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 GPR61 0 genome.wustl.edu 37 1 110085827 110085827 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 110085827 110085827 C T SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known silent c.183 p.A61 0.354 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 136 0 0 105 54 33.9623 SLC16A4 0 genome.wustl.edu 37 1 110921593 110921593 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 110921593 110921593 A G SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known silent c.912 p.F304 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 124 0 0 108 30 21.7391 SRM 0 genome.wustl.edu 37 1 11116784 11116784 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 11116784 11116784 G A SNP SRM ENST00000376957 human ensembl 74_37 -1 known missense c.412 p.P138S 1.000 pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase pfam_Spermidine/spermine_synthase,pfscan_Spermidine/spermine_synthase,tigrfam_Spermidine/spermine_synthase - no_errors SRM HGNC ENSG00000116649 89 0 0 53 30 36.1446 HIPK1 0 genome.wustl.edu 37 1 114483597 114483597 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 114483597 114483597 C T SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.592 p.R198W 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 HIPK1 HGNC ENSG00000163349 120 0 0 80 23 22.3301 ATP1A1 0 genome.wustl.edu 37 1 116931263 116931263 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 116931263 116931263 G A SNP ATP1A1 ENST00000295598 human ensembl 74_37 +1 known missense c.505 p.A169T 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 141 0 0 112 15 11.811 TTF2 0 genome.wustl.edu 37 1 117632754 117632754 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 117632754 117632754 A G SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.2420 p.E807G 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 255 1 0.390625 175 78 30.83 ENSG00000203849 0 genome.wustl.edu 37 1 142713604 142713604 + RNA SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 142713604 142713604 A G SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.153 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 57 0 0 36 9 20 PDE4DIP 0 genome.wustl.edu 37 1 144881535 144881535 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 144881535 144881535 A G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.3661 p.S1221P 1.000 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 268 0 0 216 54 20 PDE4DIP 0 genome.wustl.edu 37 1 144915576 144915576 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 144915576 144915576 A G SNP PDE4DIP ENST00000369356 human ensembl 74_37 -1 known missense c.1849 p.C617R 1.000 superfamily_ARM-type_fold pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 249 0 0 185 41 18.1416 PI4KB 0 genome.wustl.edu 37 1 151288916 151288916 + Silent SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 151288916 151288916 A C SNP PI4KB ENST00000271657 human ensembl 74_37 -1 known silent c.78 p.T26 1.000 NULL pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KB HGNC ENSG00000143393 87 0 0 56 17 23.2877 TDRKH 0 genome.wustl.edu 37 1 151747603 151747603 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 151747603 151747603 C T SNP TDRKH ENST00000368822 human ensembl 74_37 -1 known missense c.1474 p.A492T 0.999 NULL pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 150 0 0 104 27 20.6107 S100A8 0 genome.wustl.edu 37 1 153362988 153362988 + Silent SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 153362988 153362988 G T SNP S100A8 ENST00000368732 human ensembl 74_37 -1 known silent c.24 p.A8 0.001 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A8 HGNC ENSG00000143546 321 0 0 197 79 28.6232 CHRNB2 0 genome.wustl.edu 37 1 154543725 154543725 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 154543725 154543725 C T SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known silent c.426 p.S142 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 138 0 0 93 59 38.8158 RUSC1 0 genome.wustl.edu 37 1 155294263 155294263 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 155294263 155294263 T C SNP RUSC1 ENST00000368347 human ensembl 74_37 +1 known missense c.55 p.C19R 0.012 NULL pfam_Run,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC1 HGNC ENSG00000160753 56 0 0 40 15 27.2727 ASH1L 0 genome.wustl.edu 37 1 155450332 155450332 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 155450332 155450332 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.2329 p.R777C 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 372 0 0 253 109 30.1105 FCRL4 0 genome.wustl.edu 37 1 157550253 157550253 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 157550253 157550253 C T SNP FCRL4 ENST00000479869 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors FCRL4 HGNC ENSG00000163518 31 0 0 23 9 28.125 IFI16 0 genome.wustl.edu 37 1 158988127 158988127 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 158988127 158988127 A G SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known missense c.658 p.T220A 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 100 0 0 58 24 29.2683 CCDC19 0 genome.wustl.edu 37 1 159846359 159846359 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 159846359 159846359 C T SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known missense c.1339 p.E447K 1.000 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 39 0 0 25 8 24.2424 NR1I3 0 genome.wustl.edu 37 1 161201029 161201029 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 161201029 161201029 G T SNP NR1I3 ENST00000367979 human ensembl 74_37 -1 known missense c.701 p.P234H 0.016 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1I3 HGNC ENSG00000143257 74 0 0 49 22 30.9859 ALDH9A1 0 genome.wustl.edu 37 1 165638534 165638534 + Nonsense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 165638534 165638534 G A SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known nonsense c.1084 p.R362* 0.951 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 176 0 0 128 48 27.2727 KLHL20 0 genome.wustl.edu 37 1 173720977 173720977 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 173720977 173720977 C T SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known silent c.672 p.N224 0.986 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC ENSG00000076321 68 0 0 42 18 30 ASTN1 0 genome.wustl.edu 37 1 176926923 176926923 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 176926923 176926923 A G SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1802 p.V601A 0.999 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 49 0 0 32 18 36 RALGPS2 0 genome.wustl.edu 37 1 178854243 178854243 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 178854243 178854243 C T SNP RALGPS2 ENST00000367635 human ensembl 74_37 +1 known nonsense c.937 p.R313* 0.970 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC ENSG00000116191 102 0 0 81 30 27.027 LAMC1 0 genome.wustl.edu 37 1 183111832 183111832 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 183111832 183111832 C T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known silent c.4737 p.I1579 0.469 NULL 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 70 0 0 52 23 30.6667 RGS13 0 genome.wustl.edu 37 1 192628502 192628502 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 192628502 192628502 T C SNP RGS13 ENST00000391995 human ensembl 74_37 +1 known missense c.329 p.I110T 0.082 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS13 HGNC ENSG00000127074 79 0 0 45 24 34.7826 EMC1 0 genome.wustl.edu 37 1 19577930 19577930 + Missense_Mutation SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 19577930 19577930 T A SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.74 p.D25V 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 67 0 0 40 14 25.9259 CFHR1 0 genome.wustl.edu 37 1 196799764 196799764 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 196799764 196799764 C T SNP CFHR1 ENST00000320493 human ensembl 74_37 +1 known nonsense c.742 p.R248* 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 167 0 0 113 40 26.1438 ASPM 0 genome.wustl.edu 37 1 197060039 197060039 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 197060039 197060039 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.9577 p.R3193C 0.218 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 115 0 0 63 19 23.1707 C1orf106 0 genome.wustl.edu 37 1 200880598 200880598 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 200880598 200880598 C T SNP C1orf106 ENST00000367342 human ensembl 74_37 +1 known missense c.1232 p.A411V 0.036 NULL pfam_DUF3338 - no_errors C1orf106 HGNC ENSG00000163362 363 0 0 260 99 27.5766 UBE2T 0 genome.wustl.edu 37 1 202304780 202304780 + Nonsense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 202304780 202304780 G A SNP UBE2T ENST00000367274 human ensembl 74_37 -1 known nonsense c.103 p.R35* 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2T HGNC ENSG00000077152 99 0 0 79 42 34.7107 PIK3C2B 0 genome.wustl.edu 37 1 204413529 204413529 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 204413529 204413529 C T SNP PIK3C2B ENST00000367187 human ensembl 74_37 -1 known missense c.2702 p.R901H 0.314 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_dom,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 52 0 0 26 12 31.5789 SLC45A3 0 genome.wustl.edu 37 1 205628251 205628251 + RNA SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 205628251 205628251 T G SNP SLC45A3 ENST00000460934 human ensembl 74_37 -1 known rna NULL NULL 0.336 - - - no_errors SLC45A3 HGNC ENSG00000158715 11 0 0 10 4 28.5714 FAIM3 0 genome.wustl.edu 37 1 207078326 207078326 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 207078326 207078326 C T SNP FAIM3 ENST00000528654 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAIM3 HGNC ENSG00000162894 121 0 0 83 42 33.6 PINK1 0 genome.wustl.edu 37 1 20964564 20964564 + Missense_Mutation SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 20964564 20964564 A C SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.617 p.E206A 0.004 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 PINK1 HGNC ENSG00000158828 79 0 0 51 20 28.169 DIEXF 0 genome.wustl.edu 37 1 210006641 210006641 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 210006641 210006641 G A SNP DIEXF ENST00000491415 human ensembl 74_37 +1 known missense c.500 p.S167N 1.000 NULL pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase - no_errors DIEXF HGNC ENSG00000117597 138 0 0 106 35 24.8227 ECE1 0 genome.wustl.edu 37 1 21599193 21599193 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 21599193 21599193 G A SNP ECE1 ENST00000374893 human ensembl 74_37 -1 known silent c.492 p.L164 0.027 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECE1 HGNC ENSG00000117298 63 0 0 46 20 30.303 JMJD4 0 genome.wustl.edu 37 1 227920368 227920368 + Silent SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 227920368 227920368 T G SNP JMJD4 ENST00000366758 human ensembl 74_37 -1 known silent c.1117 p.R373 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD4 HGNC ENSG00000081692 62 0 0 38 13 25.4902 PRSS38 0 genome.wustl.edu 37 1 228003829 228003829 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 228003829 228003829 G A SNP PRSS38 ENST00000366757 human ensembl 74_37 +1 known missense c.187 p.G63S 0.977 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS38 HGNC ENSG00000185888 158 0 0 101 61 37.6543 OBSCN 0 genome.wustl.edu 37 1 228404718 228404718 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 228404718 228404718 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.2382 p.L794 0.000 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 30 0 0 24 11 31.4286 ABCB10 0 genome.wustl.edu 37 1 229685122 229685122 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 229685122 229685122 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.577 p.G193R 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 72 0 0 50 17 25.3731 C1orf198 0 genome.wustl.edu 37 1 230979323 230979323 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 230979323 230979323 G A SNP C1orf198 ENST00000366663 human ensembl 74_37 -1 known missense c.704 p.P235L 0.001 NULL NULL - no_errors C1orf198 HGNC ENSG00000119280 89 0 0 63 23 26.7442 RYR2 0 genome.wustl.edu 37 1 237666765 237666765 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 237666765 237666765 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.2567 p.T856M 0.994 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 117 0 0 113 7 5.83333 KIF26B 0 genome.wustl.edu 37 1 245848974 245848974 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 245848974 245848974 C T SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known nonsense c.2689 p.Q897* 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 35 0 0 22 9 29.0323 ZNF669 0 genome.wustl.edu 37 1 247267342 247267342 + Missense_Mutation SNP G G C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 247267342 247267342 G C SNP ZNF669 ENST00000343381 human ensembl 74_37 -1 known missense c.160 p.R54G 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF669 HGNC ENSG00000188295 10 0 0 7 4 36.3636 OR2G3 0 genome.wustl.edu 37 1 247769005 247769005 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 247769005 247769005 G A SNP OR2G3 ENST00000320002 human ensembl 74_37 +1 known missense c.118 p.V40M 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G3 HGNC ENSG00000177476 328 0 0 237 92 27.9635 PTPRU 0 genome.wustl.edu 37 1 29581889 29581889 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 29581889 29581889 G T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.176 p.G59V 0.997 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 153 0 0 114 34 22.973 RBBP4 0 genome.wustl.edu 37 1 33134451 33134451 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 33134451 33134451 A G SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.596 p.D199G 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Histone-bd_RBBP4_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP4 HGNC ENSG00000162521 106 1 0.934579 64 29 31.1828 EPHA10 0 genome.wustl.edu 37 1 38227120 38227120 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 38227120 38227120 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known silent c.807 p.C269 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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 63 0 0 41 17 29.3103 RLF 0 genome.wustl.edu 37 1 40705156 40705156 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 40705156 40705156 C T SNP RLF ENST00000372771 human ensembl 74_37 +1 known silent c.4782 p.Y1594 0.178 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC ENSG00000117000 108 0 0 75 25 25 SLFNL1 0 genome.wustl.edu 37 1 41483496 41483496 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 41483496 41483496 G A SNP SLFNL1 ENST00000302946 human ensembl 74_37 -1 known silent c.768 p.G256 1.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFNL1 HGNC ENSG00000171790 89 0 0 65 21 24.4186 TIE1 0 genome.wustl.edu 37 1 43772883 43772883 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 43772883 43772883 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.711 p.C237 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 115 0 0 35 41 53.9474 DMRTB1 0 genome.wustl.edu 37 1 53927224 53927224 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 53927224 53927224 C T SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known missense c.656 p.P219L 0.001 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 175 0 0 134 58 30.2083 RERE 0 genome.wustl.edu 37 1 8418972 8418972 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 8418972 8418972 G A SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3623 p.A1208V 0.998 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 120 0 0 79 30 27.5229 BRDT 0 genome.wustl.edu 37 1 92428391 92428391 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 92428391 92428391 G A SNP BRDT ENST00000362005 human ensembl 74_37 +1 known missense c.80 p.R27Q 0.924 superfamily_Bromodomain,smart_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRDT HGNC ENSG00000137948 185 0 0 200 14 6.54206 ABCA4 0 genome.wustl.edu 37 1 94502716 94502716 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 94502716 94502716 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.3798 p.D1266 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 158 0 0 104 45 30.2013 SEC31B 0 genome.wustl.edu 37 10 102247423 102247423 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 102247423 102247423 T G SNP SEC31B ENST00000370345 human ensembl 74_37 -1 known missense c.3490 p.M1164L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 19 0 0 21 9 30 SUFU 0 genome.wustl.edu 37 10 104356986 104356986 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 104356986 104356986 C T SNP SUFU ENST00000369902 human ensembl 74_37 +1 known silent c.846 p.P282 0.006 pfam_SUFU_C,pirsf_Suppressor_of_fused_euk pfam_SUFU_C,pfam_SUFU-like_domain,pirsf_Suppressor_of_fused_euk - no_errors SUFU HGNC ENSG00000107882 182 0 0 104 56 35 NRAP 0 genome.wustl.edu 37 10 115364629 115364629 + Silent SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 115364629 115364629 G T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known silent c.3990 p.P1330 0.060 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 151 0 0 107 45 29.6053 UPF2 0 genome.wustl.edu 37 10 11997436 11997436 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 11997436 11997436 C T SNP UPF2 ENST00000356352 human ensembl 74_37 -1 known missense c.2645 p.R882Q 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors UPF2 HGNC ENSG00000151461 108 0 0 64 30 31.9149 CDC123 0 genome.wustl.edu 37 10 12291660 12291660 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 12291660 12291660 C T SNP CDC123 ENST00000281141 human ensembl 74_37 +1 known silent c.927 p.D309 1.000 pfam_D123,pirsf_Cell_div_Cdc123 pfam_D123,pirsf_Cell_div_Cdc123 - no_errors CDC123 HGNC ENSG00000151465 142 0 0 86 51 37.2263 BEND7 0 genome.wustl.edu 37 10 13541863 13541863 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 13541863 13541863 C T SNP BEND7 ENST00000396900 human ensembl 74_37 -1 known silent c.363 p.P121 0.003 NULL pfam_BEN_domain - no_errors BEND7 HGNC ENSG00000165626 120 0 0 84 36 30 HSPA14 0 genome.wustl.edu 37 10 14896175 14896175 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 14896175 14896175 G A SNP HSPA14 ENST00000378372 human ensembl 74_37 +1 known silent c.786 p.T262 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA14 HGNC ENSG00000187522 161 0 0 105 53 33.5443 PLXDC2 0 genome.wustl.edu 37 10 20290849 20290849 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 20290849 20290849 T C SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.258 p.S86 0.781 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 50 0 0 50 12 19.3548 SVIL 0 genome.wustl.edu 37 10 29811362 29811362 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 29811362 29811362 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known silent c.3366 p.S1122 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 88 0 0 51 28 35.443 ZMYND11 0 genome.wustl.edu 37 10 298390 298390 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 298390 298390 A G SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.1789 p.T597A 1.000 pfscan_Znf_MYND pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 189 1 0.526316 123 48 28.0702 GPRIN2 0 genome.wustl.edu 37 10 47000018 47000018 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 47000018 47000018 C T SNP GPRIN2 ENST00000374314 human ensembl 74_37 +1 known missense c.1138 p.R380W 1.000 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 155 0 0 114 14 10.9375 GDF10 0 genome.wustl.edu 37 10 48429407 48429407 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 48429407 48429407 C T SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known missense c.479 p.R160H 1.000 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 35 0 0 32 8 20 C10orf128 0 genome.wustl.edu 37 10 50374941 50374941 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 50374941 50374941 G T SNP C10orf128 ENST00000374151 human ensembl 74_37 -1 known missense c.211 p.L71M 0.000 NULL NULL - no_errors C10orf128 HGNC ENSG00000204161 144 0 0 104 29 21.8045 PCDH15 0 genome.wustl.edu 37 10 55570438 55570438 + Splice_Site SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 55570438 55570438 T G SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known splice_site c.4374-2 e33-2 1.000 - - - no_errors PCDH15 HGNC ENSG00000150275 133 0 0 108 27 20 ANK3 0 genome.wustl.edu 37 10 62021641 62021641 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 62021641 62021641 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.774 p.A258 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_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 81 0 0 57 18 24 ZNF365 0 genome.wustl.edu 37 10 64136621 64136621 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 64136621 64136621 C T SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known silent c.669 p.D223 0.219 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 209 0 0 140 71 33.6493 VCL 0 genome.wustl.edu 37 10 75877825 75877825 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 75877825 75877825 T C SNP VCL ENST00000211998 human ensembl 74_37 +1 known silent c.3303 p.S1101 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC ENSG00000035403 215 0 0 145 79 35.2679 LRIT2 0 genome.wustl.edu 37 10 85984651 85984651 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 85984651 85984651 C T SNP LRIT2 ENST00000538192 human ensembl 74_37 -1 known silent c.330 p.L110 0.998 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,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 LRIT2 HGNC ENSG00000204033 255 0 0 187 83 30.7407 TNKS2 0 genome.wustl.edu 37 10 93622745 93622745 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 93622745 93622745 G A SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known missense c.3490 p.V1164I 0.807 pfscan_Poly(ADP-ribose)pol_cat_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 34 0 0 11 5 31.25 CRTAC1 0 genome.wustl.edu 37 10 99683148 99683148 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 99683148 99683148 G A SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.431 p.T144M 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 115 0 0 79 51 39.2308 PGR 0 genome.wustl.edu 37 11 100999546 100999546 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 100999546 100999546 C T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.256 p.A86T 0.021 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 72 0 0 39 19 32.7586 ZW10 0 genome.wustl.edu 37 11 113629418 113629418 + Missense_Mutation SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 113629418 113629418 A C SNP ZW10 ENST00000200135 human ensembl 74_37 -1 known missense c.591 p.S197R 0.998 pfam_RZZ-complex_Zw10 pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ENSG00000086827 84 0 0 46 28 37.8378 CSNK2A3 0 genome.wustl.edu 37 11 11374527 11374527 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 11374527 11374527 C T SNP CSNK2A3 ENST00000528848 human ensembl 74_37 -1 novel missense c.140 p.R47Q 0.985 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK2A3 HGNC ENSG00000254598 127 0 0 77 31 28.7037 C11orf71 0 genome.wustl.edu 37 11 114270731 114270731 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 114270731 114270731 T G SNP C11orf71 ENST00000325636 human ensembl 74_37 -1 known missense c.323 p.Q108P 0.023 NULL NULL - no_errors C11orf71 HGNC ENSG00000180425 83 0 0 65 23 26.1364 MICALCL 0 genome.wustl.edu 37 11 12315408 12315408 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 12315408 12315408 C T SNP MICALCL ENST00000256186 human ensembl 74_37 +1 known nonsense c.430 p.Q144* 0.019 NULL pfam_DUF3585,smart_ProQ/FinO - no_errors MICALCL HGNC ENSG00000133808 83 0 0 49 23 31.9444 ROBO4 0 genome.wustl.edu 37 11 124767016 124767016 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 124767016 124767016 G A SNP ROBO4 ENST00000306534 human ensembl 74_37 -1 known missense c.212 p.P71L 0.990 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO4 HGNC ENSG00000154133 43 0 0 13 11 45.8333 TMEM45B 0 genome.wustl.edu 37 11 129724691 129724691 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 129724691 129724691 C T SNP TMEM45B ENST00000281441 human ensembl 74_37 +1 known missense c.365 p.A122V 0.989 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TMEM45B HGNC ENSG00000151715 122 0 0 77 20 20.6186 LDHA 0 genome.wustl.edu 37 11 18428916 18428916 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 18428916 18428916 G A SNP LDHA ENST00000396222 human ensembl 74_37 +1 putative missense c.818 p.C273Y 0.001 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH - no_errors LDHA HGNC ENSG00000134333 38 0 0 29 9 23.6842 RIC8A 0 genome.wustl.edu 37 11 212613 212613 + Splice_Site SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 212613 212613 A G SNP RIC8A ENST00000526104 human ensembl 74_37 +1 known splice_site c.1066-2 e7-2 1.000 - - - no_errors RIC8A HGNC ENSG00000177963 26 0 0 22 6 21.4286 FBXO3 0 genome.wustl.edu 37 11 33773099 33773099 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 33773099 33773099 C T SNP FBXO3 ENST00000265651 human ensembl 74_37 -1 known missense c.779 p.G260D 1.000 NULL pfam_ApaG_domain,pfam_F-box_dom,superfamily_ApaG_domain,superfamily_F-box_dom,smart_F-box_dom,smart_SMI1/KNR4_like_dom,pfscan_ApaG_domain,pfscan_F-box_dom - no_errors FBXO3 HGNC ENSG00000110429 50 0 0 54 12 18.1818 CAT 0 genome.wustl.edu 37 11 34485651 34485651 + Splice_Site SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 34485651 34485651 G T SNP CAT ENST00000241052 human ensembl 74_37 +1 known splice_site c.1196-1 e10-1 1.000 - - - no_errors CAT HGNC ENSG00000121691 218 1 0.456621 148 77 34.2222 ANO9 0 genome.wustl.edu 37 11 428612 428612 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 428612 428612 C T SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known missense c.1048 p.V350I 0.935 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 60 0 0 45 21 31.8182 CHST1 0 genome.wustl.edu 37 11 45671729 45671729 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 45671729 45671729 C T SNP CHST1 ENST00000308064 human ensembl 74_37 -1 known missense c.745 p.D249N 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST1 HGNC ENSG00000175264 133 0 0 95 45 32.1429 CKAP5 0 genome.wustl.edu 37 11 46842731 46842731 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 46842731 46842731 G A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.52 p.H18Y 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 253 0 0 147 74 33.4842 KBTBD4 0 genome.wustl.edu 37 11 47599113 47599113 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 47599113 47599113 A G SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known missense c.487 p.C163R 1.000 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 257 0 0 201 65 24.4361 OR51G2 0 genome.wustl.edu 37 11 4936206 4936206 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 4936206 4936206 C T SNP OR51G2 ENST00000322013 human ensembl 74_37 -1 known missense c.688 p.V230M 0.105 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 OR51G2 HGNC ENSG00000176893 71 0 0 84 5 5.61798 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 154 0 0 162 15 8.47458 UBQLNL 0 genome.wustl.edu 37 11 5536466 5536466 + Silent SNP A A T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 5536466 5536466 A T SNP UBQLNL ENST00000380184 human ensembl 74_37 -1 putative silent c.1206 p.S402 0.002 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors UBQLNL HGNC ENSG00000175518 144 0 0 99 40 28.777 OR52L1 0 genome.wustl.edu 37 11 6007639 6007639 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 6007639 6007639 A G SNP OR52L1 ENST00000332249 human ensembl 74_37 -1 known silent c.522 p.L174 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC ENSG00000183313 79 0 0 61 16 20.7792 CNGA4 0 genome.wustl.edu 37 11 6261463 6261463 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 6261463 6261463 G A SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known missense c.439 p.A147T 0.001 pfam_Ion_trans_dom pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 299 0 0 174 96 35.5556 ILK 0 genome.wustl.edu 37 11 6630785 6630785 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 6630785 6630785 C T SNP ILK ENST00000299421 human ensembl 74_37 +1 known silent c.771 p.C257 0.997 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_Integrin-linked_kinase,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Integrin-linked_kinase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ILK HGNC ENSG00000166333 221 0 0 146 62 29.8077 MRGPRD 0 genome.wustl.edu 37 11 68747740 68747740 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 68747740 68747740 A G SNP MRGPRD ENST00000309106 human ensembl 74_37 -1 known missense c.716 p.I239T 0.209 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRD HGNC ENSG00000172938 42 0 0 38 13 25.4902 CCND1 0 genome.wustl.edu 37 11 69465973 69465973 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 69465973 69465973 G A SNP CCND1 ENST00000227507 human ensembl 74_37 +1 known missense c.811 p.A271T 0.000 pfam_Cyclin_C-dom,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND1 HGNC ENSG00000110092 54 0 0 38 15 28.3019 ZNF215 0 genome.wustl.edu 37 11 6953704 6953704 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 6953704 6953704 C A SNP ZNF215 ENST00000278319 human ensembl 74_37 +1 known missense c.201 p.S67R 0.907 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF215 HGNC ENSG00000149054 121 0 0 96 13 11.9266 CHRDL2 0 genome.wustl.edu 37 11 74421903 74421903 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 74421903 74421903 G A SNP CHRDL2 ENST00000376324 human ensembl 74_37 -1 known missense c.269 p.A90V 1.000 NULL NULL - no_errors CHRDL2 HGNC ENSG00000054938 50 0 0 28 15 34.8837 UVRAG 0 genome.wustl.edu 37 11 75694509 75694509 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 75694509 75694509 C T SNP UVRAG ENST00000356136 human ensembl 74_37 +1 known missense c.778 p.R260W 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors UVRAG HGNC ENSG00000198382 74 0 0 43 24 35.8209 WNT11 0 genome.wustl.edu 37 11 75907667 75907667 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 75907667 75907667 C T SNP WNT11 ENST00000322563 human ensembl 74_37 -1 known missense c.179 p.R60H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT11 HGNC ENSG00000085741 85 0 0 69 36 34.2857 CEND1 0 genome.wustl.edu 37 11 788424 788424 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 788424 788424 C T SNP CEND1 ENST00000330106 human ensembl 74_37 -1 known silent c.153 p.P51 0.949 NULL NULL - no_errors CEND1 HGNC ENSG00000184524 111 1 0.892857 70 34 32.6923 PCF11 0 genome.wustl.edu 37 11 82877632 82877632 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 82877632 82877632 C T SNP PCF11 ENST00000298281 human ensembl 74_37 +1 known nonsense c.1693 p.R565* 0.606 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors PCF11 HGNC ENSG00000165494 77 0 0 81 32 28.3186 FAT3 0 genome.wustl.edu 37 11 92616283 92616283 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 92616283 92616283 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.12661 p.V4221I 0.996 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 183 0 0 97 46 32.1678 C11orf54 0 genome.wustl.edu 37 11 93494832 93494832 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 93494832 93494832 C T SNP C11orf54 ENST00000331239 human ensembl 74_37 +1 known missense c.926 p.T309M 1.000 NULL pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 134 0 0 99 36 26.6667 SESN3 0 genome.wustl.edu 37 11 94922973 94922973 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 94922973 94922973 T C SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known silent c.495 p.R165 0.890 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 83 0 0 55 23 29.4872 STAB2 0 genome.wustl.edu 37 12 104156095 104156095 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 104156095 104156095 T C SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.7403 p.I2468T 0.016 NULL pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 161 0 0 109 34 23.7762 NUAK1 0 genome.wustl.edu 37 12 106460931 106460931 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 106460931 106460931 C T SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.1635 p.M545I 0.908 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 NUAK1 HGNC ENSG00000074590 81 0 0 39 23 37.0968 UBE3B 0 genome.wustl.edu 37 12 109967832 109967832 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 109967832 109967832 G A SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.2765 p.R922H 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 132 0 0 101 48 32.2148 GIT2 0 genome.wustl.edu 37 12 110370843 110370843 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 110370843 110370843 G A SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known silent c.2220 p.Y740 0.990 pfam_GIT1_C pfam_GIT1_C,pfam_GIT_SHD,pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,smart_Ankyrin_rpt,smart_GIT_SHD,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors GIT2 HGNC ENSG00000139436 86 0 0 57 23 28.75 IFT81 0 genome.wustl.edu 37 12 110643263 110643263 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 110643263 110643263 C T SNP IFT81 ENST00000242591 human ensembl 74_37 +1 known missense c.1660 p.R554C 0.999 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 36 0 0 22 12 35.2941 OAS1 0 genome.wustl.edu 37 12 113348996 113348996 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 113348996 113348996 A G SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known missense c.610 p.K204E 1.