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 VANGL1 0 genome.wustl.edu 37 1 116226631 116226631 + Nonsense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 116226631 116226631 C A SNP VANGL1 ENST00000310260 human ensembl 74_37 +1 known nonsense c.1013 p.S338* 0.975 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL1 HGNC ENSG00000173218 140 0 0 45 16 26.2295 PRAMEF2 0 genome.wustl.edu 37 1 12919064 12919064 + Missense_Mutation SNP T T G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 12919064 12919064 T G SNP PRAMEF2 ENST00000240189 human ensembl 74_37 +1 known missense c.200 p.V67G 0.198 NULL NULL - no_errors PRAMEF2 HGNC ENSG00000120952 159 1 0.625 61 7 10.2941 HRNR 0 genome.wustl.edu 37 1 152186120 152186120 + Missense_Mutation SNP A A G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 152186120 152186120 A G SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.7985 p.L2662S 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 40 0 0 17 3 15 CADM3 0 genome.wustl.edu 37 1 159170642 159170642 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 159170642 159170642 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.1229 p.A410V 0.999 NULL pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 178 0 0 74 4 5.12821 ATP1A4 0 genome.wustl.edu 37 1 160141163 160141163 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 160141163 160141163 C T SNP ATP1A4 ENST00000368081 human ensembl 74_37 +1 known silent c.1614 p.N538 0.264 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A4 HGNC ENSG00000132681 118 0 0 66 5 7.04225 CFHR1 0 genome.wustl.edu 37 1 196799765 196799765 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 196799765 196799765 G A SNP CFHR1 ENST00000320493 human ensembl 74_37 +1 known missense c.743 p.R248Q 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR1 HGNC ENSG00000244414 168 1 0.591716 93 36 27.907 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 315 0 0 97 34 25.9542 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 331 1 0.301205 114 53 31.7365 TLR5 0 genome.wustl.edu 37 1 223285764 223285764 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 223285764 223285764 C A SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.610 p.A204S 0.000 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 153 0 0 69 9 11.5385 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_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 193 0 0 58 37 38.9474 MTR 0 genome.wustl.edu 37 1 237026774 237026774 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 237026774 237026774 C T SNP MTR ENST00000366577 human ensembl 74_37 +1 known silent c.2325 p.I775 0.024 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,pirsf_MetH,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 64 0 0 35 5 12.5 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 17 0 0 6 8 57.1429 TTC4 0 genome.wustl.edu 37 1 55186864 55186864 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 1 55186864 55186864 G A SNP TTC4 ENST00000371281 human ensembl 74_37 +1 known silent c.420 p.V140 0.677 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 92 0 0 52 6 10.3448 GAD2 0 genome.wustl.edu 37 10 26581413 26581413 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 10 26581413 26581413 C T SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.1406 p.A469V 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 145 0 0 104 12 10.3448 PTCHD3 0 genome.wustl.edu 37 10 27688039 27688039 + Silent SNP A A T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 10 27688039 27688039 A T SNP PTCHD3 ENST00000438700 human ensembl 74_37 -1 known silent c.1488 p.T496 0.993 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD3 HGNC ENSG00000182077 187 0 0 140 8 5.40541 CHAT 0 genome.wustl.edu 37 10 50835788 50835788 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 10 50835788 50835788 C T SNP CHAT ENST00000337653 human ensembl 74_37 +1 known silent c.1068 p.D356 0.999 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CHAT HGNC ENSG00000070748 99 0 0 79 6 7.05882 CCAR1 0 genome.wustl.edu 37 10 70496773 70496773 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 10 70496773 70496773 C A SNP CCAR1 ENST00000265872 human ensembl 74_37 +1 known missense c.214 p.Q72K 1.000 NULL pfam_SAP_dom,superfamily_NA-bd_OB-fold,smart_SAP_dom,pfscan_SAP_dom - no_errors CCAR1 HGNC ENSG00000060339 62 0 0 27 18 40 CEP55 0 genome.wustl.edu 37 10 95275202 95275202 + Missense_Mutation SNP A A C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 10 95275202 95275202 A C SNP CEP55 ENST00000371485 human ensembl 74_37 +1 known missense c.569 p.Q190P 1.000 pfam_EABR pfam_EABR - no_errors CEP55 HGNC ENSG00000138180 185 0 0 90 7 7.21649 RRP12 0 genome.wustl.edu 37 10 99141471 99141471 + Splice_Site SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 