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 HIAT1 0 genome.wustl.edu 37 1 100546165 100546165 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 100546165 100546165 A G SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known missense c.1216 p.T406A 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 271 0 0 106 59 35.7576 UBE4B 0 genome.wustl.edu 37 1 10166465 10166465 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 10166465 10166465 G A SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known silent c.1020 p.A340 0.002 NULL pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 209 0 0 75 34 31.1927 COL11A1 0 genome.wustl.edu 37 1 103345424 103345424 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 103345424 103345424 T C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.5125 p.T1709A 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 COL11A1 HGNC ENSG00000060718 116 0 0 47 40 45.977 CASZ1 0 genome.wustl.edu 37 1 10713683 10713683 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 10713683 10713683 T C SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.2431 p.T811A 0.149 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 59 0 0 25 12 32.4324 VAV3 0 genome.wustl.edu 37 1 108116789 108116789 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 108116789 108116789 G A SNP VAV3 ENST00000370056 human ensembl 74_37 -1 known silent c.2382 p.I794 0.953 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain,prints_SM22_calponin - no_errors VAV3 HGNC ENSG00000134215 180 0 0 102 57 35.8491 GPSM2 0 genome.wustl.edu 37 1 109440708 109440708 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 109440708 109440708 C T SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known missense c.542 p.A181V 1.000 smart_TPR_repeat pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 150 0 0 75 31 29.2453 CELSR2 0 genome.wustl.edu 37 1 109793562 109793562 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 109793562 109793562 T C SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.861 p.P287 0.197 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 137 0 0 60 29 32.5843 GSTM5 0 genome.wustl.edu 37 1 110257571 110257571 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 110257571 110257571 G T SNP GSTM5 ENST00000369812 human ensembl 74_37 +1 known missense c.420 p.E140D 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu - no_errors GSTM5 HGNC ENSG00000134201 199 0 0 70 30 30 KCNA3 0 genome.wustl.edu 37 1 111217183 111217183 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 111217183 111217183 G A SNP KCNA3 ENST00000369769 human ensembl 74_37 -1 known silent c.249 p.C83 0.392 prints_K_chnl_volt-dep_Kv1.3 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_Kv1.3,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA3 HGNC ENSG00000177272 29 0 0 5 6 54.5455 TTLL10 0 genome.wustl.edu 37 1 1120411 1120411 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 1120411 1120411 A G SNP TTLL10 ENST00000379289 human ensembl 74_37 +1 known silent c.1323 p.E441 0.595 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL10 HGNC ENSG00000162571 71 0 0 22 9 29.0323 AP4B1 0 genome.wustl.edu 37 1 114442703 114442703 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 114442703 114442703 T C SNP AP4B1 ENST00000256658 human ensembl 74_37 -1 known missense c.937 p.S313G 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4 - no_errors AP4B1 HGNC ENSG00000134262 263 0 0 208 14 6.30631 PTCHD2 0 genome.wustl.edu 37 1 11561798 11561798 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 11561798 11561798 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.749 p.R250H 0.834 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 27 0 0 9 4 30.7692 TTF2 0 genome.wustl.edu 37 1 117618443 117618443 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 117618443 117618443 C T SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.1237 p.R413W 0.995 NULL 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 87 0 0 40 17 29.8246 SPAG17 0 genome.wustl.edu 37 1 118509330 118509330 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 118509330 118509330 G A SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.6434 p.T2145I 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 138 0 0 75 11 12.7907 PLOD1 0 genome.wustl.edu 37 1 12024291 12024291 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 12024291 12024291 C T SNP PLOD1 ENST00000376369 human ensembl 74_37 +1 known missense c.1403 p.A468V 0.998 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 453 0 0 120 69 36.5079 MIIP 0 genome.wustl.edu 37 1 12090027 12090027 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 12090027 12090027 C T SNP MIIP ENST00000466860 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIIP HGNC ENSG00000116691 43 0 0 16 11 40.7407 PUSL1 0 genome.wustl.edu 37 1 1244909 1244909 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 1244909 1244909 C T SNP PUSL1 ENST00000379031 human ensembl 74_37 +1 known silent c.399 p.R133 0.629 superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA pfam_PsdUridine_synth_TruA_a/b_dom,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruA - no_errors PUSL1 HGNC ENSG00000169972 35 0 0 13 4 23.5294 CHD1L 0 genome.wustl.edu 37 1 146767247 146767247 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 146767247 146767247 T C SNP CHD1L ENST00000467213 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHD1L HGNC ENSG00000131778 12 0 0 14 12 46.1538 HIST2H2BB 0 genome.wustl.edu 37 1 149399184 149399184 + RNA SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 149399184 149399184 G T SNP HIST2H2BB ENST00000609585 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors HIST2H2BB HGNC ENSG00000240929 89 0 0 53 21 28.3784 CA14 0 genome.wustl.edu 37 1 150233969 150233969 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 150233969 150233969 C T SNP CA14 ENST00000369111 human ensembl 74_37 +1 known missense c.188 p.A63V 0.003 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 93 0 0 29 17 36.9565 NPR1 0 genome.wustl.edu 37 1 153658344 153658344 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 153658344 153658344 A G SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known silent c.1668 p.T556 0.769 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 78 0 0 39 19 32.7586 NPR1 0 genome.wustl.edu 37 1 153660166 153660166 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 153660166 153660166 T C SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known missense c.2149 p.S717P 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 261 0 0 104 53 33.758 KCNN3 0 genome.wustl.edu 37 1 154841703 154841703 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 154841703 154841703 G A SNP KCNN3 ENST00000271915 human ensembl 74_37 -1 novel silent c.738 p.A246 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 130 0 0 59 35 37.234 ENSG00000231064 0 genome.wustl.edu 37 1 155170205 155170205 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 155170205 155170205 A G SNP ENSG00000231064 ENST00000436772 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000231064 147 0 0 74 20 21.2766 ASH1L 0 genome.wustl.edu 37 1 155308103 155308103 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 155308103 155308103 T C SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known silent c.8595 p.E2865 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 199 0 0 101 7 6.48148 TMEM51 0 genome.wustl.edu 37 1 15541718 15541718 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 15541718 15541718 T C SNP TMEM51 ENST00000376008 human ensembl 74_37 +1 known silent c.135 p.A45 0.023 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 355 0 0 99 51 34 C1orf85 0 genome.wustl.edu 37 1 156263285 156263285 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 156263285 156263285 C T SNP C1orf85 ENST00000362007 human ensembl 74_37 -1 known missense c.881 p.R294Q 0.882 NULL NULL - no_errors C1orf85 HGNC ENSG00000198715 69 0 0 20 17 45.9459 LRRC71 0 genome.wustl.edu 37 1 156899200 156899200 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 156899200 156899200 C T SNP LRRC71 ENST00000337428 human ensembl 74_37 +1 known silent c.1125 p.G375 0.997 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC71 HGNC ENSG00000160838 71 0 0 12 10 45.4545 ARHGEF11 0 genome.wustl.edu 37 1 156915929 156915929 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 156915929 156915929 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.2720 p.R907Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 50 0 0 25 7 21.875 CD1A 0 genome.wustl.edu 37 1 158225951 158225951 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 158225951 158225951 C A SNP CD1A ENST00000289429 human ensembl 74_37 +1 known missense c.483 p.F161L 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1A HGNC ENSG00000158477 147 0 0 83 45 35.1562 OR10K1 0 genome.wustl.edu 37 1 158435710 158435710 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 158435710 158435710 A T SNP OR10K1 ENST00000289451 human ensembl 74_37 +1 known missense c.359 p.Y120F 0.994 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 OR10K1 HGNC ENSG00000173285 248 0 0 128 69 35.0254 SPTA1 0 genome.wustl.edu 37 1 158644339 158644339 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 158644339 158644339 C T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.1239 p.Q413 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 255 0 0 122 58 32.2222 PYHIN1 0 genome.wustl.edu 37 1 158908285 158908285 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 158908285 158908285 A C SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known missense c.364 p.S122R 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 122 0 0 30 24 44.4444 IFI16 0 genome.wustl.edu 37 1 159019338 159019338 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 159019338 159019338 C A SNP IFI16 ENST00000295809 human ensembl 74_37 +1 known silent c.1614 p.P538 0.000 NULL pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 137 0 0 66 25 27.4725 NCSTN 0 genome.wustl.edu 37 1 160325747 160325747 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 160325747 160325747 C T SNP NCSTN ENST00000294785 human ensembl 74_37 +1 known missense c.1550 p.T517M 1.000 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 72 0 0 24 6 20 USP21 0 genome.wustl.edu 37 1 161133984 161133984 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 161133984 161133984 C T SNP USP21 ENST00000289865 human ensembl 74_37 +1 known missense c.1249 p.R417W 0.859 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP21 HGNC ENSG00000143258 101 0 0 46 20 30.303 FCRLB 0 genome.wustl.edu 37 1 161697204 161697204 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 161697204 161697204 G A SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known missense c.1033 p.G345S 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 78 0 0 27 10 27.027 SPEN 0 genome.wustl.edu 37 1 16247461 16247461 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 16247461 16247461 G A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.1732 p.G578S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 53 0 0 21 9 30 POGK 0 genome.wustl.edu 37 1 166818871 166818871 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 166818871 166818871 C T SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.1055 p.A352V 0.001 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 136 1 0.729927 41 30 42.2535 NBPF1 0 genome.wustl.edu 37 1 16918375 16918375 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 16918375 16918375 C T SNP NBPF1 ENST00000392963 human ensembl 74_37 -1 known missense c.142 p.A48T 0.004 NULL NULL - no_errors NBPF1 HGNC ENSG00000219481 1280 0 0 822 47 5.40852 SELP 0 genome.wustl.edu 37 1 169586331 169586331 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 169586331 169586331 G A SNP SELP ENST00000263686 human ensembl 74_37 -1 known missense c.416 p.P139L 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 201 0 0 110 55 33.3333 PRRX1 0 genome.wustl.edu 37 1 170705408 170705408 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 170705408 170705408 C T SNP PRRX1 ENST00000476867 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRRX1 HGNC ENSG00000116132 31 0 0 14 13 48.1481 FMO4 0 genome.wustl.edu 37 1 171293332 171293332 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 171293332 171293332 A G SNP FMO4 ENST00000367749 human ensembl 74_37 +1 known missense c.377 p.D126G 0.984 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3 - no_errors FMO4 HGNC ENSG00000076258 661 1 0.151057 269 115 29.9479 SUCO 0 genome.wustl.edu 37 1 172522402 172522402 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 172522402 172522402 T C SNP SUCO ENST00000263688 human ensembl 74_37 +1 known silent c.180 p.D60 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 225 0 0 104 46 30.6667 ATP13A2 0 genome.wustl.edu 37 1 17313302 17313302 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 17313302 17313302 T C SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.3233 p.N1078S 1.000 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 36 0 0 21 4 16 PADI2 0 genome.wustl.edu 37 1 17431417 17431417 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 17431417 17431417 G A SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.232 p.R78W 1.000 pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 86 0 0 37 11 22.9167 ASTN1 0 genome.wustl.edu 37 1 177133690 177133690 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 177133690 177133690 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known silent c.123 p.T41 0.998 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 