 6933721 G - DEL GPR162 ENST00000311268 human ensembl 74_37 +1 known frame_shift_del c.657 p.G221fs 0.499 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 81 0 0 106 13 10.9244 MYF6 0 genome.wustl.edu 37 12 81101691 81101691 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 81101691 81101691 C - DEL MYF6 ENST00000228641 human ensembl 74_37 +1 known frame_shift_del c.193 p.P66fs 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 90 0 0 103 11 9.64912 ATP2B1 0 genome.wustl.edu 37 12 90020290 90020290 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 12 90020290 90020290 T - DEL ATP2B1 ENST00000261173 human ensembl 74_37 -1 known frame_shift_del c.1070 p.K357fs 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 125 0 0 96 59 38.0645 TM9SF2 0 genome.wustl.edu 37 13 100191740 100191740 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 100191740 100191740 C - DEL TM9SF2 ENST00000376387 human ensembl 74_37 +1 known frame_shift_del c.757 p.M255fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 254 0 0 343 55 13.8191 COL4A2 0 genome.wustl.edu 37 13 111114439 111114439 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 111114439 111114439 T - DEL COL4A2 ENST00000478681 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors COL4A2 HGNC ENSG00000134871 36 0 0 53 12 18.4615 COL4A2 0 genome.wustl.edu 37 13 111156323 111156324 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 111156323 111156324 - C INS COL4A2 ENST00000360467 human ensembl 74_37 +1 known frame_shift_ins c.4268_4269 p.G1426fs 1.000:0.956 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC ENSG00000134871 67 0 0 99 10 9.17431 MPHOSPH8 0 genome.wustl.edu 37 13 20245322 20245322 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 20245322 20245322 T - DEL MPHOSPH8 ENST00000496525 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MPHOSPH8 HGNC ENSG00000196199 53 0 0 56 16 22.2222 SACS 0 genome.wustl.edu 37 13 23912864 23912864 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 23912864 23912864 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.5151 p.K1717fs 0.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 71 0 0 90 12 11.7647 HMGB1 0 genome.wustl.edu 37 13 31037600 31037600 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 31037600 31037600 T - DEL HMGB1 ENST00000468384 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HMGB1 HGNC ENSG00000189403 122 1 0.813008 117 22 15.8273 COG6 0 genome.wustl.edu 37 13 40254101 40254101 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 40254101 40254101 T - DEL COG6 ENST00000465775 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COG6 HGNC ENSG00000133103 54 0 0 66 13 16.4557 CPB2 0 genome.wustl.edu 37 13 46658416 46658416 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 46658416 46658416 A - DEL CPB2 ENST00000181383 human ensembl 74_37 -1 known frame_shift_del c.213 p.F71fs 1.000 pfam_Prot_inh_M14A,superfamily_Prot_inh_propept pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB2 HGNC ENSG00000080618 172 0 0 186 43 18.7773 SETDB2 0 genome.wustl.edu 37 13 50057691 50057691 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 13 50057691 50057691 A - DEL SETDB2 ENST00000317257 human ensembl 74_37 +1 known frame_shift_del c.1510 p.M506fs 0.237 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 21 0 0 30 5 14.2857 DYNC1H1 0 genome.wustl.edu 37 14 102476416 102476416 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 102476416 102476416 T - DEL DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known frame_shift_del c.6214 p.F2073fs 0.999 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 196 0 0 186 30 13.8889 PPP1R13B 0 genome.wustl.edu 37 14 104206432 104206432 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 104206432 104206432 G - DEL PPP1R13B ENST00000202556 human ensembl 74_37 -1 known frame_shift_del c.2321 p.P774fs 0.035 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain - no_errors PPP1R13B HGNC ENSG00000088808 153 0 0 154 31 16.7568 CPNE6 0 genome.wustl.edu 37 14 24546805 24546806 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 24546805 24546806 - C INS CPNE6 ENST00000537691 human ensembl 74_37 +1 known frame_shift_ins c.1705_1706 p.S571fs 0.850:0.993 pfscan_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE6 HGNC ENSG00000100884 433 0 0 544 65 10.6732 NPAS3 0 genome.wustl.edu 37 14 34243648 34243648 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 34243648 34243648 C - DEL NPAS3 ENST00000356141 human ensembl 74_37 +1 known frame_shift_del c.958 p.P321fs 1.000 smart_PAS pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 169 0 0 210 36 14.6341 SEC23A 0 genome.wustl.edu 37 14 39514487 39514487 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 39514487 39514487 A - DEL SEC23A ENST00000307712 human ensembl 74_37 -1 known frame_shift_del c.1779 p.F593fs 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC23A HGNC ENSG00000100934 74 0 0 75 20 21.0526 FANCM 0 genome.wustl.edu 37 14 45645955 45645955 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 45645955 45645955 A - DEL FANCM ENST00000267430 human ensembl 74_37 +1 known frame_shift_del c.3998 p.V1336fs 0.008 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 90 0 0 103 11 9.64912 PELI2 0 genome.wustl.edu 37 14 56757067 56757067 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 56757067 56757067 G - DEL PELI2 ENST00000267460 human ensembl 74_37 +1 known frame_shift_del c.589 p.G198fs 0.996 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI2 HGNC ENSG00000139946 211 0 0 273 44 13.8801 SYNE2 0 genome.wustl.edu 37 14 64564782 64564784 + In_Frame_Del DEL AAG AAG - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 64564782 64564784 AAG - DEL SYNE2 ENST00000358025 human ensembl 74_37 +1 known in_frame_del c.12224_12226 p.E4076in_frame_del 0.248:0.006:0.004 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 104 0 0 126 34 21.25 ERH 0 genome.wustl.edu 37 14 69847232 69847232 + RNA DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 69847232 69847232 C - DEL ERH ENST00000216520 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ERH HGNC ENSG00000100632 142 1 0.699301 180 43 19.2825 FOXN3 0 genome.wustl.edu 37 14 89878534 89878534 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 89878534 89878534 G - DEL FOXN3 ENST00000261302 human ensembl 74_37 -1 known frame_shift_del c.287 p.P96fs 0.998 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 134 0 0 150 28 15.7303 NDUFB1 0 genome.wustl.edu 37 14 92587868 92587869 + RNA INS - - G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 14 92587868 92587869 - G INS NDUFB1 ENST00000556555 human ensembl 74_37 -1 putative rna NULL NULL 0.002:0.000 - - - no_errors NDUFB1 HGNC ENSG00000183648 39 0 0 32 9 21.9512 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 18 0 0 21 7 25 SNORD115-33 0 genome.wustl.edu 37 15 25476032 25476033 + RNA INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 25476032 25476033 - A INS SNORD115-33 ENST00000363723 human ensembl 74_37 +1 known rna NULL NULL 0.993:0.994 - - - no_errors SNORD115-33 HGNC ENSG00000200593 396 0 0 502 89 15.0592 TRPM1 0 genome.wustl.edu 37 15 31329989 31329989 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 31329989 31329989 T - DEL TRPM1 ENST00000542188 human ensembl 74_37 -1 known frame_shift_del c.2547 p.K849fs 0.992 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC ENSG00000134160 105 0 0 113 22 16.2963 NUTM1 0 genome.wustl.edu 37 15 34647969 34647969 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 34647969 34647969 C - DEL NUTM1 ENST00000333756 human ensembl 74_37 +1 known frame_shift_del c.1676 p.S561fs 0.004 NULL NULL - no_errors NUTM1 HGNC ENSG00000184507 136 0 0 175 24 12.0603 CDAN1 0 genome.wustl.edu 37 15 43023871 43023871 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 43023871 43023871 G - DEL CDAN1 ENST00000356231 human ensembl 74_37 -1 known frame_shift_del c.1686 p.T563fs 0.881 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 103 0 0 145 14 8.80503 PIGB 0 genome.wustl.edu 37 15 55621921 55621922 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 15 55621921 55621922 - T INS PIGB ENST00000164305 human ensembl 74_37 +1 known frame_shift_ins c.524_523 p.C177fs 1.000:1.000 pfam_GPI_mannosylTrfase pfam_GPI_mannosylTrfase - no_errors PIGB HGNC ENSG00000069943 174 0 0 203 38 15.7676 CRAMP1L 0 genome.wustl.edu 37 16 1706239 1706239 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 1706239 1706239 C - DEL CRAMP1L ENST00000293925 human ensembl 74_37 +1 known frame_shift_del c.1481 p.E497fs 0.070 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors CRAMP1L HGNC ENSG00000007545 45 0 0 45 12 21.0526 HAGH 0 genome.wustl.edu 37 16 1867176 1867176 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 1867176 1867176 G - DEL HAGH ENST00000397356 human ensembl 74_37 -1 known frame_shift_del c.638 p.P213fs 0.896 pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase pfam_Beta-lactamas-like,smart_Beta-lactamas-like,tigrfam_Hydroxyacylglutathione_Hdrlase - no_errors HAGH HGNC ENSG00000063854 85 0 0 96 16 14.2857 OTOA 0 genome.wustl.edu 37 16 21721321 21721321 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 21721321 21721321 C - DEL OTOA ENST00000286149 human ensembl 74_37 +1 known frame_shift_del c.1259 p.E422fs 0.997 NULL NULL - no_errors OTOA HGNC ENSG00000155719 70 0 0 64 13 16.8831 PRRT2 0 genome.wustl.edu 37 16 29825015 29825016 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 29825015 29825016 - C INS PRRT2 ENST00000567659 human ensembl 74_37 +1 known frame_shift_ins c.640_641 p.R217fs 1.000:1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 35 0 0 38 10 20.8333 SETD1A 0 genome.wustl.edu 37 16 30977316 30977317 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 30977316 30977317 - C INS SETD1A ENST00000262519 human ensembl 74_37 +1 known frame_shift_ins c.2114_2115 p.G708fs 0.763:0.729 NULL pfam_COMPASS_Set1_N-SET,pfam_SET_dom,pfam_RRM_dom,smart_RRM_dom,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_RRM_dom - no_errors SETD1A HGNC ENSG00000099381 142 0 0 160 16 9.09091 CNOT1 0 genome.wustl.edu 37 16 58589340 58589340 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 58589340 58589340 A - DEL CNOT1 ENST00000317147 human ensembl 74_37 -1 known frame_shift_del c.2706 p.Q904fs 0.995 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 282 0 0 310 60 16.2162 C16orf70 0 genome.wustl.edu 37 16 67180989 67180989 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 67180989 67180989 C - DEL C16orf70 ENST00000219139 human ensembl 74_37 +1 known frame_shift_del c.1224 p.R411fs 0.994 NULL pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 247 0 0 286 30 9.49367 PLEKHG4 0 genome.wustl.edu 37 16 67318243 67318243 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 67318243 67318243 C - DEL PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known frame_shift_del c.1575 p.P527fs 0.041 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 38 0 0 51 6 10.5263 WDR90 0 genome.wustl.