10 99141471 99141471 C G SNP RRP12 ENST00000370992 human ensembl 74_37 -1 known splice_site c.1320+1 e11+1 1.000 - - - no_errors RRP12 HGNC ENSG00000052749 73 0 0 28 6 17.6471 MSANTD4 0 genome.wustl.edu 37 11 105881310 105881310 + Missense_Mutation SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 105881310 105881310 T C SNP MSANTD4 ENST00000301919 human ensembl 74_37 -1 known missense c.335 p.D112G 0.999 NULL NULL - no_errors MSANTD4 HGNC ENSG00000170903 147 0 0 135 9 6.25 CLDN25 0 genome.wustl.edu 37 11 113650730 113650730 + Missense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 113650730 113650730 G T SNP CLDN25 ENST00000453129 human ensembl 74_37 +1 known missense c.213 p.L71F 0.953 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC ENSG00000228607 250 1 0.398406 103 15 12.7119 FXYD6 0 genome.wustl.edu 37 11 117711023 117711023 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 117711023 117711023 C T SNP FXYD6 ENST00000524841 human ensembl 74_37 -1 known silent c.270 p.P90 0.000 NULL pfam_Ion-transport_regulator_FXYD - no_errors FXYD6 HGNC ENSG00000137726 162 0 0 62 8 11.4286 OR10G9 0 genome.wustl.edu 37 11 123893746 123893746 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 123893746 123893746 G A SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known silent c.27 p.A9 0.002 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 281 0 0 160 16 9.09091 MRGPRX4 0 genome.wustl.edu 37 11 18194966 18194966 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 18194966 18194966 C T SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known missense c.163 p.R55C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 197 0 0 119 33 21.7105 DCDC1 0 genome.wustl.edu 37 11 31327931 31327931 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 31327931 31327931 C A SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known missense c.439 p.A147S 0.000 NULL pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 89 0 0 45 13 22.4138 GANAB 0 genome.wustl.edu 37 11 62400952 62400952 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 62400952 62400952 C G SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.661 p.A221P 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 161 0 0 69 19 21.5909 RIN1 0 genome.wustl.edu 37 11 66099763 66099763 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 11 66099763 66099763 C T SNP RIN1 ENST00000311320 human ensembl 74_37 -1 known missense c.2336 p.R779Q 0.000 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 269 0 0 115 18 13.5338 GAS2L3 0 genome.wustl.edu 37 12 101016092 101016092 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 101016092 101016092 C G SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known missense c.688 p.H230D 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 102 0 0 95 9 8.65385 GAS2L3 0 genome.wustl.edu 37 12 101016095 101016095 + Nonsense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 101016095 101016095 C T SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known nonsense c.691 p.R231* 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 102 0 0 94 9 8.73786 GAS2L3 0 genome.wustl.edu 37 12 101017925 101017925 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 101017925 101017925 C G SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known missense c.1342 p.P448A 0.002 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 243 0 0 143 21 12.8049 GAS2L3 0 genome.wustl.edu 37 12 101018070 101018070 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 101018070 101018070 C A SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known missense c.1487 p.S496Y 0.121 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 138 1 0.719424 75 14 15.7303 GAS2L3 0 genome.wustl.edu 37 12 101018357 101018357 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 101018357 101018357 C G SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known missense c.1774 p.Q592E 0.973 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 94 0 0 48 5 9.43396 KIAA1033 0 genome.wustl.edu 37 12 105558445 105558445 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 105558445 105558445 G A SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known silent c.3381 p.L1127 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 39 0 0 31 2 6.06061 PLA2G1B 0 genome.wustl.edu 37 12 120763699 120763699 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 120763699 120763699 C A SNP PLA2G1B ENST00000308366 human ensembl 74_37 -1 known missense c.159 p.L53F 0.998 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G1B HGNC ENSG00000170890 310 0 0 141 33 18.9655 HCAR2 0 genome.wustl.edu 37 12 123187315 123187315 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 123187315 123187315 G A SNP HCAR2 ENST00000328880 human ensembl 74_37 -1 known silent c.516 