63 0 0 18 12 40 ARHGEF10L 0 genome.wustl.edu 37 1 17914943 17914943 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 17914943 17914943 C A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.226 p.P76T 0.981 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 129 0 0 42 16 27.5862 AXDND1 0 genome.wustl.edu 37 1 179363045 179363045 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 179363045 179363045 T C SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.871 p.Y291H 1.000 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 191 0 0 95 43 31.1594 TOR1AIP1 0 genome.wustl.edu 37 1 179887081 179887081 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 179887081 179887081 G T SNP TOR1AIP1 ENST00000528443 human ensembl 74_37 +1 known missense c.1462 p.G488C 0.988 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 139 0 0 63 38 37.6238 ARHGEF10L 0 genome.wustl.edu 37 1 17990974 17990974 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 17990974 17990974 G A SNP ARHGEF10L ENST00000361221 human ensembl 74_37 +1 known missense c.2893 p.V965M 0.001 superfamily_WD40_repeat_dom pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 37 0 0 7 11 61.1111 XPR1 0 genome.wustl.edu 37 1 180794334 180794334 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 180794334 180794334 A C SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.988 p.S330R 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 298 0 0 142 59 29.3532 DHX9 0 genome.wustl.edu 37 1 182848383 182848383 + Splice_Site SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 182848383 182848383 A C SNP DHX9 ENST00000367549 human ensembl 74_37 +1 known splice_site c.2352-2 e20-2 1.000 - - - no_errors DHX9 HGNC ENSG00000135829 225 0 0 106 64 37.6471 SWT1 0 genome.wustl.edu 37 1 185171822 185171822 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 185171822 185171822 T C SNP SWT1 ENST00000367500 human ensembl 74_37 +1 known silent c.1560 p.S520 1.000 NULL smart_PIN_dom - no_errors SWT1 HGNC ENSG00000116668 101 0 0 56 22 28.2051 PRG4 0 genome.wustl.edu 37 1 186278205 186278205 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 186278205 186278205 T C SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.3354 p.V1118 0.001 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 71 0 0 51 16 23.8806 KLHDC7A 0 genome.wustl.edu 37 1 18809662 18809662 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 18809662 18809662 A G SNP KLHDC7A ENST00000400664 human ensembl 74_37 +1 known silent c.2187 p.G729 0.978 NULL pfam_Kelch_1,smart_Kelch_1 - no_errors KLHDC7A HGNC ENSG00000179023 136 0 0 58 15 20.5479 TAS1R2 0 genome.wustl.edu 37 1 19166729 19166729 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 19166729 19166729 G T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.1884 p.S628 0.000 pfam_GPCR_3_C,pfscan_GPCR_3_C 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 TAS1R2 HGNC ENSG00000179002 185 0 0 82 42 33.871 ALDH4A1 0 genome.wustl.edu 37 1 19202927 19202927 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 19202927 19202927 G A SNP ALDH4A1 ENST00000290597 human ensembl 74_37 -1 known missense c.1220 p.A407V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH - no_errors ALDH4A1 HGNC ENSG00000159423 23 0 0 17 4 19.0476 UBR4 0 genome.wustl.edu 37 1 19480401 19480401 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 19480401 19480401 A C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.6491 p.L2164R 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 205 0 0 71 38 34.8624 EMC1 0 genome.wustl.edu 37 1 19564605 19564605 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 19564605 19564605 T C SNP EMC1 ENST00000477853 human ensembl 74_37 -1 known missense c.1118 p.Y373C 1.000 NULL pfam_DUF1620,superfamily_Quinonprotein_ADH-like_supfam - no_errors EMC1 HGNC ENSG00000127463 74 0 0 18 14 43.75 KCNT2 0 genome.wustl.edu 37 1 196342340 196342340 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 196342340 196342340 A G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.1333 p.L445 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 137 0 0 68 13 16.0494 AKR7A2 0 genome.wustl.edu 37 1 19634729 19634729 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 19634729 19634729 T C SNP AKR7A2 ENST00000235835 human ensembl 74_37 -1 known missense c.514 p.N172D 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom - no_errors AKR7A2 HGNC ENSG00000053371 94 0 0 35 11 23.913 CFHR5 0 genome.wustl.edu 37 1 196964968 196964968 + Silent SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 196964968 196964968 A T SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known silent c.801 p.I267 0.009 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 95 0 0 35 17 32.6923 F13B 0 genome.wustl.edu 37 1 197032158 197032158 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 197032158 197032158 T A SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.94 p.N32Y 1.000 superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 273 0 0 133 63 32.1429 ASPM 0 genome.wustl.edu 37 1 197059338 197059338 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 197059338 197059338 A G SNP ASPM ENST00000367409 human ensembl 74_37 -1 known silent c.9817 p.L3273 0.003 superfamily_ARM-type_fold 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 128 0 0 76 38 33.3333 LGR6 0 genome.wustl.edu 37 1 202288142 202288142 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 202288142 202288142 G A SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known missense c.2711 p.C904Y 0.690 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 136 0 0 55 24 30.3797 DSTYK 0 genome.wustl.edu 37 1 205131199 205131199 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 205131199 205131199 T C SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.1783 p.S595G 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 DSTYK HGNC ENSG00000133059 70 0 0 41 5 10.8696 MFSD4 0 genome.wustl.edu 37 1 205554060 205554060 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 205554060 205554060 T A SNP MFSD4 ENST00000367147 human ensembl 74_37 +1 known missense c.916 p.S306T 0.577 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD4 HGNC ENSG00000174514 324 1 0.307692 134 39 22.5434 IKBKE 0 genome.wustl.edu 37 1 206669460 206669460 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 206669460 206669460 A G SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known silent c.2133 p.P711 0.004 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 IKBKE HGNC ENSG00000143466 117 0 0 34 18 34.6154 DYRK3 0 genome.wustl.edu 37 1 206821426 206821426 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 206821426 206821426 C A SNP DYRK3 ENST00000367109 human ensembl 74_37 +1 known missense c.883 p.L295I 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 DYRK3 HGNC ENSG00000143479 199 0 0 152 14 8.43373 EIF4G3 0 genome.wustl.edu 37 1 21191710 21191710 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 21191710 21191710 G A SNP EIF4G3 ENST00000374937 human ensembl 74_37 -1 known missense c.2518 p.R840W 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 110 0 0 62 29 31.8681 FAM71A 0 genome.wustl.edu 37 1 212799665 212799665 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 212799665 212799665 G T SNP FAM71A ENST00000294829 human ensembl 74_37 +1 known silent c.1446 p.G482 0.184 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 154 1 0.645161 55 24 30.3797 NSL1 0 genome.wustl.edu 37 1 212960901 212960901 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 212960901 212960901 C A SNP NSL1 ENST00000366977 human ensembl 74_37 -1 known missense c.313 p.D105Y 0.987 pfam_Kinetochore_Mis14 pfam_Kinetochore_Mis14 - no_errors NSL1 HGNC ENSG00000117697 110 0 0 32 19 37.2549 KCNK2 0 genome.wustl.edu 37 1 215259855 215259855 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 215259855 215259855 C T SNP KCNK2 ENST00000444842 human ensembl 74_37 +1 known missense c.191 p.T64M 1.000 prints_2pore_dom_K_chnl_TREK pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK2 HGNC ENSG00000082482 82 0 0 49 22 30.9859 USH2A 0 genome.wustl.edu 37 1 215987141 215987141 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 215987141 215987141 G A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known nonsense c.9676 p.R3226* 0.435 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 127 0 0 86 6 6.52174 LDLRAD2 0 genome.wustl.edu 37 1 22141090 22141090 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 22141090 22141090 G A SNP LDLRAD2 ENST00000344642 human ensembl 74_37 +1 known silent c.285 p.A95 0.002 superfamily_CUB_dom pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,superfamily_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD2 HGNC ENSG00000187942 73 0 0 20 10 33.3333 HSPG2 0 genome.wustl.edu 37 1 22183650 22183650 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 22183650 22183650 G A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known silent c.5433 p.N1811 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 269 0 0 85 34 28.5714 TAF1A 0 genome.wustl.edu 37 1 222736617 222736617 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 222736617 222736617 A G SNP TAF1A ENST00000350027 human ensembl 74_37 -1 known missense c.983 p.L328P 0.661 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 68 0 0 37 10 21.2766 MIA3 0 genome.wustl.edu 37 1 222827777 222827777 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 222827777 222827777 A G SNP MIA3 ENST00000344441 human ensembl 74_37 +1 known missense c.4424 p.Q1475R 0.386 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 89 0 0 36 30 45.4545 SKI 0 genome.wustl.edu 37 1 2237624 2237624 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 2237624 2237624 C T SNP SKI ENST00000378536 human ensembl 74_37 +1 known missense c.1933 p.R645W 0.998 NULL pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put - no_errors SKI HGNC ENSG00000157933 15 0 0 7 5 41.6667 CAPN2 0 genome.wustl.edu 37 1 223947066 223947066 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 223947066 223947066 T C SNP CAPN2 ENST00000295006 human ensembl 74_37 +1 known missense c.1412 p.V471A 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN2 HGNC ENSG00000162909 109 0 0 48 16 25 ENAH 0 genome.wustl.edu 37 1 225707050 225707050 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 225707050 225707050 G A SNP ENAH ENST00000366844 human ensembl 74_37 -1 known missense c.652 p.R218W 0.917 NULL pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors ENAH HGNC ENSG00000154380 164 1 0.606061 75 34 31.1927 OBSCN 0 genome.wustl.edu 37 1 228511060 228511060 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 228511060 228511060 A G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.15405 p.Q5135 0.991 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 29 0 0 3 4 57.1429 C1QC 0 genome.wustl.edu 37 1 22973964 22973964 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 22973964 22973964 G A SNP C1QC ENST00000374637 human ensembl 74_37 +1 known silent c.426 p.A142 0.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 92 0 0 30 18 37.5 AGT 0 genome.wustl.edu 37 1 230846346 230846346 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 230846346 230846346 A G SNP AGT ENST00000366667 human ensembl 74_37 -1 known missense c.251 p.L84P 0.005 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensinogen - no_errors AGT HGNC ENSG00000135744 116 0 0 47 22 31.8841 ARID4B 0 genome.wustl.edu 37 1 235345019 235345019 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 235345019 235345019 T C SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.3215 p.D1072G 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 83 0 0 55 4 6.77966 ARID4B 0 genome.wustl.edu 37 1 235345283 235345283 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 235345283 235345283 A G SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.2951 p.L984P 0.937 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 238 1 0.41841 134 22 14.1026 NID1 0 genome.wustl.edu 37 1 236143154 236143154 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 236143154 236143154 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known silent c.3477 p.Y1159 0.003 smart_LDLR_classB_rpt pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 101 0 0 36 23 38.9831 IL22RA1 0 genome.wustl.edu 37 1 24447436 24447436 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 24447436 24447436 A G SNP IL22RA1 ENST00000270800 human ensembl 74_37 -1 novel silent c.1584 p.S528 0.090 NULL pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL22RA1 HGNC ENSG00000142677 81 0 0 39 15 27.7778 AHCTF1 0 genome.wustl.edu 37 1 247021071 247021071 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 247021071 247021071 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.4205 p.E1402G 0.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 70 0 0 31 17 35.4167 ZNF496 0 genome.wustl.edu 37 1 247464040 247464040 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 247464040 247464040 G A SNP ZNF496 ENST00000366498 human ensembl 74_37 -1 known silent c.1653 p.N551 0.004 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF496 HGNC ENSG00000162714 207 0 0 97 22 18.4874 OR2L2 0 genome.wustl.edu 37 1 248201652 248201652 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 248201652 248201652 C A SNP OR2L2 ENST00000366479 human ensembl 74_37 +1 known missense c.83 p.T28N 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L2 HGNC ENSG00000203663 296 0 0 173 68 28.2158 OR2T6 0 genome.wustl.edu 37 1 248551111 248551111 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 248551111 248551111 G A SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.202 p.V68I 0.