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 82 0 0 61 25 29.0698 CCDC62 0 genome.wustl.edu 37 12 123270349 123270349 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 123270349 123270349 G A SNP CCDC62 ENST00000253079 human ensembl 74_37 +1 known silent c.480 p.T160 0.074 superfamily_Prefoldin superfamily_Prefoldin - no_errors CCDC62 HGNC ENSG00000130783 196 0 0 124 55 30.7263 EIF2B1 0 genome.wustl.edu 37 12 124106442 124106442 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 124106442 124106442 G A SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known missense c.779 p.A260V 0.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 45 0 0 31 14 31.1111 GOLGA3 0 genome.wustl.edu 37 12 133359063 133359063 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 133359063 133359063 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.3284 p.G1095D 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 160 0 0 107 33 23.5714 SOX5 0 genome.wustl.edu 37 12 23689454 23689454 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 23689454 23689454 G A SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1921 p.R641C 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 122 0 0 85 24 22.0183 FAR2 0 genome.wustl.edu 37 12 29469849 29469849 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 29469849 29469849 G A SNP FAR2 ENST00000182377 human ensembl 74_37 +1 known missense c.1031 p.S344N 1.000 NULL pfam_Male_sterile_NAD-bd,pfam_FAR,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_Polysac_CapD-like - no_errors FAR2 HGNC ENSG00000064763 337 0 0 207 106 33.8658 TEAD4 0 genome.wustl.edu 37 12 3104142 3104142 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 3104142 3104142 C T SNP TEAD4 ENST00000359864 human ensembl 74_37 +1 known silent c.210 p.D70 0.601 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD4 HGNC ENSG00000197905 151 0 0 114 61 34.8571 PUS7L 0 genome.wustl.edu 37 12 44148200 44148200 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 44148200 44148200 T C SNP PUS7L ENST00000344862 human ensembl 74_37 -1 known silent c.849 p.K283 0.724 superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7L HGNC ENSG00000129317 310 0 0 209 75 26.4085 ARID2 0 genome.wustl.edu 37 12 46285639 46285639 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 46285639 46285639 T C SNP ARID2 ENST00000334344 human ensembl 74_37 +1 known missense c.4999 p.C1667R 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 250 0 0 235 15 6 NDUFA9 0 genome.wustl.edu 37 12 4778941 4778941 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 4778941 4778941 T C SNP NDUFA9 ENST00000266544 human ensembl 74_37 +1 known missense c.758 p.V253A 0.966 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_NmrA - no_errors NDUFA9 HGNC ENSG00000139180 179 0 0 127 38 23.0303 KCNA6 0 genome.wustl.edu 37 12 4919240 4919240 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 4919240 4919240 G A SNP KCNA6 ENST00000280684 human ensembl 74_37 +1 known silent c.33 p.A11 0.991 prints_K_chnl_volt-dep_Kv1.6 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 45 0 0 36 9 20 TROAP 0 genome.wustl.edu 37 12 49724166 49724166 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 49724166 49724166 A G SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.1538 p.Q513R 0.557 NULL NULL - no_errors TROAP HGNC ENSG00000135451 220 0 0 132 48 26.6667 C1QL4 0 genome.wustl.edu 37 12 49729777 49729777 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 49729777 49729777 T C SNP C1QL4 ENST00000334221 human ensembl 74_37 -1 known missense c.484 p.M162V 0.999 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL4 HGNC ENSG00000186897 32 0 0 16 6 27.2727 FAM186B 0 genome.wustl.edu 37 12 49993929 49993929 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 49993929 49993929 C A SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known missense c.1494 p.E498D 1.000 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 78 0 0 49 26 34.6667 HOXC9 0 genome.wustl.edu 37 12 54394139 54394139 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 54394139 54394139 C T SNP HOXC9 ENST00000303450 human ensembl 74_37 +1 known missense c.167 p.A56V 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 HOXC9 HGNC ENSG00000180806 60 0 0 43 18 29.5082 DGKA 0 genome.wustl.edu 37 12 56332996 56332996 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 56332996 56332996 T C SNP DGKA ENST00000331886 human ensembl 74_37 +1 known silent c.501 p.I167 0.997 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 113 0 0 106 8 7.01754 ESYT1 0 genome.wustl.edu 37 12 56525096 56525096 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 56525096 56525096 T C SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.710 p.M237T 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 154 0 0 108 56 34.1463 NACA 0 genome.wustl.edu 37 12 57114329 57114329 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 57114329 57114329 T C SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.985 p.S329G 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 42 0 0 35 15 30 NACA 0 genome.wustl.edu 37 12 57114975 57114975 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 57114975 57114975 T C SNP NACA ENST00000454682 human ensembl 74_37 -1 known silent c.339 p.P113 1.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 37 0 0 28 15 34.8837 R3HDM2 0 genome.wustl.edu 37 12 57648686 57648686 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 57648686 57648686 G A SNP R3HDM2 ENST00000347140 human ensembl 74_37 -1 known missense c.2801 p.A934V 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 89 0 0 62 30 32.6087 PPM1H 0 genome.wustl.edu 37 12 63113972 63113972 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 63113972 63113972 C A SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known missense c.1052 p.R351M 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 180 0 0 136 31 18.5629 TNFRSF1A 0 genome.wustl.edu 37 12 6440184 6440184 + RNA SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 6440184 6440184 A G SNP TNFRSF1A ENST00000535038 human ensembl 74_37 -1 putative rna NULL NULL 0.021 - - - no_errors TNFRSF1A HGNC ENSG00000067182 17 0 0 4 5 55.5556 B4GALNT3 0 genome.wustl.edu 37 12 661272 661272 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 661272 661272 G T SNP B4GALNT3 ENST00000266383 human ensembl 74_37 +1 known missense c.1151 p.S384I 1.000 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC ENSG00000139044 175 0 0 122 49 28.655 TMBIM4 0 genome.wustl.edu 37 12 66531853 66531853 + Missense_Mutation SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 66531853 66531853 T A SNP TMBIM4 ENST00000358230 human ensembl 74_37 -1 known missense c.604 p.M202L 1.000 pfam_Bax_inhibitor_1-related pfam_Bax_inhibitor_1-related - no_errors TMBIM4 HGNC ENSG00000155957 156 0 0 87 53 37.8571 CHD4 0 genome.wustl.edu 37 12 6701626 6701626 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 6701626 6701626 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known missense c.2881 p.D961N 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 175 0 0 131 8 5.7554 CAND1 0 genome.wustl.edu 37 12 67696213 67696213 + Missense_Mutation SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 67696213 67696213 T A SNP CAND1 ENST00000545606 human ensembl 74_37 +1 known missense c.1111 p.F371I 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC ENSG00000111530 333 0 0 227 112 33.0383 CD163L1 0 genome.wustl.edu 37 12 7548934 7548934 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 7548934 7548934 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known missense c.1807 p.R603W 0.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 52 0 0 33 18 35.2941 NAV3 0 genome.wustl.edu 37 12 78583914 78583914 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 78583914 78583914 T G SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.6206 p.L2069R 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 107 0 0 103 12 10.4348 PZP 0 genome.wustl.edu 37 12 9301589 9301589 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 9301589 9301589 A G SNP PZP ENST00000261336 human ensembl 74_37 -1 known silent c.4428 p.D1476 0.000 superfamily_A-macroglobulin_rcpt-bd pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 104 0 0 62 24 27.907 ARGLU1 0 genome.wustl.edu 37 13 107219984 107219984 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 107219984 107219984 A G SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known missense c.284 p.L95P 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 118 0 0 103 39 27.4648 MYO16 0 genome.wustl.edu 37 13 109475609 109475609 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 109475609 109475609 C T SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.1014 p.P338 0.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 249 0 0 198 67 25.283 COL4A1 0 genome.wustl.edu 37 13 110838771 110838771 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 110838771 110838771 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.1858 p.A620T 0.001 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 316 1 0.315457 189 97 33.9161 F10 0 genome.wustl.edu 37 13 113783899 113783899 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 113783899 113783899 C T SNP F10 ENST00000375559 human ensembl 74_37 +1 known silent c.204 p.R68 0.075 pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain 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 147 0 0 97 42 30.2158 TMCO3 0 genome.wustl.edu 37 13 114188557 114188557 + Splice_Site SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 114188557 114188557 T C SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known splice_site c.1539+2 e8+2 1.000 - - - no_errors TMCO3 HGNC ENSG00000150403 118 0 0 83 46 35.6589 LNX2 0 genome.wustl.edu 37 13 28136741 28136741 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 28136741 28136741 G A SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known missense c.1033 p.R345W 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 152 0 0 113 56 33.1361 DNAJC15 0 genome.wustl.edu 37 13 43643080 43643080 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 43643080 43643080 C T SNP DNAJC15 ENST00000379221 human ensembl 74_37 +1 known missense c.175 p.R59W 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC15 HGNC ENSG00000120675 48 0 0 36 17 32.0755 COG3 0 genome.wustl.edu 37 13 46083903 46083903 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 46083903 46083903 G A SNP COG3 ENST00000349995 human ensembl 74_37 +1 known silent c.1671 p.T557 0.996 NULL pfam_COG_su3,superfamily_Cullin_repeat-like_dom - no_errors COG3 HGNC ENSG00000136152 277 0 0 156 83 34.728 DHRS12 0 genome.wustl.edu 37 13 52351200 52351200 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 52351200 52351200 C T SNP DHRS12 ENST00000444610 human ensembl 74_37 -1 known missense c.506 p.R169Q 1.000 pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR pfam_DH_sc/Rdtase_SDR,pfam_Epimerase_deHydtase,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors DHRS12 HGNC ENSG00000102796 96 0 0 57 30 34.4828 DOCK9 0 genome.wustl.edu 37 13 99481946 99481946 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 99481946 99481946 T C SNP DOCK9 ENST00000339416 human ensembl 74_37 -1 known missense c.4634 p.Q1545R 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC ENSG00000088387 16 0 0 22 3 12 SNORD114-15 0 genome.wustl.edu 37 14 101439032 101439032 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 101439032 101439032 G A SNP SNORD114-15 ENST00000364687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD114-15 HGNC ENSG00000201557 191 0 0 109 44 28.7582 EDDM3A 0 genome.wustl.edu 37 14 21216035 21216035 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 21216035 21216035 C T SNP EDDM3A ENST00000326842 human ensembl 74_37 +1 known missense c.296 p.A99V 0.003 superfamily_RNaseA_domain superfamily_RNaseA_domain - no_errors EDDM3A HGNC ENSG00000181562 73 0 0 46 15 24.5902 SLC25A21 0 genome.wustl.edu 37 14 37641501 37641501 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 37641501 37641501 C T SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.55 p.A19T 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 13 0 0 9 3 25 LRR1 0 genome.wustl.edu 37 14 50074337 50074337 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 50074337 50074337 C T SNP LRR1 ENST00000298288 human ensembl 74_37 +1 known nonsense c.502 p.R168* 0.991 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 116 0 0 60 20 25 TRIM9 0 genome.wustl.edu 37 14 51467459 51467459 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 51467459 51467459 G A SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1394 p.T465M 0.365 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 59 0 0 41 20 32.7869 DAAM1 0 genome.wustl.edu 37 14 59834294 59834294 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 59834294 59834294 C T SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.3004 p.R1002C 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 69 0 0 53 29 35.3659 SYNE2 0 genome.wustl.edu 37 14 64514742 64514742 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 64514742 64514742 T C SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.7246 p.S2416P 1.000 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 91 0 0 58 15 20.5479 SPTB 0 genome.wustl.edu 37 14 65253382 65253382 + Nonsense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 65253382 65253382 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known nonsense c.3301 p.Q1101* 0.981 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,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 SPTB HGNC ENSG00000070182 90 0 0 56 20 26.3158 ZFYVE26 0 genome.wustl.edu 37 14 68234521 68234521 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 68234521 68234521 G A SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.5690 p.S1897L 0.005 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 169 0 0 127 36 22.0859 ELMSAN1 0 genome.wustl.edu 37 14 74193673 74193673 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 74193673 74193673 C T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known missense c.2165 p.R722Q 0.999 pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 57 0 0 48 15 23.8095 GPATCH2L 0 genome.wustl.edu 37 14 76633039 76633039 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 76633039 76633039 T C SNP GPATCH2L ENST00000261530 human ensembl 74_37 +1 known silent c.696 p.T232 0.132 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 60 0 0 35 15 30 IRF2BPL 0 genome.wustl.edu 37 14 77492310 77492310 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 77492310 77492310 C T SNP IRF2BPL ENST00000238647 human ensembl 74_37 -1 known missense c.1826 p.R609Q 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BPL HGNC ENSG00000119669 18 0 0 19 6 24 NOXRED1 0 genome.wustl.edu 37 14 77889102 77889102 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 77889102 77889102 A G SNP NOXRED1 ENST00000380835 human ensembl 74_37 -1 known missense c.131 p.F44S 1.000 NULL NULL - no_errors NOXRED1 HGNC ENSG00000165555 298 0 0 207 98 32.1311 SPTLC2 0 genome.wustl.edu 37 14 78018519 78018519 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 78018519 78018519 G A SNP SPTLC2 ENST00000216484 human ensembl 74_37 -1 known missense c.1223 p.A408V 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SPTLC2 HGNC ENSG00000100596 44 0 0 37 13 26 PTPN21 0 genome.wustl.edu 37 14 88938739 88938739 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 88938739 88938739 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.2720 p.R907Q 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,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 PTPN21 HGNC ENSG00000070778 74 0 0 46 15 24.5902 TTC7B 0 genome.wustl.edu 37 14 91211166 91211166 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 91211166 91211166 G A SNP TTC7B ENST00000357056 human ensembl 74_37 -1 known silent c.546 p.I182 0.889 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 156 0 0 103 61 37.1951 BCL11B 0 genome.wustl.edu 37 14 99641482 99641482 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 99641482 99641482 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.1691 p.R564H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 23 0 0 13 7 35 SNORD115-21 0 genome.wustl.edu 37 15 25453235 25453235 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 25453235 25453235 G A SNP SNORD115-21 ENST00000362963 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors SNORD115-21 HGNC ENSG00000199833 356 0 0 238 109 31.4121 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42139856 42139856 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 42139856 42139856 G A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.2837 p.R946Q 0.911 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 73 0 0 56 25 30.8642 SPTBN5 0 genome.wustl.edu 37 15 42170721 42170721 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 42170721 42170721 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.3289 p.R1097C 0.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 27 0 0 26 9 25.7143 DUOX1 0 genome.wustl.edu 37 15 45433228 45433228 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 45433228 45433228 C T SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.1525 p.R509W 0.951 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 206 0 0 151 51 25.2475 ALDH1A2 0 genome.wustl.edu 37 15 58256130 58256130 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 58256130 58256130 G A SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.1039 p.R347C 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 185 0 0 104 38 26.7606 CSNK1G1 0 genome.wustl.edu 37 15 64496717 64496717 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 64496717 64496717 G A SNP CSNK1G1 ENST00000303052 human ensembl 74_37 -1 known missense c.922 p.R308W 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G1 HGNC ENSG00000169118 146 0 0 91 51 35.9155 NPTN 0 genome.wustl.edu 37 15 73879916 73879916 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 73879916 73879916 C T SNP NPTN ENST00000345330 human ensembl 74_37 -1 known missense c.655 p.V219I 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NPTN HGNC ENSG00000156642 80 0 0 67 19 22.093 C15orf59 0 genome.wustl.edu 37 15 74043456 74043456 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 74043456 74043456 C T SNP C15orf59 ENST00000379822 human ensembl 74_37 -1 known missense c.16 p.A6T 0.095 NULL superfamily_Polyketide_synth_docking - no_errors C15orf59 HGNC ENSG00000205363 62 0 0 49 25 33.7838 LMAN1L 0 genome.wustl.edu 37 15 75112400 75112400 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 75112400 75112400 T C SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known missense c.734 p.L245P 1.000 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 175 0 0 134 55 29.1005 SCAMP5 0 genome.wustl.edu 37 15 75309055 75309055 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 75309055 75309055 C T SNP SCAMP5 ENST00000562212 human ensembl 74_37 +1 known silent c.258 p.Y86 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 124 0 0 69 37 34.9057 SH2D7 0 genome.wustl.edu 37 15 78393576 78393576 + Silent SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 78393576 78393576 C A SNP SH2D7 ENST00000409568 human ensembl 74_37 +1 putative silent c.573 p.T191 0.116 NULL NULL - no_errors SH2D7 HGNC ENSG00000183476 27 0 0 23 13 36.1111 KIAA1199 0 genome.wustl.edu 37 15 81176682 81176682 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 81176682 81176682 C T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.784 p.H262Y 0.983 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 72 0 0 44 18 29.0323 AP3B2 0 genome.wustl.edu 37 15 83331474 83331474 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 83331474 83331474 G A SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known silent c.2748 p.G916 1.000 superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 32 0 0 28 10 26.3158 ALPK3 0 genome.wustl.edu 37 15 85400935 85400935 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 85400935 85400935 G A SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.3572 p.G1191E 0.027 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 103 0 0 65 44 40.367 TICRR 0 genome.wustl.edu 37 15 90168613 90168613 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 90168613 90168613 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.5072 p.A1691V 0.986 NULL NULL - no_errors TICRR HGNC ENSG00000140534 136 0 0 100 27 21.2598 ANPEP 0 genome.wustl.edu 37 15 90342507 90342507 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 90342507 90342507 C T SNP ANPEP ENST00000300060 human ensembl 74_37 -1 known missense c.1993 p.A665T 0.477 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ANPEP HGNC ENSG00000166825 71 0 0 50 16 24.2424 RHBDF1 0 genome.wustl.edu 37 16 115006 115006 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 115006 115006 T C SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.8 p.E3G 1.000 NULL pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 88 0 0 78 28 26.4151 PTX4 0 genome.wustl.edu 37 16 1536245 1536245 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 1536245 1536245 C T SNP PTX4 ENST00000447419 human ensembl 74_37 -1 known missense c.1132 p.V378M 0.954 pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors PTX4 HGNC ENSG00000251692 38 0 0 27 8 22.8571 MAPK8IP3 0 genome.wustl.edu 37 16 1818554 1818554 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 1818554 1818554 G A SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known silent c.3816 p.S1272 0.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 13 0 0 3 8 72.7273 CLN3 0 genome.wustl.edu 37 16 28488902 28488902 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 28488902 28488902 G T SNP CLN3 ENST00000359984 human ensembl 74_37 -1 known missense c.1252 p.L418M 0.389 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 125 1 0.793651 86 31 26.4957 RABEP2 0 genome.wustl.edu 37 16 28917352 28917352 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 28917352 28917352 G A SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known missense c.1411 p.R471W 1.000 pfam_Rabaptin_Rab5-bd_dom pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 14 0 0 6 6 50 SEZ6L2 0 genome.wustl.edu 37 16 29888645 29888645 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 29888645 29888645 G A SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.1856 p.P619L 0.975 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 48 0 0 28 13 31.7073 CLDN9 0 genome.wustl.edu 37 16 3063873 3063873 + Silent SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 3063873 3063873 G T SNP CLDN9 ENST00000445369 human ensembl 74_37 +1 known silent c.510 p.A170 0.000 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 68 0 0 50 30 37.5 SRCAP 0 genome.wustl.edu 37 16 30723591 30723591 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 30723591 30723591 G A SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known silent c.1824 p.T608 0.026 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 180 0 0 130 36 21.6867 SETD1A 0 genome.wustl.edu 37 16 30982823 30982823 + Silent SNP C C G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 30982823 30982823 C G SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known silent c.3141 p.S1047 0.001 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 118 0 0 82 39 32.2314 ADCY9 0 genome.wustl.edu 37 16 4016487 4016487 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 4016487 4016487 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.3351 p.A1117 0.026 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 101 0 0 78 26 25 ABCC11 0 genome.wustl.edu 37 16 48234332 48234332 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 48234332 48234332 C T SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.1937 p.R646H 0.657 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 61 0 0 43 15 25.8621 N4BP1 0 genome.wustl.edu 37 16 48577044 48577044 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 48577044 48577044 C T SNP N4BP1 ENST00000262384 human ensembl 74_37 -1 known missense c.2462 p.S821N 0.005 NULL pfam_RNase_Zc3h12 - no_errors N4BP1 HGNC ENSG00000102921 36 0 0 15 9 37.5 RBL2 0 genome.wustl.edu 37 16 53488589 53488589 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 53488589 53488589 T C SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known silent c.1014 p.Y338 0.999 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 108 0 0 102 32 23.8806 MT1JP 0 genome.wustl.edu 37 16 56670917 56670917 + RNA SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 56670917 56670917 T A SNP MT1JP ENST00000563395 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MT1JP HGNC ENSG00000255986 48 0 0 33 20 37.7358 CDH11 0 genome.wustl.edu 37 16 65006929 65006929 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 65006929 65006929 C T SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1268 p.R423H 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 CDH11 HGNC ENSG00000140937 72 0 0 60 32 34.7826 TERF2 0 genome.wustl.edu 37 16 69390851 69390851 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 69390851 69390851 C T SNP TERF2 ENST00000254942 human ensembl 74_37 -1 known missense c.1579 p.V527M 1.000 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom pfam_Telomere_rpt-bd_fac_dimer_dom,pfam_SANT/Myb,superfamily_Telomere_rpt-bd_fac_dimer_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Telomere_repeat-bd-1/2,pfscan_Myb-like_dom - no_errors TERF2 HGNC ENSG00000132604 226 1 0.440529 142 63 30.7317 MTSS1L 0 genome.wustl.edu 37 16 70708346 70708346 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 70708346 70708346 G A SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.916 p.R306C 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 50 0 0 36 12 25 PSMD7 0 genome.wustl.edu 37 16 74339301 74339301 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 74339301 74339301 C T SNP PSMD7 ENST00000219313 human ensembl 74_37 +1 known silent c.645 p.V215 0.998 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 61 0 0 41 19 31.6667 METRN 0 genome.wustl.edu 37 16 767234 767234 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 767234 767234 C T SNP METRN ENST00000568223 human ensembl 74_37 +1 known silent c.729 p.G243 0.952 NULL NULL - no_errors METRN HGNC ENSG00000103260 16 0 0 4 4 50 CDH15 0 genome.wustl.edu 37 16 89258129 89258129 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 89258129 89258129 C A SNP CDH15 ENST00000289746 human ensembl 74_37 +1 known missense c.1442 p.P481H 0.995 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH15 HGNC ENSG00000129910 31 0 0 17 4 19.0476 SPG7 0 genome.wustl.edu 37 16 89592837 89592837 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 89592837 89592837 G T SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known missense c.719 p.R240M 1.000 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,pfam_Pept_M41_FtsH_extracell,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors SPG7 HGNC ENSG00000197912 171 0 0 142 42 22.8261 DBNDD1 0 genome.wustl.edu 37 16 90075763 90075763 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 90075763 90075763 G A SNP DBNDD1 ENST00000568838 human ensembl 74_37 -1 known missense c.467 p.T156M 0.001 pfam_Dysbindin pfam_Dysbindin - no_errors DBNDD1 HGNC ENSG00000003249 199 0 0 124 63 33.6898 DNAH9 0 genome.wustl.edu 37 17 11520904 11520904 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 11520904 11520904 C T SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known silent c.1081 p.L361 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 107 0 0 61 21 25.6098 PMP22 0 genome.wustl.edu 37 17 15134393 15134393 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 15134393 15134393 C T SNP PMP22 ENST00000494511 human ensembl 74_37 -1 novel missense c.145 p.V49M 0.993 NULL NULL - no_errors PMP22 HGNC ENSG00000109099 61 0 0 43 21 32.8125 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 144 0 0 135 39 22.4138 MPRIP 0 genome.wustl.edu 37 17 17078646 17078646 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 17078646 17078646 C T SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known missense c.2629 p.R877W 1.000 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 72 0 0 42 15 26.3158 SLC5A10 0 genome.wustl.edu 37 17 18923663 18923663 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 18923663 18923663 C T SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known silent c.1758 p.H586 0.