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 709106 709106 C - DEL WDR90 ENST00000549091 human ensembl 74_37 +1 novel frame_shift_del c.3032 p.P1013fs 0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 140 0 0 177 22 11.0553 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 71803440 71803440 A - DEL AP1G1 ENST00000423132 human ensembl 74_37 -1 known splice_site_del c.643-1 e6-1 0.996 - - - no_errors AP1G1 HGNC ENSG00000166747 31 0 0 38 8 17.3913 BCAR1 0 genome.wustl.edu 37 16 75263554 75263556 + In_Frame_Del DEL AGG AGG - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 75263554 75263556 AGG - DEL BCAR1 ENST00000418647 human ensembl 74_37 -1 known in_frame_del c.2606_2604 p.L869in_frame_del 1.000:1.000:0.970 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 36 0 0 56 16 22.2222 CFDP1 0 genome.wustl.edu 37 16 75327732 75327732 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 16 75327732 75327732 A - DEL CFDP1 ENST00000570103 human ensembl 74_37 -1 known rna NULL NULL 0.940 - - - no_errors CFDP1 HGNC ENSG00000153774 15 0 0 18 5 21.7391 B9D1 0 genome.wustl.edu 37 17 19263639 19263639 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 19263639 19263639 G - DEL B9D1 ENST00000261499 human ensembl 74_37 -1 known frame_shift_del c.126 p.T43fs 1.000 pfam_B9_dom pfam_B9_dom - no_errors B9D1 HGNC ENSG00000108641 344 0 0 374 44 10.5263 ALDH3A1 0 genome.wustl.edu 37 17 19646567 19646567 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 19646567 19646567 G - DEL ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known frame_shift_del c.372 p.M125fs 0.943 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 78 0 0 85 14 14.1414 EFCAB5 0 genome.wustl.edu 37 17 28296060 28296061 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 28296060 28296061 - A INS EFCAB5 ENST00000394835 human ensembl 74_37 +1 known frame_shift_ins c.442_443 p.L151fs 0.000:0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 17 0 0 21 6 22.2222 NF1 0 genome.wustl.edu 37 17 29677244 29677244 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 29677244 29677244 A - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.7365 p.K2456fs 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 169 0 0 222 33 12.9412 NF1 0 genome.wustl.edu 37 17 29683984 29683985 + Frame_Shift_Del DEL AG AG - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 29683984 29683985 AG - DEL NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_del c.7745_7746 p.R2583fs 0.964:0.737 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 344 0 0 343 55 13.8191 TMEM99 0 genome.wustl.edu 37 17 38991373 38991373 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 38991373 38991373 T - DEL TMEM99 ENST00000301665 human ensembl 74_37 +1 known frame_shift_del c.605 p.L204fs 0.000 NULL NULL - no_errors TMEM99 HGNC ENSG00000167920 124 0 0 132 28 17.5 WNK4 0 genome.wustl.edu 37 17 40939467 40939467 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 40939467 40939467 C - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1648 p.S552fs 0.013 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 154 0 0 204 34 14.2857 EFCAB13 0 genome.wustl.edu 37 17 45412714 45412715 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 45412714 45412715 - A INS EFCAB13 ENST00000331493 human ensembl 74_37 +1 known frame_shift_ins c.183_184 p.I63fs 0.005:0.011 NULL NULL - no_errors EFCAB13 HGNC ENSG00000178852 48 0 0 50 12 19.3548 RPL12P38 0 genome.wustl.edu 37 17 58512419 58512419 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 58512419 58512419 A - DEL RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 13 0 0 19 6 24 RECQL5 0 genome.wustl.edu 37 17 73658970 73658971 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 17 73658970 73658971 - T INS RECQL5 ENST00000317905 human ensembl 74_37 -1 known frame_shift_ins c.360_359 p.P121fs 0.988:0.990 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 475 0 0 548 113 17.0953 CEP76 0 genome.wustl.edu 37 18 12678201 12678201 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 12678201 12678201 G - DEL CEP76 ENST00000262127 human ensembl 74_37 -1 known frame_shift_del c.1530 p.P512fs 0.966 NULL superfamily_C2_dom - no_errors CEP76 HGNC ENSG00000101624 193 1 0.515464 218 39 15.1751 CEP192 0 genome.wustl.edu 37 18 13049146 13049146 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 13049146 13049146 A - DEL CEP192 ENST00000506447 human ensembl 74_37 +1 known frame_shift_del c.2356 p.T788fs 0.947 NULL NULL - no_errors CEP192 HGNC ENSG00000101639 74 0 0 106 18 14.5161 RNMT 0 genome.wustl.edu 37 18 13746253 13746253 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 13746253 13746253 A - DEL RNMT ENST00000262173 human ensembl 74_37 +1 known frame_shift_del c.1174 p.T394fs 1.000 pfam_mRNA_G-N7_MeTrfase_dom,pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ENSG00000101654 122 0 0 144 32 18.1818 OSBPL1A 0 genome.wustl.edu 37 18 21750331 21750331 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 21750331 21750331 T - DEL OSBPL1A ENST00000319481 human ensembl 74_37 -1 known frame_shift_del c.2378 p.N793fs 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC ENSG00000141447 170 0 0 185 39 17.4107 ENSG00000263606 0 genome.wustl.edu 37 18 2946534 2946534 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 2946534 2946534 T - DEL ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 34 0 0 40 10 20 SYT4 0 genome.wustl.edu 37 18 40857246 40857246 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 40857246 40857246 T - DEL SYT4 ENST00000255224 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 98 0 0 105 10 8.69565 SETBP1 0 genome.wustl.edu 37 18 42533199 42533200 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 42533199 42533200 - A INS SETBP1 ENST00000282030 human ensembl 74_37 +1 known frame_shift_ins c.3894_3895 p.R1299fs 1.000:1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 129 0 0 135 16 10.596 ALPK2 0 genome.wustl.edu 37 18 56246941 56246941 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 56246941 56246941 A - DEL ALPK2 ENST00000361673 human ensembl 74_37 -1 known frame_shift_del c.1067 p.L356fs 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 126 0 0 155 40 20.5128 LMAN1 0 genome.wustl.edu 37 18 57013194 57013194 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 57013194 57013194 T - DEL LMAN1 ENST00000251047 human ensembl 74_37 -1 known frame_shift_del c.912 p.E305fs 0.898 superfamily_HMG_box_dom pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 165 0 0 191 45 19.0678 SOGA2 0 genome.wustl.edu 37 18 8785836 8785836 + RNA DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 18 8785836 8785836 C - DEL SOGA2 ENST00000523811 human ensembl 74_37 +1 known rna NULL NULL 0.086 - - - no_errors SOGA2 HGNC ENSG00000168502 25 0 0 23 4 14.8148 ENSG00000267387 0 genome.wustl.edu 37 19 10200538 10200538 + RNA DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 10200538 10200538 C - DEL ENSG00000267387 ENST00000589622 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors CTD-2240E14.4 Clone_based_vega_gene ENSG00000267387 16 0 0 18 4 18.1818 EIF3G 0 genome.wustl.edu 37 19 10227489 10227491 + In_Frame_Del DEL CTC CTC - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 10227489 10227491 CTC - DEL EIF3G ENST00000253108 human ensembl 74_37 -1 known in_frame_del c.582_580 p.E194in_frame_del 1.000:1.000:1.000 pirsf_eIF3_g pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3_g,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 147 0 0 224 25 10.0402 C19orf26 0 genome.wustl.edu 37 19 1231034 1231034 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 1231034 1231034 G - DEL C19orf26 ENST00000590083 human ensembl 74_37 -1 known frame_shift_del c.1220 p.P407fs 0.001 NULL NULL - no_errors C19orf26 HGNC ENSG00000099625 55 0 0 66 11 14.2857 CACNA1A 0 genome.wustl.edu 37 19 13395982 13395983 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 13395982 13395983 - T INS CACNA1A ENST00000360228 human ensembl 74_37 -1 known frame_shift_ins c.3592_3591 p.E1197fs 1.000:1.000 prints_VDCC_P/Q_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 115 0 0 141 19 11.875 REXO1 0 genome.wustl.edu 37 19 1828553 1828553 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 1828553 1828553 C - DEL REXO1 ENST00000170168 human ensembl 74_37 -1 known frame_shift_del c.235 p.E79fs 0.000 NULL pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 53 0 0 69 10 12.6582 ZNF506 0 genome.wustl.edu 37 19 19906351 19906351 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 19906351 19906351 T - DEL ZNF506 ENST00000443905 human ensembl 74_37 -1 known frame_shift_del c.345 p.G116fs 0.861 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF506 HGNC ENSG00000081665 109 0 0 149 21 12.3529 ZNF682 0 genome.wustl.edu 37 19 20116856 20116856 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 20116856 20116856 T - DEL ZNF682 ENST00000397165 human ensembl 74_37 -1 known frame_shift_del c.1455 p.K485fs 0.035 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF682 HGNC ENSG00000197124 108 0 0 177 28 13.6585 RGS9BP 0 genome.wustl.edu 37 19 33167776 33167776 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 33167776 33167776 G - DEL RGS9BP ENST00000334176 human ensembl 74_37 +1 known frame_shift_del c.607 p.G205fs 0.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 16 0 0 14 5 26.3158 C19orf40 0 genome.wustl.edu 37 19 33464996 33464997 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 33464996 33464997 - A INS C19orf40 ENST00000588258 human ensembl 74_37 +1 known frame_shift_ins c.274_275 p.T94fs 1.000:1.000 NULL superfamily_RuvA_2-like - no_errors C19orf40 HGNC ENSG00000131944 73 0 0 98 26 20.9677 ZNF570 0 genome.wustl.edu 37 19 37975122 37975122 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 37975122 37975122 A - DEL ZNF570 ENST00000330173 human ensembl 74_37 +1 known frame_shift_del c.598 p.N202fs 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ENSG00000171827 345 0 0 411 86 17.3038 ZNF540 0 genome.wustl.edu 37 19 38102620 38102620 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 38102620 38102620 A - DEL ZNF540 ENST00000316433 human ensembl 74_37 +1 known frame_shift_del c.439 p.M149fs 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF540 HGNC ENSG00000171817 184 1 0.540541 175 43 19.7248 ZFP36 0 genome.wustl.edu 37 19 39898575 39898575 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 39898575 39898575 C - DEL ZFP36 ENST00000597629 human ensembl 74_37 +1 known frame_shift_del c.235 p.P80fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 61 0 0 90 7 7.21649 SUPT5H 0 genome.wustl.edu 37 19 39959402 39959402 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 39959402 39959402 G - DEL SUPT5H ENST00000432763 human ensembl 74_37 +1 known frame_shift_del c.1044 p.G350fs 0.964 pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 112 0 0 115 33 22.2973 TIMM50 0 genome.wustl.edu 37 19 39977066 39977066 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 39977066 39977066 C - DEL TIMM50 ENST00000314349 human ensembl 74_37 +1 known frame_shift_del c.936 p.H314fs 1.000 pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF - no_errors TIMM50 HGNC ENSG00000105197 188 0 0 229 34 12.9278 ERF 0 genome.wustl.edu 37 19 42753368 42753368 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 