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 100 0 0 64 33 34.0206 FAM213B 0 genome.wustl.edu 37 1 2519961 2519961 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 2519961 2519961 T C SNP FAM213B ENST00000477045 human ensembl 74_37 +1 known rna NULL NULL 0.071 - - - no_errors FAM213B HGNC ENSG00000157870 331 0 0 80 47 37.0079 TMEM57 0 genome.wustl.edu 37 1 25780773 25780773 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 25780773 25780773 G A SNP TMEM57 ENST00000374343 human ensembl 74_37 +1 known missense c.373 p.V125M 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 105 0 0 47 21 30.8824 EXTL1 0 genome.wustl.edu 37 1 26349202 26349202 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 26349202 26349202 T C SNP EXTL1 ENST00000374280 human ensembl 74_37 +1 known missense c.65 p.V22A 0.259 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL1 HGNC ENSG00000158008 122 0 0 35 10 22.2222 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 17 0 0 6 6 50 ARID1A 0 genome.wustl.edu 37 1 27101055 27101055 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 27101055 27101055 G A SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known missense c.4337 p.R1446Q 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 167 0 0 77 27 25.9615 GPATCH3 0 genome.wustl.edu 37 1 27218981 27218981 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 27218981 27218981 C A SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known missense c.1282 p.G428C 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 123 0 0 56 25 30.8642 AHDC1 0 genome.wustl.edu 37 1 27878058 27878058 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 27878058 27878058 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known missense c.569 p.S190L 0.198 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 161 0 0 75 10 11.7647 MED18 0 genome.wustl.edu 37 1 28661170 28661170 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 28661170 28661170 G A SNP MED18 ENST00000373842 human ensembl 74_37 +1 known missense c.316 p.V106M 1.000 pfam_Mediator_Med18_met/fun pfam_Mediator_Med18_met/fun - no_errors MED18 HGNC ENSG00000130772 146 0 0 86 46 34.8485 TMEM200B 0 genome.wustl.edu 37 1 29447582 29447582 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 29447582 29447582 G T SNP TMEM200B ENST00000420504 human ensembl 74_37 -1 known silent c.759 p.S253 1.000 NULL pfam_DUF2371_TMEM200 - no_errors TMEM200B HGNC ENSG00000253304 76 0 0 27 12 30.7692 PUM1 0 genome.wustl.edu 37 1 31465500 31465500 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 31465500 31465500 G T SNP PUM1 ENST00000426105 human ensembl 74_37 -1 known missense c.895 p.P299T 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 103 0 0 84 17 16.8317 TINAGL1 0 genome.wustl.edu 37 1 32049152 32049152 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 32049152 32049152 G A SNP TINAGL1 ENST00000271064 human ensembl 74_37 +1 known silent c.558 p.S186 0.435 NULL pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom - no_errors TINAGL1 HGNC ENSG00000142910 38 0 0 14 8 36.3636 LCK 0 genome.wustl.edu 37 1 32740967 32740967 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 32740967 32740967 A T SNP LCK ENST00000333070 human ensembl 74_37 +1 known missense c.324 p.E108D 1.000 pfam_SH3_domain,pfam_SH3_2,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain 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 LCK HGNC ENSG00000182866 79 0 0 29 11 27.5 RBBP4 0 genome.wustl.edu 37 1 33133933 33133933 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 33133933 33133933 A G SNP RBBP4 ENST00000373493 human ensembl 74_37 +1 known missense c.418 p.I140V 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat 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 113 0 0 68 21 23.5955 YARS 0 genome.wustl.edu 37 1 33272165 33272165 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 33272165 33272165 T C SNP YARS ENST00000373477 human ensembl 74_37 -1 known missense c.428 p.H143R 1.000 pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold,prints_Tyr-tRNA-ligase,pfscan_tRNA-bd_dom,tigrfam_Tyr-tRNA-ligase - no_errors YARS HGNC ENSG00000134684 212 0 0 141 9 6 NCDN 0 genome.wustl.edu 37 1 36023989 36023989 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 36023989 36023989 G A SNP NCDN ENST00000459931 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors NCDN HGNC ENSG00000020129 11 0 0 18 10 35.7143 MAP7D1 0 genome.wustl.edu 37 1 36641819 36641819 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 36641819 36641819 C T SNP MAP7D1 ENST00000373151 human ensembl 74_37 +1 known silent c.870 p.S290 0.995 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 49 0 0 19 7 26.9231 SH3D21 0 genome.wustl.edu 37 1 36785312 36785312 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 36785312 36785312 G C SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known missense c.1048 p.V350L 0.006 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC ENSG00000214193 34 0 0 13 3 18.75 CEP104 0 genome.wustl.edu 37 1 3750491 3750491 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 3750491 3750491 C T SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known missense c.1594 p.V532I 0.000 superfamily_ARM-type_fold superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 141 0 0 47 17 26.5625 SF3A3 0 genome.wustl.edu 37 1 38423870 38423870 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 38423870 38423870 T G SNP SF3A3 ENST00000373019 human ensembl 74_37 -1 known missense c.1494 p.Q498H 1.000 pfam_DUF3449 pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 113 0 0 43 22 33.8462 MACF1 0 genome.wustl.edu 37 1 39800373 39800373 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 39800373 39800373 G A SNP MACF1 ENST00000567887 human ensembl 74_37 +1 putative missense c.8224 p.A2742T 0.143 pfam_Plectin_repeat,superfamily_RNaseH-like_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 83 0 0 44 17 27.8689 RIMKLA 0 genome.wustl.edu 37 1 42870241 42870241 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 42870241 42870241 G A SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known missense c.454 p.V152M 0.998 pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 134 0 0 40 15 27.2727 RIMKLA 0 genome.wustl.edu 37 1 42880340 42880340 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 42880340 42880340 G A SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known missense c.871 p.V291M 1.000 pfam_ATP-grasp_RimK-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 304 0 0 148 77 34.2222 ENSG00000230615 0 genome.wustl.edu 37 1 44570177 44570177 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 44570177 44570177 T C SNP ENSG00000230615 ENST00000434244 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP5-1198O20.4 Clone_based_vega_gene ENSG00000230615 95 0 0 39 16 29.0909 RNF220 0 genome.wustl.edu 37 1 45079871 45079871 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 45079871 45079871 G A SNP RNF220 ENST00000355387 human ensembl 74_37 +1 known silent c.660 p.Q220 1.000 NULL superfamily_Peptidase_M20_dimer,pfscan_Znf_RING - no_errors RNF220 HGNC ENSG00000187147 166 0 0 60 24 28.5714 ZSWIM5 0 genome.wustl.edu 37 1 45553711 45553711 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 45553711 45553711 C T SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.794 p.R265H 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 262 0 0 147 74 33.4842 NASP 0 genome.wustl.edu 37 1 46068012 46068012 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 46068012 46068012 G A SNP NASP ENST00000402363 human ensembl 74_37 +1 known missense c.199 p.A67T 1.000 smart_TPR_repeat pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 149 0 0 74 27 26.7327 FOXD2 0 genome.wustl.edu 37 1 47904205 47904205 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 47904205 47904205 T C SNP FOXD2 ENST00000334793 human ensembl 74_37 +1 known missense c.398 p.I133T 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD2 HGNC ENSG00000186564 119 0 0 38 21 35.5932 CC2D1B 0 genome.wustl.edu 37 1 52821976 52821976 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 52821976 52821976 T C SNP CC2D1B ENST00000371586 human ensembl 74_37 -1 known splice_site c.1956-2 e17-2 1.000 - - - no_errors CC2D1B HGNC ENSG00000154222 274 0 0 125 25 16.6667 DAB1 0 genome.wustl.edu 37 1 57535092 57535092 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 57535092 57535092 C T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.604 p.V202M 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 137 0 0 58 21 26.5823 DOCK7 0 genome.wustl.edu 37 1 63113432 63113432 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 63113432 63113432 G A SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.748 p.R250W 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 207 0 0 105 55 34.375 ANKRD13C 0 genome.wustl.edu 37 1 70766480 70766480 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 70766480 70766480 A G SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known silent c.888 p.N296 1.000 pfam_ANKRD13 pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 44 0 0 23 12 34.2857 ENSG00000224149 0 genome.wustl.edu 37 1 75596159 75596159 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 75596159 75596159 C T SNP ENSG00000224149 ENST00000427892 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-510C10.3 Clone_based_vega_gene ENSG00000224149 10 0 0 4 4 50 FAM73A 0 genome.wustl.edu 37 1 78249019 78249019 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 78249019 78249019 T C SNP FAM73A ENST00000370791 human ensembl 74_37 +1 known missense c.178 p.Y60H 1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 116 0 0 76 6 7.31707 LMO4 0 genome.wustl.edu 37 1 87810502 87810502 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 87810502 87810502 C T SNP LMO4 ENST00000489303 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LMO4 HGNC ENSG00000143013 81 0 0 34 20 37.037 LRRC8C 0 genome.wustl.edu 37 1 90179605 90179605 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 90179605 90179605 C T SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known silent c.1476 p.N492 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 90 0 0 52 32 38.0952 GFI1 0 genome.wustl.edu 37 1 92948991 92948991 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 92948991 92948991 C T SNP GFI1 ENST00000294702 human ensembl 74_37 -1 known silent c.54 p.P18 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GFI1 HGNC ENSG00000162676 51 0 0 17 16 48.4848 R3HCC1L 0 genome.wustl.edu 37 10 100003868 100003868 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 100003868 100003868 A G SNP R3HCC1L ENST00000370584 human ensembl 74_37 +1 known missense c.2290 p.K764E 1.000 NULL NULL - no_errors R3HCC1L HGNC ENSG00000166024 124 0 0 33 9 21.4286 PKD2L1 0 genome.wustl.edu 37 10 102051105 102051105 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 102051105 102051105 C A SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known missense c.1960 p.D654Y 1.000 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 119 0 0 55 26 32.0988 LBX1 0 genome.wustl.edu 37 10 102988546 102988546 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 102988546 102988546 C A SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known silent c.27 p.A9 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 56 0 0 11 7 38.8889 BTRC 0 genome.wustl.edu 37 10 103295124 103295124 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 103295124 103295124 G A SNP BTRC ENST00000370187 human ensembl 74_37 +1 known missense c.1361 p.S454N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 144 0 0 57 29 33.7209 HPS6 0 genome.wustl.edu 37 10 103826899 103826899 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 103826899 103826899 A G SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known silent c.1668 p.E556 0.026 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 182 1 0.546448 77 24 23.7624 SUFU 0 genome.wustl.edu 37 10 104377154 104377154 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 104377154 104377154 A G SNP SUFU ENST00000369902 human ensembl 74_37 +1 known missense c.1265 p.H422R 1.000 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 149 0 0 68 24 26.087 SORCS3 0 genome.wustl.edu 37 10 106959852 106959852 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 106959852 106959852 A G SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2105 p.Q702R 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 199 0 0 52 36 40.9091 CELF2 0 genome.wustl.edu 37 10 11356215 11356215 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 11356215 11356215 C T SNP CELF2 ENST00000450189 human ensembl 74_37 +1 known silent c.1090 p.L364 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors CELF2 HGNC ENSG00000048740 113 0 0 49 18 26.8657 NRAP 0 genome.wustl.edu 37 10 115413781 115413781 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 115413781 115413781 T G SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.464 p.E155A 1.000 NULL 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 381 0 0 130 51 28.1768 TRUB1 0 genome.wustl.edu 37 10 116702484 116702484 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 116702484 116702484 G A SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.367 p.A123T 0.987 pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 89 0 0 23 12 34.2857 PPAPDC1A 0 genome.wustl.edu 37 10 122348993 122348993 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 122348993 122348993 G A SNP PPAPDC1A ENST00000398250 human ensembl 74_37 +1 known silent c.795 p.G265 0.969 