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 220 0 0 179 59 24.7899 METTL16 0 genome.wustl.edu 37 17 2318761 2318761 + RNA SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 2318761 2318761 A G SNP METTL16 ENST00000571332 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors METTL16 HGNC ENSG00000127804 36 0 0 31 13 29.5455 NLK 0 genome.wustl.edu 37 17 26449711 26449711 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 26449711 26449711 A G SNP NLK ENST00000407008 human ensembl 74_37 +1 known missense c.541 p.R181G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 150 0 0 96 37 27.8195 FOXN1 0 genome.wustl.edu 37 17 26854350 26854350 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 26854350 26854350 T C SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known missense c.670 p.Y224H 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 41 0 0 29 8 21.6216 OR3A2 0 genome.wustl.edu 37 17 3181654 3181654 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 3181654 3181654 C A SNP OR3A2 ENST00000408891 human ensembl 74_37 -1 known missense c.576 p.Q192H 0.473 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR3A2 HGNC ENSG00000221882 124 0 0 67 29 30.2083 TMEM132E 0 genome.wustl.edu 37 17 32964419 32964419 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 32964419 32964419 G A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.2123 p.R708H 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 113 0 0 83 35 29.661 HMGB1P24 0 genome.wustl.edu 37 17 35501167 35501167 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 35501167 35501167 C T SNP HMGB1P24 ENST00000531465 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors HMGB1P24 HGNC ENSG00000254982 172 0 0 113 38 25.1656 FBXO47 0 genome.wustl.edu 37 17 37099048 37099048 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 37099048 37099048 C T SNP FBXO47 ENST00000378079 human ensembl 74_37 -1 known missense c.1066 p.V356I 0.133 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 125 0 0 86 30 25.8621 WNK4 0 genome.wustl.edu 37 17 40940150 40940150 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 40940150 40940150 T C SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known silent c.1866 p.A622 0.973 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 523 0 0 333 137 29.1489 BECN1 0 genome.wustl.edu 37 17 40970864 40970864 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 40970864 40970864 T G SNP BECN1 ENST00000361523 human ensembl 74_37 -1 known missense c.292 p.T98P 1.000 NULL pfam_Beclin_fam,superfamily_Translin - no_errors BECN1 HGNC ENSG00000126581 78 0 0 49 21 30 AOC2 0 genome.wustl.edu 37 17 40997723 40997723 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 40997723 40997723 G T SNP AOC2 ENST00000253799 human ensembl 74_37 +1 known missense c.1080 p.Q360H 0.998 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 253 0 0 165 45 21.4286 ARL4D 0 genome.wustl.edu 37 17 41477611 41477611 + Missense_Mutation SNP G G C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 41477611 41477611 G C SNP ARL4D ENST00000320033 human ensembl 74_37 +1 known missense c.511 p.V171L 0.908 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL4D HGNC ENSG00000175906 14 0 0 9 9 50 DHX8 0 genome.wustl.edu 37 17 41568548 41568548 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 41568548 41568548 C A SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.323 p.P108H 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 86 0 0 58 22 27.5 GPATCH8 0 genome.wustl.edu 37 17 42475142 42475142 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 42475142 42475142 C T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.4303 p.A1435T 0.994 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 17 0 0 18 6 25 FMNL1 0 genome.wustl.edu 37 17 43314678 43314678 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 43314678 43314678 G A SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.754 p.A252T 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 62 0 0 51 35 40.6977 FAM117A 0 genome.wustl.edu 37 17 47799955 47799955 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 47799955 47799955 G A SNP FAM117A ENST00000240364 human ensembl 74_37 -1 known missense c.368 p.T123M 1.000 NULL NULL - no_errors FAM117A HGNC ENSG00000121104 37 0 0 32 6 15.7895 MINK1 0 genome.wustl.edu 37 17 4796057 4796057 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 4796057 4796057 G A SNP MINK1 ENST00000355280 human ensembl 74_37 +1 known missense c.2305 p.V769M 0.993 NULL pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MINK1 HGNC ENSG00000141503 27 0 0 17 11 39.2857 ACSF2 0 genome.wustl.edu 37 17 48539865 48539865 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 48539865 48539865 C T SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known silent c.711 p.S237 0.001 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 84 0 0 56 15 21.1268 BZRAP1 0 genome.wustl.edu 37 17 56389796 56389796 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 56389796 56389796 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.2386 p.R796C 0.049 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 35 0 0 30 14 31.8182 HSF5 0 genome.wustl.edu 37 17 56565282 56565282 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 56565282 56565282 G A SNP HSF5 ENST00000323777 human ensembl 74_37 -1 known silent c.354 p.R118 0.939 pfam_HSF_DNA-bd,smart_HSF_DNA-bd pfam_HSF_DNA-bd,smart_HSF_DNA-bd - no_errors HSF5 HGNC ENSG00000176160 42 0 0 22 5 18.5185 ENSG00000263887 0 genome.wustl.edu 37 17 60366066 60366066 + RNA SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 60366066 60366066 T C SNP ENSG00000263887 ENST00000602493 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-51L5.5 Clone_based_vega_gene ENSG00000263887 77 0 0 60 13 17.8082 MIR633 0 genome.wustl.edu 37 17 61021590 61021590 + RNA SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 61021590 61021590 T A SNP MIR633 ENST00000384821 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors MIR633 HGNC ENSG00000207552 33 0 0 26 8 23.5294 PITPNM3 0 genome.wustl.edu 37 17 6367557 6367557 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 6367557 6367557 T C SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.2089 p.I697V 0.909 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 145 1 0.684932 88 35 28.4553 PITPNM3 0 genome.wustl.edu 37 17 6381912 6381912 + Nonsense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 6381912 6381912 G T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known nonsense c.732 p.Y244* 0.952 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 48 0 0 39 23 37.0968 SDK2 0 genome.wustl.edu 37 17 71394205 71394205 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 71394205 71394205 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.3323 p.A1108V 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 39 0 0 28 7 20 NLGN2 0 genome.wustl.edu 37 17 7320661 7320661 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 7320661 7320661 C T SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.2051 p.A684V 1.000 prints_Neuroligin pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 29 0 0 26 17 39.5349 CASKIN2 0 genome.wustl.edu 37 17 73498994 73498994 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 73498994 73498994 C T SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known missense c.2161 p.G721S 0.001 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 53 0 0 38 21 35.5932 ZBTB4 0 genome.wustl.edu 37 17 7366997 7366997 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 7366997 7366997 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.1304 p.P435L 0.988 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 ZBTB4 HGNC ENSG00000174282 200 0 0 134 38 22.093 TP53 0 genome.wustl.edu 37 17 7578263 7578263 + Nonsense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 7578263 7578263 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.586 p.R196* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 68 0 0 45 16 26.2295 DNAH2 0 genome.wustl.edu 37 17 7674152 7674152 + Silent SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 7674152 7674152 C A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known silent c.4263 p.A1421 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 228 0 0 156 77 33.0472 LSMD1 0 genome.wustl.edu 37 17 7760123 7760123 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 7760123 7760123 C T SNP LSMD1 ENST00000333775 human ensembl 74_37 -1 known missense c.448 p.A150T 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors LSMD1 HGNC ENSG00000183011 166 0 0 124 41 24.8485 RNF213 0 genome.wustl.edu 37 17 78286879 78286879 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 78286879 78286879 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.2723 p.A908V 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 117 0 0 77 41 34.7458 TBCD 0 genome.wustl.edu 37 17 80714084 80714084 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 80714084 80714084 G A SNP TBCD ENST00000355528 human ensembl 74_37 +1 known silent c.228 p.P76 0.796 superfamily_ARM-type_fold pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold - no_errors TBCD HGNC ENSG00000141556 23 0 0 10 7 41.1765 USP14 0 genome.wustl.edu 37 18 211160 211160 + Missense_Mutation SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 211160 211160 A C SNP USP14 ENST00000261601 human ensembl 74_37 +1 known missense c.1361 p.K454T 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,smart_Ubiquitin_dom,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 73 0 0 51 21 29.1667 GAREM 0 genome.wustl.edu 37 18 29867460 29867460 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 29867460 29867460 T C SNP GAREM ENST00000269209 human ensembl 74_37 -1 known missense c.1100 p.H367R 0.998 NULL superfamily_SAM/pointed - no_errors GAREM HGNC ENSG00000141441 120 0 0 68 37 35.2381 SETBP1 0 genome.wustl.edu 37 18 42531918 42531918 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 42531918 42531918 T C SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known silent c.2613 p.I871 0.042 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 52 0 0 35 17 32.6923 CTIF 0 genome.wustl.edu 37 18 46385731 46385731 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 46385731 46385731 G A SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1604 p.R535Q 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 163 0 0 123 60 32.7869 DCC 0 genome.wustl.edu 37 18 50278508 50278508 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 50278508 50278508 T C SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.176 p.L59P 0.993 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,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 DCC HGNC ENSG00000187323 72 0 0 52 29 35.8025 ZNF407 0 genome.wustl.edu 37 18 72776341 72776341 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 72776341 72776341 G A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.6664 p.V2222M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 9 0 0 10 7 41.1765 ZNF236 0 genome.wustl.edu 37 18 74649233 74649233 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 74649233 74649233 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.4710 p.T1570 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 51 0 0 35 10 22.2222 TXNDC2 0 genome.wustl.edu 37 18 9886137 9886137 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 9886137 9886137 G A SNP TXNDC2 ENST00000426718 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNDC2 HGNC ENSG00000168454 24 0 0 17 11 39.2857 PDE4A 0 genome.wustl.edu 37 19 10559819 10559819 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 10559819 10559819 A G SNP PDE4A ENST00000352831 human ensembl 74_37 +1 known missense c.613 p.S205G 0.997 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4A HGNC ENSG00000065989 26 0 0 23 2 8 TNPO2 0 genome.wustl.edu 37 19 12821569 12821569 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 12821569 12821569 G A SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.1136 p.A379V 0.991 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 26 0 0 19 7 26.9231 EMR3 0 genome.wustl.edu 37 19 14736376 14736376 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 14736376 14736376 G A SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known silent c.1848 p.I616 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_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_EMR1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 243 0 0 165 64 27.9476 CYP4F2 0 genome.wustl.edu 37 19 15989624 15989624 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 15989624 15989624 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1520 p.R507H 0.992 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 CYP4F2 HGNC ENSG00000186115 64 0 0 33 11 25 CPAMD8 0 genome.wustl.edu 37 19 17015120 17015120 + Silent SNP C C G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 17015120 17015120 C G SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known silent c.4308 p.L1436 0.997 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 74 0 0 68 16 19.0476 CPAMD8 0 genome.wustl.edu 37 19 17015121 17015121 + Missense_Mutation SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 17015121 17015121 A C SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.4307 p.L1436R 0.998 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 76 0 0 72 16 18.1818 NCAN 0 genome.wustl.edu 37 19 19338902 19338902 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 19338902 19338902 A G SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.2473 p.T825A 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_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,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 98 0 0 65 35 35 LMNB2 0 genome.wustl.edu 37 19 2435142 2435142 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 2435142 2435142 C T SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.712 p.E238K 1.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 55 0 0 33 15 31.25 WTIP 0 genome.wustl.edu 37 19 34991049 34991049 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 34991049 34991049 C T SNP WTIP ENST00000270288 human ensembl 74_37 +1 known silent c.1840 p.L614 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors WTIP HGNC ENSG00000142279 36 0 0 23 17 42.5 MAG 0 genome.wustl.edu 37 19 35793406 35793406 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 35793406 35793406 G A SNP MAG ENST00000392213 human ensembl 74_37 +1 known silent c.1026 p.T342 0.001 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MAG HGNC ENSG00000105695 84 0 0 47 29 38.1579 TMEM147 0 genome.wustl.edu 37 19 36038232 36038232 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 36038232 36038232 C T SNP TMEM147 ENST00000222284 human ensembl 74_37 +1 known silent c.558 p.F186 0.982 NULL pfam_DUF2053_membrane - no_errors TMEM147 HGNC ENSG00000105677 116 0 0 101 44 30.3448 WDR62 0 genome.wustl.edu 37 19 36558338 36558338 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 36558338 36558338 A G SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.692 p.E231G 0.685 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 137 0 0 85 36 29.7521 WDR62 0 genome.wustl.edu 37 19 36595830 36595830 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 36595830 36595830 C T SNP WDR62 ENST00000401500 human ensembl 74_37 +1 known missense c.4472 p.P1491L 0.783 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR62 HGNC ENSG00000075702 31 0 0 20 8 28.5714 ZNF571 0 genome.wustl.edu 37 19 38055639 38055639 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 38055639 38055639 C A SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known missense c.1691 p.G564V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF571 HGNC ENSG00000180479 109 1 0.909091 82 27 24.7706 SARS2 0 genome.wustl.edu 37 19 39410406 39410406 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 39410406 39410406 C T SNP SARS2 ENST00000600042 human ensembl 74_37 -1 known missense c.761 p.R254H 0.005 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 pirsf_Ser-tRNA-ligase_type_1,pfam_aa-tRNA-synt_IIb_cons-dom,superfamily_tRNA-bd_arm,prints_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,tigrfam_Ser-tRNA-ligase_type_1 - no_errors SARS2 HGNC ENSG00000104835 74 0 0 45 26 36.6197 NCCRP1 0 genome.wustl.edu 37 19 39691287 39691287 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 39691287 39691287 G A SNP NCCRP1 ENST00000339852 human ensembl 74_37 +1 known missense c.719 p.G240D 0.952 pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom - no_errors NCCRP1 HGNC ENSG00000188505 487 0 0 272 141 34.1404 IFNL3 0 genome.wustl.edu 37 19 39734754 39734754 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 39734754 39734754 G A SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known missense c.302 p.T101M 0.583 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 79 0 0 47 22 31.8841 FCGBP 0 genome.wustl.edu 37 19 40382380 40382380 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 40382380 40382380 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.10506 p.G3502 0.988 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 28 0 0 28 5 15.1515 SPTBN4 0 genome.wustl.edu 37 19 40996063 40996063 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 40996063 40996063 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.403 p.V135M 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 SPTBN4 HGNC ENSG00000160460 67 0 0 63 33 34.375 CIC 0 genome.wustl.edu 37 19 42795129 42795129 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 42795129 42795129 G A SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2209 p.A737T 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 66 0 0 42 30 41.6667 ZNF285 0 genome.wustl.edu 37 19 44892073 44892073 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 44892073 44892073 C T SNP ZNF285 ENST00000330997 human ensembl 74_37 -1 known missense c.334 p.A112T 0.076 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 ZNF285 HGNC ENSG00000267508 206 0 0 144 63 30.4348 IGFL3 0 genome.wustl.edu 37 19 46627291 46627291 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 46627291 46627291 G A SNP IGFL3 ENST00000341415 human ensembl 74_37 -1 known missense c.202 p.R68C 0.001 NULL NULL - no_errors IGFL3 HGNC ENSG00000188624 277 0 0 242 14 5.46875 DPP9 0 genome.wustl.edu 37 19 4704312 4704312 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 4704312 4704312 G A SNP DPP9 ENST00000262960 human ensembl 74_37 -1 known missense c.431 p.T144M 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors DPP9 HGNC ENSG00000142002 128 0 0 70 38 35.1852 GLTSCR2 0 genome.wustl.edu 37 19 48254334 48254334 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 48254334 48254334 C T SNP GLTSCR2 ENST00000246802 human ensembl 74_37 +1 known missense c.568 p.R190W 0.981 pfam_P60-like,pirsf_Gltscr2 pfam_P60-like,pirsf_Gltscr2 - no_errors GLTSCR2 HGNC ENSG00000105373 18 0 0 12 6 33.3333 UHRF1 0 genome.wustl.edu 37 19 4941597 4941597 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 4941597 4941597 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 24 0 0 28 6 17.6471 TRPM4 0 genome.wustl.edu 37 19 49685882 49685882 + Silent SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 49685882 49685882 G T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.1311 p.R437 0.997 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 72 0 0 59 23 28.0488 SLC6A16 0 genome.wustl.edu 37 19 49794007 49794007 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 49794007 49794007 G A SNP SLC6A16 ENST00000335875 human ensembl 74_37 -1 known missense c.1796 p.T599M 0.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A16 HGNC ENSG00000063127 28 0 0 21 12 36.3636 SCAF1 0 genome.wustl.edu 37 19 50156263 50156263 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 50156263 50156263 C T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.2617 p.R873C 1.000 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 41 0 0 23 13 36.1111 IL4I1 0 genome.wustl.edu 37 19 50393802 50393802 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 50393802 50393802 G A SNP IL4I1 ENST00000341114 human ensembl 74_37 -1 known silent c.895 p.L299 0.997 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors IL4I1 HGNC ENSG00000104951 24 0 0 17 4 19.0476 SIGLEC16 0 genome.wustl.edu 37 19 50473279 50473279 + RNA SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 50473279 50473279 A C SNP SIGLEC16 ENST00000602139 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIGLEC16 HGNC ENSG00000161643 34 0 0 27 12 30.7692 LRRC4B 0 genome.wustl.edu 37 19 51021562 51021562 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 51021562 51021562 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1408 p.G470S 0.344 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 22 0 0 12 12 50 SHANK1 0 genome.wustl.edu 37 19 51219975 51219975 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 51219975 51219975 C T SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.202 p.A68T 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 113 0 0 71 32 31.068 KLK14 0 genome.wustl.edu 37 19 51582715 51582715 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 51582715 51582715 T G SNP KLK14 ENST00000156499 human ensembl 74_37 -1 known missense c.505 p.S169R 0.953 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK14 HGNC ENSG00000129437 32 0 0 22 5 18.5185 MIR525 0 genome.wustl.edu 37 19 54200863 54200863 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 54200863 54200863 C T SNP MIR525 ENST00000384978 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors MIR525 HGNC ENSG00000207711 54 0 0 37 10 21.2766 LILRB5 0 genome.wustl.edu 37 19 54760565 54760565 + Missense_Mutation SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 54760565 54760565 A C SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.142 p.W48G 0.780 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 223 0 0 176 72 29.0323 ZNF582 0 genome.wustl.edu 37 19 56896019 56896019 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 56896019 56896019 T G SNP ZNF582 ENST00000301310 human ensembl 74_37 -1 known missense c.767 p.E256A 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 ZNF582 HGNC ENSG00000018869 91 0 0 40 28 41.1765 ZBTB45 0 genome.wustl.edu 37 19 59028872 59028872 + Missense_Mutation SNP A A T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 59028872 59028872 A T SNP ZBTB45 ENST00000354590 human ensembl 74_37 -1 known missense c.169 p.F57I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like 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 72 0 0 32 19 37.2549 HCN2 0 genome.wustl.edu 37 19 605189 605189 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 605189 605189 G A SNP HCN2 ENST00000251287 human ensembl 74_37 +1 known silent c.1185 p.P395 0.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN2 HGNC ENSG00000099822 90 0 0 47 37 44.0476 XAB2 0 genome.wustl.edu 37 19 7690872 7690872 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 7690872 7690872 T C SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.716 p.N239S 0.956 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 77 0 0 49 24 32.8767 PCP2 0 genome.wustl.edu 37 19 7697386 7697386 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 7697386 7697386 C T SNP PCP2 ENST00000311069 human ensembl 74_37 -1 known missense c.184 p.E62K 0.990 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors PCP2 HGNC ENSG00000174788 152 0 0 113 41 26.6234 ELANE 0 genome.wustl.edu 37 19 852928 852928 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 852928 852928 G A SNP ELANE ENST00000263621 human ensembl 74_37 +1 known silent c.120 p.A40 0.614 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 ELANE HGNC ENSG00000197561 32 0 0 17 14 45.1613 OR7D4 0 genome.wustl.edu 37 19 9325158 9325158 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 9325158 9325158 G A SNP OR7D4 ENST00000308682 human ensembl 74_37 -1 known missense c.356 p.A119V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 97 0 0 58 27 31.7647 GCC2 0 genome.wustl.edu 37 2 109116015 109116015 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 109116015 109116015 A G SNP GCC2 ENST00000309863 human ensembl 74_37 +1 known missense c.4789 p.K1597E 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 69 0 0 68 15 18.0723 TMEM87B 0 genome.wustl.edu 37 2 112832491 112832491 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 112832491 112832491 T C SNP TMEM87B ENST00000283206 human ensembl 74_37 +1 known silent c.453 p.N151 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 41 0 0 17 9 34.6154 TMEM177 0 genome.wustl.edu 37 2 120438597 120438597 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 120438597 120438597 G A SNP TMEM177 ENST00000272521 human ensembl 74_37 +1 known silent c.168 p.P56 0.000 NULL NULL - no_errors TMEM177 HGNC ENSG00000144120 294 0 0 236 101 29.9703 TUBA3D 0 genome.wustl.edu 37 2 132237023 132237023 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 132237023 132237023 C T SNP TUBA3D ENST00000321253 human ensembl 74_37 +1 known silent c.369 p.R123 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_Tubulin,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC ENSG00000075886 219 0 0 146 58 28.4314 LOC150776 0 genome.wustl.edu 37 2 132277231 132277231 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 132277231 132277231 C T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 50 0 0 36 4 10 MCM6 0 genome.wustl.edu 37 2 136602247 136602247 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 136602247 136602247 G A SNP MCM6 ENST00000264156 human ensembl 74_37 -1 known silent c.2217 p.D739 0.995 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM6,prints_MCM_DNA-dep_ATPase - no_errors MCM6 HGNC ENSG00000076003 164 0 0 120 43 26.3804 RIF1 0 genome.wustl.edu 37 2 152324577 152324577 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 152324577 152324577 C T SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.6664 p.R2222W 0.965 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 124 0 0 77 35 31.25 PLA2R1 0 genome.wustl.edu 37 2 160798419 160798419 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 160798419 160798419 T C SNP PLA2R1 ENST00000283243 human ensembl 74_37 -1 known missense c.4262 p.Y1421C 0.962 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 95 0 0 53 22 29.3333 XIRP2 0 genome.wustl.edu 37 2 168100214 168100214 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 168100214 168100214 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2312 p.R771Q 1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 123 0 0 70 26 27.0833 LRP2 0 genome.wustl.edu 37 2 170059292 170059292 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 170059292 170059292 C A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.8183 p.G2728V 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 164 0 0 139 9 6.08108 SMC6 0 genome.wustl.edu 37 2 17847726 17847726 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 17847726 17847726 C T SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.3200 p.R1067H 0.774 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 49 0 0 29 5 14.7059 TTN 0 genome.wustl.edu 37 2 179395182 179395182 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 179395182 179395182 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.98456 p.S32819L 0.531 superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 147 0 0 84 46 35.3846 TTN 0 genome.wustl.edu 37 2 179667001 179667001 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 179667001 179667001 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.159 p.G53 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 88 0 0 57 19 25 SPATS2L 0 genome.wustl.edu 37 2 201284108 201284108 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 201284108 201284108 G A SNP SPATS2L ENST00000409755 human ensembl 74_37 +1 known missense c.424 p.E142K 0.964 pfam_DUF1387 pfam_DUF1387,superfamily_UBA-like - no_errors SPATS2L HGNC ENSG00000196141 25 0 0 26 6 18.75 CASP8 0 genome.wustl.edu 37 2 202131514 202131514 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 202131514 202131514 G T SNP CASP8 ENST00000358485 human ensembl 74_37 +1 known missense c.482 p.R161M 1.000 pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED pfam_DED,pfam_Pept_C14_caspase,superfamily_DEATH-like_dom,smart_DED,smart_Pept_C14A_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP8 HGNC ENSG00000064012 45 0 0 45 19 29.6875 SDC1 0 genome.wustl.edu 37 2 20402399 20402399 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 20402399 20402399 G A SNP SDC1 ENST00000482879 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SDC1 HGNC ENSG00000115884 58 0 0 34 26 43.3333 C2orf43 0 genome.wustl.edu 37 2 20990057 20990057 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 20990057 20990057 C T SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known missense c.256 p.A86T 0.000 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 200 0 0 142 83 36.8889 C2orf43 0 genome.wustl.edu 37 2 21001136 21001136 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 21001136 21001136 G A SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known missense c.88 p.P30S 1.000 NULL pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 126 0 0 106 43 28.8591 IHH 0 genome.wustl.edu 37 2 219920518 219920518 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 219920518 219920518 G A SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.647 p.A216V 0.136 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 49 0 0 40 22 35.4839 SPEG 0 genome.wustl.edu 37 2 220344783 220344783 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 220344783 220344783 T C SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.5263 p.Y1755H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_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 121 0 0 70 28 28.5714 OBSL1 0 genome.wustl.edu 37 2 220420875 220420875 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 220420875 220420875 G A SNP OBSL1 ENST00000265318 human ensembl 74_37 -1 known missense c.4076 p.T1359M 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 29 0 0 21 11 34.375 MOGAT1 0 genome.wustl.edu 37 2 223553100 223553100 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 223553100 223553100 A G SNP MOGAT1 ENST00000446656 human ensembl 74_37 +1 known missense c.132 p.I44M 0.000 pfam_DAGAT pfam_DAGAT - no_errors MOGAT1 HGNC ENSG00000124003 30 0 0 14 4 22.2222 DNAJB3 0 genome.wustl.edu 37 2 234652578 234652578 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 234652578 234652578 C T SNP DNAJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DNAJB3 HGNC ENSG00000227802 30 0 0 26 13 33.3333 COL6A3 0 genome.wustl.edu 37 2 238242065 238242065 + RNA SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 238242065 238242065 T C SNP COL6A3 ENST00000493608 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors COL6A3 HGNC ENSG00000163359 56 0 0 30 16 34.7826 ANO7 0 genome.wustl.edu 37 2 242129505 242129505 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 242129505 242129505 G T SNP ANO7 ENST00000274979 human ensembl 74_37 +1 known missense c.189 p.E63D 0.139 NULL pfam_Anoctamin - no_errors ANO7 HGNC ENSG00000146205 9 0 0 9 6 40 KIF3C 0 genome.wustl.edu 37 2 26174773 26174773 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 26174773 26174773 A G SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1891 p.Y631H 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 KIF3C HGNC ENSG00000084731 134 0 0 82 56 40.5797 IFT172 0 genome.wustl.edu 37 2 27695182 27695182 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 27695182 27695182 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.1459 p.R487C 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 108 0 0 66 22 25 GALNT14 0 genome.wustl.edu 37 2 31154985 31154985 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 31154985 31154985 C T SNP GALNT14 ENST00000349752 human ensembl 74_37 -1 known missense c.1007 p.R336Q 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 GALNT14 HGNC ENSG00000158089 136 0 0 88 42 32.3077 RASGRP3 0 genome.wustl.edu 37 2 33783395 33783395 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 33783395 33783395 T C SNP RASGRP3 ENST00000402538 human ensembl 74_37 +1 known missense c.1697 p.L566P 0.998 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP3 HGNC ENSG00000152689 47 0 0 28 9 24.3243 OXER1 0 genome.wustl.edu 37 2 42990108 42990108 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 42990108 42990108 T C SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known missense c.1212 p.I404M 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 105 0 0 79 30 27.5229 GPR75 0 genome.wustl.edu 37 2 54081206 54081206 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 54081206 54081206 G A SNP GPR75 ENST00000394705 human ensembl 74_37 -1 known missense c.688 p.R230W 0.951 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR75 HGNC ENSG00000119737 110 0 0 76 35 31.5315 C2orf42 0 genome.wustl.edu 37 2 70392254 70392254 + Silent SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 70392254 70392254 C A SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known silent c.1323 p.L441 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 163 0 0 115 40 25.8065 C2orf42 0 genome.wustl.edu 37 2 70408792 70408792 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 70408792 70408792 T C SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known missense c.326 p.Q109R 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 76 0 0 50 21 29.5775 DYSF 0 genome.wustl.edu 37 2 71766292 71766292 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 71766292 71766292 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.1496 p.R499H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 102 0 0 74 30 28.8462 KDM3A 0 genome.wustl.edu 37 2 86683981 86683981 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 86683981 86683981 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.735 p.H245 0.999 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 107 0 0 91 32 26.0163 ANKEF1 0 genome.wustl.edu 37 20 10033880 10033880 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 10033880 10033880 C A SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known missense c.1991 p.P664H 0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 143 0 0 76 38 33.3333 ANKEF1 0 genome.wustl.edu 37 20 10036224 10036224 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 10036224 10036224 G T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known missense c.2247 p.E749D 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 85 0 0 49 33 40.2439 ACTL10 0 genome.wustl.edu 37 20 32255583 32255583 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 32255583 32255583 G A SNP ACTL10 ENST00000330271 human ensembl 74_37 +1 putative missense c.280 p.D94N 0.979 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTL10 HGNC ENSG00000182584 51 0 0 28 11 28.2051 DLGAP4 0 genome.wustl.edu 37 20 35060141 35060141 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 35060141 35060141 C T SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.21 p.S7 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 58 0 0 23 11 32.3529 ZNFX1 0 genome.wustl.edu 37 20 47865975 47865975 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 47865975 47865975 G T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.3586 p.L1196I 0.984 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 244 0 0 161 83 34.0164 PTGIS 0 genome.wustl.edu 37 20 48129730 48129730 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 48129730 48129730 G T SNP PTGIS ENST00000244043 human ensembl 74_37 -1 known missense c.1093 p.L365M 0.565 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 114 0 0 88 32 26.6667 NFATC2 0 genome.wustl.edu 37 20 50139969 50139969 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 50139969 50139969 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.811 p.R271C 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 38 0 0 21 13 38.2353 FAM217B 0 genome.wustl.edu 37 20 58519082 58519082 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 58519082 58519082 C T SNP FAM217B ENST00000358293 human ensembl 74_37 +1 known silent c.84 p.H28 0.000 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 100 1 0.990099 69 36 34.2857 SLCO4A1 0 genome.wustl.edu 37 20 61288207 61288207 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 61288207 61288207 G A SNP SLCO4A1 ENST00000217159 human ensembl 74_37 +1 known missense c.401 p.R134H 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC ENSG00000101187 83 0 0 56 4 6.66667 DIDO1 0 genome.wustl.edu 37 20 61541269 61541269 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 61541269 61541269 T C SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.943 p.I315V 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 82 0 0 71 28 28.2828 MYT1 0 genome.wustl.edu 37 20 62839241 62839241 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 62839241 62839241 G A SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known missense c.692 p.R231H 0.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 50 0 0 28 15 34.8837 KRTAP26-1 0 genome.wustl.edu 37 21 31691822 31691822 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 21 31691822 31691822 C T SNP KRTAP26-1 ENST00000360542 human ensembl 74_37 -1 known missense c.532 p.V178I 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP26-1 HGNC ENSG00000197683 392 0 0 141 96 40.5063 TIAM1 0 genome.wustl.edu 37 21 32617973 32617973 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 21 32617973 32617973 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.1415 p.C472Y 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 51 0 0 15 11 42.3077 RIPK4 0 genome.wustl.edu 37 21 43162041 43162041 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 21 43162041 43162041 C T SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.1456 p.G486S 0.001 pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_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 281 0 0 85 64 42.953 PKNOX1 0 genome.wustl.edu 37 21 44437072 44437072 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 21 44437072 44437072 G A SNP PKNOX1 ENST00000291547 human ensembl 74_37 +1 known missense c.577 p.A193T 0.996 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX1 HGNC ENSG00000160199 79 0 0 25 20 44.4444 PWP2 0 genome.wustl.edu 37 21 45534462 45534462 + RNA SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 21 45534462 45534462 A G SNP PWP2 ENST00000486126 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PWP2 HGNC ENSG00000241945 36 0 0 12 15 55.5556 CECR2 0 genome.wustl.edu 37 22 17983977 17983977 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 17983977 17983977 C T SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel nonsense c.733 p.R245* 0.839 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 92 0 0 62 26 29.5455 CECR2 0 genome.wustl.edu 37 22 18021539 18021539 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 18021539 18021539 A G SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel silent c.1830 p.V610 0.327 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 113 0 0 72 28 28 LOC101929372 0 genome.wustl.edu 37 22 18070848 18070848 + RNA SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 18070848 18070848 A G SNP LOC101929372 ENST00000443935 human ensembl 74_37 -1 known rna NULL NULL 0.981 - - - no_errors AC004019.13 Clone_based_vega_gene ENSG00000236754 92 0 0 57 24 29.6296 MICAL3 0 genome.wustl.edu 37 22 18355566 18355566 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 18355566 18355566 T C SNP MICAL3 ENST00000429452 human ensembl 74_37 -1 known missense c.2560 p.N854D 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 88 0 0 52 24 31.5789 SPECC1L 0 genome.wustl.edu 37 22 24717989 24717989 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 24717989 24717989 T C SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known silent c.1041 p.S347 0.945 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 98 0 0 89 23 20.5357 L3MBTL2 0 genome.wustl.edu 37 22 41620769 41620769 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 41620769 41620769 G T SNP L3MBTL2 ENST00000216237 human ensembl 74_37 +1 known missense c.1215 p.K405N 0.996 smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 76 0 0 54 18 25 SBF1 0 genome.wustl.edu 37 22 50906280 50906280 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 50906280 50906280 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.214 p.D72N 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 57 0 0 19 11 36.6667 NFKBIZ 0 genome.wustl.edu 37 3 101574616 101574616 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 101574616 101574616 C A SNP NFKBIZ ENST00000326172 human ensembl 74_37 +1 known missense c.1694 p.A565D 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors NFKBIZ HGNC ENSG00000144802 105 0 0 101 6 5.60748 TATDN2 0 genome.wustl.edu 37 3 10312453 10312453 + Missense_Mutation SNP A A T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 10312453 10312453 A T SNP TATDN2 ENST00000287652 human ensembl 74_37 +1 known missense c.1587 p.E529D 0.887 pfam_TatD_family pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 209 1 0.47619 191 67 25.969 GHRL 0 genome.wustl.edu 37 3 10328491 10328491 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 10328491 10328491 G A SNP GHRL ENST00000335542 human ensembl 74_37 -1 known silent c.231 p.N77 0.530 pfam_Motilin_assoc,prints_Preproghrelin pfam_Motilin_assoc,pfam_Motilin_ghrelin,prints_Preproghrelin - no_errors GHRL HGNC ENSG00000157017 32 0 0 33 14 29.7872 ATP2B2 0 genome.wustl.edu 37 3 10442673 10442673 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 10442673 10442673 G A SNP ATP2B2 ENST00000352432 human ensembl 74_37 -1 known missense c.745 p.R249C 1.000 pfam_ATPase_P-typ_transduc_dom_A,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B2 HGNC ENSG00000157087 110 0 0 87 37 29.8387 GUCA1C 0 genome.wustl.edu 37 3 108634981 108634981 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 108634981 108634981 G A SNP GUCA1C ENST00000261047 human ensembl 74_37 -1 known silent c.435 p.N145 0.488 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 143 0 0 96 52 35.1351 TMPRSS7 0 genome.wustl.edu 37 3 111766802 111766802 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 111766802 111766802 G A SNP TMPRSS7 ENST00000419127 human ensembl 74_37 +1 known missense c.569 p.S190N 0.472 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Peptidase_S1,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS7 HGNC ENSG00000176040 114 0 0 72 36 33.3333 CASR 0 genome.wustl.edu 37 3 121981056 121981056 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 121981056 121981056 C T SNP CASR ENST00000498619 human ensembl 74_37 +1 known nonsense c.1174 p.R392* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors CASR HGNC ENSG00000036828 107 0 0 69 27 28.125 HEG1 0 genome.wustl.edu 37 3 124732092 124732092 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 124732092 124732092 G A SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known silent c.2331 p.D777 0.041 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 332 0 0 194 83 29.9639 RAF1 0 genome.wustl.edu 37 3 12645699 12645699 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 12645699 12645699 G A SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.770 p.S257L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 137 0 0 150 42 21.875 KY 0 genome.wustl.edu 37 3 134348463 134348463 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 134348463 134348463 G A SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.337 p.R113C 0.867 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 17 0 0 9 4 30.7692 EPHB1 0 genome.wustl.edu 37 3 134960059 134960059 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 134960059 134960059 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2416 p.D806N 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 352 0 0 232 102 30.5389 FBLN2 0 genome.wustl.edu 37 3 13679190 13679190 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 13679190 13679190 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.3467 p.A1156V 0.996 NULL 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 31 0 0 25 19 43.1818 PLSCR5 0 genome.wustl.edu 37 3 146307501 146307501 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 146307501 146307501 T C SNP PLSCR5 ENST00000443512 human ensembl 74_37 -1 known missense c.716 p.H239R 1.000 pfam_Scramblase,superfamily_Tubby_C-like pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 159 0 0 89 34 27.6423 ZIC1 0 genome.wustl.edu 37 3 147128660 147128660 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 147128660 147128660 C T SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.761 p.T254M 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 132 0 0 79 29 26.8519 MED12L 0 genome.wustl.edu 37 3 151093846 151093846 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 151093846 151093846 T C SNP MED12L ENST00000474524 human ensembl 74_37 +1 known silent c.3792 p.P1264 0.925 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 125 0 0 84 33 28.2051 PLCH1 0 genome.wustl.edu 37 3 155206450 155206450 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 155206450 155206450 A G SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.2502 p.P834 0.992 superfamily_C2_dom,smart_C2_dom,prints_Pinositol_PLipase_C pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 62 0 0 63 13 17.1053 IGF2BP2 0 genome.wustl.edu 37 3 185407313 185407313 + Silent SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 185407313 185407313 G T SNP IGF2BP2 ENST00000382199 human ensembl 74_37 -1 known silent c.507 p.A169 0.997 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 143 0 0 155 10 6.06061 LEPREL1 0 genome.wustl.edu 37 3 189713205 189713205 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 189713205 189713205 T C SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known silent c.507 p.E169 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 79 0 0 65 33 33.6735 ATP13A5 0 genome.wustl.edu 37 3 192992817 192992817 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 192992817 192992817 G A SNP ATP13A5 ENST00000495496 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ATP13A5 HGNC ENSG00000187527 319 0 0 232 86 27.044 OXSM 0 genome.wustl.edu 37 3 25835771 25835771 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 25835771 25835771 C T SNP OXSM ENST00000280701 human ensembl 74_37 +1 known missense c.1166 p.A389V 1.000 pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 162 0 0 147 52 26.1307 SCN11A 0 genome.wustl.edu 37 3 38936341 38936341 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 38936341 38936341 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.2518 p.R840C 0.009 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 124 0 0 41 30 42.2535 ITPR1 0 genome.wustl.edu 37 3 4706906 4706906 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 4706906 4706906 G A SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.1594 p.A532T 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 140 0 0 98 7 6.66667 DAG1 0 genome.wustl.edu 37 3 49568877 49568877 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 49568877 49568877 G A SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known silent c.933 p.R311 0.991 NULL pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 123 0 0 93 5 5.10204 HYAL3 0 genome.wustl.edu 37 3 50332546 50332546 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 50332546 50332546 T G SNP HYAL3 ENST00000336307 human ensembl 74_37 -1 known missense c.488 p.Q163P 0.800 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL3 HGNC ENSG00000186792 121 0 0 52 25 32.4675 TLR9 0 genome.wustl.edu 37 3 52257641 52257641 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 52257641 52257641 G A SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.763 p.R255C 0.975 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 38 0 0 20 13 39.3939 DNAH12 0 genome.wustl.edu 37 3 57493550 57493550 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 57493550 57493550 A G SNP DNAH12 ENST00000351747 human ensembl 74_37 -1 known silent c.717 p.I239 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 91 0 0 58 19 24.6753 TRMT10A 0 genome.wustl.edu 37 4 100479282 100479282 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 100479282 100479282 C T SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.272 p.R91H 0.986 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 68 0 0 34 20 37.037 CFI 0 genome.wustl.edu 37 4 110681532 110681532 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 110681532 110681532 G A SNP CFI ENST00000394634 human ensembl 74_37 -1 known silent c.777 p.C259 0.992 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_FacI_MAC,smart_Srcr_rcpt-rel,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,pfscan_LDrepeatLR_classA_rpt,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors CFI HGNC ENSG00000205403 99 0 0 104 12 10.3448 QRFPR 0 genome.wustl.edu 37 4 122257967 122257967 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 122257967 122257967 G A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.556 p.L186F 0.914 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 487 1 0.204918 328 117 26.2921 ANXA5 0 genome.wustl.edu 37 4 122602903 122602903 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 122602903 122602903 T C SNP ANXA5 ENST00000296511 human ensembl 74_37 -1 known missense c.317 p.N106S 0.958 pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 173 0 0 112 40 26.3158 KIAA1109 0 genome.wustl.edu 37 4 123192637 123192637 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 123192637 123192637 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.7958 p.R2653Q 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 81 0 0 62 16 20.5128 INPP4B 0 genome.wustl.edu 37 4 143094842 143094842 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 143094842 143094842 A G SNP INPP4B ENST00000509777 human ensembl 74_37 -1 known silent c.1302 p.S434 1.000 NULL superfamily_C2_dom - no_errors INPP4B HGNC ENSG00000109452 167 0 0 110 43 28.1046 NR3C2 0 genome.wustl.edu 37 4 149356493 149356493 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 149356493 149356493 C T SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known missense c.1520 p.S507N 1.000 NULL 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_Znf_hrmn_rcpt - no_errors NR3C2 HGNC ENSG00000151623 124 0 0 81 36 30.7692 RBM46 0 genome.wustl.edu 37 4 155720669 155720669 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 155720669 155720669 T C SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.1355 p.L452S 0.936 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 30 0 0 25 8 24.2424 CPE 0 genome.wustl.edu 37 4 166388881 166388881 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 166388881 166388881 C T SNP CPE ENST00000402744 human ensembl 74_37 +1 known silent c.546 p.A182 0.998 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPE HGNC ENSG00000109472 112 0 0 83 39 31.9672 TLR3 0 genome.wustl.edu 37 4 186997931 186997931 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 186997931 186997931 T C SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.158 p.I53T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 122 0 0 88 48 35.2941 SRP72 0 genome.wustl.edu 37 4 57354156 57354156 + Nonsense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 57354156 57354156 G T SNP SRP72 ENST00000342756 human ensembl 74_37 +1 known nonsense c.1201 p.E401* 1.000 NULL pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 36 0 0 22 13 37.1429 REST 0 genome.wustl.edu 37 4 57797557 57797557 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 57797557 57797557 G A SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.2533 p.V845I 0.992 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 370 0 0 236 115 32.7635 WFS1 0 genome.wustl.edu 37 4 6303248 6303248 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 6303248 6303248 G A SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.1726 p.G576S 1.000 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 159 0 0 103 58 36.0248 TADA2B 0 genome.wustl.edu 37 4 7056038 7056038 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 7056038 7056038 G A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known missense c.520 p.E174K 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 39 0 0 23 9 28.125 ANKRD17 0 genome.wustl.edu 37 4 74005551 74005551 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 74005551 74005551 G A SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.2782 p.R928W 1.000 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKRD17 HGNC ENSG00000132466 159 0 0 111 48 30.1887 ACOX3 0 genome.wustl.edu 37 4 8368524 8368524 + RNA SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 8368524 8368524 T C SNP ACOX3 ENST00000515797 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACOX3 HGNC ENSG00000087008 17 0 0 12 6 33.3333 HELQ 0 genome.wustl.edu 37 4 84370031 84370031 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 84370031 84370031 T G SNP HELQ ENST00000295488 human ensembl 74_37 -1 known missense c.1096 p.T366P 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 115 1 0.862069 78 36 31.5789 NKX6-1 0 genome.wustl.edu 37 4 85414492 85414492 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 85414492 85414492 C T SNP NKX6-1 ENST00000295886 human ensembl 74_37 -1 known missense c.1054 p.G352S 0.996 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors NKX6-1 HGNC ENSG00000163623 74 0 0 51 31 37.8049 SPARCL1 0 genome.wustl.edu 37 4 88414917 88414917 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 88414917 88414917 G A SNP SPARCL1 ENST00000282470 human ensembl 74_37 -1 known silent c.1035 p.G345 0.002 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pirsf_SPARC-like_p1,pfscan_EF_hand_dom - no_errors SPARCL1 HGNC ENSG00000152583 152 0 0 90 52 36.6197 DMP1 0 genome.wustl.edu 37 4 88583274 88583274 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 88583274 88583274 G A SNP DMP1 ENST00000339673 human ensembl 74_37 +1 known missense c.344 p.G115D 0.063 pfam_DMP1 pfam_DMP1 - no_errors DMP1 HGNC ENSG00000152592 76 0 0 41 31 43.0556 ZNF608 0 genome.wustl.edu 37 5 124036925 124036925 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 124036925 124036925 G A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known missense c.944 p.P315L 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 146 0 0 109 49 31.0127 FSTL4 0 genome.wustl.edu 37 5 132560966 132560966 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 132560966 132560966 G A SNP FSTL4 ENST00000265342 human ensembl 74_37 -1 known silent c.1188 p.S396 0.213 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Kazal_dom,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL4 HGNC ENSG00000053108 180 0 0 122 45 26.9461 NEUROG1 0 genome.wustl.edu 37 5 134871302 134871302 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 134871302 134871302 T C SNP NEUROG1 ENST00000314744 human ensembl 74_37 -1 known missense c.79 p.T27A 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG1 HGNC ENSG00000181965 27 0 0 19 5 20.8333 KLHL3 0 genome.wustl.edu 37 5 136964109 136964109 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 136964109 136964109 C T SNP KLHL3 ENST00000309755 human ensembl 74_37 -1 known missense c.1468 p.G490R 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC ENSG00000146021 220 0 0 182 62 25.4098 DNAH5 0 genome.wustl.edu 37 5 13928247 13928247 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 13928247 13928247 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.233 p.R78Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 86 0 0 56 18 24.3243 PCDHA3 0 genome.wustl.edu 37 5 140182453 140182453 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140182453 140182453 C T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.1671 p.D557 0.993 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 193 1 0.515464 122 52 29.8851 PCDHA11 0 genome.wustl.edu 37 5 140250586 140250586 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140250586 140250586 C T SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1898 p.T633M 0.922 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 122 0 0 70 32 31.3725 PCDHA13 0 genome.wustl.edu 37 5 140264030 140264030 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140264030 140264030 C T SNP PCDHA13 ENST00000289272 human ensembl 74_37 +1 known missense c.2177 p.P726L 0.004 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC ENSG00000239389 214 0 0 139 8 5.44218 PCDHB3 0 genome.wustl.edu 37 5 140482030 140482030 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140482030 140482030 C T SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known silent c.1797 p.N599 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 106 0 0 62 17 21.519 PCDHB5 0 genome.wustl.edu 37 5 140515675 140515675 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140515675 140515675 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known missense c.659 p.P220L 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 256 0 0 126 75 37.3134 PCDHB16 0 genome.wustl.edu 37 5 140563517 140563517 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140563517 140563517 C T SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known silent c.1383 p.R461 0.069 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 PCDHB16 HGNC ENSG00000196963 204 0 0 114 42 26.9231 PCDHB14 0 genome.wustl.edu 37 5 140604527 140604527 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140604527 140604527 G A SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.1450 p.A484T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 221 0 0 111 55 33.1325 PCDHGA3 0 genome.wustl.edu 37 5 140724254 140724254 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140724254 140724254 C T SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.654 p.G218 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 93 0 0 53 17 24.2857 PCDHGA3 0 genome.wustl.edu 37 5 140724659 140724659 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140724659 140724659 A G SNP PCDHGA3 ENST00000253812 human ensembl 74_37 +1 known silent c.1059 p.T353 0.