42753368 42753368 C - DEL ERF ENST00000222329 human ensembl 74_37 -1 known frame_shift_del c.896 p.G299fs 0.941 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERF HGNC ENSG00000105722 31 0 0 39 3 7.14286 SIX5 0 genome.wustl.edu 37 19 46269107 46269107 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 46269107 46269107 G - DEL SIX5 ENST00000317578 human ensembl 74_37 -1 known frame_shift_del c.1872 p.A625fs 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX5 HGNC ENSG00000177045 26 0 0 35 7 16.6667 HSD17B14 0 genome.wustl.edu 37 19 49316983 49316984 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 49316983 49316984 - C INS HSD17B14 ENST00000263278 human ensembl 74_37 -1 known frame_shift_ins c.479_478 p.A160fs 1.000:1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B14 HGNC ENSG00000087076 130 1 0.763359 149 26 14.8571 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 68 0 0 113 6 5.04202 LOC101928780 0 genome.wustl.edu 37 19 54627040 54627041 + RNA DEL CA CA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 54627040 54627041 CA - DEL LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 17 0 0 43 8 15.6863 LOC101928780 0 genome.wustl.edu 37 19 54628068 54628068 + RNA DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 54628068 54628068 C - DEL LOC101928780 ENST00000452097 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012314.8 Clone_based_vega_gene ENSG00000237017 51 0 0 82 7 7.86517 BRSK1 0 genome.wustl.edu 37 19 55815036 55815036 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 55815036 55815036 C - DEL BRSK1 ENST00000590333 human ensembl 74_37 +1 known frame_shift_del c.1176 p.R395fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 130 1 0.763359 116 54 31.7647 U2AF2 0 genome.wustl.edu 37 19 56173906 56173906 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 56173906 56173906 G - DEL U2AF2 ENST00000308924 human ensembl 74_37 +1 known frame_shift_del c.525 p.L178fs 0.923 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg - no_errors U2AF2 HGNC ENSG00000063244 86 0 0 130 29 18.239 SAFB 0 genome.wustl.edu 37 19 5667115 5667115 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 5667115 5667115 G - DEL SAFB ENST00000588852 human ensembl 74_37 +1 known frame_shift_del c.2393 p.G800fs 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 109 0 0 147 19 11.4458 VAV1 0 genome.wustl.edu 37 19 6832176 6832178 + In_Frame_Del DEL GAA GAA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 19 6832176 6832178 GAA - DEL VAV1 ENST00000602142 human ensembl 74_37 +1 known in_frame_del c.1473_1475 p.K494in_frame_del 1.000:1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 69 0 0 71 9 11.25 CCDC138 0 genome.wustl.edu 37 2 109421455 109421455 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 109421455 109421455 A - DEL CCDC138 ENST00000295124 human ensembl 74_37 +1 known frame_shift_del c.846 p.K284fs 0.996 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 41 0 0 49 11 18.3333 CCDC93 0 genome.wustl.edu 37 2 118732806 118732806 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 118732806 118732806 T - DEL CCDC93 ENST00000376300 human ensembl 74_37 -1 known frame_shift_del c.708 p.A237fs 0.987 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 370 0 0 408 72 15 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 67 0 0 67 22 24.7191 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 237 1 0.420168 167 80 32.3887 RBM43 0 genome.wustl.edu 37 2 152112048 152112048 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 152112048 152112048 T - DEL RBM43 ENST00000331426 human ensembl 74_37 -1 known frame_shift_del c.213 p.V72fs 0.948 pfscan_RRM_dom pfscan_RRM_dom - no_errors RBM43 HGNC ENSG00000184898 208 0 0 231 52 18.3746 RIF1 0 genome.wustl.edu 37 2 152320989 152320989 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 152320989 152320989 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.4955 p.N1654fs 0.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 76 0 0 83 17 17 GALNT5 0 genome.wustl.edu 37 2 158167732 158167733 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 158167732 158167733 - T INS GALNT5 ENST00000259056 human ensembl 74_37 +1 known frame_shift_ins c.2695_2696 p.E901fs 1.000:1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT5 HGNC ENSG00000136542 200 0 0 244 57 18.9369 RAD51AP2 0 genome.wustl.edu 37 2 17697087 17697088 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 17697087 17697088 - A INS RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known frame_shift_ins c.2596_2595 p.P865fs 0.000:0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 47 0 0 43 7 14 SMC6 0 genome.wustl.edu 37 2 17898126 17898126 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 17898126 17898126 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.1306 p.I436fs 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 59 0 0 77 14 15.3846 FAM171B 0 genome.wustl.edu 37 2 187626384 187626384 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 187626384 187626384 A - DEL FAM171B ENST00000304698 human ensembl 74_37 +1 known frame_shift_del c.1315 p.K440fs 0.118 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171B HGNC ENSG00000144369 143 0 0 151 31 17.033 PMS1 0 genome.wustl.edu 37 2 190670540 190670540 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 190670540 190670540 A - DEL PMS1 ENST00000409985 human ensembl 74_37 +1 novel frame_shift_del c.478 p.K163fs 0.001 NULL pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd - no_errors PMS1 HGNC ENSG00000064933 20 0 0 31 7 18.4211 CCDC150 0 genome.wustl.edu 37 2 197531519 197531519 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 197531519 197531519 A - DEL CCDC150 ENST00000389175 human ensembl 74_37 +1 known frame_shift_del c.839 p.K283fs 0.374 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 41 0 0 48 18 27.2727 ENSG00000257045 0 genome.wustl.edu 37 2 200193649 200193649 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 200193649 200193649 A - DEL ENSG00000257045 ENST00000489557 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-486F17.1 Clone_based_vega_gene ENSG00000257045 24 0 0 48 9 15.7895 KANSL1L 0 genome.wustl.edu 37 2 210887680 210887680 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 210887680 210887680 T - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.2957 p.N986fs 0.980 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 67 0 0 86 22 20.3704 KANSL1L 0 genome.wustl.edu 37 2 211019062 211019062 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 211019062 211019062 A - DEL KANSL1L ENST00000281772 human ensembl 74_37 -1 known frame_shift_del c.245 p.L82fs 1.000 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 128 0 0 159 35 18.0412 TRIP12 0 genome.wustl.edu 37 2 230724115 230724116 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 230724115 230724116 - T INS TRIP12 ENST00000283943 human ensembl 74_37 -1 known frame_shift_ins c.274_273 p.P91fs 1.000:1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 289 0 0 294 67 18.5596 ITSN2 0 genome.wustl.edu 37 2 24494722 24494722 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 24494722 24494722 T - DEL ITSN2 ENST00000355123 human ensembl 74_37 -1 known frame_shift_del c.2170 p.T724fs 0.120 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 152 0 0 171 27 13.6364 MAPRE3 0 genome.wustl.edu 37 2 27248517 27248517 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 27248517 27248517 C - DEL MAPRE3 ENST00000233121 human ensembl 74_37 +1 known frame_shift_del c.536 p.C182fs 1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,superfamily_EB1_C,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 94 0 0 165 13 7.30337 CCDC88A 0 genome.wustl.edu 37 2 55561924 55561925 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 55561924 55561925 - T INS CCDC88A ENST00000436346 human ensembl 74_37 -1 known frame_shift_ins c.2033_2032 p.T678fs 0.998:1.000 NULL pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 51 0 0 48 11 18.6441 BCL11A 0 genome.wustl.edu 37 2 60687583 60687584 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 60687583 60687584 - T INS BCL11A ENST00000335712 human ensembl 74_37 -1 known frame_shift_ins c.2464_2463 p.W821fs 1.000:1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 254 0 0 297 58 16.338 UGP2 0 genome.wustl.edu 37 2 64069278 64069281 + RNA DEL AAAA AAAA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 64069278 64069281 AAAA - DEL UGP2 ENST00000484056 human ensembl 74_37 +1 known rna NULL NULL 0.271:0.359:0.509:0.020 - - - no_errors UGP2 HGNC ENSG00000169764 164 0 0 202 33 14.0426 ATP6V1B1 0 genome.wustl.edu 37 2 71191573 71191573 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 71191573 71191573 C - DEL ATP6V1B1 ENST00000234396 human ensembl 74_37 +1 known frame_shift_del c.1149 p.I386fs 0.999 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ENSG00000116039 142 1 0.699301 172 25 12.6904 MCEE 0 genome.wustl.edu 37 2 71337212 71337212 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 71337212 71337212 T - DEL MCEE ENST00000244217 human ensembl 74_37 -1 known frame_shift_del c.419 p.K140fs 1.000 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 61 0 0 77 12 13.4831 KIDINS220 0 genome.wustl.edu 37 2 8926139 8926140 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 8926139 8926140 - T INS KIDINS220 ENST00000256707 human ensembl 74_37 -1 known frame_shift_ins c.1961_1960 p.T654fs 1.000:1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 96 0 0 109 18 14.1732 ZNF514 0 genome.wustl.edu 37 2 95815035 95815035 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 95815035 95815035 T - DEL ZNF514 ENST00000295208 human ensembl 74_37 -1 known frame_shift_del c.1195 p.T399fs 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF514 HGNC ENSG00000144026 154 0 0 175 27 13.3663 NCAPH 0 genome.wustl.edu 37 2 97025921 97025921 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 2 97025921 97025921 A - DEL NCAPH ENST00000240423 human ensembl 74_37 +1 known frame_shift_del c.1398 p.D469fs 0.914 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 58 0 0 67 12 15.1899 MACROD2 0 genome.wustl.edu 37 20 14830777 14830777 + RNA DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 14830777 14830777 G - DEL MACROD2 ENST00000497992 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MACROD2 HGNC ENSG00000172264 23 0 0 26 4 13.3333 RALGAPA2 0 genome.wustl.edu 37 20 20501722 20501723 + Frame_Shift_Ins INS - - CA TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 20501722 20501723 - CA INS RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known frame_shift_ins c.3923_3922 p.G1308fs 1.000:1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 163 0 0 169 22 11.5183 CD93 0 genome.wustl.edu 37 20 23065887 23065887 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 23065887 23065887 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.943 p.A315fs 0.011 pirsf_CD93/CD141,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 152 0 0 158 38 19.3878 HM13 0 genome.wustl.edu 37 20 30142485 30142485 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 30142485 30142485 A - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors HM13 HGNC ENSG00000101294 22 0 0 27 14 34.1463 PDRG1 0 genome.wustl.edu 37 20 30533657 30533657 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 30533657 30533657 G - DEL PDRG1 ENST00000202017 human ensembl 74_37 -1 known frame_shift_del c.355 p.L119fs 1.000 NULL pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 50 0 0 61 14 18.6667 RNF24 0 genome.wustl.edu 37 20 3914747 3914747 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 3914747 3914747 G - DEL RNF24 ENST00000432261 human ensembl 74_37 -1 known frame_shift_del c.473 p.P158fs 0.977 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF24 HGNC ENSG00000101236 223 0 0 270 36 11.7647 ZHX3 0 genome.wustl.edu 37 20 39832436 39832436 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 39832436 39832436 T - DEL ZHX3 ENST00000309060 human ensembl 74_37 -1 known frame_shift_del c.1121 p.K374fs 1.000 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 114 0 0 157 28 15.1351 WISP2 0 genome.wustl.edu 37 20 43348726 43348727 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 43348726 43348727 - C INS WISP2 ENST00000190983 human ensembl 74_37 +1 known frame_shift_ins c.249_250 p.G84fs 0.001:0.006 smart_IGFBP-like pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 14 0 0 27 3 10 ZNF335 0 genome.wustl.edu 37 20 44597039 44597039 + RNA DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 44597039 44597039 G - DEL ZNF335 ENST00000494955 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors ZNF335 HGNC ENSG00000198026 103 0 0 118 18 13.2353 SLC35C2 0 genome.wustl.edu 37 20 44987182 44987182 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 44987182 44987182 G - DEL SLC35C2 ENST00000543605 human ensembl 74_37 -1 known frame_shift_del c.51 p.A18fs 0.019 NULL pfam_Tpt_PEP_trans_dom,pfam_UAA - no_errors SLC35C2 HGNC ENSG00000080189 45 0 0 51 4 7.27273 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 49508204 49508204 T - DEL ADNP ENST00000349014 human ensembl 74_37 -1 known frame_shift_del c.3047 p.K1016fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 212 1 0.469484 222 38 14.6154 ZFP64 0 genome.wustl.edu 37 20 50705581 50705581 + RNA DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 50705581 50705581 C - DEL ZFP64 ENST00000477786 human ensembl 74_37 -1 known rna NULL NULL 0.015 - - - no_errors ZFP64 HGNC ENSG00000020256 65 0 0 67 13 16.25 PMEPA1 0 genome.wustl.edu 37 20 56227349 56227349 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 56227349 56227349 G - DEL PMEPA1 ENST00000341744 human ensembl 74_37 -1 known frame_shift_del c.624 p.S209fs 0.979 NULL NULL - no_errors PMEPA1 HGNC ENSG00000124225 72 0 0 67 14 17.284 SYCP2 0 genome.wustl.edu 37 20 58490593 58490593 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 58490593 58490593 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.526 p.M176fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 110 0 0 132 16 10.8108 ZGPAT 0 genome.wustl.edu 37 20 62365018 62365019 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 62365018 62365019 - C INS ZGPAT ENST00000328969 human ensembl 74_37 +1 known frame_shift_ins c.798_799 p.L268fs 0.982:1.000 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 245 0 0 304 44 12.6437 ZBTB46 0 genome.wustl.edu 37 20 62407045 62407046 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 20 62407045 62407046 - C INS ZBTB46 ENST00000245663 human ensembl 74_37 -1 known frame_shift_ins c.1208_1207 p.A403fs 0.769:0.756 NULL pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 84 0 0 163 35 17.6768 ANKRD20A11P 0 genome.wustl.edu 37 21 15311686 15311686 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 15311686 15311686 T - DEL ANKRD20A11P ENST00000428576 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 20 0 0 18 8 30.7692 ZBTB21 0 genome.wustl.edu 37 21 43411514 43411514 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 43411514 43411514 G - DEL ZBTB21 ENST00000310826 human ensembl 74_37 -1 known frame_shift_del c.2691 p.E899fs 0.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 136 0 0 167 28 14.359 TRPM2 0 genome.wustl.edu 37 21 45786736 45786736 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 21 45786736 45786736 G - DEL TRPM2 ENST00000300482 human ensembl 74_37 +1 known frame_shift_del c.523 p.A177fs 0.996 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 106 0 0 138 14 9.21053 HIC2 0 genome.wustl.edu 37 22 21799659 21799659 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 21799659 21799659 C - DEL HIC2 ENST00000407464 human ensembl 74_37 +1 known frame_shift_del c.475 p.R161fs 0.907 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 20 0 0 32 4 11.1111 HIC2 0 genome.wustl.edu 37 22 21799865 21799865 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 21799865 21799865 G - DEL HIC2 ENST00000407464 human ensembl 74_37 +1 known frame_shift_del c.681 p.G229fs 0.517 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 42 0 0 36 6 14.2857 SYN3 0 genome.wustl.edu 37 22 33402468 33402468 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 33402468 33402468 A - DEL SYN3 ENST00000332840 human ensembl 74_37 -1 known frame_shift_del c.180 p.F60fs 0.999 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN3 HGNC ENSG00000185666 168 0 0 206 41 16.5992 DMC1 0 genome.wustl.edu 37 22 38934340 38934340 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 38934340 38934340 T - DEL DMC1 ENST00000216024 human ensembl 74_37 -1 known frame_shift_del c.735 p.K245fs 0.999 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DMC1_rcmbase pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,pfam_Circ_KaiC/RadA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DMC1_rcmbase - no_errors DMC1 HGNC ENSG00000100206 68 0 0 103 21 16.9355 MIR1249 0 genome.wustl.edu 37 22 45596846 45596846 + RNA DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 45596846 45596846 G - DEL MIR1249 ENST00000408671 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR1249 HGNC ENSG00000221598 10 0 0 19 4 17.3913 PPP6R2 0 genome.wustl.edu 37 22 50879331 50879331 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 50879331 50879331 G - DEL PPP6R2 ENST00000216061 human ensembl 74_37 +1 known frame_shift_del c.2476 p.G827fs 0.986 NULL pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 110 0 0 182 21 10.3448 SBF1 0 genome.wustl.edu 37 22 50900780 50900782 + In_Frame_Del DEL CTC CTC - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 22 50900780 50900782 CTC - DEL SBF1 ENST00000380817 human ensembl 74_37 -1 known in_frame_del c.2250_2248 p.E750in_frame_del 1.000:1.000:1.000 pfam_SBF2 pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 97 0 0 128 28 17.9487 PCNP 0 genome.wustl.edu 37 3 101311692 101311692 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 101311692 101311692 T - DEL PCNP ENST00000486406 human ensembl 74_37 +1 known rna NULL NULL 0.864 - - - no_errors PCNP HGNC ENSG00000081154 28 0 0 42 6 12.5 MYH15 0 genome.wustl.edu 37 3 108172981 108172981 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 108172981 108172981 A - DEL MYH15 ENST00000273353 human ensembl 74_37 -1 known frame_shift_del c.2331 p.F777fs 0.927 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 142 0 0 139 21 13.125 CCDC37 0 genome.wustl.edu 37 3 126142182 126142183 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 126142182 126142183 - C INS CCDC37 ENST00000393425 human ensembl 74_37 +1 known frame_shift_ins c.1100_1101 p.T370fs 0.000:0.000 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 50 0 0 69 7 9.21053 SLC35G2 0 genome.wustl.edu 37 3 136573486 136573487 + Frame_Shift_Del DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 136573486 136573487 AA - DEL SLC35G2 ENST00000393079 human ensembl 74_37 +1 known frame_shift_del c.184_185 p.K64fs 1.000:1.000 NULL pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 203 0 0 268 53 16.5109 PLOD2 0 genome.wustl.edu 37 3 145828190 145828190 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 145828190 145828190 T - DEL PLOD2 ENST00000282903 human ensembl 74_37 -1 known frame_shift_del c.384 p.K128fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 120 0 0 136 26 16.0494 GYG1 0 genome.wustl.edu 37 3 148727089 148727089 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 148727089 148727089 T - DEL GYG1 ENST00000345003 human ensembl 74_37 +1 known frame_shift_del c.508 p.F171fs 0.999 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG1 HGNC ENSG00000163754 241 0 0 285 62 17.8674 AHSG 0 genome.wustl.edu 37 3 186338453 186338454 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 186338453 186338454 - C INS AHSG ENST00000411641 human ensembl 74_37 +1 known frame_shift_ins c.838_839 p.P282fs 0.000:0.002 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 313 1 0.318471 397 79 16.5966 FETUB 0 genome.wustl.edu 37 3 186362544 186362544 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 186362544 186362544 A - DEL FETUB ENST00000265029 human ensembl 74_37 +1 known frame_shift_del c.429 p.K146fs 0.854 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors FETUB HGNC ENSG00000090512 216 0 0 227 40 14.9813 CLDN1 0 genome.wustl.edu 37 3 190039795 190039796 + Frame_Shift_Del DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 190039795 190039796 AA - DEL CLDN1 ENST00000295522 human ensembl 74_37 -1 known frame_shift_del c.201_200 p.F67fs 1.000:1.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin14 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin1,prints_Claudin14 - no_errors CLDN1 HGNC ENSG00000163347 137 1 0.724638 192 33 14.6667 UTS2B 0 genome.wustl.edu 37 3 190999982 190999982 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 190999982 190999982 A - DEL UTS2B ENST00000463450 human ensembl 74_37 -1 known rna NULL NULL 0.384 - - - no_errors UTS2B HGNC ENSG00000188958 43 0 0 51 12 19.0476 UBXN7 0 genome.wustl.edu 37 3 196096324 196096324 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 196096324 196096324 A - DEL UBXN7 ENST00000296328 human ensembl 74_37 -1 known frame_shift_del c.674 p.F225fs 1.000 smart_UAS,pirsf_UCP037991_UAS/UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pirsf_UCP037991_UAS/UBX,pfscan_UBX - no_errors UBXN7 HGNC ENSG00000163960 136 0 0 145 26 15.2047 PIGZ 0 genome.wustl.edu 37 3 196674300 196674301 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 196674300 196674301 - C INS PIGZ ENST00000412723 human ensembl 74_37 -1 known frame_shift_ins c.1468_1467 p.T489fs 0.013:0.922 NULL pfam_GPI_mannosylTrfase - no_errors PIGZ HGNC ENSG00000119227 112 0 0 134 30 18.2927 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838275 + RNA DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 197838274 197838275 AA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 30 0 0 34 7 17.0732 HMGB1P5 0 genome.wustl.edu 37 3 22424080 22424081 + RNA INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 22424080 22424081 - T INS HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000:1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 22 0 0 33 5 13.1579 GLB1 0 genome.wustl.edu 37 3 33038565 33038565 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 33038565 33038565 T - DEL GLB1 ENST00000445488 