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1A HGNC ENSG00000203805 77 0 0 37 11 22.9167 BTBD16 0 genome.wustl.edu 37 10 124050682 124050682 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 124050682 124050682 T G SNP BTBD16 ENST00000368994 human ensembl 74_37 +1 known missense c.566 p.I189S 0.021 superfamily_BTB/POZ_fold superfamily_BTB/POZ_fold - no_errors BTBD16 HGNC ENSG00000138152 217 0 0 92 7 7.07071 C10orf90 0 genome.wustl.edu 37 10 128193497 128193497 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 128193497 128193497 C T SNP C10orf90 ENST00000544758 human ensembl 74_37 -1 known missense c.563 p.R188H 0.000 NULL NULL - no_errors C10orf90 HGNC ENSG00000154493 208 0 0 68 42 38.1818 CAMK1D 0 genome.wustl.edu 37 10 12870861 12870861 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 12870861 12870861 C T SNP CAMK1D ENST00000378847 human ensembl 74_37 +1 known missense c.1133 p.T378M 0.983 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 CAMK1D HGNC ENSG00000183049 47 0 0 16 8 33.3333 FOXI2 0 genome.wustl.edu 37 10 129537128 129537128 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 129537128 129537128 A G SNP FOXI2 ENST00000388920 human ensembl 74_37 +1 known missense c.856 p.T286A 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI2 HGNC ENSG00000186766 40 0 0 10 4 28.5714 DPYSL4 0 genome.wustl.edu 37 10 134014423 134014423 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 134014423 134014423 C T SNP DPYSL4 ENST00000338492 human ensembl 74_37 +1 known missense c.1046 p.A349V 1.000 pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL4 HGNC ENSG00000151640 75 0 0 24 8 25 PTER 0 genome.wustl.edu 37 10 16528646 16528646 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 16528646 16528646 A G SNP PTER ENST00000485788 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PTER HGNC ENSG00000165983 78 0 0 45 21 31.8182 VIM 0 genome.wustl.edu 37 10 17277877 17277877 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 17277877 17277877 T C SNP VIM ENST00000224237 human ensembl 74_37 +1 known missense c.1262 p.L421P 1.000 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors VIM HGNC ENSG00000026025 80 0 0 46 9 16.3636 ENSG00000240291 0 genome.wustl.edu 37 10 18828137 18828137 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 18828137 18828137 G A SNP ENSG00000240291 ENST00000425669 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-499P20.2 Clone_based_vega_gene ENSG00000240291 127 0 0 58 30 34.0909 NEBL 0 genome.wustl.edu 37 10 21097468 21097468 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 21097468 21097468 C T SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2732 p.S911N 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 154 0 0 68 23 25.2747 KIAA1217 0 genome.wustl.edu 37 10 24835164 24835164 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 24835164 24835164 A G SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known missense c.5743 p.T1915A 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 133 0 0 61 9 12.8571 ARHGAP21 0 genome.wustl.edu 37 10 25010939 25010939 + RNA SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 25010939 25010939 A C SNP ARHGAP21 ENST00000472150 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ARHGAP21 HGNC ENSG00000107863 14 0 0 7 4 36.3636 MYO3A 0 genome.wustl.edu 37 10 26286159 26286159 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 26286159 26286159 G A SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known silent c.480 p.T160 0.323 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 106 0 0 40 13 24.5283 ZMYND11 0 genome.wustl.edu 37 10 267248 267248 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 267248 267248 G C SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known missense c.390 p.E130D 1.000 superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 160 0 0 85 35 29.1667 ANKRD26 0 genome.wustl.edu 37 10 27306639 27306639 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 27306639 27306639 T C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.4346 p.E1449G 0.010 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 67 0 0 51 6 10.5263 ANKRD26 0 genome.wustl.edu 37 10 27324065 27324065 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 27324065 27324065 T C SNP ANKRD26 ENST00000436985 human ensembl 74_37 -1 known missense c.3362 p.Q1121R 0.001 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 226 0 0 180 10 5.26316 YME1L1 0 genome.wustl.edu 37 10 27425268 27425268 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 27425268 27425268 T C SNP YME1L1 ENST00000326799 human ensembl 74_37 -1 known silent c.648 p.R216 0.917 NULL pfam_Peptidase_M41,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_FtsH - no_errors YME1L1 HGNC ENSG00000136758 91 0 0 39 24 38.0952 ARMC4 0 genome.wustl.edu 37 10 28284024 28284024 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 28284024 28284024 A G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known silent c.48 p.H16 0.262 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 95 0 0 33 18 35.2941 BMS1 0 genome.wustl.edu 37 10 43297643 43297643 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 43297643 43297643 C T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.2306 p.A769V 1.000 superfamily_P-loop_NTPase pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 120 1 0.826446 40 27 40.2985 BMS1 0 genome.wustl.edu 37 10 43316002 43316002 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 43316002 43316002 G T SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.2816 p.R939L 1.000 pfam_BMS1_TSR1_C pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 98 0 0 55 21 27.6316 RET 0 genome.wustl.edu 37 10 43609082 43609082 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 43609082 43609082 C T SNP RET ENST00000355710 human ensembl 74_37 +1 known missense c.1838 p.P613L 0.865 pirsf_Tyr_kinase_Ret_rcpt pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Cadherin - no_errors RET HGNC ENSG00000165731 50 0 0 18 5 21.7391 FRMPD2 0 genome.wustl.edu 37 10 49450202 49450202 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 49450202 49450202 A G SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known splice_site c.567+2 e5+2 0.989 - - - no_errors FRMPD2 HGNC ENSG00000170324 177 0 0 59 35 37.234 VSTM4 0 genome.wustl.edu 37 10 50315772 50315772 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 50315772 50315772 C T SNP VSTM4 ENST00000332853 human ensembl 74_37 -1 known silent c.324 p.A108 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM4 HGNC ENSG00000165633 152 0 0 65 27 29.3478 AGAP8 0 genome.wustl.edu 37 10 51225182 51225182 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 51225182 51225182 G A SNP AGAP8 ENST00000425119 human ensembl 74_37 -1 known silent c.1800 p.D600 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP8 HGNC ENSG00000174194 125 0 0 60 9 13.0435 PCDH15 0 genome.wustl.edu 37 10 55566601 55566601 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 55566601 55566601 A G SNP PCDH15 ENST00000414778 human ensembl 74_37 -1 known missense c.4784 p.L1595S 0.094 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 411 0 0 172 85 33.0739 GDI2 0 genome.wustl.edu 37 10 5827903 5827903 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 5827903 5827903 T C SNP GDI2 ENST00000380132 human ensembl 74_37 -1 known missense c.511 p.T171A 0.001 pfam_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI2 HGNC ENSG00000057608 137 0 0 90 6 6.25 ARID5B 0 genome.wustl.edu 37 10 63851281 63851281 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 63851281 63851281 A G SNP ARID5B ENST00000279873 human ensembl 74_37 +1 known missense c.2059 p.M687V 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ENSG00000150347 79 0 0 50 17 25.3731 JMJD1C-AS1 0 genome.wustl.edu 37 10 65225233 65225233 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 65225233 65225233 A G SNP JMJD1C-AS1 ENST00000609436 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors JMJD1C-AS1 HGNC ENSG00000272767 18 0 0 6 6 50 DNA2 0 genome.wustl.edu 37 10 70182529 70182529 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 70182529 70182529 A G SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.2585 p.L862P 1.000 superfamily_P-loop_NTPase pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 66 0 0 31 18 36.7347 PSAP 0 genome.wustl.edu 37 10 73579254 73579254 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 73579254 73579254 A G SNP PSAP ENST00000394934 human ensembl 74_37 -1 known missense c.1324 p.C442R 1.000 pirsf_Saposin_chordata,pfam_SapB_1,superfamily_Saposin-like,smart_SaposinB,prints_Saposin,pfscan_SaposinB pirsf_Saposin_chordata,pfam_SapB_1,pfam_SapB_2,pfam_SapA,superfamily_Saposin-like,smart_SapA,smart_SaposinB,prints_Saposin,pfscan_SapA,pfscan_SaposinB - no_errors PSAP HGNC ENSG00000197746 110 0 0 68 5 6.84932 P4HA1 0 genome.wustl.edu 37 10 74834629 74834629 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 74834629 74834629 T C SNP P4HA1 ENST00000263556 human ensembl 74_37 -1 known missense c.13 p.I5V 0.001 NULL pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors P4HA1 HGNC ENSG00000122884 74 0 0 31 21 40.3846 AGAP5 0 genome.wustl.edu 37 10 75434380 75434380 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 75434380 75434380 C T SNP AGAP5 ENST00000374094 human ensembl 74_37 -1 known missense c.2038 p.G680S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP5 HGNC ENSG00000172650 109 0 0 44 20 31.25 NDST2 0 genome.wustl.edu 37 10 75564621 75564621 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 75564621 75564621 A G SNP NDST2 ENST00000309979 human ensembl 74_37 -1 known missense c.1753 p.C585R 1.000 superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST2 HGNC ENSG00000166507 81 0 0 31 20 39.2157 AP3M1 0 genome.wustl.edu 37 10 75884257 75884257 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 75884257 75884257 A T SNP AP3M1 ENST00000355264 human ensembl 74_37 -1 known missense c.1037 p.I346N 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP3M1 HGNC ENSG00000185009 67 0 0 47 23 32.8571 KAT6B 0 genome.wustl.edu 37 10 76780463 76780463 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 76780463 76780463 A G SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.2753 p.H918R 0.986 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 107 0 0 41 20 32.7869 KCNMA1 0 genome.wustl.edu 37 10 79010963 79010963 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 79010963 79010963 C A SNP KCNMA1 ENST00000406533 human ensembl 74_37 -1 known missense c.592 p.D198Y 1.000 NULL 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 69 0 0 21 11 34.375 CDHR1 0 genome.wustl.edu 37 10 85967975 85967975 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 85967975 85967975 G A SNP CDHR1 ENST00000372117 human ensembl 74_37 +1 known missense c.1009 p.V337I 0.065 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR1 HGNC ENSG00000148600 110 0 0 45 4 8.16327 MMRN2 0 genome.wustl.edu 37 10 88717266 88717266 + Silent SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 88717266 88717266 G C SNP MMRN2 ENST00000372027 human ensembl 74_37 -1 known silent c.33 p.G11 0.007 NULL pfam_C1q,pfam_EMI_domain,superfamily_Tumour_necrosis_fac-like_dom,superfamily_tRNA-bd_arm,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors MMRN2 HGNC ENSG00000173269 230 0 0 79 36 31.3043 TNKS2 0 genome.wustl.edu 37 10 93579761 93579761 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 93579761 93579761 T C SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known silent c.699 p.H233 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt 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 211 1 0.471698 66 46 41.0714 HELLS 0 genome.wustl.edu 37 10 96336485 96336485 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 96336485 96336485 C T SNP HELLS ENST00000371332 human ensembl 74_37 +1 known missense c.955 p.R319W 0.796 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HELLS HGNC ENSG00000119969 100 0 0 46 4 8 ALDH18A1 0 genome.wustl.edu 37 10 97373858 97373858 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 97373858 97373858 T C SNP ALDH18A1 ENST00000371224 human ensembl 74_37 -1 known missense c.1666 p.I556V 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase - no_errors ALDH18A1 HGNC ENSG00000059573 475 0 0 169 94 35.7414 PGR 0 genome.wustl.edu 37 11 100999009 100999009 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 100999009 100999009 C T SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.793 p.V265I 0.001 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 22 0 0 12 5 29.4118 DYNC2H1 0 genome.wustl.edu 37 11 103178458 103178458 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 103178458 103178458 T C SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known silent c.11412 p.N3804 0.990 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 21 0 0 7 3 30 SLC35F2 0 genome.wustl.edu 37 11 107676145 107676145 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 107676145 107676145 C T SNP SLC35F2 ENST00000429869 human ensembl 74_37 -1 known missense c.671 p.S224N 1.000 pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom pfam_SLC35_F1/F2/F6,pfam_DMT,pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35F2 HGNC ENSG00000110660 87 0 0 44 15 25.4237 CTR9 0 genome.wustl.edu 37 11 10785668 10785668 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 10785668 10785668 A G SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known missense c.1204 p.K402E 1.000 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 159 0 0 55 30 35.2941 C11orf52 0 genome.wustl.edu 37 11 111796714 