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA3 HGNC ENSG00000254245 109 0 0 78 37 32.1739 TCERG1 0 genome.wustl.edu 37 5 145838686 145838686 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 145838686 145838686 G A SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.678 p.Q226 1.000 NULL 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 46 0 0 21 8 27.5862 ARHGEF37 0 genome.wustl.edu 37 5 148980674 148980674 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 148980674 148980674 C T SNP ARHGEF37 ENST00000333677 human ensembl 74_37 +1 known missense c.190 p.P64S 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ENSG00000183111 380 1 0.262467 251 96 27.6657 FBXL7 0 genome.wustl.edu 37 5 15936714 15936714 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 15936714 15936714 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known nonsense c.895 p.Q299* 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 40 0 0 30 13 30.2326 GABRA6 0 genome.wustl.edu 37 5 161113339 161113339 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 161113339 161113339 C T SNP GABRA6 ENST00000274545 human ensembl 74_37 +1 known missense c.142 p.R48W 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 140 1 0.70922 93 28 23.1405 TENM2 0 genome.wustl.edu 37 5 167673994 167673994 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 167673994 167673994 A G SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.6050 p.Q2017R 1.000 superfamily_ConA-like_lec_gl_sf pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 82 0 0 73 25 25.5102 KCNMB1 0 genome.wustl.edu 37 5 169805926 169805926 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 169805926 169805926 C T SNP KCNMB1 ENST00000274629 human ensembl 74_37 -1 known missense c.358 p.V120M 0.976 pfam_K_chnl_Ca-activ_BK_bsu pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB1 HGNC ENSG00000145936 71 0 0 42 25 37.3134 CPEB4 0 genome.wustl.edu 37 5 173359456 173359456 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 173359456 173359456 G A SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known missense c.1211 p.R404H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 106 0 0 66 23 25.8427 MAML1 0 genome.wustl.edu 37 5 179195922 179195922 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 179195922 179195922 C T SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known silent c.1803 p.S601 0.227 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 305 0 0 211 62 22.7106 AMACR 0 genome.wustl.edu 37 5 34004802 34004802 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 34004802 34004802 C T SNP AMACR ENST00000335606 human ensembl 74_37 -1 known silent c.429 p.P143 0.000 pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors AMACR HGNC ENSG00000242110 143 0 0 80 43 34.9593 CKMT2 0 genome.wustl.edu 37 5 80550869 80550869 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 80550869 80550869 C T SNP CKMT2 ENST00000254035 human ensembl 74_37 +1 known missense c.505 p.R169C 1.000 pfam_ATP-guanido_PTrfase_cat pfam_ATP-guanido_PTrfase_cat,pfam_ATP-guanido_PTrfase_N,superfamily_ATP-guanido_PTrfase_N - no_errors CKMT2 HGNC ENSG00000131730 56 0 0 39 12 23.5294 MCHR2 0 genome.wustl.edu 37 6 100368816 100368816 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 100368816 100368816 C T SNP MCHR2 ENST00000281806 human ensembl 74_37 -1 known silent c.1023 p.*341 0.914 NULL 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 164 1 0.606061 108 28 20.5882 PREP 0 genome.wustl.edu 37 6 105825262 105825262 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 105825262 105825262 G A SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.253 p.R85W 0.997 pfam_Pept_S9A_N pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 199 0 0 131 44 25.1429 SOBP 0 genome.wustl.edu 37 6 107956521 107956521 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 107956521 107956521 G A SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.2473 p.G825S 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 135 0 0 74 32 30.1887 FYN 0 genome.wustl.edu 37 6 111995792 111995792 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 111995792 111995792 G T SNP FYN ENST00000354650 human ensembl 74_37 -1 known missense c.1315 p.L439M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FYN HGNC ENSG00000010810 228 2 0.869565 147 56 27.5862 DSE 0 genome.wustl.edu 37 6 116580028 116580028 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 116580028 116580028 C T SNP DSE ENST00000540275 human ensembl 74_37 +1 known missense c.422 p.A141V 1.000 NULL NULL - no_errors DSE HGNC ENSG00000111817 42 0 0 29 15 34.0909 RSPH4A 0 genome.wustl.edu 37 6 116949263 116949263 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 116949263 116949263 C T SNP RSPH4A ENST00000229554 human ensembl 74_37 +1 known nonsense c.1393 p.R465* 0.473 pfam_Radial_spoke pfam_Radial_spoke - no_errors RSPH4A HGNC ENSG00000111834 149 0 0 85 28 24.7788 FAM184A 0 genome.wustl.edu 37 6 119345681 119345681 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 119345681 119345681 T C SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.457 p.T153A 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 143 0 0 107 44 29.1391 HIVEP1 0 genome.wustl.edu 37 6 12122268 12122268 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 12122268 12122268 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.2240 p.R747Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 69 0 0 35 21 37.5 GJA1 0 genome.wustl.edu 37 6 121768435 121768435 + Nonsense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 121768435 121768435 C T SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known nonsense c.442 p.R148* 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 146 0 0 96 34 26.1538 MED23 0 genome.wustl.edu 37 6 131914223 131914223 + Silent SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 131914223 131914223 A C SNP MED23 ENST00000368058 human ensembl 74_37 -1 known silent c.3339 p.V1113 0.997 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 103 0 0 73 29 28.4314 ENPP1 0 genome.wustl.edu 37 6 132185669 132185669 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 132185669 132185669 T G SNP ENPP1 ENST00000360971 human ensembl 74_37 +1 known missense c.1049 p.I350S 0.995 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 35 0 0 33 13 28.2609 TAAR1 0 genome.wustl.edu 37 6 132966641 132966641 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 132966641 132966641 C T SNP TAAR1 ENST00000275216 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,prints_GPCR_Rhodpsn,prints_TAAR1,prints_TAAR_fam,pfscan_GPCR_Rhodpsn_7TM - no_errors TAAR1 HGNC ENSG00000146399 134 0 0 106 30 22.0588 GRM1 0 genome.wustl.edu 37 6 146673425 146673425 + Missense_Mutation SNP A A T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 146673425 146673425 A T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1226 p.K409M 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5 - no_errors GRM1 HGNC ENSG00000152822 199 0 0 109 58 34.7305 SYNE1 0 genome.wustl.edu 37 6 152740727 152740727 + Nonsense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 152740727 152740727 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.5398 p.Q1800* 0.880 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 95 0 0 47 25 34.7222 UNC93A 0 genome.wustl.edu 37 6 167721271 167721271 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 167721271 167721271 G A SNP UNC93A ENST00000230256 human ensembl 74_37 +1 known silent c.981 p.A327 0.000 superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93A HGNC ENSG00000112494 135 0 0 86 28 24.5614 MLLT4 0 genome.wustl.edu 37 6 168294542 168294542 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 168294542 168294542 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.1178 p.G393E 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 14 0 0 4 3 42.8571 CDKAL1 0 genome.wustl.edu 37 6 21231094 21231094 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 21231094 21231094 C T SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.1564 p.L522F 0.006 NULL pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 87 0 0 27 23 46 HIST1H4F 0 genome.wustl.edu 37 6 26240923 26240923 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 26240923 26240923 G A SNP HIST1H4F ENST00000377745 human ensembl 74_37 +1 known silent c.270 p.A90 0.995 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4F HGNC ENSG00000198327 110 0 0 32 25 43.8596 OR10C1 0 genome.wustl.edu 37 6 29408587 29408587 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 29408587 29408587 C T SNP OR10C1 ENST00000444197 human ensembl 74_37 +1 known silent c.795 p.Y265 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR10C1 HGNC ENSG00000206474 455 0 0 150 115 43.3962 TRIM10 0 genome.wustl.edu 37 6 30128498 30128498 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 30128498 30128498 T C SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known missense c.138 p.I46M 0.001 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 TRIM10 HGNC ENSG00000204613 297 0 0 122 74 37.7551 HLA-B 0 genome.wustl.edu 37 6 31324494 31324494 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 31324494 31324494 A G SNP HLA-B ENST00000412585 human ensembl 74_37 -1 known missense c.314 p.L105P 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a 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-B HGNC ENSG00000234745 68 0 0 28 17 37.7778 GRM4 0 genome.wustl.edu 37 6 34029800 34029800 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 34029800 34029800 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.742 p.V248M 0.998 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 81 0 0 30 24 44.4444 MLIP 0 genome.wustl.edu 37 6 54095592 54095592 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 54095592 54095592 G A SNP MLIP ENST00000274897 human ensembl 74_37 +1 known silent c.1194 p.L398 0.992 NULL NULL - no_errors MLIP HGNC ENSG00000146147 410 0 0 161 140 46.5116 DDX43 0 genome.wustl.edu 37 6 74111617 74111617 + Missense_Mutation SNP A A C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 74111617 74111617 A C SNP DDX43 ENST00000370336 human ensembl 74_37 +1 known missense c.472 p.S158R 0.005 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,superfamily_P-loop_NTPase,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 175 0 0 173 12 6.48649 MEPCE 0 genome.wustl.edu 37 7 100028448 100028448 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 100028448 100028448 C T SNP MEPCE ENST00000310512 human ensembl 74_37 +1 known silent c.807 p.H269 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 240 1 0.414938 156 75 32.4675 AGFG2 0 genome.wustl.edu 37 7 100162615 100162615 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 100162615 100162615 C T SNP AGFG2 ENST00000474713 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AGFG2 HGNC ENSG00000106351 329 1 0.30303 223 84 27.3616 GIGYF1 0 genome.wustl.edu 37 7 100281778 100281778 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 100281778 100281778 C T SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known missense c.1733 p.R578H 1.000 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 45 0 0 26 11 29.7297 SLC12A9 0 genome.wustl.edu 37 7 100463572 100463572 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 100463572 100463572 T C SNP SLC12A9 ENST00000354161 human ensembl 74_37 +1 known missense c.2090 p.V697A 1.000 NULL pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 175 0 0 136 11 7.48299 RELN 0 genome.wustl.edu 37 7 103293015 103293015 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 103293015 103293015 C T SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.1746 p.T582 0.053 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 95 0 0 68 13 16.0494 ORC5 0 genome.wustl.edu 37 7 103844608 103844608 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 103844608 103844608 C T SNP ORC5 ENST00000297431 human ensembl 74_37 -1 known silent c.147 p.T49 0.999 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors ORC5 HGNC ENSG00000164815 33 0 0 21 9 30 NAMPT 0 genome.wustl.edu 37 7 105891627 105891627 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 105891627 105891627 T C SNP NAMPT ENST00000222553 human ensembl 74_37 -1 known missense c.1378 p.T460A 1.000 pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase pfam_Nic_PRibTrfase-Fam,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase - no_errors NAMPT HGNC ENSG00000105835 133 0 0 93 42 31.1111 RBM28 0 genome.wustl.edu 37 7 127953322 127953322 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 127953322 127953322 C T SNP RBM28 ENST00000223073 human ensembl 74_37 -1 known missense c.2051 p.R684Q 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM28 HGNC ENSG00000106344 184 0 0 125 51 28.9773 ZYX 0 genome.wustl.edu 37 7 143079975 143079975 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 143079975 143079975 G A SNP ZYX ENST00000322764 human ensembl 74_37 +1 known missense c.583 p.A195T 0.794 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 112 0 0 76 22 22.449 EPHA1 0 genome.wustl.edu 37 7 143091370 143091370 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 143091370 143091370 T C SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.2419 p.S807G 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_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHA1 HGNC ENSG00000146904 162 0 0 100 61 37.8882 OR2F1 0 genome.wustl.edu 37 7 143658000 143658000 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 143658000 143658000 T C SNP OR2F1 ENST00000392899 human ensembl 74_37 +1 known missense c.937 p.S313P 0.138 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F1 HGNC ENSG00000213215 96 0 0 58 32 35.5556 ZNF862 0 genome.wustl.edu 37 7 149544928 149544928 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 149544928 149544928 A G SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.346 p.S116G 0.001 NULL 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 37 0 0 24 5 17.2414 ZNF775 0 genome.wustl.edu 37 7 150094965 150094965 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 150094965 150094965 C T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.1396 p.R466C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 13 0 0 15 5 25 ASB10 0 genome.wustl.edu 37 7 150878058 150878058 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 150878058 150878058 C T SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known missense c.1207 p.A403T 0.974 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 22 0 0 31 5 13.8889 SMARCD3 0 genome.wustl.edu 37 7 150937306 150937306 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 150937306 150937306 C T SNP SMARCD3 ENST00000262188 human ensembl 74_37 -1 known silent c.1065 p.T355 0.531 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 80 0 0 53 26 32.9114 NOM1 0 genome.wustl.edu 37 7 156762298 156762298 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 156762298 156762298 C T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known silent c.2484 p.N828 0.001 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 270 0 0 185 78 29.6578 ENSG00000229533 0 genome.wustl.edu 37 7 19185033 19185033 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 19185033 19185033 G A SNP ENSG00000229533 ENST00000452700 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AC003986.5 Clone_based_vega_gene ENSG00000229533 17 0 0 15 4 21.0526 DNAH11 0 genome.wustl.edu 37 7 21939646 21939646 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 21939646 21939646 C T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.13232 p.T4411M 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 42 0 0 36 17 32.0755 CBX3 0 genome.wustl.edu 37 7 26248012 26248012 + Splice_Site SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 26248012 26248012 G A SNP CBX3 ENST00000337620 human ensembl 74_37 +1 known splice_site c.168-1 e3-1 1.000 - - - no_errors CBX3 HGNC ENSG00000122565 48 0 0 46 4 8 PLEKHA8 0 genome.wustl.edu 37 7 30088859 30088859 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 30088859 30088859 C T SNP PLEKHA8 ENST00000449726 human ensembl 74_37 +1 known missense c.458 p.T153I 1.000 NULL pfam_Glycolipid_transfer_prot_dom,pfam_Pleckstrin_homology,superfamily_Glycolipid_transfer_prot_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA8 HGNC ENSG00000106086 366 1 0.27248 268 103 27.7628 SFRP4 0 genome.wustl.edu 37 7 37956066 37956066 + Missense_Mutation SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 37956066 37956066 T A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known missense c.74 p.E25V 1.000 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 SFRP4 HGNC ENSG00000106483 74 0 0 59 29 32.9545 HECW1 0 genome.wustl.edu 37 7 43532713 43532713 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 43532713 43532713 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.3371 p.R1124H 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 59 0 0 31 23 42.5926 STK17A 0 genome.wustl.edu 37 7 43664348 43664348 + Silent SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 43664348 43664348 T A SNP STK17A ENST00000319357 human ensembl 74_37 +1 known silent c.1152 p.S384 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 STK17A HGNC ENSG00000164543 113 0 0 62 33 34.7368 TNS3 0 genome.wustl.edu 37 7 47408673 47408673 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 47408673 47408673 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.1570 p.G524S 0.998 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 105 0 0 66 21 24.1379 POM121L12 0 genome.wustl.edu 37 7 53104085 53104085 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 53104085 53104085 G A SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.721 p.G241S 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 77 0 0 50 24 32.4324 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 31 0 0 26 5 16.129 TYW1 0 genome.wustl.edu 37 7 66648139 66648139 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 66648139 66648139 G A SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known silent c.1725 p.T575 0.102 pfam_rSAM pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 49 0 0 34 9 20.9302 WBSCR28 0 genome.wustl.edu 37 7 73279550 73279550 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 73279550 73279550 T C SNP WBSCR28 ENST00000320531 human ensembl 74_37 +1 known silent c.300 p.A100 0.000 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 72 0 0 51 23 31.0811 CD36 0 genome.wustl.edu 37 7 80292449 80292449 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 80292449 80292449 G A SNP CD36 ENST00000309881 human ensembl 74_37 +1 known silent c.573 p.P191 0.022 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 175 0 0 125 48 27.7457 ZFPM2 0 genome.wustl.edu 37 8 106573672 106573672 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 106573672 106573672 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.383 p.P128L 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 45 0 0 91 5 5.20833 ZFPM2 0 genome.wustl.edu 37 8 106815517 106815517 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 106815517 106815517 C T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known silent c.3207 p.H1069 0.293 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 51 0 0 29 38 56.7164 FAM167A 0 genome.wustl.edu 37 8 11282089 11282089 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 11282089 11282089 G A SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known silent c.438 p.G146 0.839 pfam_FAM167 pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 60 0 0 34 14 29.1667 CSMD3 0 genome.wustl.edu 37 8 114186058 114186058 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 114186058 114186058 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.602 p.R201H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 153 0 0 207 47 18.5039 TNFRSF11B 0 genome.wustl.edu 37 8 119945336 119945336 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 119945336 119945336 G A SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known silent c.234 p.D78 0.006 pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 185 0 0 247 54 17.9402 HAS2 0 genome.wustl.edu 37 8 122627103 122627103 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 122627103 122627103 T C SNP HAS2 ENST00000303924 human ensembl 74_37 -1 known missense c.905 p.Q302R 1.000 pfam_Chitin_synth_fng pfam_Chitin_synth_fng - no_errors HAS2 HGNC ENSG00000170961 361 0 0 429 100 18.9036 FAM83A 0 genome.wustl.edu 37 8 124195533 124195533 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 124195533 124195533 A G SNP FAM83A ENST00000318462 human ensembl 74_37 +1 known missense c.437 p.N146S 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83A HGNC ENSG00000147689 132 0 0 157 22 12.2905 FAM135B 0 genome.wustl.edu 37 8 139158276 139158276 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 139158276 139158276 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.3466 p.R1156W 1.000 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 101 0 0 105 30 22.2222 EEF1D 0 genome.wustl.edu 37 8 144663405 144663405 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 144663405 144663405 G A SNP EEF1D ENST00000423316 human ensembl 74_37 -1 known missense c.1381 p.R461C 0.996 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1D HGNC ENSG00000104529 48 0 0 56 11 16.4179 PLEC 0 genome.wustl.edu 37 8 144996079 144996079 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 144996079 144996079 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.8321 p.A2774V 0.001 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 32 6 15.7895 VPS28 0 genome.wustl.edu 37 8 145649364 145649364 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 145649364 145649364 C T SNP VPS28 ENST00000377348 human ensembl 74_37 -1 known missense c.608 p.R203Q 0.000 pirsf_VPS28 pfam_VPS28,pirsf_VPS28 - no_errors VPS28 HGNC ENSG00000160948 129 0 0 184 39 17.4888 VPS37A 0 genome.wustl.edu 37 8 17125856 17125856 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 17125856 17125856 A G SNP VPS37A ENST00000324849 human ensembl 74_37 +1 known missense c.290 p.Y97C 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 103 0 0 71 22 23.6559 SLC18A1 0 genome.wustl.edu 37 8 20008200 20008200 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 20008200 20008200 A G SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known silent c.1071 p.G357 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 263 1 0.378788 198 61 23.5521 DOCK5 0 genome.wustl.edu 37 8 25199933 25199933 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 25199933 25199933 T G SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.2527 p.F843V 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 16 0 0 9 5 35.7143 TUBBP1 0 genome.wustl.edu 37 8 30209973 30209973 + RNA SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 30209973 30209973 C A SNP TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors TUBBP1 HGNC ENSG00000127589 70 0 0 39 19 32.7586 XKR4 0 genome.wustl.edu 37 8 56435947 56435947 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 56435947 56435947 G A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.1114 p.V372I 0.998 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 167 1 0.595238 95 132 58.1498 VCPIP1 0 genome.wustl.edu 37 8 67547095 67547095 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 67547095 67547095 C T SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.3310 p.A1104T 1.000 NULL pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 151 0 0 178 51 22.2707 EYA1 0 genome.wustl.edu 37 8 72184073 72184073 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 72184073 72184073 G A SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.886 p.R296C 1.000 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 386 0 0 475 104 17.962 HNF4G 0 genome.wustl.edu 37 8 76456180 76456180 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 76456180 76456180 C T SNP HNF4G ENST00000396423 human ensembl 74_37 +1 known missense c.223 p.R75C 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4G HGNC ENSG00000164749 176 0 0 101 119 54.0909 ZFHX4 0 genome.wustl.edu 37 8 77764274 77764274 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 77764274 77764274 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.5117 p.A1706D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 120 0 0 146 38 20.6522 SGK223 0 genome.wustl.edu 37 8 8176270 8176270 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 8176270 8176270 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known silent c.3615 p.L1205 0.999 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SGK223 Uniprot_gn ENSG00000182319 37 0 0 12 6 33.3333 CPNE3 0 genome.wustl.edu 37 8 87560586 87560586 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 87560586 87560586 T C SNP CPNE3 ENST00000198765 human ensembl 74_37 +1 known missense c.937 p.Y313H 1.000 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE3 HGNC ENSG00000085719 128 0 0 167 31 15.6566 PDP1 0 genome.wustl.edu 37 8 94934286 94934286 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 94934286 94934286 C T SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known missense c.74 p.A25V 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP1 HGNC ENSG00000164951 136 0 0 83 87 51.1765 PTPN3 0 genome.wustl.edu 37 9 112207535 112207535 + Missense_Mutation SNP A A T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 112207535 112207535 A T SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known missense c.451 p.S151T 0.997 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain 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 57 0 0 49 15 23.4375 DAB2IP 0 genome.wustl.edu 37 9 124441061 124441061 + Splice_Site SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 124441061 124441061 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known splice_site c.228+1 e2+1 1.000 - - - no_errors DAB2IP HGNC ENSG00000136848 15 0 0 2 4 66.6667 DAB2IP 0 genome.wustl.edu 37 9 124535255 124535255 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 124535255 124535255 G A SNP DAB2IP ENST00000408936 human ensembl 74_37 +1 known silent c.2448 p.A816 0.069 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 61 0 0 43 13 23.2143 SH2D3C 0 genome.wustl.edu 37 9 130502091 130502091 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 130502091 130502091 T C SNP SH2D3C ENST00000314830 human ensembl 74_37 -1 known silent c.2277 p.P759 0.000 smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25 - no_errors SH2D3C HGNC ENSG00000095370 19 0 0 11 7 38.8889 WDR34 0 genome.wustl.edu 37 9 131396974 131396974 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 131396974 131396974 A G SNP WDR34 ENST00000372715 human ensembl 74_37 -1 known missense c.1208 p.F403S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR34 HGNC ENSG00000119333 9 0 0 10 3 23.0769 ENSG00000234055 0 genome.wustl.edu 37 9 131860167 131860167 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 131860167 131860167 G A SNP ENSG00000234055 ENST00000434250 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-247A12.1 Clone_based_vega_gene ENSG00000234055 55 0 0 29 18 38.2979 UCK1 0 genome.wustl.edu 37 9 134400578 134400578 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 134400578 134400578 T C SNP UCK1 ENST00000372211 human ensembl 74_37 -1 known missense c.698 p.Q233R 1.000 NULL pfam_PRK/URK,superfamily_P-loop_NTPase,prints_Uridine_kinase - no_errors UCK1 HGNC ENSG00000130717 93 0 0 47 22 31.8841 COL5A1 0 genome.wustl.edu 37 9 137710590 137710590 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 137710590 137710590 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4319 p.R1440Q 0.969 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 29 0 0 14 8 36.3636 COL5A1 0 genome.wustl.edu 37 9 137716476 137716476 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 137716476 137716476 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.4729 p.P1577S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 58 0 0 28 20 41.6667 COL5A1 0 genome.wustl.edu 37 9 137727007 137727007 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 137727007 137727007 A G SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.5327 p.Y1776C 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 59 0 0 41 21 33.871 PSIP1 0 genome.wustl.edu 37 9 15468838 15468838 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 15468838 15468838 G A SNP PSIP1 ENST00000380733 human ensembl 74_37 -1 known missense c.1210 p.R404W 1.000 pfam_LEDGF pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 68 0 0 49 21 30 IFNA13 0 genome.wustl.edu 37 9 21367521 21367521 + Silent SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 21367521 21367521 A G SNP IFNA13 ENST00000449498 human ensembl 74_37 -1 known silent c.489 p.C163 0.998 