human ensembl 74_37 -1 known frame_shift_del c.2150 p.N717fs 0.000 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 198 1 0.502513 210 29 12.1339 SCAP 0 genome.wustl.edu 37 3 47459204 47459204 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 47459204 47459204 G - DEL SCAP ENST00000265565 human ensembl 74_37 -1 known frame_shift_del c.2560 p.L854fs 0.921 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 22 0 0 34 15 30.6122 NCKIPSD 0 genome.wustl.edu 37 3 48718986 48718988 + In_Frame_Del DEL CTT CTT - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 48718986 48718988 CTT - DEL NCKIPSD ENST00000294129 human ensembl 74_37 -1 known in_frame_del c.826_824 p.E275in_frame_del 0.004:0.072:0.141 NULL pfam_DUF2013,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NCKIPSD HGNC ENSG00000213672 98 0 0 139 18 11.465 ENSG00000271976 0 genome.wustl.edu 37 3 53894043 53894043 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 53894043 53894043 A - DEL ENSG00000271976 ENST00000607783 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-884K10.7 Clone_based_vega_gene ENSG00000271976 32 0 0 46 12 20.6897 CCDC66 0 genome.wustl.edu 37 3 56651482 56651482 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 56651482 56651482 A - DEL CCDC66 ENST00000394672 human ensembl 74_37 +1 known frame_shift_del c.2186 p.V732fs 1.000 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 50 0 0 76 11 12.6437 COL8A1 0 genome.wustl.edu 37 3 99514534 99514534 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 3 99514534 99514534 C - DEL COL8A1 ENST00000261037 human ensembl 74_37 +1 known frame_shift_del c.1789 p.H599fs 0.314 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 87 0 0 104 19 15.4472 SEC24D 0 genome.wustl.edu 37 4 119674003 119674004 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 119674003 119674004 - A INS SEC24D ENST00000379735 human ensembl 74_37 -1 known frame_shift_ins c.1465_1464 p.I488fs 1.000:0.974 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 104 0 0 147 27 15.5172 USP53 0 genome.wustl.edu 37 4 120182871 120182871 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 120182871 120182871 T - DEL USP53 ENST00000274030 human ensembl 74_37 +1 known frame_shift_del c.824 p.Y277fs 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 75 0 0 67 17 20.2381 KIAA1109 0 genome.wustl.edu 37 4 123202735 123202735 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 123202735 123202735 A - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known frame_shift_del c.8843 p.T2950fs 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 99 0 0 116 22 15.942 PROM1 0 genome.wustl.edu 37 4 15995679 15995680 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 15995679 15995680 - T INS PROM1 ENST00000447510 human ensembl 74_37 -1 known frame_shift_ins c.1698_1697 p.N566fs 0.395:0.415 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 180 0 0 177 32 15.311 TACC3 0 genome.wustl.edu 37 4 1730307 1730308 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 1730307 1730308 - C INS TACC3 ENST00000313288 human ensembl 74_37 +1 known frame_shift_ins c.1178_1179 p.M396fs 0.001:0.000 NULL pfam_TACC - no_errors TACC3 HGNC ENSG00000013810 102 0 0 159 24 13.1148 SORBS2 0 genome.wustl.edu 37 4 186578685 186578685 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 186578685 186578685 G - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.160 p.L54fs 0.996 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 89 0 0 95 22 18.8034 NOP14 0 genome.wustl.edu 37 4 2958520 2958520 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 2958520 2958520 T - DEL NOP14 ENST00000416614 human ensembl 74_37 -1 known frame_shift_del c.349 p.S117fs 1.000 pfam_Nop14 pfam_Nop14 - no_errors NOP14 HGNC ENSG00000087269 81 0 0 91 9 9 RGS12 0 genome.wustl.edu 37 4 3418813 3418813 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 3418813 3418813 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.2601 p.K869fs 0.018 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 42 0 0 80 11 12.0879 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 3430399 3430399 A - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3526 p.K1178fs 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 107 0 0 113 34 23.1293 RGS12 0 genome.wustl.edu 37 4 3432431 3432431 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 3432431 3432431 C - DEL RGS12 ENST00000344733 human ensembl 74_37 +1 known frame_shift_del c.3863 p.1292fs 0.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 20 0 0 31 2 6.06061 APBB2 0 genome.wustl.edu 37 4 41015658 41015660 + In_Frame_Del DEL CTC CTC - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 41015658 41015660 CTC - DEL APBB2 ENST00000295974 human ensembl 74_37 -1 known in_frame_del c.777_775 p.E259in_frame_del 1.000:1.000:1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB2 HGNC ENSG00000163697 507 1 0.19685 531 107 16.7712 AASDH 0 genome.wustl.edu 37 4 57220269 57220270 + Frame_Shift_Del DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 57220269 57220270 AA - DEL AASDH ENST00000205214 human ensembl 74_37 -1 known frame_shift_del c.1319_1318 p.L440fs 1.000:0.990 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 132 0 0 124 38 23.4568 CENPC 0 genome.wustl.edu 37 4 68384936 68384936 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 68384936 68384936 T - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.616 p.R206fs 1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 59 0 0 69 15 17.8571 ENAM 0 genome.wustl.edu 37 4 71503554 71503555 + Frame_Shift_Ins INS - - G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 71503554 71503555 - G INS ENAM ENST00000396073 human ensembl 74_37 +1 known frame_shift_ins c.582_583 p.N196fs 0.996:0.994 NULL NULL - no_errors ENAM HGNC ENSG00000132464 177 1 0.561798 166 16 8.79121 ARHGAP24 0 genome.wustl.edu 37 4 86916593 86916593 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 86916593 86916593 C - DEL ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known frame_shift_del c.1786 p.P597fs 0.976 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 112 0 0 161 24 12.973 GRID2 0 genome.wustl.edu 37 4 93225753 93225754 + RNA DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 93225753 93225754 AA - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GRID2 HGNC ENSG00000152208 35 0 0 32 10 23.8095 SMARCAD1 0 genome.wustl.edu 37 4 95173910 95173910 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 4 95173910 95173910 A - DEL SMARCAD1 ENST00000359052 human ensembl 74_37 +1 known frame_shift_del c.1033 p.N347fs 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAD1 HGNC ENSG00000163104 52 0 0 66 11 14.2857 PAM 0 genome.wustl.edu 37 5 102338844 102338845 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 102338844 102338845 - A INS PAM ENST00000304400 human ensembl 74_37 +1 known frame_shift_ins c.1721_1722 p.N576fs 1.000:0.180 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 64 0 0 64 7 9.85915 ZNF608 0 genome.wustl.edu 37 5 123980122 123980122 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 123980122 123980122 T - DEL ZNF608 ENST00000306315 human ensembl 74_37 -1 known frame_shift_del c.3938 p.N1313fs 0.806 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 410 0 0 494 95 16.129 FNIP1 0 genome.wustl.edu 37 5 131039814 131039814 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 131039814 131039814 A - DEL FNIP1 ENST00000510461 human ensembl 74_37 -1 known frame_shift_del c.1060 p.S354fs 1.000 NULL NULL - no_errors FNIP1 HGNC ENSG00000217128 82 0 0 112 18 13.8462 WDR55 0 genome.wustl.edu 37 5 140049102 140049102 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 140049102 140049102 A - DEL WDR55 ENST00000358337 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 1.000 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 35 0 0 72 13 15.2941 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 200 1 0.497512 193 35 15.3509 ENSG00000253798 0 genome.wustl.edu 37 5 157116986 157116986 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 157116986 157116986 T - DEL ENSG00000253798 ENST00000522076 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC008694.3 Clone_based_vega_gene ENSG00000253798 146 0 0 167 34 16.9154 GABRB2 0 genome.wustl.edu 37 5 160753482 160753482 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 160753482 160753482 A - DEL GABRB2 ENST00000274547 human ensembl 74_37 -1 known frame_shift_del c.1084 p.Y362fs 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel - no_errors GABRB2 HGNC ENSG00000145864 81 0 0 78 17 17.8947 CDHR2 0 genome.wustl.edu 37 5 176017671 176017672 + Frame_Shift_Ins INS - - GT TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 176017671 176017672 - GT INS CDHR2 ENST00000261944 human ensembl 74_37 +1 known frame_shift_ins c.3522_3523 p.R1177fs 0.000:0.003 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 164 0 0 202 36 15.1261 RICTOR 0 genome.wustl.edu 37 5 38959432 38959432 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 38959432 38959432 A - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RICTOR HGNC ENSG00000164327 34 0 0 18 5 21.7391 DHX29 0 genome.wustl.edu 37 5 54589966 54589966 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 54589966 54589966 T - DEL DHX29 ENST00000251636 human ensembl 74_37 -1 known frame_shift_del c.659 p.K220fs 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC ENSG00000067248 52 0 0 60 12 16.6667 PLK2 0 genome.wustl.edu 37 5 57753011 57753012 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 57753011 57753012 - A INS PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_ins c.1005_1004 p.L335fs 1.000:1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 60 0 0 83 16 16.1616 SREK1 0 genome.wustl.edu 37 5 65449437 65449438 + RNA INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 65449437 65449438 - T INS SREK1 ENST00000523851 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.932 - - - no_errors SREK1 HGNC ENSG00000153914 470 0 0 499 70 12.3023 ATP6AP1L 0 genome.wustl.edu 37 5 81605853 81605853 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 81605853 81605853 A - DEL ATP6AP1L ENST00000508366 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP6AP1L HGNC ENSG00000205464 15 0 0 26 8 23.5294 GPR98 0 genome.wustl.edu 37 5 90124781 90124781 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 5 90124781 90124781 T - DEL GPR98 ENST00000405460 human ensembl 74_37 +1 known frame_shift_del c.16389 p.F5465fs 0.351 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 68 0 0 81 17 17.3469 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 173 1 0.574713 237 27 10.2273 AIM1 0 genome.wustl.edu 37 6 106968459 106968461 + In_Frame_Del DEL AAG AAG - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 106968459 106968461 AAG - DEL AIM1 ENST00000369066 human ensembl 74_37 +1 known in_frame_del c.2152_2154 p.K719in_frame_del 1.000:1.000:0.999 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 142 0 0 161 26 13.9037 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756864 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 10756864 10756864 A - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM14B