111796714 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 111796714 111796714 C T SNP C11orf52 ENST00000278601 human ensembl 74_37 +1 known missense c.163 p.R55W 0.009 NULL NULL - no_errors C11orf52 HGNC ENSG00000149300 76 0 0 32 20 38.4615 C11orf52 0 genome.wustl.edu 37 11 111796981 111796981 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 111796981 111796981 A G SNP C11orf52 ENST00000527286 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C11orf52 HGNC ENSG00000149300 88 0 0 26 16 38.0952 DSCAML1 0 genome.wustl.edu 37 11 117374594 117374594 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 117374594 117374594 G T SNP DSCAML1 ENST00000321322 human ensembl 74_37 -1 known silent c.2505 p.T835 0.773 pfam_Ig_I-set,smart_Ig_sub,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 80 0 0 36 14 28 VPS11 0 genome.wustl.edu 37 11 118947751 118947751 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 118947751 118947751 T C SNP VPS11 ENST00000300793 human ensembl 74_37 +1 known silent c.1380 p.Y460 0.738 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,pirsf_VPS11 pfam_VPS11_C,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_RING,pirsf_VPS11,pfscan_Znf_RING - no_errors VPS11 HGNC ENSG00000160695 42 0 0 13 7 35 MICAL2 0 genome.wustl.edu 37 11 12245002 12245002 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 12245002 12245002 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known silent c.1494 p.L498 0.688 superfamily_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 188 0 0 63 25 28.4091 C11orf63 0 genome.wustl.edu 37 11 122817304 122817304 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 122817304 122817304 T C SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.1733 p.L578P 0.999 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 79 0 0 56 4 6.66667 OR8B4 0 genome.wustl.edu 37 11 124294529 124294529 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 124294529 124294529 T C SNP OR8B4 ENST00000356130 human ensembl 74_37 -1 known missense c.239 p.K80R 0.991 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B4 HGNC ENSG00000198657 120 0 0 76 7 8.43373 SPA17 0 genome.wustl.edu 37 11 124561622 124561622 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 124561622 124561622 A C SNP SPA17 ENST00000227135 human ensembl 74_37 +1 putative missense c.256 p.K86Q 0.015 pirsf_Sp17 pfam_cAMP_dep_PK_reg_su_I/II_a/b,pfam_IQ_motif_EF-hand-BS,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_P-loop_NTPase,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_IQ_motif_EF-hand-BS,pirsf_Sp17,pfscan_IQ_motif_EF-hand-BS - no_errors SPA17 HGNC ENSG00000064199 97 0 0 56 37 39.7849 CDON 0 genome.wustl.edu 37 11 125887121 125887121 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 125887121 125887121 G T SNP CDON ENST00000392693 human ensembl 74_37 -1 known missense c.790 p.P264T 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CDON HGNC ENSG00000064309 127 0 0 62 27 30.3371 FOXRED1 0 genome.wustl.edu 37 11 126145767 126145767 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 126145767 126145767 T C SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known splice_site c.810+2 e7+2 1.000 - - - no_errors FOXRED1 HGNC ENSG00000110074 74 0 0 34 13 27.6596 MUC5B 0 genome.wustl.edu 37 11 1272703 1272703 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 1272703 1272703 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.14602 p.A4868T 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 145 1 0.684932 43 20 31.746 MUC5B 0 genome.wustl.edu 37 11 1275371 1275371 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 1275371 1275371 C A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.15276 p.T5092 0.654 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 71 0 0 29 11 27.5 FLI1 0 genome.wustl.edu 37 11 128680407 128680407 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 128680407 128680407 G A SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known missense c.883 p.A295T 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 19 0 0 14 2 12.5 ARHGAP32 0 genome.wustl.edu 37 11 128840436 128840436 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 128840436 128840436 C T SNP ARHGAP32 ENST00000310343 human ensembl 74_37 -1 known missense c.4630 p.A1544T 0.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ENSG00000134909 80 0 0 33 18 35.2941 NFRKB 0 genome.wustl.edu 37 11 129739494 129739494 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 129739494 129739494 T C SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known silent c.3501 p.V1167 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 148 0 0 53 28 34.5679 IGSF9B 0 genome.wustl.edu 37 11 133805527 133805527 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 133805527 133805527 A G SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known missense c.952 p.Y318H 0.991 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9B HGNC ENSG00000080854 32 0 0 7 3 30 COPB1 0 genome.wustl.edu 37 11 14498463 14498463 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 14498463 14498463 A G SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known splice_site c.1455+2 e11+2 1.000 - - - no_errors COPB1 HGNC ENSG00000129083 131 0 0 71 28 28.2828 PDE3B 0 genome.wustl.edu 37 11 14865502 14865502 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 14865502 14865502 C T SNP PDE3B ENST00000282096 human ensembl 74_37 +1 known missense c.2450 p.A817V 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3B HGNC ENSG00000152270 207 0 0 93 49 34.507 KRTAP5-5 0 genome.wustl.edu 37 11 1651119 1651119 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 1651119 1651119 C T SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known missense c.49 p.R17C 0.996 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 338 0 0 116 26 18.3099 KRTAP5-5 0 genome.wustl.edu 37 11 1651136 1651136 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 1651136 1651136 G A SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known silent c.66 p.G22 0.282 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 301 0 0 121 19 13.5714 KRTAP5-5 0 genome.wustl.edu 37 11 1651322 1651322 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 1651322 1651322 T C SNP KRTAP5-5 ENST00000399676 human ensembl 74_37 +1 known silent c.252 p.C84 1.000 NULL NULL - no_errors KRTAP5-5 HGNC ENSG00000185940 400 1 0.249377 140 21 13.0435 ABCC8 0 genome.wustl.edu 37 11 17419241 17419241 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 17419241 17419241 T C SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.3860 p.Y1287C 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,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 66 0 0 14 9 39.1304 MRGPRX1 0 genome.wustl.edu 37 11 18956195 18956195 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 18956195 18956195 G A SNP MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known missense c.137 p.A46V 0.026 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 244 0 0 113 80 41.4508 ATHL1 0 genome.wustl.edu 37 11 293653 293653 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 293653 293653 A G SNP ATHL1 ENST00000409548 human ensembl 74_37 +1 known missense c.1540 p.S514G 0.837 pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 153 0 0 83 18 17.8218 DCDC1 0 genome.wustl.edu 37 11 30915848 30915848 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 30915848 30915848 T C SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.1054 p.T352A 0.965 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 86 0 0 38 14 26.9231 PAX6 0 genome.wustl.edu 37 11 31812409 31812409 + Splice_Site SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 31812409 31812409 C T SNP PAX6 ENST00000379107 human ensembl 74_37 -1 known splice_site c.1075-1 e10-1 1.000 - - - no_errors PAX6 HGNC ENSG00000007372 53 0 0 25 11 30.5556 PRR5L 0 genome.wustl.edu 37 11 36458986 36458986 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 36458986 36458986 A T SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.404 p.E135V 1.000 pfam_HbrB pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 255 0 0 80 41 33.8843 C11orf74 0 genome.wustl.edu 37 11 36654929 36654929 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 36654929 36654929 T C SNP C11orf74 ENST00000334307 human ensembl 74_37 +1 known missense c.232 p.Y78H 0.213 NULL NULL - no_errors C11orf74 HGNC ENSG00000166352 76 0 0 38 17 30.9091 ALX4 0 genome.wustl.edu 37 11 44286581 44286581 + Silent SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 44286581 44286581 A C SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known silent c.1059 p.S353 0.010 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 83 0 0 36 7 16.2791 CREB3L1 0 genome.wustl.edu 37 11 46329501 46329501 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 46329501 46329501 A G SNP CREB3L1 ENST00000288400 human ensembl 74_37 +1 known missense c.466 p.T156A 0.654 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 8 0 0 2 2 50 NUP160 0 genome.wustl.edu 37 11 47827804 47827804 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 47827804 47827804 A T SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.2507 p.I836K 0.717 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 124 0 0 58 25 30.1205 OR52R1 0 genome.wustl.edu 37 11 4825323 4825323 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 4825323 4825323 C T SNP OR52R1 ENST00000380382 human ensembl 74_37 -1 known silent c.525 p.Q175 0.000 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 OR52R1 HGNC ENSG00000176937 182 0 0 61 20 24.6914 OR4X2 0 genome.wustl.edu 37 11 48266720 48266720 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 48266720 48266720 T C SNP OR4X2 ENST00000302329 human ensembl 74_37 +1 known missense c.65 p.I22T 0.301 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X2 HGNC ENSG00000172208 154 0 0 132 8 5.71429 OR51S1 0 genome.wustl.edu 37 11 4869564 4869564 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 4869564 4869564 G T SNP OR51S1 ENST00000322101 human ensembl 74_37 -1 known missense c.875 p.P292Q 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC ENSG00000176922 193 0 0 82 36 30.5085 TRIM49B 0 genome.wustl.edu 37 11 49053333 49053333 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 49053333 49053333 A G SNP TRIM49B ENST00000332682 human ensembl 74_37 +1 known missense c.182 p.Q61R 0.046 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM49B HGNC ENSG00000182053 84 0 0 58 20 25.641 OR51L1 0 genome.wustl.edu 37 11 5020966 5020966 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 5020966 5020966 A G SNP OR51L1 ENST00000321543 human ensembl 74_37 +1 known missense c.754 p.I252V 0.089 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 OR51L1 HGNC ENSG00000176798 74 0 0 48 16 25 OR51I2 0 genome.wustl.edu 37 11 5474940 5474940 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 5474940 5474940 C A SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known silent c.222 p.S74 0.210 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 OR51I2 HGNC ENSG00000187918 145 0 0 71 42 37.1681 OR5D13 0 genome.wustl.edu 37 11 55541797 55541797 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 55541797 55541797 G T SNP OR5D13 ENST00000361760 human ensembl 74_37 +1 known missense c.884 p.R295M 0.983 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D13 HGNC ENSG00000198877 77 0 0 37 18 32.7273 TRIM5 0 genome.wustl.edu 37 11 5701079 5701079 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 5701079 5701079 C T SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known missense c.329 p.G110E 0.