p.G172 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors HCAR2 HGNC ENSG00000182782 138 0 0 88 12 12 LINC00477 0 genome.wustl.edu 37 12 24736768 24736768 + RNA SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 24736768 24736768 C A SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00477 HGNC ENSG00000197503 115 1 0.862069 36 9 20 NTN4 0 genome.wustl.edu 37 12 96077367 96077367 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 12 96077367 96077367 C G SNP NTN4 ENST00000343702 human ensembl 74_37 -1 known missense c.1301 p.C434S 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 100 0 0 74 5 6.32911 RASA3 0 genome.wustl.edu 37 13 114806557 114806557 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 13 114806557 114806557 G C SNP RASA3 ENST00000334062 human ensembl 74_37 -1 known missense c.291 p.I97M 0.417 superfamily_C2_dom,smart_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC ENSG00000185989 129 0 0 55 14 20.2899 N4BP2L2 0 genome.wustl.edu 37 13 33016759 33016759 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 13 33016759 33016759 C G SNP N4BP2L2 ENST00000399396 human ensembl 74_37 -1 known missense c.1915 p.E639Q 0.441 NULL superfamily_P-loop_NTPase - no_errors N4BP2L2 HGNC ENSG00000244754 68 0 0 38 6 13.6364 GPC5 0 genome.wustl.edu 37 13 92101163 92101163 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 13 92101163 92101163 G A SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known silent c.312 p.A104 0.779 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 136 1 0.729927 72 27 27.2727 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 168 0 0 38 39 50.6494 PRKD1 0 genome.wustl.edu 37 14 30100211 30100211 + Missense_Mutation SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 14 30100211 30100211 T C SNP PRKD1 ENST00000331968 human ensembl 74_37 -1 known missense c.1409 p.E470G 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC ENSG00000184304 111 0 0 55 6 9.83607 ARF6 0 genome.wustl.edu 37 14 50360781 50360781 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 14 50360781 50360781 C T SNP ARF6 ENST00000298316 human ensembl 74_37 +1 known silent c.327 p.D109 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,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_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,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 ARF6 HGNC ENSG00000165527 73 0 0 48 4 7.69231 FRMD6 0 genome.wustl.edu 37 14 52186907 52186907 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 14 52186907 52186907 G A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.1159 p.A387T 0.002 NULL pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 121 0 0 57 5 8.06452 PAPLN 0 genome.wustl.edu 37 14 73730411 73730411 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 14 73730411 73730411 C T SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known missense c.2782 p.R928W 0.001 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom 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 113 0 0 43 9 17.3077 DMXL2 0 genome.wustl.edu 37 15 51766637 51766637 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 15 51766637 51766637 C A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.7117 p.A2373S 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 124 0 0 32 34 51.5152 MAPK8IP3 0 genome.wustl.edu 37 16 1808983 1808983 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 16 1808983 1808983 C T SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.1230 p.R410 0.806 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 127 0 0 59 6 9.23077 SPN 0 genome.wustl.edu 37 16 29675436 29675436 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 16 29675436 29675436 C T SNP SPN ENST00000360121 human ensembl 74_37 +1 known silent c.387 p.T129 0.000 NULL NULL - no_errors SPN HGNC ENSG00000197471 130 0 0 76 15 16.4835 MYH1 0 genome.wustl.edu 37 17 10417440 10417440 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 17 10417440 10417440 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.535 p.G179R 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 111 0 0 50 6 10.7143 SLC5A10 0 genome.wustl.edu 37 17 18918411 18918411 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 17 18918411 18918411 G A SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known silent c.1188 p.S396 0.917 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 107 0 0 35 2 5.40541 MYBBP1A 0 genome.wustl.edu 37 17 4457494 4457494 + Missense_Mutation SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 17 4457494 4457494 T C SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.374 p.K125R 0.999 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 166 0 0 64 5 7.24638 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 69 0 0 16 6 27.2727 POLG2 0 genome.wustl.edu 37 17 