HGNC ENSG00000137210 15 0 0 20 7 25.9259 SLC22A16 0 genome.wustl.edu 37 6 110763711 110763711 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 110763711 110763711 T - DEL SLC22A16 ENST00000368919 human ensembl 74_37 -1 known frame_shift_del c.919 p.I307fs 0.054 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 158 0 0 189 38 16.7401 LAMA4 0 genome.wustl.edu 37 6 112450166 112450166 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 112450166 112450166 T - DEL LAMA4 ENST00000230538 human ensembl 74_37 -1 known frame_shift_del c.4245 p.G1416fs 0.993 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 104 0 0 114 25 17.9856 MED23 0 genome.wustl.edu 37 6 131917389 131917389 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 131917389 131917389 T - DEL MED23 ENST00000479213 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED23 HGNC ENSG00000112282 25 0 0 23 7 23.3333 PHACTR1 0 genome.wustl.edu 37 6 13206135 13206135 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 13206135 13206135 G - DEL PHACTR1 ENST00000379350 human ensembl 74_37 +1 known frame_shift_del c.753 p.P254fs 0.087 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 112 0 0 155 13 7.7381 UTRN 0 genome.wustl.edu 37 6 144759980 144759980 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 144759980 144759980 C - DEL UTRN ENST00000367545 human ensembl 74_37 +1 known frame_shift_del c.1341 p.L449fs 0.009 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 71 0 0 98 19 16.2393 UST 0 genome.wustl.edu 37 6 149395142 149395142 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 149395142 149395142 C - DEL UST ENST00000367463 human ensembl 74_37 +1 known frame_shift_del c.1111 p.L373fs 0.580 NULL pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 105 0 0 129 26 16.7742 ARID1B 0 genome.wustl.edu 37 6 157528284 157528284 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 157528284 157528284 G - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_del c.6129 p.V2045fs 0.999 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 127 0 0 163 28 14.6597 SMOC2 0 genome.wustl.edu 37 6 169051445 169051447 + In_Frame_Del DEL CCT CCT - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 169051445 169051447 CCT - DEL SMOC2 ENST00000354536 human ensembl 74_37 +1 known in_frame_del c.1025_1027 p.S346in_frame_del 1.000:0.932:0.940 pfam_SPARC/Testican_Ca-bd-dom pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_EF_hand_dom,pfscan_Thyroglobulin_1 - no_errors SMOC2 HGNC ENSG00000112562 34 0 0 45 4 8.16327 PGBD1 0 genome.wustl.edu 37 6 28269913 28269913 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 28269913 28269913 T - DEL PGBD1 ENST00000259883 human ensembl 74_37 +1 known frame_shift_del c.2282 p.L762fs 0.227 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 79 0 0 100 18 15.2542 OR2J2 0 genome.wustl.edu 37 6 29142310 29142310 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 29142310 29142310 G - DEL OR2J2 ENST00000377167 human ensembl 74_37 +1 known frame_shift_del c.898 p.A301fs 0.207 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 135 0 0 149 25 14.3678 HLA-A 0 genome.wustl.edu 37 6 29911900 29911900 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 29911900 29911900 C - DEL HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_del c.621 p.K210fs 0.000 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 249 1 0.4 312 49 13.5734 DDX39B 0 genome.wustl.edu 37 6 31504446 31504446 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 31504446 31504446 A - DEL DDX39B ENST00000417556 human ensembl 74_37 -1 known frame_shift_del c.492 p.F164fs 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39B HGNC ENSG00000198563 76 0 0 80 11 12.0879 BAG6 0 genome.wustl.edu 37 6 31606863 31606863 + RNA DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 31606863 31606863 G - DEL BAG6 ENST00000464126 human ensembl 74_37 -1 putative rna NULL NULL 0.010 - - - no_errors BAG6 HGNC ENSG00000204463 35 0 0 27 6 18.1818 SKIV2L 0 genome.wustl.edu 37 6 31934881 31934881 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 31934881 31934881 G - DEL SKIV2L ENST00000375394 human ensembl 74_37 +1 known frame_shift_del c.2441 p.E816fs 1.000 pirsf_RNA_helicase_ATP-dep_SK12/DOB1 pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC ENSG00000204351 188 0 0 197 28 12.4444 DXO 0 genome.wustl.edu 37 6 31939231 31939231 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 31939231 31939231 G - DEL DXO ENST00000337523 human ensembl 74_37 -1 known frame_shift_del c.222 p.T75fs 0.007 NULL pfam_RAI1 - no_errors DXO HGNC ENSG00000204348 104 0 0 128 29 18.4713 RING1 0 genome.wustl.edu 37 6 33178990 33178990 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 33178990 33178990 G - DEL RING1 ENST00000374656 human ensembl 74_37 +1 known frame_shift_del c.511 p.E173fs 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RING1 HGNC ENSG00000204227 380 0 0 398 43 9.75057 KCNK17 0 genome.wustl.edu 37 6 39272281 39272281 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 39272281 39272281 C - DEL KCNK17 ENST00000373231 human ensembl 74_37 -1 known frame_shift_del c.503 p.G168fs 0.001 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK17 HGNC ENSG00000124780 161 0 0 189 26 12.093 BYSL 0 genome.wustl.edu 37 6 41889330 41889330 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 41889330 41889330 G - DEL BYSL ENST00000230340 human ensembl 74_37 +1 known frame_shift_del c.30 p.G12fs 0.110 NULL pfam_Bystin - no_errors BYSL HGNC ENSG00000112578 46 0 0 75 11 12.7907 BMP5 0 genome.wustl.edu 37 6 55625309 55625309 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 55625309 55625309 T - DEL BMP5 ENST00000370830 human ensembl 74_37 -1 known frame_shift_del c.1050 p.K350fs 1.000 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC ENSG00000112175 99 0 0 124 21 14.4828 MYO6 0 genome.wustl.edu 37 6 76599858 76599858 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 76599858 76599858 A - DEL MYO6 ENST00000369981 human ensembl 74_37 +1 known frame_shift_del c.2743 p.K917fs 1.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 126 0 0 125 25 16.6667 TTK 0 genome.wustl.edu 37 6 80751910 80751910 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 80751910 80751910 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2565 p.K857fs 0.011 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 57 0 0 62 11 15.0685 IBTK 0 genome.wustl.edu 37 6 82891683 82891683 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 82891683 82891683 T - DEL IBTK ENST00000306270 human ensembl 74_37 -1 known frame_shift_del c.3638 p.K1213fs 0.998 NULL pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors IBTK HGNC ENSG00000005700 66 0 0 76 14 15.5556 SNX14 0 genome.wustl.edu 37 6 86275079 86275080 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 86275079 86275080 - A INS SNX14 ENST00000314673 human ensembl 74_37 -1 known frame_shift_ins c.520_519 p.A173fs 1.000:1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX14 HGNC ENSG00000135317 9 0 0 8 2 20 PNISR 0 genome.wustl.edu 37 6 99849343 99849343 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 6 99849343 99849343 T - DEL PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_del c.1491 p.E498fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 123 0 0 97 19 16.3793 SRRT 0 genome.wustl.edu 37 7 100479332 100479332 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 100479332 100479332 G - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.304 p.G104fs 1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 85 0 0 139 20 12.5786 AP1S1 0 genome.wustl.edu 37 7 100802405 100802405 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 100802405 100802405 G - DEL AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_del c.357 p.D122fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 42 0 0 79 9 10.2273 NAPEPLD 0 genome.wustl.edu 37 7 102769241 102769242 + Splice_Site INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 102769241 102769242 - A INS NAPEPLD ENST00000455523 human ensembl 74_37 -1 known splice_site_ins c.204-3_204-2 e2-2 0.970:0.084 - - - no_errors NAPEPLD HGNC ENSG00000161048 105 0 0 146 13 8.1761 CFTR 0 genome.wustl.edu 37 7 117304765 117304766 + Frame_Shift_Del DEL AC AC - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 117304765 117304766 AC - DEL CFTR ENST00000003084 human ensembl 74_37 +1 known frame_shift_del c.3987_3988 p.Q1330fs 1.000:1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 166 0 0 234 36 13.3333 ZNF800 0 genome.wustl.edu 37 7 127013702 127013702 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 127013702 127013702 T - DEL ZNF800 ENST00000265827 human ensembl 74_37 -1 known frame_shift_del c.1688 p.K563fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 141 0 0 172 26 13.1313 SND1 0 genome.wustl.edu 37 7 127724851 127724851 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 127724851 127724851 C - DEL SND1 ENST00000354725 human ensembl 74_37 +1 known frame_shift_del c.2186 p.R731fs 0.661 pfam_Tudor,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 62 0 0 84 19 18.4466 MKLN1 0 genome.wustl.edu 37 7 131148074 131148075 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 131148074 131148075 - A INS MKLN1 ENST00000352689 human ensembl 74_37 +1 known frame_shift_ins c.1624_1625 p.N543fs 1.000:1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC ENSG00000128585 165 0 0 228 26 10.2362 PODXL 0 genome.wustl.edu 37 7 131191478 131191478 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 131191478 131191478 C - DEL PODXL ENST00000541194 human ensembl 74_37 -1 known frame_shift_del c.1115 p.G372fs 0.000 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 pfam_CD34/Podocalyxin,pirsf_Podocalyxin-like_p1 - no_errors PODXL HGNC ENSG00000128567 192 0 0 251 21 7.72059 OR9A1P 0 genome.wustl.edu 37 7 141587396 141587396 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 141587396 141587396 T - DEL OR9A1P ENST00000482201 human ensembl 74_37 +1 known rna NULL NULL 0.121 - - - no_errors OR9A1P HGNC ENSG00000237621 28 0 0 52 7 11.8644 NOBOX 0 genome.wustl.edu 37 7 144098496 144098496 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 144098496 144098496 G - DEL NOBOX ENST00000467773 human ensembl 74_37 -1 known frame_shift_del c.487 p.R163fs 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors NOBOX HGNC ENSG00000106410 46 0 0 63 15 19.2308 CNTNAP2 0 genome.wustl.edu 37 7 146471423 146471423 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 146471423 146471423 C - DEL CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known frame_shift_del c.158 p.I54fs 0.054 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 76 0 0 120 9 6.97674 ABCB8 0 genome.wustl.edu 37 7 150742383 150742384 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 150742383 150742384 - C INS ABCB8 ENST00000297504 human ensembl 74_37 +1 known frame_shift_ins c.2155_2156 p.P721fs 0.000:0.001 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB8 HGNC ENSG00000197150 38 0 0 95 6 5.94059 RNF32 0 genome.wustl.edu 37 7 156436577 156436577 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 156436577 156436577 A - DEL RNF32 