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA13 HGNC ENSG00000233816 265 0 0 186 76 29.0076 DOCK8 0 genome.wustl.edu 37 9 332451 332451 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 332451 332451 G A SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.1098 p.T366 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 86 0 0 66 30 31.25 PTENP1 0 genome.wustl.edu 37 9 33676625 33676625 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 33676625 33676625 C T SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 142 0 0 98 48 32.8767 CNTFR 0 genome.wustl.edu 37 9 34564807 34564807 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 34564807 34564807 G A SNP CNTFR ENST00000351266 human ensembl 74_37 -1 known missense c.109 p.R37C 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTFR HGNC ENSG00000122756 69 0 0 55 27 32.9268 RUSC2 0 genome.wustl.edu 37 9 35557979 35557979 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 35557979 35557979 G A SNP RUSC2 ENST00000361226 human ensembl 74_37 +1 known missense c.3052 p.G1018R 1.000 NULL pfam_Run,pfam_SH3_2,superfamily_SH3_domain,smart_Run,smart_SH3_domain,pfscan_Run,pfscan_SH3_domain - no_errors RUSC2 HGNC ENSG00000198853 122 0 0 92 24 20.6897 TLN1 0 genome.wustl.edu 37 9 35717226 35717226 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 35717226 35717226 G A SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.2375 p.A792V 0.979 NULL pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 113 0 0 88 6 6.38298 DOCK8 0 genome.wustl.edu 37 9 414890 414890 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 414890 414890 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known silent c.3639 p.A1213 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 301 1 0.331126 175 95 35.1852 INSL6 0 genome.wustl.edu 37 9 5185595 5185595 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 5185595 5185595 C T SNP INSL6 ENST00000381641 human ensembl 74_37 -1 known missense c.8 p.R3Q 0.000 pirsf_Insulin-like_pep_6 pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,pirsf_Insulin-like_pep_6 - no_errors INSL6 HGNC ENSG00000120210 30 0 0 19 10 34.4828 CBWD6 0 genome.wustl.edu 37 9 69247573 69247573 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 69247573 69247573 C T SNP CBWD6 ENST00000377457 human ensembl 74_37 -1 known missense c.439 p.A147T 1.000 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C - no_errors CBWD6 HGNC ENSG00000204790 114 1 0.869565 113 6 5.04202 ENSG00000226668 0 genome.wustl.edu 37 9 95648046 95648046 + RNA SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 95648046 95648046 G A SNP ENSG00000226668 ENST00000446878 human ensembl 74_37 +1 putative rna NULL NULL 0.002 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 224 0 0 199 51 20.4 FGD3 0 genome.wustl.edu 37 9 95738590 95738590 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 95738590 95738590 G T SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.52 p.G18W 0.084 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 FGD3 HGNC ENSG00000127084 21 0 0 12 9 42.8571 C9orf129 0 genome.wustl.edu 37 9 96080715 96080715 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 96080715 96080715 C T SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known missense c.556 p.A186T 0.000 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 136 0 0 105 41 28.0822 PHF2 0 genome.wustl.edu 37 9 96437269 96437269 + Missense_Mutation SNP G G T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 96437269 96437269 G T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.2687 p.R896M 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 98 0 0 71 19 21.1111 FRMPD3 0 genome.wustl.edu 37 X 106846277 106846277 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 106846277 106846277 A G SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.5107 p.I1703V 0.998 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 96 0 0 55 58 51.3274 CAPN6 0 genome.wustl.edu 37 X 110489890 110489890 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 110489890 110489890 C T SNP CAPN6 ENST00000324068 human ensembl 74_37 -1 known missense c.1841 p.R614H 1.000 superfamily_C2_dom,smart_C2_dom 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 161 0 0 161 10 5.84795 KIAA1210 0 genome.wustl.edu 37 X 118222233 118222233 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 118222233 118222233 C T SNP KIAA1210 ENST00000402510 human ensembl 74_37 -1 known missense c.2960 p.C987Y 0.000 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 104 0 0 107 31 22.4638 GRIA3 0 genome.wustl.edu 37 X 122319737 122319737 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 122319737 122319737 G A SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.163 p.V55M 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 GRIA3 HGNC ENSG00000125675 115 1 0.862069 110 38 25.6757 GRIA3 0 genome.wustl.edu 37 X 122537342 122537342 + Missense_Mutation SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 122537342 122537342 A G SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.1265 p.N422S 1.000 NULL 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 GRIA3 HGNC ENSG00000125675 307 0 0 284 92 24.4681 BCORL1 0 genome.wustl.edu 37 X 129147951 129147951 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 129147951 129147951 G A SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known silent c.1203 p.T401 0.588 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 33 0 0 32 9 21.9512 ZNF280C 0 genome.wustl.edu 37 X 129370483 129370483 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 129370483 129370483 G A SNP ZNF280C ENST00000370978 human ensembl 74_37 -1 known silent c.624 p.G208 0.000 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 139 0 0 164 46 21.9048 TLR8 0 genome.wustl.edu 37 X 12940244 12940244 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 12940244 12940244 C T SNP TLR8 ENST00000218032 human ensembl 74_37 +1 known missense c.3085 p.R1029W 0.038 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 258 0 0 262 101 27.8237 FHL1 0 genome.wustl.edu 37 X 135292049 135292049 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 135292049 135292049 T C SNP FHL1 ENST00000345434 human ensembl 74_37 +1 known missense c.908 p.V303A 0.998 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL1 HGNC ENSG00000022267 199 0 0 199 64 24.3346 ARHGEF6 0 genome.wustl.edu 37 X 135789067 135789067 + Missense_Mutation SNP C C A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 135789067 135789067 C A SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.1046 p.S349I 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 277 0 0 307 92 23.0576 CD99L2 0 genome.wustl.edu 37 X 149945829 149945829 + RNA SNP A A G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 149945829 149945829 A G SNP CD99L2 ENST00000346693 human ensembl 74_37 -1 known rna NULL NULL 0.115 - - - no_errors CD99L2 HGNC ENSG00000102181 45 0 0 27 12 30.7692 MAGEA10 0 genome.wustl.edu 37 X 151303089 151303089 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 151303089 151303089 T C SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known missense c.1004 p.K335R 0.001 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 336 2 0.591716 340 116 25.4386 HAUS7 0 genome.wustl.edu 37 X 152721808 152721808 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 152721808 152721808 G A SNP HAUS7 ENST00000370212 human ensembl 74_37 -1 known missense c.650 p.A217V 0.000 NULL NULL - no_errors HAUS7 HGNC ENSG00000213397 112 0 0 108 35 24.4755 ATP2B3 0 genome.wustl.edu 37 X 152813345 152813345 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 152813345 152813345 G A SNP ATP2B3 ENST00000263519 human ensembl 74_37 +1 known silent c.1011 p.A337 0.193 pfam_ATPase_P-typ_transduc_dom_A 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 158 0 0 91 93 50.5435 ATP2B3 0 genome.wustl.edu 37 X 152845813 152845813 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 152845813 152845813 C T SNP ATP2B3 ENST00000496610 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP2B3 HGNC ENSG00000067842 41 0 0 28 25 47.1698 PLXNB3 0 genome.wustl.edu 37 X 153036432 153036432 + Missense_Mutation SNP T T G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 153036432 153036432 T G SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.2218 p.S740A 0.521 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 189 0 0 167 48 22.3256 FLNA 0 genome.wustl.edu 37 X 153585838 153585838 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 153585838 153585838 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.4909 p.V1637M 0.972 superfamily_Ig_E-set,smart_Filamin 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 57 0 0 48 32 40 FLNA 0 genome.wustl.edu 37 X 153587000 153587000 + RNA SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 153587000 153587000 C T SNP FLNA ENST00000466319 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors FLNA HGNC ENSG00000196924 67 0 0 78 19 19.5876 GPR64 0 genome.wustl.edu 37 X 19031842 19031842 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 19031842 19031842 G A SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.1061 p.A354V 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 243 0 0 191 63 24.8031 SAT1 0 genome.wustl.edu 37 X 23801523 23801523 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 23801523 23801523 C T SNP SAT1 ENST00000379270 human ensembl 74_37 +1 known missense c.55 p.R19W 1.000 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors SAT1 HGNC ENSG00000130066 46 0 0 39 9 18.75 FAM47C 0 genome.wustl.edu 37 X 37028447 37028447 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 37028447 37028447 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1964 p.C655Y 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 160 0 0 150 39 20.6349 SLC9A7 0 genome.wustl.edu 37 X 46508232 46508232 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 46508232 46508232 C T SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known missense c.1348 p.V450I 0.995 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 103 0 0 81 15 15.625 KCND1 0 genome.wustl.edu 37 X 48826129 48826129 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 48826129 48826129 C T SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known missense c.550 p.A184T 0.997 prints_K_chnl,prints_K_chnl_volt-dep_Kv4 pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 15 0 0 28 16 36.3636 CCNB3 0 genome.wustl.edu 37 X 50085219 50085219 + Missense_Mutation SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 50085219 50085219 C T SNP CCNB3 ENST00000276014 human ensembl 74_37 +1 known missense c.3535 p.H1179Y 0.997 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 221 0 0 232 51 18.0212 SMC1A 0 genome.wustl.edu 37 X 53438754 53438754 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 53438754 53438754 T C SNP SMC1A ENST00000322213 human ensembl 74_37 -1 known missense c.1211 p.Q404R 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,prints_Tropomyosin 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 311 0 0 325 86 20.9246 HUWE1 0 genome.wustl.edu 37 X 53600835 53600835 + Missense_Mutation SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 53600835 53600835 T C SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.6187 p.K2063E 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 168 0 0 164 50 23.3645 TRO 0 genome.wustl.edu 37 X 54956889 54956889 + Silent SNP T T C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 54956889 54956889 T C SNP TRO ENST00000173898 human ensembl 74_37 +1 known silent c.3732 p.G1244 0.002 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC ENSG00000067445 123 0 0 115 38 24.8366 AR 0 genome.wustl.edu 37 X 66765158 66765158 + Missense_Mutation SNP T T A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 66765158 66765158 T A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.170 p.L57Q 0.929 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 28 0 0 32 4 11.1111 OTUD6A 0 genome.wustl.edu 37 X 69283028 69283028 + Silent SNP C C T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 69283028 69283028 C T SNP OTUD6A ENST00000338352 human ensembl 74_37 +1 known silent c.654 p.G218 0.999 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 96 0 0 81 25 23.5849 PDZD11 0 genome.wustl.edu 37 X 69509183 69509183 + Silent SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 69509183 69509183 G A SNP PDZD11 ENST00000239666 human ensembl 74_37 -1 known silent c.9 p.S3 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD11 HGNC ENSG00000120509 27 0 0 26 4 13.3333 TAF1 0 genome.wustl.edu 37 X 70602920 70602920 + Missense_Mutation SNP G G A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 70602920 70602920 G A SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.1850 p.R617H 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 67 0 0 68 24 26.087 HDX 0 genome.wustl.edu 37 X 83724526 83724526 + Missense_Mutation SNP C C G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 83724526 83724526 C G SNP HDX ENST00000297977 human ensembl 74_37 -1 known missense c.205 p.A69P 0.754 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HDX HGNC ENSG00000165259 109 1 0.909091 88 29 24.7863 PTGFRN 0 genome.wustl.edu 37 1 117484649 117484649 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 117484649 117484649 C - DEL PTGFRN ENST00000393203 human ensembl 74_37 +1 known frame_shift_del c.362 p.S123fs 0.999 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PTGFRN HGNC ENSG00000134247 104 0 0 94 17 15.3153 TAS1R3 0 genome.wustl.edu 37 1 1266787 1266787 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 1266787 1266787 C - DEL TAS1R3 ENST00000339381 human ensembl 74_37 +1 known frame_shift_del c.62 p.P22fs 0.567 NULL 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 TAS1R3 HGNC ENSG00000169962 61 0 0 51 7 12.069 MXRA8 0 genome.wustl.edu 37 1 1290110 1290110 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 10 0 0 11 4 26.6667 SCNM1 0 genome.wustl.edu 37 1 151139074 151139074 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 151139074 151139074 T - DEL SCNM1 ENST00000471039 human ensembl 74_37 +1 putative rna NULL NULL 0.045 - - - no_errors SCNM1 HGNC ENSG00000163156 18 0 0 18 3 14.2857 LCE2B 0 genome.wustl.edu 37 1 152659638 152659638 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 152659638 152659638 G - DEL LCE2B ENST00000368780 human ensembl 74_37 +1 known frame_shift_del c.319 p.G108fs 0.986 NULL NULL - no_errors LCE2B HGNC ENSG00000159455 175 0 0 156 11 6.58683 S100A8 0 genome.wustl.edu 37 1 153362605 153362605 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 153362605 153362605 T - DEL S100A8 ENST00000368732 human ensembl 74_37 -1 known frame_shift_del c.256 p.S86fs 0.242 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors S100A8 HGNC ENSG00000143546 252 0 0 193 49 20.2479 ILF2 0 genome.wustl.edu 37 1 153634950 153634952 + In_Frame_Del DEL CTT CTT - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 153634950 153634952 CTT - DEL ILF2 ENST00000361891 human ensembl 74_37 -1 known in_frame_del c.1095_1093 p.K365in_frame_del 1.000:1.000:1.000 NULL pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N - no_errors ILF2 HGNC ENSG00000143621 117 0 0 68 35 33.9806 NES 0 genome.wustl.edu 37 1 156640235 156640235 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 156640235 156640235 C - DEL NES ENST00000368223 human ensembl 74_37 -1 known frame_shift_del c.3745 p.V1249fs 0.001 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 351 1 0.284091 288 59 17.0029 NTRK1 0 genome.wustl.edu 37 1 156846308 156846308 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 156846308 156846308 C - DEL NTRK1 ENST00000524377 human ensembl 74_37 +1 known frame_shift_del c.1749 p.L585fs 0.997 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_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 47 0 0 41 6 12.766 ALDH9A1 0 genome.wustl.edu 37 1 165634376 165634376 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 165634376 165634376 A - DEL ALDH9A1 ENST00000463610 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ALDH9A1 HGNC ENSG00000143149 54 0 0 43 9 17.3077 GPR161 0 genome.wustl.edu 37 1 168054869 168054869 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 168054869 168054869 C - DEL GPR161 ENST00000537209 human ensembl 74_37 -1 known frame_shift_del c.1550 p.G517fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR161 HGNC ENSG00000143147 265 0 0 187 28 13.0233 ENSG00000230260 0 genome.wustl.edu 37 1 197411573 197411573 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 26 0 0 11 9 45 CAMSAP2 0 genome.wustl.edu 37 1 200827019 200827020 + Frame_Shift_Ins INS - - A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 200827019 200827020 - A INS CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_ins c.4302_4303 p.M1436fs 1.000:1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 165 0 0 124 24 16.2162 CAMSAP2 0 genome.wustl.edu 37 1 200827020 200827020 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 200827020 200827020 A - DEL CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known frame_shift_del c.4303 p.M1437fs 1.000 pfam_CKK_domain,superfamily_PRC_barrel-like pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 165 0 0 105 43 29.0541 IGFN1 0 genome.wustl.edu 37 1 201185656 201185656 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 201185656 201185656 C - DEL IGFN1 ENST00000335211 human ensembl 74_37 +1 known frame_shift_del c.9370 p.P3125fs 0.996 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 IGFN1 HGNC ENSG00000163395 43 0 0 25 4 13.7931 ATP2B4 0 genome.wustl.edu 37 1 203667346 203667346 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 203667346 203667346 C - DEL ATP2B4 ENST00000357681 human ensembl 74_37 +1 known frame_shift_del c.255 p.K88fs 0.997 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N 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 ATP2B4 HGNC ENSG00000058668 90 0 0 73 15 17.0455 NFASC 0 genome.wustl.edu 37 1 204924033 204924033 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 436 0 0 330 67 16.8766 LUZP1 0 genome.wustl.edu 37 1 23418659 23418660 + Frame_Shift_Ins INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 23418659 23418660 - C INS LUZP1 ENST00000302291 human ensembl 74_37 -1 known frame_shift_ins c.2096_2095 p.A699fs 0.000:0.118 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 697 0 0 581 189 24.5455 ARID4B 0 genome.wustl.edu 37 1 235345419 235345419 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 235345419 235345419 T - DEL ARID4B ENST00000264183 human ensembl 74_37 -1 known frame_shift_del c.2815 p.T939fs 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 192 0 0 150 55 26.8293 LYST 0 genome.wustl.edu 37 1 235973738 235973741 + Frame_Shift_Del DEL CTTC CTTC - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 CTTC CTTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 235973738 235973741 CTTC - DEL LYST ENST00000389793 human ensembl 74_37 -1 known frame_shift_del c.380_377 p.G126fs 1.000:1.000:1.000:1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 200 0 0 149 40 21.164 RYR2 0 genome.wustl.edu 37 1 237617790 237617790 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 237617790 237617790 C - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.1386 p.P464fs 0.997 pfam_Ca-rel_channel 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 58 0 0 49 11 18.3333 FMN2 0 genome.wustl.edu 37 1 240492398 240492398 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 240492398 240492398 A - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.4238 p.I1415fs 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 109 0 0 78 26 25 OR2G2 0 genome.wustl.edu 37 1 247752266 247752266 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 247752266 247752266 T - DEL OR2G2 ENST00000320065 human ensembl 74_37 +1 known frame_shift_del c.605 p.F203fs 0.852 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 OR2G2 HGNC ENSG00000177489 162 0 0 141 8 5.36913 OR2W3 0 genome.wustl.edu 37 1 248059733 248059733 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 248059733 248059733 C - DEL OR2W3 ENST00000360358 human ensembl 74_37 +1 known frame_shift_del c.845 p.L284fs 0.057 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2W3 HGNC ENSG00000238243 106 0 0 82 20 19.6078 OR2T4 0 genome.wustl.edu 37 1 248525681 248525681 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 248525681 248525681 A - DEL OR2T4 ENST00000366475 human ensembl 74_37 +1 known frame_shift_del c.799 p.K268fs 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T4 HGNC ENSG00000196944 180 1 0.552486 129 26 16.7742 ARID1A 0 genome.wustl.edu 37 1 27100176 27100176 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 27100176 27100176 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.3972 p.P1326fs 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 127 0 0 112 24 17.6471 ARID1A 0 genome.wustl.edu 37 1 27101117 27101117 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 27101117 27101117 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4399 p.P1468fs 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 124 0 0 102 40 28.169 SDC3 0 genome.wustl.edu 37 1 31349751 31349752 + Frame_Shift_Ins INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 31349751 31349752 - C INS SDC3 ENST00000339394 human ensembl 74_37 -1 known frame_shift_ins c.518_517 p.D173fs 0.817:0.762 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 51 0 0 42 7 14.2857 A3GALT2 0 genome.wustl.edu 37 1 33777760 33777760 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 33777760 33777760 G - DEL A3GALT2 ENST00000442999 human ensembl 74_37 -1 novel frame_shift_del c.228 p.W77fs 0.999 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors A3GALT2 HGNC ENSG00000184389 40 0 0 22 6 21.4286 ZMYM6 0 genome.wustl.edu 37 1 35484912 35484912 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 35484912 35484912 A - DEL ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel frame_shift_del c.470 p.L157fs 0.001 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 145 1 0.684932 76 31 28.972 FHL3 0 genome.wustl.edu 37 1 38462977 38462977 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 38462977 38462977 T - DEL FHL3 ENST00000475084 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FHL3 HGNC ENSG00000183386 72 0 0 49 24 32.8767 CHD5 0 genome.wustl.edu 37 1 6212502 6212502 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 1 6212502 6212502 C - DEL CHD5 ENST00000262450 human ensembl 74_37 -1 known frame_shift_del c.840 p.I281fs 0.813 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 50 0 0 44 13 22.807 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 82 0 0 46 35 43.2099 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992925 + RNA DEL AA AA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 101992924 101992925 AA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180 - - - no_errors CWF19L1 HGNC ENSG00000095485 99 0 0 74 24 24.4898 SH3PXD2A 0 genome.wustl.edu 37 10 105484097 105484098 + Frame_Shift_Ins INS - - G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 105484097 105484098 - G INS SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known frame_shift_ins c.329_328 p.H110fs 1.000:0.989 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 60 0 0 38 5 11.6279 TCF7L2 0 genome.wustl.edu 37 10 114925622 114925622 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 114925622 114925622 C - DEL TCF7L2 ENST00000355995 human ensembl 74_37 +1 known frame_shift_del c.1751 p.S586fs 0.054 NULL pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TCF7L2 HGNC ENSG00000148737 122 0 0 99 23 18.8525 CCDC3 0 genome.wustl.edu 37 10 12940431 12940431 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 12940431 12940431 G - DEL CCDC3 ENST00000378825 human ensembl 74_37 -1 known frame_shift_del c.798 p.Y267fs 0.964 NULL NULL - no_errors CCDC3 HGNC ENSG00000151468 60 0 0 34 13 27.6596 CUBN 0 genome.wustl.edu 37 10 17085918 17085918 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 17085918 17085918 G - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.3737 p.P1246fs 0.000 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 143 0 0 109 19 14.8438 PITRM1 0 genome.wustl.edu 37 10 3205748 3205748 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 3205748 3205748 A - DEL PITRM1 ENST00000488065 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors PITRM1 HGNC ENSG00000107959 9 0 0 3 4 57.1429 ZNF503-AS2 0 genome.wustl.edu 37 10 77160768 77160769 + RNA INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 77160768 77160769 - C INS ZNF503-AS2 ENST00000438638 human ensembl 74_37 +1 known rna NULL NULL 0.123:0.000 - - - no_errors ZNF503-AS2 HGNC ENSG00000237149 14 0 0 4 5 55.5556 KCNMA1 0 genome.wustl.edu 37 10 78729786 78729786 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 91 0 0 78 20 20.4082 TAF3 0 genome.wustl.edu 37 10 8007107 8007107 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 8007107 8007107 A - DEL TAF3 ENST00000344293 human ensembl 74_37 +1 known frame_shift_del c.1634 p.D547fs 0.991 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 44 0 0 38 18 32.1429 WAPAL 0 genome.wustl.edu 37 10 88260442 88260443 + Frame_Shift_Ins INS - - T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 88260442 88260443 - T INS WAPAL ENST00000298767 human ensembl 74_37 -1 known frame_shift_ins c.558_557 p.N186fs 1.000:1.000 NULL pfam_WAPL_prot,superfamily_ARM-type_fold - no_errors WAPAL HGNC ENSG00000062650 165 0 0 135 20 12.9032 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 148 0 0 112 33 22.7586 KIF20B 0 genome.wustl.edu 37 10 91514321 91514321 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 91514321 91514321 A - DEL KIF20B ENST00000416354 human ensembl 74_37 +1 known frame_shift_del c.4484 p.M1497fs 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 KIF20B HGNC ENSG00000138182 59 0 0 47 15 24.1935 EXOC6 0 genome.wustl.edu 37 10 94654754 94654754 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 94654754 94654754 A - DEL EXOC6 ENST00000371547 human ensembl 74_37 +1 known frame_shift_del c.437 p.K147fs 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 198 0 0 138 48 25.8065 SLIT1 0 genome.wustl.edu 37 10 98799862 98799862 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 10 98799862 98799862 C - DEL SLIT1 ENST00000266058 human ensembl 74_37 -1 known frame_shift_del c.2180 p.G727fs 1.000 NULL 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 23 0 0 12 6 33.3333 MMP3 0 genome.wustl.edu 37 11 102713563 102713563 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 102713563 102713563 T - DEL MMP3 ENST00000299855 human ensembl 74_37 -1 known frame_shift_del c.190 p.I64fs 0.965 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 42 0 0 31 12 27.907 C11orf53 0 genome.wustl.edu 37 11 111154907 111154907 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 111154907 111154907 G - DEL C11orf53 ENST00000280325 human ensembl 74_37 +1 known frame_shift_del c.114 p.K40fs 0.981 NULL NULL - no_errors C11orf53 HGNC ENSG00000150750 424 0 0 323 59 15.445 C11orf57 0 genome.wustl.edu 37 11 111953289 111953289 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 111953289 111953289 A - DEL C11orf57 ENST00000393047 human ensembl 74_37 +1 known frame_shift_del c.475 p.K161fs 1.000 NULL NULL - no_errors C11orf57 HGNC ENSG00000150776 80 0 0 55 24 30.3797 DSCAML1 0 genome.wustl.edu 37 11 117389265 117389265 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 117389265 117389265 G - DEL DSCAML1 ENST00000321322 human ensembl 74_37 -1 known frame_shift_del c.1606 p.Q536fs 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAML1 HGNC ENSG00000177103 119 0 0 91 26 22.2222 STT3A 0 genome.wustl.edu 37 11 125472795 125472797 + In_Frame_Del DEL CTC CTC - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 125472795 125472797 CTC - DEL STT3A ENST00000392708 human ensembl 74_37 +1 known in_frame_del c.369_371 p.S125in_frame_del 1.000:1.000:1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3A HGNC ENSG00000134910 93 0 0 93 26 21.8487 ST3GAL4 0 genome.wustl.edu 37 11 126277512 126277512 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 126277512 126277512 C - DEL ST3GAL4 ENST00000356132 human ensembl 74_37 +1 known frame_shift_del c.342 p.K116fs 0.962 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL4 HGNC ENSG00000110080 397 0 0 366 40 9.85222 PRDM10 0 genome.wustl.edu 37 11 129772248 129772249 + In_Frame_Ins INS - - TGG TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 129772248 129772249 - TGG INS PRDM10 ENST00000358825 human ensembl 74_37 -1 known in_frame_ins c.3443_3442 p.1148in_frame_insT 0.998:1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PRDM10 HGNC ENSG00000170325 334 0 0 305 49 13.8418 BRSK2 0 genome.wustl.edu 37 11 1467138 1467139 + Splice_Site DEL GT GT - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 1467138 1467139 GT - DEL BRSK2 ENST00000382179 human ensembl 74_37 +1 known splice_site_del c.1364+1_1364+1 e12+1 1.000:0.999 - - - no_errors BRSK2 HGNC ENSG00000174672 55 0 0 58 9 13.4328 BRSK2 0 genome.wustl.edu 37 11 1478186 1478187 + Frame_Shift_Ins INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 1478186 1478187 - C INS BRSK2 ENST00000308230 human ensembl 74_37 +1 known frame_shift_ins c.2007_2008 p.P672fs 0.999:0.998 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 BRSK2 HGNC ENSG00000174672 25 0 0 24 5 17.2414 PAX6 0 genome.wustl.