62488810 62488810 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 17 62488810 62488810 G A SNP POLG2 ENST00000539111 human ensembl 74_37 -1 known missense c.769 p.R257C 0.998 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 77 0 0 36 4 10 KCNJ16 0 genome.wustl.edu 37 17 68128638 68128638 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 17 68128638 68128638 G A SNP KCNJ16 ENST00000283936 human ensembl 74_37 +1 known missense c.410 p.R137H 0.550 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC ENSG00000153822 74 0 0 82 8 8.88889 TP53 0 genome.wustl.edu 37 17 7577568 7577568 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 17 7577568 7577568 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.713 p.C238F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 110 0 0 44 4 8.33333 SETBP1 0 genome.wustl.edu 37 18 42532485 42532485 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 18 42532485 42532485 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.3180 p.M1060I 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 67 0 0 42 10 19.2308 RNF165 0 genome.wustl.edu 37 18 44013434 44013434 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 18 44013434 44013434 G A SNP RNF165 ENST00000269439 human ensembl 74_37 +1 known missense c.343 p.E115K 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF165 HGNC ENSG00000141622 79 0 0 29 2 6.45161 CDH20 0 genome.wustl.edu 37 18 59221564 59221564 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 18 59221564 59221564 C T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.2042 p.A681V 0.997 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 220 0 0 102 10 8.92857 RDH8 0 genome.wustl.edu 37 19 10132297 10132297 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 19 10132297 10132297 G A SNP RDH8 ENST00000591589 human ensembl 74_37 +1 known missense c.868 p.V290M 0.928 pirsf_17beta_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors RDH8 HGNC ENSG00000080511 148 1 0.671141 53 10 15.873 CYP4F22 0 genome.wustl.edu 37 19 15651382 15651382 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 19 15651382 15651382 C T SNP CYP4F22 ENST00000269703 human ensembl 74_37 +1 known missense c.793 p.R265W 0.788 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F22 HGNC ENSG00000171954 174 0 0 84 6 6.66667 NWD1 0 genome.wustl.edu 37 19 16860087 16860087 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 19 16860087 16860087 G C SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known missense c.634 p.A212P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 151 0 0 59 19 24.359 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 225 0 0 102 34 25 TMC4 0 genome.wustl.edu 37 19 54676754 54676754 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 19 54676754 54676754 G C SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.59 p.A20G 0.989 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 372 0 0 181 23 11.2745 LILRB5 0 genome.wustl.edu 37 19 54758651 54758651 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 19 54758651 54758651 G C SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.1175 p.S392C 0.000 smart_Ig_sub,smart_Ig_sub2 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 115 0 0 38 19 33.3333 TTYH1 0 genome.wustl.edu 37 19 54932467 54932467 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 19 54932467 54932467 G A SNP TTYH1 ENST00000376531 human ensembl 74_37 +1 known missense c.322 p.G108S 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH1 HGNC ENSG00000167614 128 0 0 48 9 15.7895 PSD4 0 genome.wustl.edu 37 2 113942985 113942985 + Nonsense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 2 113942985 113942985 G A SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known nonsense c.1217 p.W406* 0.494 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 PSD4 HGNC ENSG00000125637 231 0 0 121 8 6.20155 NEB 0 genome.wustl.edu 37 2 152397310 152397310 + Silent SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 2 152397310 152397310 C A SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.20688 p.L6896 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 83 0 0 40 5 11.1111 RAD51AP2 0 genome.wustl.edu 37 2 17698091 17698091 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 2 17698091 17698091 G A SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known missense c.1592 p.T531I 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 14 0 0 14 7 33.3333 FSIP2 0 genome.wustl.edu 37 2 186672333 186672333 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 2 186672333 186672333 G C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known missense c.18567 p.E6189D 0.007 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 212 0 0 116 12 9.375 CXXC11 0 genome.wustl.edu 37 2 242814250 242814250 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 