ENST00000317955 human ensembl 74_37 +1 known frame_shift_del c.6 p.N4fs 0.980 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 156 0 0 185 30 13.9535 SDK1 0 genome.wustl.edu 37 7 4285309 4285310 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 4285309 4285310 - C INS SDK1 ENST00000404826 human ensembl 74_37 +1 known frame_shift_ins c.6253_6254 p.P2087fs 1.000:1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 80 0 0 128 7 5.18519 C7orf57 0 genome.wustl.edu 37 7 48092305 48092305 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 48092305 48092305 A - DEL C7orf57 ENST00000348904 human ensembl 74_37 +1 known frame_shift_del c.614 p.N207fs 0.977 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 103 0 0 185 18 8.867 COBL 0 genome.wustl.edu 37 7 51096436 51096437 + Frame_Shift_Del DEL CT CT - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 51096436 51096437 CT - DEL COBL ENST00000395542 human ensembl 74_37 -1 known frame_shift_del c.2603_2602 p.S868fs 0.000:0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 71 0 0 137 30 17.9641 EIF2AK1 0 genome.wustl.edu 37 7 6085740 6085740 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 6085740 6085740 T - DEL EIF2AK1 ENST00000199389 human ensembl 74_37 -1 known frame_shift_del c.592 p.I198fs 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK1 HGNC ENSG00000086232 22 0 0 53 5 8.62069 CACNA2D1 0 genome.wustl.edu 37 7 81667519 81667519 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 81667519 81667519 A - DEL CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known frame_shift_del c.912 p.Q305fs 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 175 0 0 219 13 5.60345 SEMA3D 0 genome.wustl.edu 37 7 84636220 84636220 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 84636220 84636220 A - DEL SEMA3D ENST00000284136 human ensembl 74_37 -1 known frame_shift_del c.1806 p.F602fs 1.000 smart_Ig_sub pfam_Semap_dom,pfam_Ig_V-set,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 SEMA3D HGNC ENSG00000153993 211 1 0.471698 247 38 13.3333 ABCB1 0 genome.wustl.edu 37 7 87178807 87178808 + Frame_Shift_Del DEL CT CT - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 87178807 87178808 CT - DEL ABCB1 ENST00000265724 human ensembl 74_37 -1 known frame_shift_del c.1582_1581 p.A529fs 1.000:1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 160 0 0 235 21 8.20312 AKAP9 0 genome.wustl.edu 37 7 91603085 91603085 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 91603085 91603085 A - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.145 p.K51fs 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 70 0 0 87 12 12.1212 LAMTOR4 0 genome.wustl.edu 37 7 99751181 99751181 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 99751181 99751181 G - DEL LAMTOR4 ENST00000441173 human ensembl 74_37 +1 putative frame_shift_del c.243 p.G83fs 0.000 NULL NULL - no_errors LAMTOR4 HGNC ENSG00000188186 129 0 0 162 11 6.35838 STAG3L5P-PVRIG2P-PILRB 0 genome.wustl.edu 37 7 99943553 99943553 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 7 99943553 99943553 T - DEL STAG3L5P-PVRIG2P-PILRB ENST00000310771 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors STAG3L5P-PVRIG2P-PILRB HGNC ENSG00000272752 20 0 0 11 5 31.25 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 228 2 0.869565 251 76 23.2416 FZD6 0 genome.wustl.edu 37 8 104342161 104342161 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 104342161 104342161 C - DEL FZD6 ENST00000358755 human ensembl 74_37 +1 known frame_shift_del c.1820 p.R609fs 0.019 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC ENSG00000164930 60 0 0 80 24 23.0769 SOX7 0 genome.wustl.edu 37 8 10583952 10583952 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 10583952 10583952 C - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.619 p.A207fs 0.588 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 35 0 0 59 14 19.1781 MTBP 0 genome.wustl.edu 37 8 121514827 121514828 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 121514827 121514828 - A INS MTBP ENST00000305949 human ensembl 74_37 +1 known frame_shift_ins c.1705_1706 p.T571fs 1.000:1.000 NULL NULL - no_errors MTBP HGNC ENSG00000172167 38 0 0 55 13 19.1176 SLC45A4 0 genome.wustl.edu 37 8 142222546 142222546 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 142222546 142222546 C - DEL SLC45A4 ENST00000517878 human ensembl 74_37 -1 known frame_shift_del c.2051 p.G684fs 0.080 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 132 0 0 194 35 15.2838 EPPK1 0 genome.wustl.edu 37 8 144941378 144941378 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 144941378 144941378 C - DEL EPPK1 ENST00000525985 human ensembl 74_37 -1 known frame_shift_del c.6044 p.G2015fs 0.996 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 35 0 0 69 8 10.3896 RECQL4 0 genome.wustl.edu 37 8 145738055 145738055 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 145738055 145738055 C - DEL RECQL4 ENST00000428558 human ensembl 74_37 -1 known frame_shift_del c.2855 p.G952fs 1.000 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 90 0 0 108 20 15.625 LRRC14 0 genome.wustl.edu 37 8 145749468 145749469 + RNA DEL AG AG - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 145749468 145749469 AG - DEL LRRC14 ENST00000528528 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors LRRC14 HGNC ENSG00000160959 337 1 0.295858 533 67 11.1667 TEX15 0 genome.wustl.edu 37 8 30703516 30703516 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 30703516 30703516 T - DEL TEX15 ENST00000256246 human ensembl 74_37 -1 known frame_shift_del c.3018 p.A1007fs 1.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 324 1 0.307692 436 78 15.1751 WHSC1L1 0 genome.wustl.edu 37 8 38146944 38146945 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 38146944 38146945 - T INS WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known frame_shift_ins c.3198_3197 p.N1066fs 0.996:0.997 NULL pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 323 0 0 497 63 11.25 ST18 0 genome.wustl.edu 37 8 53071553 53071553 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 53071553 53071553 G - DEL ST18 ENST00000276480 human ensembl 74_37 -1 known frame_shift_del c.1711 p.H571fs 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 202 0 0 302 31 9.30931 RP1 0 genome.wustl.edu 37 8 55540279 55540279 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 55540279 55540279 T - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.3837 p.P1282fs 0.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 368 0 0 484 76 13.5714 ERICH1 0 genome.wustl.edu 37 8 623865 623865 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 623865 623865 T - DEL ERICH1 ENST00000262109 human ensembl 74_37 -1 known frame_shift_del c.487 p.R163fs 0.988 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 179 0 0 290 49 14.4543 MYBL1 0 genome.wustl.edu 37 8 67488453 67488453 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 67488453 67488453 T - DEL MYBL1 ENST00000522677 human ensembl 74_37 -1 known frame_shift_del c.1259 p.N420fs 0.992 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 279 0 0 377 66 14.8984 SULF1 0 genome.wustl.edu 37 8 70488249 70488249 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 70488249 70488249 G - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.217 p.A75fs 0.999 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 57 0 0 96 14 12.7273 ZFHX4 0 genome.wustl.edu 37 8 77763477 77763477 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 77763477 77763477 A - DEL ZFHX4 ENST00000521891 human ensembl 74_37 +1 known frame_shift_del c.4320 p.K1442fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 28 0 0 64 8 11.1111 TMEM67 0 genome.wustl.edu 37 8 94828723 94828723 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 94828723 94828723 A - DEL TMEM67 ENST00000463467 human ensembl 74_37 +1 putative rna NULL NULL 0.614 - - - no_errors TMEM67 HGNC ENSG00000164953 23 0 0 38 8 17.3913 INTS8 0 genome.wustl.edu 37 8 95848830 95848830 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 95848830 95848830 T - DEL INTS8 ENST00000523731 human ensembl 74_37 +1 known frame_shift_del c.832 p.F279fs 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 112 0 0 192 27 12.3288 TSPYL5 0 genome.wustl.edu 37 8 98289663 98289664 + Frame_Shift_Ins INS - - G TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 98289663 98289664 - G INS TSPYL5 ENST00000322128 human ensembl 74_37 -1 known frame_shift_ins c.410_409 p.R137fs 0.730:0.768 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 93 0 0 174 18 9.375 POP1 0 genome.wustl.edu 37 8 99148887 99148887 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 8 99148887 99148887 A - DEL POP1 ENST00000349693 human ensembl 74_37 +1 known frame_shift_del c.1189 p.I399fs 0.996 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 82 0 0 137 14 9.27152 XPA 0 genome.wustl.edu 37 9 100437634 100437634 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 100437634 100437634 T - DEL XPA ENST00000485042 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XPA HGNC ENSG00000136936 12 0 0 11 9 45 FKTN 0 genome.wustl.edu 37 9 108382331 108382331 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 108382331 108382331 A - DEL FKTN ENST00000223528 human ensembl 74_37 +1 known frame_shift_del c.1161 p.K389fs 1.000 pfam_LicD pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC ENSG00000106692 54 0 0 60 8 11.7647 PTPN3 0 genome.wustl.edu 37 9 112145799 112145799 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 112145799 112145799 G - DEL PTPN3 ENST00000374541 human ensembl 74_37 -1 known frame_shift_del c.2286 p.D763fs 0.022 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 160 0 0 179 11 5.78947 MIR4668 0 genome.wustl.edu 37 9 114694384 114694385 + RNA DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 114694384 114694385 AA - DEL MIR4668 ENST00000582284 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors MIR4668 HGNC ENSG00000266315 60 0 0 71 17 19.3182 SUSD1 0 genome.wustl.edu 37 9 114825285 114825285 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 114825285 114825285 A - DEL SUSD1 ENST00000374264 human ensembl 74_37 -1 known frame_shift_del c.1782 p.F594fs 0.179 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 186 1 0.534759 216 40 15.625 CDK5RAP2 0 genome.wustl.edu 37 9 123290085 123290085 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 123290085 123290085 T - DEL CDK5RAP2 ENST00000349780 human ensembl 74_37 -1 known frame_shift_del c.998 p.K333fs 1.000 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC ENSG00000136861 121 0 0 110 24 17.9104 OR1L3 0 genome.wustl.edu 37 9 125437936 125437936 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 125437936 125437936 T - DEL OR1L3 ENST00000304820 human ensembl 74_37 +1 known frame_shift_del c.528 p.C179fs 0.947 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1L3 HGNC ENSG00000171481 416 2 0.478469 412 72 14.876 RABGAP1 0 genome.wustl.edu 37 9 125827753 125827754 + Frame_Shift_Del DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 125827753 125827754 AA - DEL RABGAP1 ENST00000456584 human ensembl 74_37 +1 known frame_shift_del c.1717_1718 