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 31812317 31812317 G - DEL PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_del c.1166 p.P389fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 120 0 0 89 31 25.8333 PKP3 0 genome.wustl.edu 37 11 400055 400055 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 400055 400055 C - DEL PKP3 ENST00000331563 human ensembl 74_37 +1 known frame_shift_del c.1362 p.L456fs 0.998 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 27 0 0 19 8 29.6296 PHF21A 0 genome.wustl.edu 37 11 45955607 45955607 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 45955607 45955607 G - DEL PHF21A ENST00000257821 human ensembl 74_37 -1 known frame_shift_del c.1958 p.P653fs 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF21A HGNC ENSG00000135365 80 0 0 61 6 8.95522 PSMC3 0 genome.wustl.edu 37 11 47440696 47440696 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 47440696 47440696 C - DEL PSMC3 ENST00000298852 human ensembl 74_37 -1 known frame_shift_del c.1180 p.A394fs 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 115 0 0 119 24 16.7832 ENSG00000254815 0 genome.wustl.edu 37 11 558069 558069 + RNA DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 558069 558069 G - DEL ENSG00000254815 ENST00000527620 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-496I9.1 Clone_based_vega_gene ENSG00000254815 58 0 0 71 6 7.79221 MYRF 0 genome.wustl.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 61539013 61539013 C - DEL MYRF ENST00000278836 human ensembl 74_37 +1 known frame_shift_del c.782 p.S264fs 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 256 1 0.389105 208 47 18.4314 FIBP 0 genome.wustl.edu 37 11 65653077 65653077 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 65653077 65653077 T - DEL FIBP ENST00000338369 human ensembl 74_37 -1 known frame_shift_del c.570 p.K190fs 1.000 pfam_FIBP pfam_FIBP - no_errors FIBP HGNC ENSG00000172500 240 0 0 144 59 29.064 INPPL1 0 genome.wustl.edu 37 11 71948748 71948748 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 71948748 71948748 C - DEL INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_del c.3460 p.R1156fs 0.962 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 34 0 0 40 7 14.8936 AMOTL1 0 genome.wustl.edu 37 11 94532688 94532688 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 11 94532688 94532688 C - DEL AMOTL1 ENST00000433060 human ensembl 74_37 +1 known frame_shift_del c.332 p.P112fs 1.000 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL1 HGNC ENSG00000166025 26 0 0 23 4 14.8148 SLC41A2 0 genome.wustl.edu 37 12 105198777 105198777 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 105198777 105198777 A - DEL SLC41A2 ENST00000549713 human ensembl 74_37 -1 known rna NULL NULL 0.849 - - - no_errors SLC41A2 HGNC ENSG00000136052 45 0 0 53 14 20.8955 TMEM119 0 genome.wustl.edu 37 12 108985933 108985933 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 108985933 108985933 C - DEL TMEM119 ENST00000392806 human ensembl 74_37 -1 known frame_shift_del c.227 p.G76fs 0.532 NULL NULL - no_errors TMEM119 HGNC ENSG00000183160 127 0 0 91 26 22.2222 ACACB 0 genome.wustl.edu 37 12 109671600 109671600 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 109671600 109671600 C - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known frame_shift_del c.4187 p.L1398fs 0.001 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 190 0 0 115 20 14.8148 PPP1CC 0 genome.wustl.edu 37 12 111158948 111158948 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 111158948 111158948 T - DEL PPP1CC ENST00000340766 human ensembl 74_37 -1 known frame_shift_del c.905 p.K302fs 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CC HGNC ENSG00000186298 307 0 0 199 85 29.9296 LRRC43 0 genome.wustl.edu 37 12 122685346 122685346 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 122685346 122685346 C - DEL LRRC43 ENST00000339777 human ensembl 74_37 +1 known frame_shift_del c.1674 p.I561fs 0.997 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 93 0 0 82 9 9.89011 SBNO1 0 genome.wustl.edu 37 12 123794283 123794283 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 123794283 123794283 T - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.3416 p.N1139fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 151 1 0.657895 133 52 28.1081 PDE3A 0 genome.wustl.edu 37 12 20522723 20522723 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 20522723 20522723 G - DEL PDE3A ENST00000359062 human ensembl 74_37 +1 known frame_shift_del c.505 p.E171fs 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 58 0 0 39 5 11.3636 CACNA1C 0 genome.wustl.edu 37 12 2714935 2714935 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 2714935 2714935 G - DEL CACNA1C ENST00000399634 human ensembl 74_37 +1 known frame_shift_del c.3139 p.V1048fs 1.000 pfam_Ion_trans_dom 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 79 0 0 60 12 16.6667 TMTC1 0 genome.wustl.edu 37 12 29667467 29667467 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 29667467 29667467 A - DEL TMTC1 ENST00000256062 human ensembl 74_37 -1 known frame_shift_del c.2054 p.F685fs 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 137 0 0 114 6 5 KIF21A 0 genome.wustl.edu 37 12 39763594 39763594 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 39763594 39763594 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.387 p.K129fs 0.976 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC ENSG00000139116 70 0 0 60 18 23.0769 SCAF11 0 genome.wustl.edu 37 12 46315841 46315841 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 46315841 46315841 T - DEL SCAF11 ENST00000369367 human ensembl 74_37 -1 known frame_shift_del c.4382 p.N1461fs 0.985 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors SCAF11 HGNC ENSG00000139218 423 0 0 282 68 19.4286 KMT2D 0 genome.wustl.edu 37 12 49438211 49438211 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 49438211 49438211 T - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.5058 p.K1686fs 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 160 1 0.621118 107 37 25.6944 TARBP2 0 genome.wustl.edu 37 12 53898183 53898184 + Frame_Shift_Ins INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 53898183 53898184 - C INS TARBP2 ENST00000266987 human ensembl 74_37 +1 known frame_shift_ins c.425_426 p.M145fs 0.999:0.994 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 118 0 0 82 20 19.6078 OR6C4 0 genome.wustl.edu 37 12 55945307 55945307 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 55945307 55945307 T - DEL OR6C4 ENST00000394256 human ensembl 74_37 +1 known frame_shift_del c.297 p.F101fs 0.633 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 OR6C4 HGNC ENSG00000179626 195 0 0 147 42 22.2222 SMARCC2 0 genome.wustl.edu 37 12 56559112 56559113 + Frame_Shift_Ins INS - - G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 56559112 56559113 - G INS SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_ins c.3129_3128 p.G1044fs 1.000:1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 117 1 0.847458 101 23 18.5484 SMARCC2 0 genome.wustl.edu 37 12 56559113 56559113 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 56559113 56559113 G - DEL SMARCC2 ENST00000267064 human ensembl 74_37 -1 known frame_shift_del c.3128 p.P1043fs 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 118 0 0 114 10 8.06452 DCTN2 0 genome.wustl.edu 37 12 57927827 57927827 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 57927827 57927827 C - DEL DCTN2 ENST00000434715 human ensembl 74_37 -1 known frame_shift_del c.593 p.G198fs 1.000 NULL NULL - no_errors DCTN2 HGNC ENSG00000175203 104 0 0 87 25 22.3214 PTPRB 0 genome.wustl.edu 37 12 70949083 70949083 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 70949083 70949083 G - DEL PTPRB ENST00000334414 human ensembl 74_37 -1 known frame_shift_del c.5000 p.P1667fs 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 45 0 0 26 10 27.7778 CEP290 0 genome.wustl.edu 37 12 88524079 88524079 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 88524079 88524079 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.635 p.N212fs 1.000 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 261 0 0 185 43 18.8596 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 30 0 0 32 7 17.9487 ENSG00000253094 0 genome.wustl.edu 37 13 23377306 23377308 + RNA DEL ATT ATT - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 ATT ATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 23377306 23377308 ATT - DEL ENSG00000253094 ENST00000517285 human ensembl 74_37 +1 novel rna NULL NULL 1.000:1.000:1.000 - - - no_errors SNORD36 RFAM ENSG00000253094 27 0 0 17 4 19.0476 RNASEH2B 0 genome.wustl.edu 37 13 51530587 51530587 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 13 51530587 51530587 A - DEL RNASEH2B ENST00000336617 human ensembl 74_37 +1 known frame_shift_del c.916 p.I309fs 0.153 NULL pfam_RNase_H2_suB - no_errors RNASEH2B HGNC ENSG00000136104 10 0 0 5 4 44.4444 ARHGEF40 0 genome.wustl.edu 37 14 21546604 21546604 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 21546604 21546604 G - DEL ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known frame_shift_del c.2203 p.A737fs 0.899 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 185 1 0.537634 123 18 12.766 PPP2R3C 0 genome.wustl.edu 37 14 35577434 35577434 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 35577434 35577434 A - DEL PPP2R3C ENST00000261475 human ensembl 74_37 -1 known frame_shift_del c.413 p.F138fs 1.000 NULL NULL - no_errors PPP2R3C HGNC ENSG00000092020 78 0 0 44 17 27.8689 PSMA6 0 genome.wustl.edu 37 14 35782216 35782216 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 35782216 35782216 A - DEL PSMA6 ENST00000261479 human ensembl 74_37 +1 known frame_shift_del c.539 p.V183fs 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N - no_errors PSMA6 HGNC ENSG00000100902 256 0 0 223 58 20.6406 PSMC6 0 genome.wustl.edu 37 14 53194281 53194281 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 53194281 53194281 A - DEL PSMC6 ENST00000445930 human ensembl 74_37 +1 known frame_shift_del c.1158 p.V388fs 0.976 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 115 0 0 80 35 30.4348 FERMT2 0 genome.wustl.edu 37 14 53386064 53386064 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 53386064 53386064 T - DEL FERMT2 ENST00000343279 human ensembl 74_37 -1 known frame_shift_del c.168 p.D57fs 1.000 NULL pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 177 0 0 100 35 25.9259 TMEM30B 0 genome.wustl.edu 37 14 61747593 61747593 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 61747593 61747593 G - DEL TMEM30B ENST00000355702 human ensembl 74_37 -1 known frame_shift_del c.273 p.C92fs 0.042 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30B HGNC ENSG00000182107 12 0 0 13 4 23.5294 C14orf169 0 genome.wustl.edu 37 14 73959864 73959864 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 73959864 73959864 A - DEL C14orf169 ENST00000531973 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C14orf169 HGNC ENSG00000255242 96 0 0 72 22 23.4043 CCDC176 0 genome.wustl.edu 37 14 74531402 74531404 + Frame_Shift_Del DEL AGA AGA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 14 74531402 74531404 AGA - DEL CCDC176 ENST00000394009 human ensembl 74_37 +1 known frame_shift_del c.1590 p.*530fs 0.001 NULL NULL - no_errors CCDC176 HGNC ENSG00000119636 213 1 0.46729 147 35 19.2308 SPRED1 0 genome.wustl.edu 37 15 38614463 38614463 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 38614463 38614463 A - DEL SPRED1 ENST00000299084 human ensembl 74_37 +1 known frame_shift_del c.229 p.D79fs 1.000 pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 134 1 0.740741 81 28 25.6881 MAP1A 0 genome.wustl.edu 37 15 43819858 43819858 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 43819858 43819858 C - DEL MAP1A ENST00000399453 human ensembl 74_37 +1 known frame_shift_del c.6187 p.R2065fs 0.638 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 88 0 0 91 10 9.90099 SLC12A1 0 genome.wustl.edu 37 15 48527143 48527143 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 48527143 48527143 T - DEL SLC12A1 ENST00000380993 human ensembl 74_37 +1 known frame_shift_del c.1157 p.F388fs 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 134 0 0 86 30 25.8621 RNF111 0 genome.wustl.edu 37 15 59376343 59376343 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 59376343 59376343 C - DEL RNF111 ENST00000434298 human ensembl 74_37 +1 known frame_shift_del c.2340 p.P782fs 0.993 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 105 0 0 56 28 33.3333 ZNF609 0 genome.wustl.edu 37 15 64967247 64967247 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 64967247 64967247 A - DEL ZNF609 ENST00000326648 human ensembl 74_37 +1 known frame_shift_del c.2194 p.K734fs 1.000 NULL pfscan_Znf_C2H2 - no_errors ZNF609 HGNC ENSG00000180357 327 1 0.304878 248 68 21.519 CSPG4 0 genome.wustl.edu 37 15 75981454 75981454 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 75981454 75981454 G - DEL CSPG4 ENST00000308508 human ensembl 74_37 -1 known frame_shift_del c.1952 p.P651fs 0.005 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 91 0 0 66 5 7.04225 SLCO3A1 0 genome.wustl.edu 37 15 92706441 92706441 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 15 92706441 92706441 A - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors SLCO3A1 HGNC ENSG00000176463 68 0 0 46 7 13.2075 ENSG00000261505 0 genome.wustl.edu 37 16 1370143 1370143 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 1370143 1370143 A - DEL ENSG00000261505 ENST00000567829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LA16c-358B7.3 Clone_based_vega_gene ENSG00000261505 38 0 0 28 13 31.7073 RRN3 0 genome.wustl.edu 37 16 15165070 15165070 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 15165070 15165070 T - DEL RRN3 ENST00000198767 human ensembl 74_37 -1 known frame_shift_del c.1167 p.K389fs 0.970 pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 283 0 0 245 72 22.7129 FAM57B 0 genome.wustl.edu 37 16 30041821 30041821 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 30041821 30041821 C - DEL FAM57B ENST00000380495 human ensembl 74_37 -1 known frame_shift_del c.28 p.V10fs 1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 34 0 0 21 2 8.69565 MGRN1 0 genome.wustl.edu 37 16 4701983 4701983 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 4701983 4701983 C - DEL MGRN1 ENST00000262370 human ensembl 74_37 +1 known frame_shift_del c.227 p.H78fs 0.999 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 179 0 0 100 29 22.4806 KCTD19 0 genome.wustl.edu 37 16 67325658 67325658 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 67325658 67325658 G - DEL KCTD19 ENST00000304372 human ensembl 74_37 -1 known frame_shift_del c.2301 p.V768fs 0.051 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 83 0 0 92 25 21.3675 MTSS1L 0 genome.wustl.edu 37 16 70698147 70698147 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 70698147 70698147 G - DEL MTSS1L ENST00000338779 human ensembl 74_37 -1 known frame_shift_del c.1677 p.G560fs 0.001 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 21 0 0 23 5 17.8571 AP1G1 0 genome.wustl.edu 37 16 71803440 71803440 + Splice_Site DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 37 0 0 15 9 37.5 PSMD7 0 genome.wustl.edu 37 16 74334988 74334988 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 74334988 74334988 T - DEL PSMD7 ENST00000219313 human ensembl 74_37 +1 known frame_shift_del c.205 p.L70fs 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 74 0 0 72 15 17.2414 ZC3H18 0 genome.wustl.edu 37 16 88694459 88694459 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 16 88694459 88694459 C - DEL ZC3H18 ENST00000301011 human ensembl 74_37 +1 known frame_shift_del c.2401 p.Q804fs 0.269 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 306 0 0 244 48 16.4384 DNAH9 0 genome.wustl.edu 37 17 11511605 11511606 + Frame_Shift_Ins INS - - A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 11511605 11511606 - A INS DNAH9 ENST00000262442 human ensembl 74_37 +1 known frame_shift_ins c.577_578 p.M195fs 0.999:0.995 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 199 0 0 175 23 11.6162 SSH2 0 genome.wustl.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 27959374 27959375 - G INS SSH2 ENST00000269033 human ensembl 74_37 -1 known frame_shift_ins c.2757_2756 p.E920fs 0.164:0.003 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 496 1 0.201207 404 127 23.9171 TAF15 0 genome.wustl.edu 37 17 34171886 34171886 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 34171886 34171886 G - DEL TAF15 ENST00000588240 human ensembl 74_37 +1 known frame_shift_del c.1583 p.G530fs 1.000 NULL pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors TAF15 HGNC ENSG00000172660 128 0 0 95 37 28.0303 WNK4 0 genome.wustl.edu 37 17 40939870 40939870 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 40939870 40939870 G - DEL WNK4 ENST00000246914 human ensembl 74_37 +1 known frame_shift_del c.1816 p.V608fs 0.004 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 99 0 0 85 25 22.7273 VEZF1 0 genome.wustl.edu 37 17 56056586 56056587 + In_Frame_Ins INS - - TGT TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 56056586 56056587 - TGT INS VEZF1 ENST00000581208 human ensembl 74_37 -1 known in_frame_ins c.1065_1064 p.355in_frame_insQ 0.961:0.995 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 262 0 0 220 32 12.6984 TXNDC17 0 genome.wustl.edu 37 17 6544415 6544417 + In_Frame_Del DEL GAG GAG - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 6544415 6544417 GAG - DEL TXNDC17 ENST00000250101 human ensembl 74_37 +1 known in_frame_del c.13_15 p.E6in_frame_del 1.000:1.000:0.998 superfamily_Thioredoxin-like_fold pfam_DUF953_thioredox,superfamily_Thioredoxin-like_fold - no_errors TXNDC17 HGNC ENSG00000129235 31 0 0 19 8 29.6296 SOX9 0 genome.wustl.edu 37 17 70119910 70119910 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 70119910 70119910 G - DEL SOX9 ENST00000245479 human ensembl 74_37 +1 known frame_shift_del c.912 p.V306fs 0.153 NULL pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 68 0 0 60 5 7.69231 TP53 0 genome.wustl.edu 37 17 7577036 7577036 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 7577036 7577036 G - DEL TP53 ENST00000269305 human ensembl 74_37 -1 known frame_shift_del c.902 p.P301fs 0.137 NULL 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 161 0 0 129 48 27.1186 P4HB 0 genome.wustl.edu 37 17 79803764 79803764 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 17 79803764 79803764 T - DEL P4HB ENST00000331483 human ensembl 74_37 -1 known frame_shift_del c.1160 p.N387fs 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors P4HB HGNC ENSG00000185624 52 0 0 41 7 14.5833 ESCO1 0 genome.wustl.edu 37 18 19154750 19154750 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 19154750 19154750 T - DEL ESCO1 ENST00000269214 human ensembl 74_37 -1 known frame_shift_del c.55 p.S19fs 0.313 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 139 0 0 96 36 27.2727 HRH4 0 genome.wustl.edu 37 18 22057478 22057478 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 22057478 22057478 A - DEL HRH4 ENST00000256906 human ensembl 74_37 +1 known frame_shift_del c.1125 p.K377fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H4_rcpt,prints_GPCR_Rhodpsn - no_errors HRH4 HGNC ENSG00000134489 187 0 0 141 9 6 MOCOS 0 genome.wustl.edu 37 18 33836815 33836815 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 33836815 33836815 T - DEL MOCOS ENST00000588132 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MOCOS HGNC ENSG00000075643 49 0 0 27 11 28.9474 TCF4 0 genome.wustl.edu 37 18 52895520 52895520 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 52895520 52895520 G - DEL TCF4 ENST00000398339 human ensembl 74_37 -1 known frame_shift_del c.2258 p.P753fs 1.000 superfamily_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 134 0 0 125 42 25.1497 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 25 0 0 11 5 31.25 EPOR 0 genome.wustl.edu 37 19 11488894 11488894 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 11488894 11488894 G - DEL EPOR ENST00000222139 human ensembl 74_37 -1 known frame_shift_del c.1293 p.S432fs 0.758 pirsf_Erythropoietin_rcpt pirsf_Erythropoietin_rcpt,pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors EPOR HGNC ENSG00000187266 80 0 0 36 17 32.0755 STK11 0 genome.wustl.edu 37 19 1207077 1207077 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 1207077 1207077 G - DEL STK11 ENST00000326873 human ensembl 74_37 +1 known frame_shift_del c.165 p.E57fs 0.951 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 STK11 HGNC ENSG00000118046 58 0 0 59 8 11.9403 OR10H1 0 genome.wustl.edu 37 19 15917904 15917904 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 15917904 15917904 T - DEL OR10H1 ENST00000334920 human ensembl 74_37 -1 known frame_shift_del c.944 p.N315fs 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 121 0 0 118 36 23.3766 LRFN3 0 genome.wustl.edu 37 19 36431600 36431600 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 36431600 36431600 C - DEL LRFN3 ENST00000246529 human ensembl 74_37 +1 known frame_shift_del c.1273 p.P426fs 0.003 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 121 0 0 132 11 7.69231 FCGBP 0 genome.wustl.edu 37 19 40357606 40357607 + Frame_Shift_Del DEL AC AC - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 40357606 40357607 AC - DEL FCGBP ENST00000221347 human ensembl 74_37 -1 known frame_shift_del c.15707_15706 p.V5236fs 0.188:0.175 pfam_VWF_type-D,smart_Fol_N,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 106 0 0 74 13 14.9425 BAX 0 genome.wustl.edu 37 19 49458971 49458971 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 49458971 49458971 G - DEL BAX ENST00000293288 human ensembl 74_37 +1 known frame_shift_del c.114 p.E41fs 0.588 NULL pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAX HGNC ENSG00000087088 109 0 0 66 58 46.7742 RPS11 0 genome.wustl.edu 37 19 50000524 50000526 + In_Frame_Del DEL AGG AGG - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 50000524 50000526 AGG - DEL RPS11 ENST00000270625 human ensembl 74_37 +1 known in_frame_del c.89_91 p.E31in_frame_del 1.000:1.000:1.000 NULL pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold,prints_Ribosomal_S17,tigrfam_Ribosomal_S17_arc-typ - no_errors RPS11 HGNC ENSG00000142534 91 0 0 82 11 11.828 POLD1 0 genome.wustl.edu 37 19 50905061 50905061 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 50905061 50905061 C - DEL POLD1 ENST00000440232 human ensembl 74_37 +1 known frame_shift_del c.343 p.P116fs 0.175 NULL pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 114 0 0 82 14 14.5833 CACNG6 0 genome.wustl.edu 37 19 54515282 54515282 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 54515282 54515282 C - DEL CACNG6 ENST00000252729 human ensembl 74_37 +1 known frame_shift_del c.622 p.P209fs 0.007 NULL prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG6 HGNC ENSG00000130433 128 0 0 111 19 14.6154 SAFB2 0 genome.wustl.edu 37 19 5587282 5587282 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 5587282 5587282 G - DEL SAFB2 ENST00000252542 human ensembl 74_37 -1 known frame_shift_del c.2834 p.P945fs 0.100 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 47 0 0 29 10 25.641 ZNF776 0 genome.wustl.edu 37 19 58264857 58264857 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 58264857 58264857 A - DEL ZNF776 ENST00000317178 human ensembl 74_37 +1 known frame_shift_del c.359 p.K122fs 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 ZNF776 HGNC ENSG00000152443 128 0 0 98 20 16.9492 ALKBH7 0 genome.wustl.edu 37 19 6374970 6374970 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 19 6374970 6374970 C - DEL ALKBH7 ENST00000245812 human ensembl 74_37 +1 known frame_shift_del c.652 p.P219fs 0.669 NULL NULL - no_errors ALKBH7 HGNC ENSG00000125652 90 0 0 69 6 8 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 261 0 0 150 65 30.2326 NEB 0 genome.wustl.edu 37 2 152363488 152363488 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 152363488 152363488 T - DEL NEB ENST00000397345 human ensembl 74_37 -1 known frame_shift_del c.23491 p.I7831fs 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 115 0 0 89 27 23.2759 COBLL1 0 genome.wustl.edu 37 2 165551296 165551296 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 165551296 165551296 A - DEL COBLL1 ENST00000194871 human ensembl 74_37 -1 known frame_shift_del c.2921 p.L974fs 0.972 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 86 0 0 58 21 26.5823 CALCRL 0 genome.wustl.edu 37 2 188217046 188217046 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 188217046 188217046 A - DEL CALCRL ENST00000392370 human ensembl 74_37 -1 known frame_shift_del c.923 p.F308fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC ENSG00000064989 40 0 0 34 9 20.9302 KCTD18 0 genome.wustl.edu 37 2 201369472 201369472 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 201369472 201369472 T - DEL KCTD18 ENST00000359878 human ensembl 74_37 -1 known frame_shift_del c.371 p.K124fs 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC ENSG00000155729 62 0 0 40 14 25.9259 USP40 0 genome.wustl.edu 37 2 234394237 234394237 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 234394237 234394237 T - DEL USP40 ENST00000450966 human ensembl 74_37 -1 known frame_shift_del c.3477 p.K1159fs 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 46 0 0 26 8 23.5294 SLC4A1AP 0 genome.wustl.edu 37 2 27887073 27887073 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 27887073 27887073 C - DEL SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known frame_shift_del c.454 p.Y154fs 0.744 NULL pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 102 0 0 81 12 12.9032 MSH6 0 genome.wustl.edu 37 2 48030640 48030640 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 48030640 48030640 C - DEL MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_del c.3254 p.F1088fs 0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 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 115 0 0 82 31 27.4336 GGCX 0 genome.wustl.edu 37 2 85780732 85780733 + RNA INS - - T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 85780732 85780733 - T INS GGCX ENST00000482662 human ensembl 74_37 -1 putative rna NULL NULL 0.001:0.004 - - - no_errors GGCX HGNC ENSG00000115486 21 0 0 22 5 18.5185 PTCD3 0 genome.wustl.edu 37 2 86352984 86352984 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 2 86352984 86352984 A - DEL PTCD3 ENST00000254630 human ensembl 74_37 +1 known frame_shift_del c.932 p.K312fs 0.802 NULL NULL - no_errors PTCD3 HGNC ENSG00000132300 52 0 0 50 15 23.0769 PCED1A 0 genome.wustl.edu 37 20 2816204 2816204 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 2816204 2816204 C - DEL PCED1A ENST00000360652 human ensembl 74_37 -1 known frame_shift_del c.1269 p.C425fs 0.001 NULL NULL - no_errors PCED1A HGNC ENSG00000132635 103 0 0 78 13 14.2857 ASXL1 0 genome.wustl.edu 37 20 31022442 31022442 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 31022442 31022442 G - DEL ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_del c.1927 p.G645fs 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 24 0 0 15 3 16.6667 DDX27 0 genome.wustl.edu 37 20 47860464 47860465 + RNA INS - - A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 20 47860464 47860465 - A INS DDX27 ENST00000471144 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.005 - - - no_errors DDX27 HGNC ENSG00000124228 28 0 0 19 4 17.3913 ADNP 0 genome.wustl.edu 37 20 49508204 49508204 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 200 0 0 111 82 42.487 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191157 + RNA DEL AA AA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 21 46191156 46191157 AA - DEL UBE2G2 ENST00000477954 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.000 - - - no_errors UBE2G2 HGNC ENSG00000184787 18 0 0 5 5 50 CECR2 0 genome.wustl.edu 37 22 18022047 18022047 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 18022047 18022047 G - DEL CECR2 ENST00000400573 human ensembl 74_37 +1 novel frame_shift_del c.2149 p.A719fs 0.122 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 46 0 0 40 8 16.6667 EIF3D 0 genome.wustl.edu 37 22 36907059 36907059 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 36907059 36907059 A - DEL EIF3D ENST00000478547 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors EIF3D HGNC ENSG00000100353 67 0 0 48 16 25 ANKRD54 0 genome.wustl.edu 37 22 38228002 38228004 + In_Frame_Del DEL AGG AGG - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 38228002 38228004 AGG - DEL ANKRD54 ENST00000215941 human ensembl 74_37 -1 known in_frame_del c.851_849 p.L284in_frame_del 1.000:1.000:0.994 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD54 HGNC ENSG00000100124 39 0 0 21 5 19.2308 DDX17 0 genome.wustl.edu 37 22 38897210 38897211 + Frame_Shift_Ins INS - - TT TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 38897210 38897211 - TT INS DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_ins c.363_362 p.W122fs 0.993:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 103 0 0 71 15 17.4419 TCF20 0 genome.wustl.edu 37 22 42564716 42564716 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 22 42564716 42564716 G - DEL TCF20 ENST00000359486 human ensembl 74_37 -1 known frame_shift_del c.5826 p.L1943fs 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 29 0 0 26 5 16.129 TBC1D23 0 genome.wustl.edu 37 3 100039736 100039736 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 100039736 100039736 A - DEL TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_del c.1939 p.K649fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 112 0 0 72 17 19.1011 FANCD2 0 genome.wustl.edu 37 3 10078012 10078012 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 10078012 10078012 T - DEL FANCD2 ENST00000287647 human ensembl 74_37 +1 known frame_shift_del c.480 p.F162fs 0.998 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 86 0 0 139 18 11.465 ATP6V1A 0 genome.wustl.edu 37 3 113508677 113508680 + Frame_Shift_Del DEL TATT TATT - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 TATT TATT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 113508677 113508680 TATT - DEL ATP6V1A ENST00000273398 human ensembl 74_37 +1 known frame_shift_del c.978_981 p.Y328fs 1.000:1.000:1.000:1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,superfamily_P-loop_NTPase,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1_a/bsu_N,superfamily_P-loop_NTPase,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 96 0 0 93 6 6.06061 ADCY5 0 genome.wustl.edu 37 3 123044231 123044231 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 123044231 123044231 C - DEL ADCY5 ENST00000462833 human ensembl 74_37 -1 known frame_shift_del c.2026 p.A676fs 0.749 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 375 0 0 234 66 22 PPARG 0 genome.wustl.edu 37 3 12434182 12434182 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 12434182 12434182 A - DEL PPARG ENST00000287820 human ensembl 74_37 +1 known frame_shift_del c.550 p.S186fs 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_PPARgamma_N,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_1Cnucl_rcpt_G,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors PPARG HGNC ENSG00000132170 118 0 0 110 21 16.0305 ZNF148 0 genome.wustl.edu 37 3 124952717 124952718 + Frame_Shift_Ins INS - - T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 124952717 124952718 - T INS ZNF148 ENST00000360647 human ensembl 74_37 -1 known frame_shift_ins c.853_852 p.L284fs 1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF148 HGNC ENSG00000163848 169 0 0 122 47 27.8107 MED12L 0 genome.wustl.edu 37 3 150845627 150845627 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 150845627 150845627 A - DEL MED12L ENST00000474524 human ensembl 74_37 +1 known frame_shift_del c.412 p.E140fs 1.000 pfam_Mediator_Med12 pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 71 0 0 40 19 32.2034 ARHGEF26 0 genome.wustl.edu 37 3 153973130 153973130 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 153973130 153973130 G - DEL ARHGEF26 ENST00000356448 human ensembl 74_37 +1 known frame_shift_del c.2484 p.E830fs 0.998 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 121 0 0 88 16 15.3846 MB21D2 0 genome.wustl.edu 37 3 192516279 192516280 + Frame_Shift_Ins INS - - T TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 192516279 192516280 - T INS MB21D2 ENST00000392452 human ensembl 74_37 -1 known frame_shift_ins c.1372_1371 p.L457fs 1.000:1.000 NULL pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 210 1 0.473934 179 56 23.8298 SCN11A 0 genome.wustl.edu 37 3 38951623 38951623 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 38951623 38951623 A - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1035 p.F345fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 122 0 0 47 26 35.6164 WDR6 0 genome.wustl.edu 37 3 49051382 49051382 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 49051382 49051382 G - DEL WDR6 ENST00000395474 human ensembl 74_37 +1 known frame_shift_del c.2505 p.R838fs 0.007 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 86 0 0 35 7 16.6667 USP19 0 genome.wustl.edu 37 3 49153503 49153503 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 49153503 49153503 C - DEL USP19 ENST00000398888 human ensembl 74_37 -1 known frame_shift_del c.1145 p.G382fs 1.000 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 72 0 0 31 9 22.5 DAG1 0 genome.wustl.edu 37 3 49568688 49568688 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 49568688 49568688 A - DEL DAG1 ENST00000308775 human ensembl 74_37 +1 known frame_shift_del c.744 p.K250fs 0.901 superfamily_Alpha-dystroglycan_domain_2 pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 49 0 0 18 18 50 GLT8D1 0 genome.wustl.edu 37 3 52731827 52731828 + Frame_Shift_Ins INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 52731827 52731828 - C INS GLT8D1 ENST00000266014 human ensembl 74_37 -1 known frame_shift_ins c.239_238 p.A80fs 1.000:1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 139 0 0 64 19 22.8916 DNAH12 0 genome.wustl.