2 242814250 242814250 C T SNP CXXC11 ENST00000343216 human ensembl 74_37 +1 known silent c.543 p.T181 0.001 NULL NULL - no_errors CXXC11 HGNC ENSG00000188011 32 0 0 15 3 16.6667 RAB10 0 genome.wustl.edu 37 2 26332773 26332773 + Nonsense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 2 26332773 26332773 G T SNP RAB10 ENST00000264710 human ensembl 74_37 +1 known nonsense c.325 p.E109* 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,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 RAB10 HGNC ENSG00000084733 106 0 0 53 9 14.5161 TMEM178A 0 genome.wustl.edu 37 2 39893123 39893123 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 2 39893123 39893123 G A SNP TMEM178A ENST00000281961 human ensembl 74_37 +1 known silent c.9 p.P3 0.998 NULL NULL - no_errors TMEM178A HGNC ENSG00000152154 13 0 0 2 2 50 ESF1 0 genome.wustl.edu 37 20 13763346 13763346 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 20 13763346 13763346 C G SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.441 p.K147N 0.758 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 47 0 0 34 2 5.55556 TTI1 0 genome.wustl.edu 37 20 36627656 36627656 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 20 36627656 36627656 C T SNP TTI1 ENST00000373447 human ensembl 74_37 -1 known silent c.2727 p.Q909 0.998 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 141 0 0 75 8 9.63855 ZHX3 0 genome.wustl.edu 37 20 39833134 39833134 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 20 39833134 39833134 G A SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known silent c.423 p.N141 0.974 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 121 0 0 116 13 10.0775 MCM8 0 genome.wustl.edu 37 20 5948171 5948171 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 20 5948171 5948171 G A SNP MCM8 ENST00000378886 human ensembl 74_37 +1 known missense c.965 p.S322N 1.000 superfamily_NA-bd_OB-fold,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC ENSG00000125885 139 0 0 73 50 40.6504 C20orf166-AS1 0 genome.wustl.edu 37 20 61143364 61143364 + RNA SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 20 61143364 61143364 T C SNP C20orf166-AS1 ENST00000412495 human ensembl 74_37 -1 known rna NULL NULL 0.042 - - - no_errors C20orf166-AS1 HGNC ENSG00000174403 55 0 0 35 4 10.2564 RIPK4 0 genome.wustl.edu 37 21 43169357 43169357 + Silent SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 21 43169357 43169357 C G SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known silent c.630 p.A210 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_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 83 0 0 41 4 8.88889 TOM1 0 genome.wustl.edu 37 22 35719519 35719519 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 22 35719519 35719519 G A SNP TOM1 ENST00000411850 human ensembl 74_37 +1 known missense c.397 p.D133N 1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 199 0 0 95 22 18.8034 LMF2 0 genome.wustl.edu 37 22 50944128 50944128 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 22 50944128 50944128 G A SNP LMF2 ENST00000474879 human ensembl 74_37 -1 known silent c.891 p.H297 0.000 pfam_LMF pfam_LMF - no_errors LMF2 HGNC ENSG00000100258 106 0 0 43 5 10.4167 FANCD2 0 genome.wustl.edu 37 3 10138069 10138069 + Silent SNP T T G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 10138069 10138069 T G SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known silent c.4098 p.L1366 1.000 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 204 0 0 91 9 9 ATP2B2 0 genome.wustl.edu 37 3 10417266 10417266 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 10417266 10417266 C T SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.1264 p.V422M 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 ATP2B2 HGNC ENSG00000157087 72 0 0 58 6 9.375 MBD4 0 genome.wustl.edu 37 3 129152786 129152786 + Missense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 129152786 129152786 G T SNP MBD4 ENST00000249910 human ensembl 74_37 -1 known missense c.1318 p.P440T 1.000 superfamily_DNA_glycosylase,pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 169 0 0 100 15 13.0435 EPHB1 0 genome.wustl.edu 37 3 134920403 134920403 + Missense_Mutation SNP T T C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 134920403 134920403 T C SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2218 p.Y740H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 390 0 0 140 21 13.0435 FBLN2 0 genome.wustl.edu 37 3 13669425 13669425 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 13669425 13669425 G A SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.2525 p.R842H 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_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 163 0 0 58 5 7.93651 CLDN11 0 genome.wustl.edu 37 3 170150502 170150502 