p.K576fs 0.000:0.000 pfscan_Rab-GTPase-TBC_dom pfam_Kinesin-like,pfam_Rab-GTPase-TBC_dom,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1 HGNC ENSG00000011454 55 0 0 83 20 19.4175 ENSG00000234921 0 genome.wustl.edu 37 9 126794643 126794643 + RNA DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 126794643 126794643 G - DEL ENSG00000234921 ENST00000429482 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-85O21.5 Clone_based_vega_gene ENSG00000234921 72 0 0 96 10 9.43396 GTF3C4 0 genome.wustl.edu 37 9 135554691 135554691 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 135554691 135554691 A - DEL GTF3C4 ENST00000372146 human ensembl 74_37 +1 known frame_shift_del c.1685 p.K564fs 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 235 0 0 259 40 13.3779 LINC00094 0 genome.wustl.edu 37 9 136899776 136899776 + RNA DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 136899776 136899776 C - DEL LINC00094 ENST00000605164 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00094 HGNC ENSG00000235106 71 0 0 75 17 18.4783 RXRA 0 genome.wustl.edu 37 9 137300039 137300040 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 137300039 137300040 - C INS RXRA ENST00000481739 human ensembl 74_37 +1 known frame_shift_ins c.324_325 p.L110fs 1.000:1.000 pfam_Nuc_recep-AF1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt - no_errors RXRA HGNC ENSG00000186350 66 0 0 74 9 10.8434 COL5A1 0 genome.wustl.edu 37 9 137630637 137630637 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 137630637 137630637 G - DEL COL5A1 ENST00000371817 human ensembl 74_37 +1 known frame_shift_del c.1477 p.D494fs 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 190 0 0 194 16 7.61905 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 15472612 15472613 AA - DEL PSIP1 ENST00000495873 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors PSIP1 HGNC ENSG00000164985 112 0 0 107 21 16.4062 PLIN2 0 genome.wustl.edu 37 9 19119813 19119813 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 19119813 19119813 T - DEL PLIN2 ENST00000276914 human ensembl 74_37 -1 known frame_shift_del c.612 p.V205fs 0.130 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN2 HGNC ENSG00000147872 227 0 0 264 32 10.8108 IFNA16 0 genome.wustl.edu 37 9 21216773 21216773 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 21216773 21216773 A - DEL IFNA16 ENST00000380216 human ensembl 74_37 -1 known frame_shift_del c.532 p.S178fs 0.001 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA16 HGNC ENSG00000147885 473 1 0.21097 488 106 17.8451 RFX3 0 genome.wustl.edu 37 9 3248099 3248100 + Frame_Shift_Del DEL AT AT - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 3248099 3248100 AT - DEL RFX3 ENST00000382004 human ensembl 74_37 -1 known frame_shift_del c.1901_1900 p.M634fs 1.000:1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 119 0 0 134 23 14.6497 VPS13A 0 genome.wustl.edu 37 9 79897181 79897181 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 79897181 79897181 A - DEL VPS13A ENST00000360280 human ensembl 74_37 +1 known frame_shift_del c.3109 p.K1038fs 0.998 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 56 0 0 61 9 12.8571 VPS13A 0 genome.wustl.edu 37 9 79999547 79999548 + In_Frame_Ins INS - - TGA TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 79999547 79999548 - TGA INS VPS13A ENST00000357409 human ensembl 74_37 +1 known in_frame_ins c.9236_9237 p.3083in_frame_insD 1.000:0.999 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 81 0 0 87 19 17.9245 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 15 0 0 24 3 11.1111 NXF4 0 genome.wustl.edu 37 X 101818283 101818284 + RNA INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 101818283 101818284 - T INS NXF4 ENST00000360035 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors NXF4 HGNC ENSG00000196970 104 0 0 142 13 8.3871 RAB40AL 0 genome.wustl.edu 37 X 102192592 102192593 + Frame_Shift_Ins INS - - C TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 102192592 102192593 - C INS RAB40AL ENST00000218249 human ensembl 74_37 +1 known frame_shift_ins c.346_347 p.G118fs 1.000:1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40AL HGNC ENSG00000102128 255 0 0 354 23 6.1008 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 89 0 0 79 18 18.5567 SLC6A14 0 genome.wustl.edu 37 X 115569030 115569030 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 115569030 115569030 A - DEL SLC6A14 ENST00000371900 human ensembl 74_37 +1 known frame_shift_del c.121 p.K42fs 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A14 HGNC ENSG00000087916 260 1 0.383142 300 53 15.0142 STAG2 0 genome.wustl.edu 37 X 123164817 123164817 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 123164817 123164817 A - DEL STAG2 ENST00000218089 human ensembl 74_37 +1 known frame_shift_del c.130 p.G46fs 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 99 0 0 120 23 16.0839 ARHGAP36 0 genome.wustl.edu 37 X 130215725 130215725 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 130215725 130215725 T - DEL ARHGAP36 ENST00000276211 human ensembl 74_37 +1 known frame_shift_del c.86 p.L31fs 0.957 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP36 HGNC ENSG00000147256 390 0 0 437 84 16.1228 USP26 0 genome.wustl.edu 37 X 132160413 132160413 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 132160413 132160413 T - DEL USP26 ENST00000370832 human ensembl 74_37 -1 known frame_shift_del c.1836 p.G613fs 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 120 0 0 159 29 15.4255 DDX26B 0 genome.wustl.edu 37 X 134681154 134681155 + Frame_Shift_Ins INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 134681154 134681155 - A INS DDX26B ENST00000370752 human ensembl 74_37 +1 known frame_shift_ins c.706_707 p.T238fs 1.000:1.000 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 340 0 0 375 63 14.3836 RNA5SP498 0 genome.wustl.edu 37 X 1419259 1419259 + RNA DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 1419259 1419259 A - DEL RNA5SP498 ENST00000411342 human ensembl 74_37 -1 known rna NULL NULL 0.229 - - - no_errors RNA5SP498 HGNC ENSG00000223274 24 0 0 32 7 17.9487 GABRE 0 genome.wustl.edu 37 X 151130987 151130987 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 151130987 151130987 A - DEL GABRE ENST00000370328 human ensembl 74_37 -1 known frame_shift_del c.471 p.F157fs 0.989 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 130 0 0 144 34 19.1011 L1CAM 0 genome.wustl.edu 37 X 153132296 153132296 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 153132296 153132296 G - DEL L1CAM ENST00000543994 human ensembl 74_37 -1 known frame_shift_del c.2245 p.Q749fs 0.247 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 77 0 0 108 24 18.1818 FLNA 0 genome.wustl.edu 37 X 153590824 153590824 + Frame_Shift_Del DEL C C - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 153590824 153590824 C - DEL FLNA ENST00000369850 human ensembl 74_37 -1 known frame_shift_del c.2527 p.A843fs 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 178 0 0 236 52 18.0556 DKC1 0 genome.wustl.edu 37 X 153994770 153994771 + RNA INS - - A TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 153994770 153994771 - A INS DKC1 ENST00000473552 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors DKC1 HGNC ENSG00000130826 15 0 0 8 2 20 MXRA5 0 genome.wustl.edu 37 X 3235581 3235581 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 3235581 3235581 G - DEL MXRA5 ENST00000217939 human ensembl 74_37 -1 known frame_shift_del c.6141 p.V2048fs 0.381 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 31 0 0 42 8 16 USP9X 0 genome.wustl.edu 37 X 41055854 41055855 + Frame_Shift_Del DEL AG AG - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 41055854 41055855 AG - DEL USP9X ENST00000324545 human ensembl 74_37 +1 known frame_shift_del c.4096_4097 p.R1368fs 0.999:1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 130 0 0 163 19 10.4396 RBM10 0 genome.wustl.edu 37 X 47045497 47045501 + Frame_Shift_Del DEL AGAGA AGAGA - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 AGAGA AGAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 47045497 47045501 AGAGA - DEL RBM10 ENST00000377604 human ensembl 74_37 +1 known frame_shift_del c.2464_2468 p.R822fs 1.000:1.000:0.992:1.000:1.000 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM10 HGNC ENSG00000182872 97 0 0 109 13 10.6557 ELK1 0 genome.wustl.edu 37 X 47498644 47498644 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 47498644 47498644 G - DEL ELK1 ENST00000247161 human ensembl 74_37 -1 known frame_shift_del c.304 p.Q102fs 0.021 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 28 0 0 47 6 11.3208 WDR13 0 genome.wustl.edu 37 X 48457035 48457036 + RNA DEL CC CC - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 48457035 48457036 CC - DEL WDR13 ENST00000479279 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors WDR13 HGNC ENSG00000101940 17 0 0 21 5 19.2308 DGKK 0 genome.wustl.edu 37 X 50111890 50111890 + RNA DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 50111890 50111890 T - DEL DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 0.486 - - - no_errors DGKK HGNC ENSG00000204466 25 0 0 38 8 17.3913 HEPH 0 genome.wustl.edu 37 X 65483525 65483525 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 65483525 65483525 A - DEL HEPH ENST00000519389 human ensembl 74_37 +1 known frame_shift_del c.3401 p.A1136fs 0.526 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 190 0 0 185 23 11.0577 PJA1 0 genome.wustl.edu 37 X 68382265 68382265 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 68382265 68382265 T - DEL PJA1 ENST00000361478 human ensembl 74_37 -1 known frame_shift_del c.817 p.I273fs 0.069 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PJA1 HGNC ENSG00000181191 161 0 0 210 37 14.9798 RGAG4 0 genome.wustl.edu 37 X 71349939 71349939 + Frame_Shift_Del DEL G G - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 71349939 71349939 G - DEL RGAG4 ENST00000479991 human ensembl 74_37 -1 known frame_shift_del c.1452 p.T485fs 0.001 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 103 0 0 148 29 16.3842 ZNF711 0 genome.wustl.edu 37 X 84526788 84526788 + Frame_Shift_Del DEL A A - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 84526788 84526788 A - DEL ZNF711 ENST00000395402 human ensembl 74_37 +1 known frame_shift_del c.2264 p.N757fs 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF711 HGNC ENSG00000147180 129 0 0 141 18 11.3208 FAM9A 0 genome.wustl.edu 37 X 8764319 8764320 + Frame_Shift_Ins INS - - T TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 8764319 8764320 - T INS FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_ins c.478_477 p.Q159fs 0.007:0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 29 0 0 39 8 17.0213 FAM9A 0 genome.wustl.edu 37 X 8764320 8764320 + Frame_Shift_Del DEL T T - TCGA-BR-4370-01A-01D-1158-08 TCGA-BR-4370-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq ff3bb252-cc2a-4053-b9c6-6e6fd8de6d8e 18ac71f7-5e0b-4232-b724-197e4e4c1ea8 X 8764320 8764320 T - DEL FAM9A ENST00000381003 human ensembl 74_37 -1 known frame_shift_del c.477 p.K159fs 0.007 NULL NULL - no_errors FAM9A HGNC ENSG00000183304 29 0 0 40 7 14.8936