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box 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_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 202 0 0 81 36 30.7692 TRIM5 0 genome.wustl.edu 37 11 5701098 5701098 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 5701098 5701098 G A SNP TRIM5 ENST00000305836 human ensembl 74_37 -1 known missense c.310 p.L104F 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box 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_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM5 HGNC ENSG00000132256 214 1 0.465116 82 48 36.9231 OR52E8 0 genome.wustl.edu 37 11 5878034 5878034 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 5878034 5878034 C A SNP OR52E8 ENST00000537935 human ensembl 74_37 -1 known missense c.899 p.R300M 0.005 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E8 HGNC ENSG00000183269 224 0 0 122 46 27.381 OR4D11 0 genome.wustl.edu 37 11 59271395 59271395 + Missense_Mutation SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 59271395 59271395 C G SNP OR4D11 ENST00000313253 human ensembl 74_37 +1 known missense c.347 p.S116C 0.959 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 OR4D11 HGNC ENSG00000176200 246 0 0 135 65 32.5 OR10V1 0 genome.wustl.edu 37 11 59480736 59480736 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 59480736 59480736 C T SNP OR10V1 ENST00000307552 human ensembl 74_37 -1 known missense c.583 p.V195I 0.001 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 OR10V1 HGNC ENSG00000172289 136 0 0 49 13 20.9677 MS4A2 0 genome.wustl.edu 37 11 59857235 59857235 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 59857235 59857235 T G SNP MS4A2 ENST00000278888 human ensembl 74_37 +1 known missense c.127 p.S43A 0.000 NULL pfam_CD20-like - no_errors MS4A2 HGNC ENSG00000149534 123 0 0 62 34 35.4167 DAGLA 0 genome.wustl.edu 37 11 61502351 61502351 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 61502351 61502351 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.1005 p.F335 0.956 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 298 0 0 102 58 36.25 FTH1 0 genome.wustl.edu 37 11 61732984 61732984 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 61732984 61732984 A G SNP FTH1 ENST00000273550 human ensembl 74_37 -1 known missense c.118 p.Y40H 1.000 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTH1 HGNC ENSG00000167996 106 0 0 92 34 26.9841 TUT1 0 genome.wustl.edu 37 11 62348933 62348933 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 62348933 62348933 A G SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known silent c.628 p.L210 0.996 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 77 0 0 34 4 10.5263 HRASLS5 0 genome.wustl.edu 37 11 63233754 63233754 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 63233754 63233754 C T SNP HRASLS5 ENST00000301790 human ensembl 74_37 -1 known missense c.575 p.C192Y 1.000 pfam_LRAT-like_dom pfam_LRAT-like_dom - no_errors HRASLS5 HGNC ENSG00000168004 100 0 0 57 20 25.974 RTN3 0 genome.wustl.edu 37 11 63486576 63486576 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 63486576 63486576 C T SNP RTN3 ENST00000377819 human ensembl 74_37 +1 known missense c.602 p.A201V 0.001 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC ENSG00000133318 130 0 0 44 30 40.5405 RCOR2 0 genome.wustl.edu 37 11 63681570 63681570 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 63681570 63681570 G A SNP RCOR2 ENST00000301459 human ensembl 74_37 -1 known silent c.747 p.R249 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR2 HGNC ENSG00000167771 218 0 0 59 44 42.7184 CDC42BPG 0 genome.wustl.edu 37 11 64606559 64606559 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 64606559 64606559 C T SNP CDC42BPG ENST00000342711 human ensembl 74_37 -1 known silent c.822 p.T274 0.645 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPG HGNC ENSG00000171219 150 0 0 65 25 27.7778 ATG2A 0 genome.wustl.edu 37 11 64677288 64677288 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 64677288 64677288 G T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.1972 p.P658T 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 92 0 0 21 14 40 TM7SF2 0 genome.wustl.edu 37 11 64880820 64880820 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 64880820 64880820 A G SNP TM7SF2 ENST00000279263 human ensembl 74_37 +1 known missense c.433 p.S145G 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 - no_errors TM7SF2 HGNC ENSG00000149809 145 0 0 120 8 6.25 MALAT1 0 genome.wustl.edu 37 11 65272645 65272645 + RNA SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 65272645 65272645 T A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 75 0 0 28 23 45.098 EHBP1L1 0 genome.wustl.edu 37 11 65349955 65349955 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 65349955 65349955 A G SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.1812 p.I604M 0.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1L1 HGNC ENSG00000173442 118 0 0 46 7 13.2075 RELA 0 genome.wustl.edu 37 11 65425862 65425862 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 65425862 65425862 G A SNP RELA ENST00000406246 human ensembl 74_37 -1 known missense c.773 p.A258V 0.568 superfamily_Ig_E-set,smart_IPT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELA HGNC ENSG00000173039 58 0 0 16 7 30.4348 GAL3ST3 0 genome.wustl.edu 37 11 65810644 65810644 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 65810644 65810644 G A SNP GAL3ST3 ENST00000312006 human ensembl 74_37 -1 known silent c.630 p.G210 0.852 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST3 HGNC ENSG00000175229 98 0 0 50 19 27.5362 PACS1 0 genome.wustl.edu 37 11 66002804 66002804 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 66002804 66002804 T C SNP PACS1 ENST00000320580 human ensembl 74_37 +1 known missense c.2137 p.Y713H 1.000 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 121 0 0 50 5 9.09091 KLC2 0 genome.wustl.edu 37 11 66026206 66026206 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 66026206 66026206 C T SNP KLC2 ENST00000316924 human ensembl 74_37 +1 known silent c.141 p.A47 0.001 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR_1,smart_TPR_repeat,prints_Kinesin_light,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KLC2 HGNC ENSG00000174996 118 0 0 26 12 31.5789 CCDC87 0 genome.wustl.edu 37 11 66360309 66360309 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 66360309 66360309 T C SNP CCDC87 ENST00000333861 human ensembl 74_37 -1 known missense c.178 p.S60G 0.027 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC ENSG00000182791 96 0 0 31 10 24.3902 PC 0 genome.wustl.edu 37 11 66618281 66618281 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 66618281 66618281 G A SNP PC ENST00000393958 human ensembl 74_37 -1 known silent c.2337 p.G779 0.302 pfam_PYR_CT,pirsf_Pyruv_COase,pfscan_PYR_CT,tigrfam_Pyruv_COase pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase - no_errors PC HGNC ENSG00000173599 89 0 0 22 19 46.3415 RPS6KB2 0 genome.wustl.edu 37 11 67200863 67200863 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 67200863 67200863 G T SNP RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known missense c.851 p.G284V 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 248 0 0 51 26 33.7662 CABP4 0 genome.wustl.edu 37 11 67225095 67225095 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 67225095 67225095 T G SNP CABP4 ENST00000325656 human ensembl 74_37 +1 known missense c.593 p.L198R 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP4 HGNC ENSG00000175544 23 0 0 7 2 22.2222 TMEM134 0 genome.wustl.edu 37 11 67234711 67234711 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 67234711 67234711 C T SNP TMEM134 ENST00000541059 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors TMEM134 HGNC ENSG00000172663 44 0 0 23 6 20.6897 UNC93B1 0 genome.wustl.edu 37 11 67766651 67766651 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 67766651 67766651 A G SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.679 p.F227L 1.000 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 143 0 0 48 7 12.7273 ANO1 0 genome.wustl.edu 37 11 70028683 70028683 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 70028683 70028683 A G SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.2479 p.M827V 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 80 0 0 43 4 8.51064 ZNF705E 0 genome.wustl.edu 37 11 71529219 71529219 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 71529219 71529219 C T SNP ZNF705E ENST00000525199 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF705E HGNC ENSG00000214534 135 0 0 70 38 35.1852 P2RY2 0 genome.wustl.edu 37 11 72945484 72945484 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 72945484 72945484 G A SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 93 0 0 70 9 11.3924 C2CD3 0 genome.wustl.edu 37 11 73806439 73806439 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 73806439 73806439 T C SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known silent c.2994 p.G998 0.997 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 172 0 0 117 10 7.87402 B3GNT6 0 genome.wustl.edu 37 11 76750860 76750860 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 76750860 76750860 A G SNP B3GNT6 ENST00000533140 human ensembl 74_37 +1 known missense c.265 p.I89V 0.612 NULL pfam_Glyco_trans_31 - no_errors B3GNT6 HGNC ENSG00000198488 16 0 0 5 3 37.5 TENM4 0 genome.wustl.edu 37 11 78369151 78369151 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 78369151 78369151 G A SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.8262 p.S2754 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 507 1 0.19685 204 75 26.8817 NRIP3 0 genome.wustl.edu 37 11 9005620 9005620 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 9005620 9005620 T C SNP NRIP3 ENST00000309166 human ensembl 74_37 -1 known missense c.614 p.K205R 1.000 pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom pfam_Peptidase_aspartic_DDI1-type,superfamily_Peptidase_aspartic_dom - no_errors NRIP3 HGNC ENSG00000175352 283 0 0 132 14 9.58904 SCUBE2 0 genome.wustl.edu 37 11 9100944 9100944 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 9100944 9100944 A G SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known silent c.369 p.G123 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 131 0 0 55 32 36.7816 SNORA1 0 genome.wustl.edu 37 11 93465186 93465186 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 93465186 93465186 A G SNP SNORA1 ENST00000384107 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SNORA1 HGNC ENSG00000206834 51 0 0 32 18 36 SESN3 0 genome.wustl.edu 37 11 94918548 94918548 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 94918548 94918548 T C SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known missense c.634 p.I212V 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 278 0 0 146 18 10.9756 SBF2 0 genome.wustl.edu 37 11 9875116 9875116 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 9875116 9875116 T C SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.2507 p.H836R 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,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 SBF2 HGNC ENSG00000133812 184 0 0 86 52 37.6812 SCYL2 0 genome.wustl.edu 37 12 100717349 100717349 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 100717349 100717349 A G SNP SCYL2 ENST00000360820 human ensembl 74_37 +1 known missense c.1442 p.Y481C 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors SCYL2 HGNC ENSG00000136021 136 0 0 53 18 25.3521 UTP20 0 genome.wustl.edu 37 12 101773301 101773301 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 101773301 101773301 G T SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.7549 p.A2517S 0.997 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 188 0 0 100 11 9.90991 TXNRD1 0 genome.wustl.edu 37 12 104715036 104715036 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 104715036 104715036 T C SNP TXNRD1 ENST00000429002 human ensembl 74_37 +1 known missense c.1157 p.I386T 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 127 0 0 83 25 23.1481 BTBD11 0 genome.wustl.edu 37 12 107713788 107713788 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 107713788 107713788 C T SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known silent c.1071 p.N357 1.000 superfamily_Histone-fold pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 49 0 0 14 9 39.1304 ASCL4 0 genome.wustl.edu 37 12 108169151 108169151 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 108169151 108169151 C T SNP ASCL4 ENST00000342331 human ensembl 74_37 +1 known silent c.159 p.S53 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ASCL4 HGNC ENSG00000187855 28 0 0 21 12 36.3636 GIT2 0 genome.wustl.edu 37 12 110427530 110427530 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 110427530 110427530 A G SNP GIT2 ENST00000355312 human ensembl 74_37 -1 known silent c.264 p.S88 0.528 pfam_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_ArfGAP,pfscan_ArfGAP 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 136 0 0 71 26 26.8041 ACAD10 0 genome.wustl.edu 37 12 112193494 112193494 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 112193494 112193494 T C SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.3077 p.M1026T 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 305 0 0 70 42 37.5 NAA25 0 genome.wustl.edu 37 12 112525546 112525546 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 112525546 112525546 A G SNP NAA25 ENST00000261745 human ensembl 74_37 -1 known missense c.343 p.Y115H 1.000 pfscan_TPR-contain_dom pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 172 0 0 134 24 15.1899 HECTD4 0 genome.wustl.edu 37 12 112650388 112650388 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 112650388 112650388 T C SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.7016 p.K2339R 1.000 superfamily_ConA-like_lec_gl_sf pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 121 0 0 69 10 12.6582 RPH3A 0 genome.wustl.edu 37 12 113314515 113314515 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 113314515 113314515 T C SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.1015 p.Y339H 0.131 NULL pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 78 0 0 21 15 41.6667 SDS 0 genome.wustl.edu 37 12 113830824 113830824 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 113830824 113830824 G A SNP SDS ENST00000257549 human ensembl 74_37 -1 known silent c.909 p.C303 0.292 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC ENSG00000135094 324 1 0.307692 144 40 21.7391 SDS 0 genome.wustl.edu 37 12 113835115 113835115 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 113835115 113835115 C T SNP SDS ENST00000257549 human ensembl 74_37 -1 known missense c.508 p.G170R 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC ENSG00000135094 156 0 0 63 26 29.2135 PRB3 0 genome.wustl.edu 37 12 11420716 11420716 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 11420716 11420716 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.467 p.P156L 0.000 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 153 0 0 100 34 25.3731 PRB3 0 genome.wustl.edu 37 12 11420779 11420779 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 11420779 11420779 G A SNP PRB3 ENST00000381842 human ensembl 74_37 -1 known missense c.404 p.P135L 0.008 NULL NULL - no_errors PRB3 HGNC ENSG00000197870 293 0 0 115 50 30.303 TBX5 0 genome.wustl.edu 37 12 114841672 114841672 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 114841672 114841672 G A SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.32 p.A11V 0.895 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 65 0 0 11 14 56 PRB2 