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 170150502 170150502 G A SNP CLDN11 ENST00000064724 human ensembl 74_37 +1 known silent c.582 p.A194 0.782 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin11,prints_Claudin - no_errors CLDN11 HGNC ENSG00000013297 175 0 0 102 13 11.3043 ECT2 0 genome.wustl.edu 37 3 172486836 172486836 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 172486836 172486836 C T SNP ECT2 ENST00000427830 human ensembl 74_37 +1 known missense c.1238 p.T413I 1.000 superfamily_DH-domain pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC ENSG00000114346 128 0 0 95 18 15.9292 ATP13A5 0 genome.wustl.edu 37 3 193081122 193081122 + Missense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 193081122 193081122 G T SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.287 p.S96Y 0.998 pfam_ATPase_P-typ_Cation_typ_V,tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 126 0 0 119 7 5.55556 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 144 0 0 58 24 29.2683 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 279 1 0.357143 58 39 40.2062 TRMT10A 0 genome.wustl.edu 37 4 100470352 100470352 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 4 100470352 100470352 C T SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.913 p.D305N 1.000 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 188 0 0 126 21 14.2857 PCDH10 0 genome.wustl.edu 37 4 134073378 134073378 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 4 134073378 134073378 G C SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.2083 p.G695R 0.972 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 105 0 0 42 9 17.6471 EPHA5 0 genome.wustl.edu 37 4 66217148 66217148 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 4 66217148 66217148 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2467 p.R823W 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,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 147 0 0 72 6 7.69231 UBA6-AS1 0 genome.wustl.edu 37 4 68928339 68928339 + RNA SNP T T A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 4 68928339 68928339 T A SNP UBA6-AS1 ENST00000500538 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBA6-AS1 HGNC ENSG00000248049 207 0 0 97 13 11.8182 CTNND2 0 genome.wustl.edu 37 5 11364949 11364949 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 5 11364949 11364949 G A SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1231 p.R411W 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 136 1 0.729927 67 9 11.8421 BRD8 0 genome.wustl.edu 37 5 137503737 137503737 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 5 137503737 137503737 C A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.673 p.G225C 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 244 0 0 66 45 40.5405 F2R 0 genome.wustl.edu 37 5 76028449 76028449 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 5 76028449 76028449 C T SNP F2R ENST00000319211 human ensembl 74_37 +1 known silent c.399 p.V133 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 257 0 0 139 29 17.2619 MCHR2 0 genome.wustl.edu 37 6 100382330 100382330 + Silent SNP A A G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 100382330 100382330 A G SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known silent c.651 p.Y217 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 179 0 0 119 14 10.5263 FAM162B 0 genome.wustl.edu 37 6 117083148 117083148 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 117083148 117083148 C A SNP FAM162B ENST00000368557 human ensembl 74_37 -1 known missense c.382 p.A128S 0.832 pfam_DUF1075 pfam_DUF1075 - no_errors FAM162B HGNC ENSG00000183807 203 0 0 122 19 13.4752 L3MBTL3 0 genome.wustl.edu 37 6 130425629 130425629 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 130425629 130425629 C T SNP L3MBTL3 ENST00000361794 human ensembl 74_37 +1 known missense c.1795 p.R599C 1.000 NULL pfam_Mbt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL3 HGNC ENSG00000198945 255 0 0 119 12 9.16031 TULP4 0 genome.wustl.edu 37 6 158870124 158870124 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 158870124 158870124 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known missense c.640 p.G214S 1.000 superfamily_WD40_repeat_dom pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 144 0 0 64 13 16.8831 DLL1 0 genome.wustl.edu 37 6 170592399 170592399 + Missense_Mutation SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 170592399 170592399 G T SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.1968 p.D656E 0.003 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 106 0 0 47 7 12.963 SYNGAP1 0 genome.wustl.edu 37 6 33410696 33410696 + Silent SNP A A C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 33410696 33410696 A C SNP SYNGAP1 ENST00000418600 human ensembl 74_37 +1 known silent