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 3 57509313 57509313 T - DEL DNAH12 ENST00000351747 human ensembl 74_37 -1 known frame_shift_del c.276 p.G93fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 19 0 0 30 9 23.0769 PHF17 0 genome.wustl.edu 37 4 129783052 129783052 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 129783052 129783052 C - DEL PHF17 ENST00000226319 human ensembl 74_37 +1 known frame_shift_del c.1175 p.R394fs 0.698 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF17 HGNC ENSG00000077684 218 0 0 179 43 19.3694 PROM1 0 genome.wustl.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 15995680 15995680 T - DEL PROM1 ENST00000447510 human ensembl 74_37 -1 known frame_shift_del c.1697 p.N566fs 0.415 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC ENSG00000007062 184 1 0.540541 103 43 29.4521 CEP44 0 genome.wustl.edu 37 4 175220290 175220290 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 175220290 175220290 A - DEL CEP44 ENST00000426172 human ensembl 74_37 +1 known frame_shift_del c.18 p.R8fs 1.000 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 113 0 0 94 28 22.9508 SNX25 0 genome.wustl.edu 37 4 186272695 186272695 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 186272695 186272695 A - DEL SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_del c.1906 p.N638fs 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,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 SNX25 HGNC ENSG00000109762 142 0 0 114 33 22.449 FAM193A 0 genome.wustl.edu 37 4 2698177 2698177 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 2698177 2698177 A - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.2491 p.M833fs 0.997 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 117 0 0 94 40 29.8507 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 122 0 0 81 29 26.3636 KLHL5 0 genome.wustl.edu 37 4 39116879 39116879 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 39116879 39116879 G - DEL KLHL5 ENST00000359687 human ensembl 74_37 +1 known frame_shift_del c.2140 p.Y716fs 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL5 HGNC ENSG00000109790 105 0 0 69 17 19.7674 C4orf40 0 genome.wustl.edu 37 4 71024318 71024318 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 71024318 71024318 T - DEL C4orf40 ENST00000344526 human ensembl 74_37 +1 known frame_shift_del c.349 p.S119fs 0.000 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 301 0 0 267 51 16.0377 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 87 0 0 79 21 21 WDFY3 0 genome.wustl.edu 37 4 85676452 85676453 + Frame_Shift_Ins INS - - A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 85676452 85676453 - A INS WDFY3 ENST00000295888 human ensembl 74_37 -1 known frame_shift_ins c.5526_5525 p.L1842fs 0.378:0.996 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 116 0 0 82 22 21.1538 ARHGAP24 0 genome.wustl.edu 37 4 86916554 86916554 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 4 86916554 86916554 T - DEL ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known frame_shift_del c.1747 p.F584fs 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 183 0 0 139 30 17.7515 DMXL1 0 genome.wustl.edu 37 5 118465026 118465026 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 118465026 118465026 T - DEL DMXL1 ENST00000539542 human ensembl 74_37 +1 known frame_shift_del c.1223 p.L410fs 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 107 0 0 63 21 25 PCDHGC3 0 genome.wustl.edu 37 5 140857728 140857728 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 140857728 140857728 C - DEL PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known frame_shift_del c.2045 p.R684fs 0.002 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 388 0 0 308 83 21.2276 TRIO 0 genome.wustl.edu 37 5 14477004 14477004 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 14477004 14477004 T - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6085 p.L2031fs 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_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 34 0 0 47 26 35.6164 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 114 0 0 106 33 23.741 RBM22 0 genome.wustl.edu 37 5 150072483 150072483 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 150072483 150072483 G - DEL RBM22 ENST00000199814 human ensembl 74_37 -1 known frame_shift_del c.1106 p.P369fs 1.000 NULL pfam_RRM_dom,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM22 HGNC ENSG00000086589 216 0 0 153 55 26.4423 RUFY1 0 genome.wustl.edu 37 5 179034632 179034634 + In_Frame_Del DEL AGA AGA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 179034632 179034634 AGA - DEL RUFY1 ENST00000319449 human ensembl 74_37 +1 known in_frame_del c.1955_1957 p.K653in_frame_del 1.000:0.824:1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_RING pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 146 0 0 96 22 18.6441 ZNF131 0 genome.wustl.edu 37 5 43173517 43173517 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 43173517 43173517 A - DEL ZNF131 ENST00000399534 human ensembl 74_37 +1 known frame_shift_del c.1152 p.G387fs 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 ZNF131 HGNC ENSG00000172262 59 0 0 50 13 20.6349 WDR41 0 genome.wustl.edu 37 5 76728856 76728856 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 76728856 76728856 A - DEL WDR41 ENST00000512033 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors WDR41 HGNC ENSG00000164253 38 0 0 27 10 27.027 CKMT2-AS1 0 genome.wustl.edu 37 5 80515513 80515513 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 80515513 80515513 T - DEL CKMT2-AS1 ENST00000503483 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CKMT2-AS1 HGNC ENSG00000247572 93 0 0 84 34 28.8136 RASA1 0 genome.wustl.edu 37 5 86564685 86564686 + Frame_Shift_Ins INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 5 86564685 86564686 - C INS RASA1 ENST00000274376 human ensembl 74_37 +1 known frame_shift_ins c.417_418 p.Y141fs 0.775:1.000 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 50 0 0 46 6 11.5385 HS3ST5 0 genome.wustl.edu 37 6 114378456 114378456 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 114378456 114378456 A - DEL HS3ST5 ENST00000312719 human ensembl 74_37 -1 known frame_shift_del c.1006 p.Y336fs 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST5 HGNC ENSG00000249853 194 0 0 121 42 25.7669 MED23 0 genome.wustl.edu 37 6 131914220 131914222 + In_Frame_Del DEL AGT AGT - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AGT AGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 131914220 131914222 AGT - DEL MED23 ENST00000368058 human ensembl 74_37 -1 known in_frame_del c.3342_3340 p.T1114in_frame_del 1.000:1.000:1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 112 0 0 90 23 20.354 JARID2 0 genome.wustl.edu 37 6 15511598 15511598 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 15511598 15511598 C - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.2918 p.P974fs 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 130 0 0 80 11 12.0879 ARID1B 0 genome.wustl.edu 37 6 157522190 157522190 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 157522190 157522190 C - DEL ARID1B ENST00000367148 human ensembl 74_37 +1 known frame_shift_del c.4582 p.P1529fs 0.715 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 110 0 0 71 20 21.978 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 74 0 0 68 16 19.0476 SFT2D1 0 genome.wustl.edu 37 6 166739518 166739518 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 166739518 166739518 A - DEL SFT2D1 ENST00000494682 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors SFT2D1 HGNC ENSG00000198818 28 0 0 26 10 27.7778 HLA-B 0 genome.wustl.edu 37 6 31322269 31322270 + Frame_Shift_Del DEL GA GA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 31322269 31322270 GA - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.1080_1079 p.L360fs 0.173:0.296 pfam_MHC_I_a_C 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-B HGNC ENSG00000234745 99 0 0 40 22 35.4839 TCP11 0 genome.wustl.edu 37 6 35096881 35096882 + Frame_Shift_Ins INS - - G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 35096881 35096882 - G INS TCP11 ENST00000311875 human ensembl 74_37 -1 known frame_shift_ins c.354_353 p.D119fs 0.988:1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC ENSG00000124678 108 0 0 50 19 27.5362 TBC1D22B 0 genome.wustl.edu 37 6 37250063 37250063 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 37250063 37250063 C - DEL TBC1D22B ENST00000373491 human ensembl 74_37 +1 known frame_shift_del c.524 p.P177fs 0.996 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 129 0 0 46 21 31.3433 PRICKLE4 0 genome.wustl.edu 37 6 41752759 41752759 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 41752759 41752759 G - DEL PRICKLE4 ENST00000335515 human ensembl 74_37 +1 known frame_shift_del c.327 p.V111fs 0.991 pfam_PET_domain pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE4 HGNC ENSG00000124593 196 0 0 71 27 27.551 TTBK1 0 genome.wustl.edu 37 6 43227330 43227330 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 43227330 43227330 C - DEL TTBK1 ENST00000259750 human ensembl 74_37 +1 known frame_shift_del c.1310 p.P439fs 0.671 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 35 0 0 11 2 15.3846 TDRD6 0 genome.wustl.edu 37 6 46660415 46660415 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 46660415 46660415 A - DEL TDRD6 ENST00000316081 human ensembl 74_37 +1 known frame_shift_del c.4550 p.M1520fs 0.009 pfam_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 139 0 0 59 23 28.0488 COL19A1 0 genome.wustl.edu 37 6 70639396 70639396 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 70639396 70639396 T - DEL COL19A1 ENST00000322773 human ensembl 74_37 +1 known frame_shift_del c.470 p.F158fs 0.999 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 140 0 0 75 31 29.2453 KIAA1009 0 genome.wustl.edu 37 6 84896233 84896233 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 84896233 84896233 A - DEL KIAA1009 ENST00000403245 human ensembl 74_37 -1 known frame_shift_del c.1218 p.F406fs 0.000 NULL NULL - no_errors KIAA1009 HGNC ENSG00000135315 220 0 0 150 52 25.7426 ORC3 0 genome.wustl.edu 37 6 88318838 88318838 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 88318838 88318838 A - DEL ORC3 ENST00000257789 human ensembl 74_37 +1 known frame_shift_del c.604 p.R204fs 1.000 pfam_ORC3 pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 141 0 0 108 43 28.4768 GABRR2 0 genome.wustl.edu 37 6 89975427 89975429 + In_Frame_Del DEL AAG AAG - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 89975427 89975429 AAG - DEL GABRR2 ENST00000602399 human ensembl 74_37 -1 known in_frame_del c.869_867 p.F289in_frame_del 1.000:1.000:1.000 superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,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_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 96 0 0 112 6 5.08475 UFL1 0 genome.wustl.edu 37 6 96986656 96986656 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 6 96986656 96986656 C - DEL UFL1 ENST00000369278 human ensembl 74_37 +1 known frame_shift_del c.1128 p.R377fs 1.000 NULL pfam_E3_UFM1_ligase_1 - no_errors UFL1 HGNC ENSG00000014123 111 0 0 70 30 30 LRRC17 0 genome.wustl.edu 37 7 102584993 102584993 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 102584993 102584993 A - DEL LRRC17 ENST00000339431 human ensembl 74_37 +1 known frame_shift_del c.1265 p.K424fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC17 HGNC ENSG00000128606 107 0 0 85 42 33.0709 KMT2C 0 genome.wustl.edu 37 7 151845524 151845524 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 151845524 151845524 A - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.13659 p.F4553fs 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 246 0 0 149 57 27.6699 ABCB4 0 genome.wustl.edu 37 7 87032452 87032452 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 87032452 87032452 T - DEL ABCB4 ENST00000265723 human ensembl 74_37 -1 known frame_shift_del c.3653 p.K1218fs 1.000 pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 283 0 0 234 87 27.1028 SLC25A13 0 genome.wustl.edu 37 7 95751062 95751062 + RNA DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 7 95751062 95751062 A - DEL SLC25A13 ENST00000494085 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC25A13 HGNC ENSG00000004864 173 0 0 158 46 22.549 LRP12 0 genome.wustl.edu 37 8 105509429 105509429 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 105509429 105509429 A - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.1294 p.C432fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 202 0 0 193 71 26.8939 EIF3E 0 genome.wustl.edu 37 8 109247236 109247236 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 109247236 109247236 A - DEL EIF3E ENST00000220849 human ensembl 74_37 -1 known frame_shift_del c.462 p.F154fs 1.000 pirsf_eIF3e pfam_eIF3e_N,pfam_PCI_dom,smart_PCI_dom,pirsf_eIF3e - no_errors EIF3E HGNC ENSG00000104408 62 0 0 101 18 15.1261 MTMR9 0 genome.wustl.edu 37 8 11162509 11162509 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 11162509 11162509 A - DEL MTMR9 ENST00000221086 human ensembl 74_37 +1 known frame_shift_del c.577 p.N195fs 0.997 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom - no_errors MTMR9 HGNC ENSG00000104643 88 0 0 74 17 18.6813 CSMD3 0 genome.wustl.edu 37 8 113241029 113241029 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 113241029 113241029 A - DEL CSMD3 ENST00000297405 human ensembl 74_37 -1 known frame_shift_del c.10920 p.F3640fs 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 75 0 0 118 25 17.4825 TAF2 0 genome.wustl.edu 37 8 120797490 120797490 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 120797490 120797490 T - DEL TAF2 ENST00000378164 human ensembl 74_37 -1 known frame_shift_del c.1810 p.I604fs 1.000 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 70 0 0 74 19 20.4301 MTSS1 0 genome.wustl.edu 37 8 125580781 125580782 + Frame_Shift_Ins INS - - A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 125580781 125580782 - A INS MTSS1 ENST00000524090 human ensembl 74_37 -1 novel frame_shift_ins c.127_126 p.A42fs 0.050:0.028 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 52 0 0 53 51 49.0385 LZTS1 0 genome.wustl.edu 37 8 20110677 20110677 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 20110677 20110677 G - DEL LZTS1 ENST00000265801 human ensembl 74_37 -1 known frame_shift_del c.765 p.I256fs 0.250 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 164 0 0 122 14 10.2941 KCTD9 0 genome.wustl.edu 37 8 25290078 25290078 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 25290078 25290078 T - DEL KCTD9 ENST00000221200 human ensembl 74_37 -1 known frame_shift_del c.995 p.N332fs 1.000 pfam_5peptide_repeat pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 232 0 0 157 52 24.8804 KCTD9 0 genome.wustl.edu 37 8 25293788 25293788 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 25293788 25293788 A - DEL KCTD9 ENST00000221200 human ensembl 74_37 -1 known frame_shift_del c.626 p.L209fs 1.000 NULL pfam_5peptide_repeat,pfam_T1-type_BTB,pfam_K_channel_plant,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD9 HGNC ENSG00000104756 206 0 0 193 58 23.1076 POLB 0 genome.wustl.edu 37 8 42213041 42213041 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 42213041 42213041 A - DEL POLB ENST00000265421 human ensembl 74_37 +1 known frame_shift_del c.378 p.N128fs 0.999 pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 83 0 0 59 20 25.3165 RP1 0 genome.wustl.edu 37 8 55538813 55538813 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 55538813 55538813 A - DEL RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_del c.2371 p.R793fs 0.177 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 67 0 0 85 13 13.2653 RPS20 0 genome.wustl.edu 37 8 56986697 56986697 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 56986697 56986697 T - DEL RPS20 ENST00000009589 human ensembl 74_37 -1 known frame_shift_del c.25 p.T9fs 1.000 NULL pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom,prints_Ribosomal_S10,tigrfam_Ribosomal_S10_euk/arc - no_errors RPS20 HGNC ENSG00000008988 143 0 0 171 32 15.7635 SLC7A13 0 genome.wustl.edu 37 8 87229783 87229784 + Frame_Shift_Ins INS - - A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 87229783 87229784 - A INS SLC7A13 ENST00000297524 human ensembl 74_37 -1 known frame_shift_ins c.1095_1094 p.T366fs 0.000:0.003 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 96 0 0 62 50 44.6429 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 114 0 0 62 70 53.0303 MSANTD3 0 genome.wustl.edu 37 9 103213137 103213137 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 103213137 103213137 A - DEL MSANTD3 ENST00000395067 human ensembl 74_37 +1 known frame_shift_del c.717 p.M241fs 1.000 NULL NULL - no_errors MSANTD3 HGNC ENSG00000066697 87 0 0 52 19 26.7606 OR1L3 0 genome.wustl.edu 37 9 125437936 125437936 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 403 0 0 318 106 25 SETX 0 genome.wustl.edu 37 9 135201742 135201742 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 135201742 135201742 A - DEL SETX ENST00000372169 human ensembl 74_37 -1 known frame_shift_del c.5243 p.F1748fs 1.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 93 0 0 51 10 16.3934 AK8 0 genome.wustl.edu 37 9 135753607 135753607 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 135753607 135753607 G - DEL AK8 ENST00000298545 human ensembl 74_37 -1 known frame_shift_del c.36 p.E13fs 0.965 superfamily_cAMP_dep_PK_reg_su_I/II_a/b pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC ENSG00000165695 60 0 0 52 10 16.129 LINC00094 0 genome.wustl.edu 37 9 136899776 136899776 + RNA DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 136899776 136899776 C - DEL LINC00094 ENST00000605164 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00094 HGNC ENSG00000235106 64 0 0 38 16 29.6296 WDR5 0 genome.wustl.edu 37 9 137019598 137019598 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 137019598 137019598 C - DEL WDR5 ENST00000358625 human ensembl 74_37 +1 known frame_shift_del c.642 p.V217fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR5 HGNC ENSG00000196363 512 0 0 356 89 20 EHMT1 0 genome.wustl.edu 37 9 140707505 140707506 + Frame_Shift_Del DEL GA GA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 140707505 140707506 GA - DEL EHMT1 ENST00000460843 human ensembl 74_37 +1 known frame_shift_del c.2915_2916 p.E973fs 1.000:0.218 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 143 0 0 114 26 18.5714 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 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 114 1 0.869565 96 23 19.3277 RFX3 0 genome.wustl.edu 37 9 3277341 3277342 + Frame_Shift_Ins INS - - A TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 3277341 3277342 - A INS RFX3 ENST00000382004 human ensembl 74_37 -1 known frame_shift_ins c.972_971 p.L324fs 1.000:1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX3 HGNC ENSG00000080298 173 0 0 115 35 23.3333 B4GALT1 0 genome.wustl.edu 37 9 33115994 33115994 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 33115994 33115994 A - DEL B4GALT1 ENST00000379731 human ensembl 74_37 -1 known frame_shift_del c.954 p.F318fs 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT1 HGNC ENSG00000086062 93 0 0 80 30 27.2727 NAA35 0 genome.wustl.edu 37 9 88631578 88631578 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 88631578 88631578 A - DEL NAA35 ENST00000361671 human ensembl 74_37 +1 known frame_shift_del c.1693 p.K567fs 1.000 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC ENSG00000135040 46 0 0 41 12 22.6415 SECISBP2 0 genome.wustl.edu 37 9 91972141 91972141 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 91972141 91972141 T - DEL SECISBP2 ENST00000496597 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SECISBP2 HGNC ENSG00000187742 23 0 0 19 6 24 SLC35D2 0 genome.wustl.edu 37 9 99098997 99098998 + Splice_Site INS - - C TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 9 99098997 99098998 - C INS SLC35D2 ENST00000253270 human ensembl 74_37 -1 known splice_site_ins c.752+1_752+1 e9+1 1.000:1.000 - - - no_errors SLC35D2 HGNC ENSG00000130958 8 0 0 7 4 36.3636 SEPT6 0 genome.wustl.edu 37 X 118767398 118767398 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 118767398 118767398 T - DEL SEPT6 ENST00000394617 human ensembl 74_37 -1 known frame_shift_del c.1104 p.E369fs 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT6 HGNC ENSG00000125354 621 0 0 714 167 18.9557 XPNPEP2 0 genome.wustl.edu 37 X 128890517 128890518 + Frame_Shift_Ins INS - - G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 128890517 128890518 - G INS XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known frame_shift_ins c.1353_1354 p.Q453fs 0.887:0.999 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 148 0 0 120 60 33.3333 OFD1 0 genome.wustl.edu 37 X 13787350 13787350 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 13787350 13787350 T - DEL OFD1 ENST00000490265 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors OFD1 HGNC ENSG00000046651 93 0 0 83 16 16.1616 SPANXN3 0 genome.wustl.edu 37 X 142605149 142605149 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 142605149 142605149 T - DEL SPANXN3 ENST00000370503 human ensembl 74_37 -1 known frame_shift_del c.71 p.N24fs 0.000 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN3 HGNC ENSG00000189252 371 1 0.268817 349 87 19.9541 PLXNB3 0 genome.wustl.edu 37 X 153042691 153042691 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 153042691 153042691 G - DEL PLXNB3 ENST00000538966 human ensembl 74_37 +1 known frame_shift_del c.5025 p.V1678fs 0.849 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 13 0 0 18 3 14.2857 CTPS2 0 genome.wustl.edu 37 X 16720875 16720875 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 16720875 16720875 A - DEL CTPS2 ENST00000359276 human ensembl 74_37 -1 known frame_shift_del c.151 p.S51fs 1.000 pfam_CTP_synthase_N,superfamily_P-loop_NTPase,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE,pfam_Peptidase_C26,superfamily_P-loop_NTPase,tigrfam_CTP_synthase - no_errors CTPS2 HGNC ENSG00000047230 274 0 0 328 47 12.5333 SCML2 0 genome.wustl.edu 37 X 18265925 18265926 + Frame_Shift_Del DEL GA GA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 18265925 18265926 GA - DEL SCML2 ENST00000251900 human ensembl 74_37 -1 known frame_shift_del c.1534_1533 p.P512fs 0.998:0.977 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 162 0 0 175 32 15.4589 PPP2R3B 0 genome.wustl.edu 37 X 302052 302052 + Frame_Shift_Del DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 302052 302052 T - DEL PPP2R3B ENST00000390665 human ensembl 74_37 -1 known frame_shift_del c.1165 p.T389fs 1.000 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 311 0 0 334 75 18.3374 BCOR 0 genome.wustl.edu 37 X 39916480 39916480 + Frame_Shift_Del DEL C C - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 39916480 39916480 C - DEL BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_del c.4523 p.G1508fs 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 BCOR HGNC ENSG00000183337 71 0 0 82 15 15.4639 DDX3X 0 genome.wustl.edu 37 X 41207100 41207100 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 41207100 41207100 T - DEL DDX3X ENST00000478993 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DDX3X HGNC ENSG00000215301 15 0 0 13 7 35 KDM6A 0 genome.wustl.edu 37 X 44935952 44935952 + Frame_Shift_Del DEL A A - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 44935952 44935952 A - DEL KDM6A ENST00000382899 human ensembl 74_37 +1 known frame_shift_del c.2734 p.N913fs 1.000 NULL pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 104 0 0 92 39 29.771 PIM2 0 genome.wustl.edu 37 X 48776072 48776073 + Frame_Shift_Ins INS - - G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 48776072 48776073 - G INS PIM2 ENST00000376509 human ensembl 74_37 -1 known frame_shift_ins c.40_39 p.G13fs 0.007:0.004 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 PIM2 HGNC ENSG00000102096 33 0 0 55 15 21.4286 PRICKLE3 0 genome.wustl.edu 37 X 49040116 49040117 + Frame_Shift_Del DEL GT GT - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 49040116 49040117 GT - DEL PRICKLE3 ENST00000536904 human ensembl 74_37 -1 known frame_shift_del c.179_178 p.T60fs 0.149:0.119 NULL pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM - no_errors PRICKLE3 HGNC ENSG00000012211 40 0 0 32 11 25.5814 FAAH2 0 genome.wustl.edu 37 X 57515386 57515387 + RNA INS - - TG TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 57515386 57515387 - TG INS FAAH2 ENST00000491179 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors FAAH2 HGNC ENSG00000165591 83 0 0 74 20 21.2766 IL2RG 0 genome.wustl.edu 37 X 70327614 70327614 + Frame_Shift_Del DEL G G - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 70327614 70327614 G - DEL IL2RG ENST00000374202 human ensembl 74_37 -1 known frame_shift_del c.1082 p.P361fs 0.874 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 54 0 0 39 24 38.0952 MAP2K4P1 0 genome.wustl.edu 37 X 72744763 72744763 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 72744763 72744763 T - DEL MAP2K4P1 ENST00000602584 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors MAP2K4P1 HGNC ENSG00000269904 50 0 0 43 12 21.8182 PGK1 0 genome.wustl.edu 37 X 77380774 77380774 + RNA DEL T T - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 77380774 77380774 T - DEL PGK1 ENST00000476531 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PGK1 HGNC ENSG00000102144 45 0 0 39 29 42.6471 HMGN5 0 genome.wustl.edu 37 X 80377176 80377177 + RNA DEL AA AA - TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 80377176 80377177 AA - DEL HMGN5 ENST00000491275 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HMGN5 HGNC ENSG00000198157 37 0 0 27 14 34.1463 PCDH19 0 genome.wustl.edu 37 X 99662504 99662505 + Frame_Shift_Ins INS - - G TCGA-BR-4363-01A-01D-1158-08 TCGA-BR-4363-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b31fcaf7-ccd9-4320-a1ae-e59c4450386c 8814f33d-2e46-4c3f-9a03-0c1c2d9ec106 X 99662504 99662505 - G INS PCDH19 ENST00000373034 human ensembl 74_37 -1 known frame_shift_ins c.1092_1091 p.Y366fs 0.984:1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 118 0 0 157 15 8.72093