0 genome.wustl.edu 37 12 11546360 11546360 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 11546360 11546360 G A SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known missense c.652 p.P218S 0.472 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 590 0 0 201 107 34.7403 FBXO21 0 genome.wustl.edu 37 12 117595816 117595816 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 117595816 117595816 G A SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.1400 p.A467V 1.000 superfamily_F-box_dom pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,superfamily_F-box_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_errors FBXO21 HGNC ENSG00000135108 551 1 0.181159 182 93 33.8182 NOS1 0 genome.wustl.edu 37 12 117768159 117768159 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 117768159 117768159 T C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.716 p.Q239R 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 141 0 0 59 22 27.1605 SRRM4 0 genome.wustl.edu 37 12 119540084 119540084 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 119540084 119540084 C A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.175 p.P59T 0.989 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 69 0 0 21 11 34.375 RNF10 0 genome.wustl.edu 37 12 121014523 121014523 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 121014523 121014523 C T SNP RNF10 ENST00000535470 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RNF10 HGNC ENSG00000022840 142 0 0 48 19 28.3582 KDM2B 0 genome.wustl.edu 37 12 121878620 121878620 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 121878620 121878620 T C SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.3609 p.P1203 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 74 0 0 35 13 27.0833 KDM2B 0 genome.wustl.edu 37 12 121881856 121881856 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 121881856 121881856 G A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known missense c.2410 p.R804W 1.000 NULL pfam_Znf_CXXC,pfam_F-box_dom,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KDM2B HGNC ENSG00000089094 220 0 0 66 36 35.2941 RHOF 0 genome.wustl.edu 37 12 122217517 122217517 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 122217517 122217517 C T SNP RHOF ENST00000267205 human ensembl 74_37 -1 known missense c.523 p.A175T 0.996 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOF HGNC ENSG00000139725 227 0 0 50 20 28.5714 VPS33A 0 genome.wustl.edu 37 12 122735574 122735574 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 122735574 122735574 A G SNP VPS33A ENST00000267199 human ensembl 74_37 -1 known missense c.556 p.Y186H 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33A HGNC ENSG00000139719 116 0 0 49 20 28.9855 SBNO1 0 genome.wustl.edu 37 12 123793937 123793937 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 123793937 123793937 T C SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known missense c.3550 p.R1184G 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 151 0 0 107 45 29.6053 FZD10 0 genome.wustl.edu 37 12 130647985 130647985 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 130647985 130647985 G A SNP FZD10 ENST00000539839 human ensembl 74_37 +1 known missense c.400 p.A134T 0.987 NULL NULL - no_errors FZD10 HGNC ENSG00000111432 121 0 0 54 19 26.0274 GPR133 0 genome.wustl.edu 37 12 131593316 131593316 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 131593316 131593316 T C SNP GPR133 ENST00000261654 human ensembl 74_37 +1 known silent c.1935 p.S645 0.992 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR133 HGNC ENSG00000111452 388 0 0 115 53 31.5476 SFSWAP 0 genome.wustl.edu 37 12 132199458 132199458 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 132199458 132199458 G A SNP SFSWAP ENST00000261674 human ensembl 74_37 +1 known silent c.480 p.P160 0.832 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 144 0 0 45 18 28.5714 ULK1 0 genome.wustl.edu 37 12 132400493 132400493 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 132400493 132400493 G T SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.1667 p.S556I 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 96 0 0 24 12 33.3333 EP400 0 genome.wustl.edu 37 12 132528817 132528817 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 132528817 132528817 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.6654 p.A2218 0.970 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 91 0 0 29 12 29.2683 EP400 0 genome.wustl.edu 37 12 132539741 132539741 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 132539741 132539741 T C SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.7980 p.P2660 0.803 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 12 0 0 5 5 50 ZNF10 0 genome.wustl.edu 37 12 133733304 133733304 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 133733304 133733304 G A SNP ZNF10 ENST00000248211 human ensembl 74_37 +1 known missense c.1472 p.C491Y 0.991 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 ZNF10 HGNC ENSG00000256223 125 0 0 57 32 35.9551 ZNF268 0 genome.wustl.edu 37 12 133768141 133768141 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 133768141 133768141 G A SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.301 p.A101T 0.376 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF268 HGNC ENSG00000090612 72 0 0 41 4 8.88889 GUCY2C 0 genome.wustl.edu 37 12 14849285 14849285 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 14849285 14849285 C A SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.98 p.G33V 0.001 superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 64 0 0 36 14 28 IQSEC3 0 genome.wustl.edu 37 12 176562 176562 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 176562 176562 C A SNP IQSEC3 ENST00000326261 human ensembl 74_37 +1 known missense c.514 p.P172T 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC3 HGNC ENSG00000120645 52 0 0 7 3 30 PLEKHA5 0 genome.wustl.edu 37 12 19498775 19498775 + Splice_Site SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 19498775 19498775 G T SNP PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known splice_site c.2354-1 e18-1 1.000 - - - no_errors PLEKHA5 HGNC ENSG00000052126 60 0 0 42 11 20.7547 SLCO1B7 0 genome.wustl.edu 37 12 21201650 21201650 + Silent SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 21201650 21201650 C G SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known silent c.1140 p.V380 0.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 10 0 0 3 4 57.1429 LDHB 0 genome.wustl.edu 37 12 21790024 21790024 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 21790024 21790024 G A SNP LDHB ENST00000350669 human ensembl 74_37 -1 known missense c.818 p.P273L 0.997 pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_L-lactate_DH 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,tigrfam_L-lactate_DH - no_errors LDHB HGNC ENSG00000111716 137 0 0 61 25 29.0698 SOX5 0 genome.wustl.edu 37 12 23728718 23728718 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 23728718 23728718 T C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known missense c.1219 p.K407E 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 189 0 0 50 36 41.8605 CASC1 0 genome.wustl.edu 37 12 25297532 25297532 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 25297532 25297532 G C SNP CASC1 ENST00000395987 human ensembl 74_37 -1 known missense c.769 p.R257G 0.010 pfam_Casc1_domain,prints_Casc1 pfam_Casc1_domain,prints_Casc1 - no_errors CASC1 HGNC ENSG00000118307 88 0 0 58 28 32.5581 ERGIC2 0 genome.wustl.edu 37 12 29524548 29524548 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 29524548 29524548 T C SNP ERGIC2 ENST00000360150 human ensembl 74_37 -1 known missense c.19 p.K7E 1.000 NULL pfam_Erv_C - no_errors ERGIC2 HGNC ENSG00000087502 72 0 0 21 19 47.5 ENSG00000245482 0 genome.wustl.edu 37 12 34175411 34175411 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 34175411 34175411 G A SNP ENSG00000245482 ENST00000501954 human ensembl 74_37 -1 known rna NULL NULL 0.323 - - - no_errors RP11-847H18.2 Clone_based_vega_gene ENSG00000245482 115 0 0 36 26 41.9355 EFCAB4B 0 genome.wustl.edu 37 12 3788146 3788146 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 3788146 3788146 G A SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known silent c.459 p.G153 0.009 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 182 0 0 55 39 41.4894 KIF21A 0 genome.wustl.edu 37 12 39720137 39720137 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 39720137 39720137 A T SNP KIF21A ENST00000395670 human ensembl 74_37 -1 known missense c.3330 p.H1110Q 0.046 NULL 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 41 0 0 19 5 20.8333 LRRK2 0 genome.wustl.edu 37 12 40714947 40714947 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 40714947 40714947 C A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.5127 p.I1709 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 136 0 0 73 42 36.5217 LRRK2 0 genome.wustl.edu 37 12 40748201 40748201 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 40748201 40748201 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.6677 p.V2226A 0.922 superfamily_WD40_repeat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 67 0 0 40 15 27.2727 PCED1B 0 genome.wustl.edu 37 12 47630062 47630062 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 47630062 47630062 C T SNP PCED1B ENST00000432328 human ensembl 74_37 +1 known missense c.1216 p.R406C 0.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 85 0 0 39 19 32.7586 HDAC7 0 genome.wustl.edu 37 12 48185709 48185709 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 48185709 48185709 C T SNP HDAC7 ENST00000380610 human ensembl 74_37 -1 known missense c.1808 p.R603H 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC7 HGNC ENSG00000061273 26 0 0 7 5 41.6667 H1FNT 0 genome.wustl.edu 37 12 48723395 48723395 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 48723395 48723395 G A SNP H1FNT ENST00000335017 human ensembl 74_37 +1 known silent c.321 p.T107 0.792 NULL NULL - no_errors H1FNT HGNC ENSG00000187166 43 0 0 13 5 27.7778 ANP32D 0 genome.wustl.edu 37 12 48866561 48866561 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 48866561 48866561 A G SNP ANP32D ENST00000266594 human ensembl 74_37 +1 known silent c.114 p.T38 0.980 NULL NULL - no_errors ANP32D HGNC ENSG00000139223 252 0 0 90 40 30.7692 ADCY6 0 genome.wustl.edu 37 12 49167856 49167856 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 49167856 49167856 C A SNP ADCY6 ENST00000307885 human ensembl 74_37 -1 known missense c.2309 p.R770L 0.003 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY6 HGNC ENSG00000174233 26 0 0 12 5 29.4118 KMT2D 0 genome.wustl.edu 37 12 49420206 49420206 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 49420206 49420206 C A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.15543 p.G5181 0.791 pfam_FYrich_N 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 73 0 0 47 5 9.61538 METTL7A 0 genome.wustl.edu 37 12 51319087 51319087 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 51319087 51319087 C T SNP METTL7A ENST00000332160 human ensembl 74_37 +1 known missense c.266 p.P89L 1.000 pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_SAM-MeTfrase_NodS-related pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel,pfam_SAM-MeTfrase_NodS-related - no_errors METTL7A HGNC ENSG00000185432 80 0 0 33 22 40 NR4A1 0 genome.wustl.edu 37 12 52448961 52448961 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 52448961 52448961 A G SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known silent c.1011 p.T337 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_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 109 0 0 50 6 10.7143 NR4A1 0 genome.wustl.edu 37 12 52450285 52450285 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 52450285 52450285 A G SNP NR4A1 ENST00000545748 human ensembl 74_37 +1 known silent c.1176 p.R392 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_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_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR4A1 HGNC ENSG00000123358 280 0 0 110 50 31.25 KRT3 0 genome.wustl.edu 37 12 53184633 53184633 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 53184633 53184633 G A SNP KRT3 ENST00000309505 human ensembl 74_37 -1 known missense c.1562 p.A521V 0.999 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT3 HGNC ENSG00000186442 18 0 0 6 4 40 HOXC13 0 genome.wustl.edu 37 12 54333276 54333276 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 54333276 54333276 G A SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known missense c.586 p.G196R 1.000 NULL pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXC13 HGNC ENSG00000123364 44 0 0 14 13 48.1481 NFE2 0 genome.wustl.edu 37 12 54686659 54686659 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 54686659 54686659 G T SNP NFE2 ENST00000312156 human ensembl 74_37 -1 known silent c.621 p.P207 0.496 NULL pfam_bZIP,pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 80 0 0 30 16 34.7826 OR6C74 0 genome.wustl.edu 37 12 55641513 55641513 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 55641513 55641513 A G SNP OR6C74 ENST00000343870 human ensembl 74_37 +1 known missense c.442 p.M148V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C74 HGNC ENSG00000197706 112 0 0 88 34 27.8689 DGKA 0 genome.wustl.edu 37 12 56333951 56333951 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 56333951 56333951 T C SNP DGKA ENST00000331886 human ensembl 74_37 +1 known silent c.795 p.I265 1.000 NULL 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 197 0 0 81 49 37.6923 TIMELESS 0 