c.2367 p.P789 1.000 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC ENSG00000197283 208 1 0.478469 110 19 14.7287 FKBP5 0 genome.wustl.edu 37 6 35586920 35586920 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 35586920 35586920 C T SNP FKBP5 ENST00000357266 human ensembl 74_37 -1 known missense c.461 p.R154Q 0.001 NULL pfam_PPIase_FKBP_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP5 HGNC ENSG00000096060 136 0 0 51 7 12.069 PGM3 0 genome.wustl.edu 37 6 83892684 83892684 + Missense_Mutation SNP T T A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 6 83892684 83892684 T A SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.471 p.L157F 0.924 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 113 1 0.877193 57 22 27.8481 LRRC4 0 genome.wustl.edu 37 7 127670327 127670327 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 7 127670327 127670327 C G SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.367 p.A123P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 132 0 0 61 16 20.7792 AGMO 0 genome.wustl.edu 37 7 15584510 15584510 + Missense_Mutation SNP T T A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 7 15584510 15584510 T A SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.296 p.Y99F 0.997 NULL pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 224 0 0 110 22 16.6667 SOSTDC1 0 genome.wustl.edu 37 7 16502239 16502239 + Silent SNP G G T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 7 16502239 16502239 G T SNP SOSTDC1 ENST00000307068 human ensembl 74_37 -1 known silent c.555 p.A185 0.998 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_Cys_knot,pfam_DAN,pfscan_Cys_knot_C - no_errors SOSTDC1 HGNC ENSG00000171243 219 1 0.454545 149 46 23.5897 BMPER 0 genome.wustl.edu 37 7 34118719 34118719 + Silent SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 7 34118719 34118719 G C SNP BMPER ENST00000297161 human ensembl 74_37 +1 known silent c.1329 p.S443 0.663 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_VWF_C,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_C,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,pfscan_VWF_C - no_errors BMPER HGNC ENSG00000164619 203 0 0 90 41 31.2977 CAMK2B 0 genome.wustl.edu 37 7 44259793 44259793 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 7 44259793 44259793 C T SNP CAMK2B ENST00000395749 human ensembl 74_37 -1 known silent c.1869 p.T623 0.998 pfam_Ca/CaM-dep_prot_kinase-assoc pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2B HGNC ENSG00000058404 63 0 0 28 4 12.5 WBSCR17 0 genome.wustl.edu 37 7 70800582 70800582 + Silent SNP T T G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 7 70800582 70800582 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.285 p.G95 0.999 NULL 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 132 1 0.75188 48 26 35.1351 SEMA3A 0 genome.wustl.edu 37 7 83614755 83614755 + Missense_Mutation SNP C C G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 7 83614755 83614755 C G SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.1491 p.K497N 0.941 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 175 0 0 135 21 13.4615 MTUS1 0 genome.wustl.edu 37 8 17601257 17601257 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 8 17601257 17601257 C T SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.2143 p.D715N 0.002 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 143 0 0 61 15 19.7368 PXDNL 0 genome.wustl.edu 37 8 52384808 52384808 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 8 52384808 52384808 C T SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.751 p.V251I 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 203 1 0.490196 75 7 8.53659 PREX2 0 genome.wustl.edu 37 8 69009347 69009347 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 8 69009347 69009347 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.2464 p.V822M 0.995 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 146 0 0 75 9 10.7143 SLC2A6 0 genome.wustl.edu 37 9 136341384 136341384 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 9 136341384 136341384 G A SNP SLC2A6 ENST00000371899 human ensembl 74_37 -1 known silent c.537 p.F179 0.440 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,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A6 HGNC ENSG00000160326 95 0 0 48 6 11.1111 APBA1 0 genome.wustl.edu 37 9 72132004 72132004 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 9 72132004 72132004 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known silent c.123 p.P41 0.200 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 13 0 0 7 3 30 SPATA31D1 0 genome.wustl.edu 37 9 84609979 84609979 + Missense_Mutation SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 9 84609979 84609979 C T SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known missense c.4594 p.R1532W 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 42 0 0 25 3 10.7143 KCNE1L 0 genome.wustl.edu 37 X 108868162 108868162 + Missense_Mutation SNP C C A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 108868162 108868162 C A SNP KCNE1L ENST00000372101 human ensembl 74_37 -1 known missense c.88 p.G30C 0.334 NULL NULL - no_errors KCNE1L HGNC ENSG00000176076 48 0 0 15 12 44.4444 CAPN6 0 genome.wustl.edu 37 X 110494255 110494255 + Nonsense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 110494255 110494255 G A SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known nonsense c.1048 p.R350* 0.989 smart_Peptidase_C2_calpain_cat,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_dom,superfamily_Calpain_domain_III,superfamily_C2_dom,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN6 HGNC ENSG00000077274 950 0 0 453 59 11.5234 STAG2 0 genome.wustl.edu 37 X 123220506 123220506 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 123220506 123220506 G A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.3163 p.D1055N 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 190 0 0 101 10 9.00901 SLITRK2 0 genome.wustl.edu 37 X 144905642 144905642 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 144905642 144905642 G C SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.1699 p.E567Q 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 149 0 0 90 10 10 MIR892A 0 genome.wustl.edu 37 X 145078219 145078219 + RNA SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 145078219 145078219 C T SNP MIR892A ENST00000401124 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR892A HGNC ENSG00000215943 358 0 0 162 23 12.4324 ATP2B3 0 genome.wustl.edu 37 X 152845624 152845624 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 152845624 152845624 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.3531 p.P1177 0.000 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B3 HGNC ENSG00000067842 252 1 0.395257 134 27 16.7702 SH3KBP1 0 genome.wustl.edu 37 X 19606793 19606793 + Silent SNP C C T TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 19606793 19606793 C T SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known silent c.1266 p.P422 0.002 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 339 0 0 151 22 12.7168 SLC9A7 0 genome.wustl.edu 37 X 46541843 46541843 + Silent SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 46541843 46541843 G A SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known silent c.453 p.F151 0.955 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 106 0 0 48 11 18.6441 ZNF182 0 genome.wustl.edu 37 X 47836536 47836536 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 47836536 47836536 G A SNP ZNF182 ENST00000305127 human ensembl 74_37 -1 known missense c.950 p.P317L 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 ZNF182 HGNC ENSG00000147118 151 1 0.657895 97 7 6.73077 HUWE1 0 genome.wustl.edu 37 X 53576261 53576261 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 53576261 53576261 G A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.9694 p.R3232C 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 287 0 0 155 20 11.4286 USP51 0 genome.wustl.edu 37 X 55515254 55515254 + Missense_Mutation SNP G G A TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 55515254 55515254 G A SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.119 p.A40V 0.602 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 67 0 0 34 5 12.8205 STARD8 0 genome.wustl.edu 37 X 67940201 67940201 + Missense_Mutation SNP G G C TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 67940201 67940201 G C SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.1985 p.G662A 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 42 0 0 15 10 40 ATRX 0 genome.wustl.edu 37 X 76856165 76856165 + RNA SNP A A G TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 76856165 76856165 A G SNP ATRX ENST00000479487 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATRX HGNC ENSG00000085224 36 0 0 39 7 15.2174 FAM71B 0 genome.wustl.edu 37 5 156590425 156590425 + Frame_Shift_Del DEL A A - TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e 5 156590425 156590425 A - DEL FAM71B ENST00000302938 human ensembl 74_37 -1 known frame_shift_del c.851 p.I284fs 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 207 0 0 116 7 5.69106 TENM1 0 genome.wustl.edu 37 X 124097522 124097524 + In_Frame_Del DEL AGA AGA - TCGA-BR-8296-01A-11D-2340-08 TCGA-BR-8296-10A-01D-2340-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 64c0f192-0cd5-4a42-98e9-da539ffbdb8e 97c72465-c307-4e73-8a74-9d5c6da3680e X 124097522 124097524 AGA - DEL TENM1 ENST00000422452 human ensembl 74_37 -1 known in_frame_del c.81_79 p.S27in_frame_del 0.014:1.000:1.000 pfam_Ten_N 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 440 0 0 260 19 6.81004