genome.wustl.edu 37 12 56816646 56816646 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 56816646 56816646 C A SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known missense c.2423 p.G808V 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 176 0 0 47 30 38.961 LRP1 0 genome.wustl.edu 37 12 57571256 57571256 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 57571256 57571256 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.4243 p.A1415T 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 102 1 0.970874 76 5 6.17284 SHMT2 0 genome.wustl.edu 37 12 57627675 57627675 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 57627675 57627675 G A SNP SHMT2 ENST00000328923 human ensembl 74_37 +1 known missense c.1267 p.G423S 1.000 pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase,pirsf_Ser_HO-MeTrfase - no_errors SHMT2 HGNC ENSG00000182199 85 0 0 53 16 23.1884 ENSG00000257342 0 genome.wustl.edu 37 12 58114785 58114785 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 58114785 58114785 C T SNP ENSG00000257342 ENST00000549477 human ensembl 74_37 -1 known rna NULL NULL 0.093 - - - no_errors RP11-571M6.7 Clone_based_vega_gene ENSG00000257342 20 0 0 11 6 35.2941 NOP2 0 genome.wustl.edu 37 12 6670152 6670152 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 6670152 6670152 C T SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.1292 p.R431Q 1.000 pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,tigrfam_Nop2p pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 61 0 0 16 6 27.2727 CHD4 0 genome.wustl.edu 37 12 6715477 6715477 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 6715477 6715477 A G SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.63 p.D21 0.998 NULL 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 144 0 0 42 9 17.6471 LEPREL2 0 genome.wustl.edu 37 12 6943194 6943194 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 6943194 6943194 T C SNP LEPREL2 ENST00000396725 human ensembl 74_37 +1 known missense c.1436 p.V479A 0.000 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors LEPREL2 HGNC ENSG00000110811 123 0 0 81 7 7.95455 ATN1 0 genome.wustl.edu 37 12 7045763 7045763 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 7045763 7045763 C T SNP ATN1 ENST00000356654 human ensembl 74_37 +1 known missense c.1333 p.P445S 0.527 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 533 0 0 237 34 12.5461 EMG1 0 genome.wustl.edu 37 12 7084290 7084290 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 7084290 7084290 G T SNP EMG1 ENST00000261406 human ensembl 74_37 +1 known missense c.448 p.G150C 1.000 pfam_Rbsml_bgen_MeTrfase_EMG1/NEP1 pfam_Rbsml_bgen_MeTrfase_EMG1/NEP1 - no_errors EMG1 HGNC ENSG00000126749 107 0 0 44 27 38.0282 PEX5 0 genome.wustl.edu 37 12 7343037 7343037 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 7343037 7343037 G A SNP PEX5 ENST00000434354 human ensembl 74_37 +1 known missense c.64 p.G22R 0.078 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC ENSG00000139197 124 0 0 42 23 35.3846 C12orf50 0 genome.wustl.edu 37 12 88380180 88380180 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 88380180 88380180 C T SNP C12orf50 ENST00000298699 human ensembl 74_37 -1 known silent c.831 p.Q277 1.000 NULL NULL - no_errors C12orf50 HGNC ENSG00000165805 81 0 0 22 18 45 A2M 0 genome.wustl.edu 37 12 9251272 9251272 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 9251272 9251272 G T SNP A2M ENST00000318602 human ensembl 74_37 -1 known silent c.1782 p.V594 0.934 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin - no_errors A2M HGNC ENSG00000175899 37 0 0 6 4 40 CCDC41 0 genome.wustl.edu 37 12 94761653 94761653 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 94761653 94761653 T A SNP CCDC41 ENST00000339839 human ensembl 74_37 -1 known missense c.1260 p.Q420H 0.821 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 166 0 0 70 30 30 ANKS1B 0 genome.wustl.edu 37 12 99640299 99640299 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 99640299 99640299 G T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.2100 p.D700E 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 106 0 0 38 28 42.4242 COL4A1 0 genome.wustl.edu 37 13 110804758 110804758 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 110804758 110804758 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.4851 p.H1617 0.990 pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 61 0 0 35 18 33.9623 COL4A1 0 genome.wustl.edu 37 13 110833685 110833685 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 110833685 110833685 G A SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.2147 p.P716L 0.936 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 64 0 0 42 6 12.5 COL4A1 0 genome.wustl.edu 37 13 110857865 110857865 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 110857865 110857865 A G SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known silent c.879 p.G293 0.932 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 330 0 0 104 57 35.4037 MCF2L 0 genome.wustl.edu 37 13 113736828 113736828 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 113736828 113736828 A G SNP MCF2L ENST00000375604 human ensembl 74_37 +1 known missense c.2134 p.M712V 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 59 0 0 24 9 27.2727 TFDP1 0 genome.wustl.edu 37 13 114292142 114292142 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 114292142 114292142 A G SNP TFDP1 ENST00000375370 human ensembl 74_37 +1 known missense c.1016 p.Q339R 1.000 pfam_Transc_factor_DP_C,pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP1 HGNC ENSG00000198176 158 0 0 66 20 23.2558 CDC16 0 genome.wustl.edu 37 13 115012445 115012445 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 115012445 115012445 G A SNP CDC16 ENST00000356221 human ensembl 74_37 +1 known missense c.937 p.G313S 1.000 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 99 0 0 54 25 31.6456 IL17D 0 genome.wustl.edu 37 13 21295832 21295832 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 21295832 21295832 C T SNP IL17D ENST00000304920 human ensembl 74_37 +1 known silent c.348 p.C116 1.000 pfam_IL-17_fam,prints_IL-17_chr pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17D HGNC ENSG00000172458 80 0 0 25 14 35.8974 LATS2 0 genome.wustl.edu 37 13 21563416 21563416 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 21563416 21563416 G A SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.503 p.T168M 0.010 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 144 0 0 39 19 32.7586 FGF9 0 genome.wustl.edu 37 13 22246259 22246259 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 22246259 22246259 A G SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.208 p.T70A 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 168 0 0 55 23 29.4872 SACS 0 genome.wustl.edu 37 13 23904309 23904309 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 23904309 23904309 A G SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.13706 p.I4569T 1.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 66 0 0 58 23 28.3951 AMER2 0 genome.wustl.edu 37 13 25744572 25744572 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 25744572 25744572 A G SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.1186 p.C396R 0.994 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 88 0 0 30 13 30.2326 AMER2 0 genome.wustl.edu 37 13 25745359 25745359 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 25745359 25745359 G A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known silent c.399 p.G133 0.973 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 13 0 0 6 3 33.3333 AMER2 0 genome.wustl.edu 37 13 25745594 25745594 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 25745594 25745594 G T SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.164 p.A55D 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 73 0 0 19 12 38.7097 AMER2 0 genome.wustl.edu 37 13 25745681 25745681 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 25745681 25745681 C T SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.77 p.C26Y 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 28 0 0 16 5 23.8095 GSX1 0 genome.wustl.edu 37 13 28367833 28367833 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 28367833 28367833 G A SNP GSX1 ENST00000302945 human ensembl 74_37 +1 known silent c.543 p.A181 0.931 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GSX1 HGNC ENSG00000169840 175 0 0 72 8 10 SLC7A1 0 genome.wustl.edu 37 13 30104719 30104719 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 30104719 30104719 C T SNP SLC7A1 ENST00000380752 human ensembl 74_37 -1 known silent c.660 p.T220 0.006 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 325 0 0 92 51 35.6643 DCLK1 0 genome.wustl.edu 37 13 36699971 36699971 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 36699971 36699971 G A SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.304 p.P102S 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 123 1 0.806452 46 19 29.2308 ALG5 0 genome.wustl.edu 37 13 37524043 37524043 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 37524043 37524043 T C SNP ALG5 ENST00000486410 human ensembl 74_37 -1 known rna NULL NULL 0.041 - - - no_errors ALG5 HGNC ENSG00000120697 57 0 0 27 16 37.2093 TRPC4 0 genome.wustl.edu 37 13 38357091 38357091 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 38357091 38357091 A G SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known splice_site c.378+2 e1+2 1.000 - - - no_errors TRPC4 HGNC ENSG00000133107 76 0 0 52 13 20 ELF1 0 genome.wustl.edu 37 13 41556143 41556143 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 41556143 41556143 A G SNP ELF1 ENST00000239882 human ensembl 74_37 -1 known silent c.48 p.S16 1.000 pfam_TF_Elf_N pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF1 HGNC ENSG00000120690 149 0 0 77 7 8.33333 RCBTB2 0 genome.wustl.edu 37 13 49084763 49084763 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 49084763 49084763 A G SNP RCBTB2 ENST00000430805 human ensembl 74_37 -1 known splice_site c.941+2 e7+2 1.000 - - - no_errors RCBTB2 HGNC ENSG00000136161 158 0 0 74 38 33.9286 FNDC3A 0 genome.wustl.edu 37 13 49771028 49771028 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 49771028 49771028 G A SNP FNDC3A ENST00000492622 human ensembl 74_37 +1 known missense c.2242 p.E748K 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3A HGNC ENSG00000102531 81 0 0 29 14 32.5581 FAM124A 0 genome.wustl.edu 37 13 51826207 51826207 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 51826207 51826207 A G SNP FAM124A ENST00000280057 human ensembl 74_37 +1 known missense c.812 p.D271G 1.000 NULL NULL - no_errors FAM124A HGNC ENSG00000150510 131 0 0 64 9 12.3288 PCDH20 0 genome.wustl.edu 37 13 61987108 61987108 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 61987108 61987108 T C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1124 p.E375G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 196 0 0 110 54 32.9268 LOC101927016 0 genome.wustl.edu 37 13 64321091 64321091 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 64321091 64321091 G A SNP LOC101927016 ENST00000453638 human ensembl 74_37 +1 known missense c.158 p.G53D 0.725 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 63 0 0 25 15 37.5 EDNRB 0 genome.wustl.edu 37 13 78492668 78492668 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 78492668 78492668 G A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.41 p.A14V 0.993 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 54 0 0 28 9 24.3243 GPC6 0 genome.wustl.edu 37 13 94197638 94197638 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 94197638 94197638 C T SNP GPC6 ENST00000377047 human ensembl 74_37 +1 known missense c.283 p.R95C 0.995 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 199 0 0 102 52 33.7662 TGDS 0 genome.wustl.edu 37 13 95235385 95235385 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 95235385 95235385 A G SNP TGDS ENST00000261296 human ensembl 74_37 -1 known missense c.419 p.V140A 0.998 pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_Male_sterile_NAD-bd - no_errors TGDS HGNC ENSG00000088451 117 0 0 56 24 30 HS6ST3 0 genome.wustl.edu 37 13 96743228 96743228 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 96743228 96743228 G A SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.112 p.G38R 1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 61 0 0 17 8 32 HS6ST3 0 genome.wustl.edu 37 13 97485036 97485036 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 97485036 97485036 A C SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.1000 p.N334H 0.995 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 156 0 0 62 33 34.7368 GPR18 0 genome.wustl.edu 37 13 99907196 99907196 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 99907196 99907196 G A SNP GPR18 ENST00000340807 human ensembl 74_37 -1 known missense c.931 p.R311C 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR18 HGNC ENSG00000125245 147 0 0 74 40 35.0877 DEGS2 0 genome.wustl.edu 37 14 100615982 100615982 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 100615982 100615982 G A SNP DEGS2 ENST00000305631 human ensembl 74_37 -1 known silent c.148 p.L50 0.070 pirsf_Sphingolipid_d4-desaturase pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase - no_errors DEGS2 HGNC ENSG00000168350 53 0 0 9 6 40 SLC25A29 0 genome.wustl.edu 37 14 100759713 100759713 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 100759713 100759713 A G SNP SLC25A29 ENST00000359232 human ensembl 74_37 -1 known missense c.80 p.V27A 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A29 HGNC ENSG00000197119 28 0 0 25 5 16.6667 DLK1 0 genome.wustl.edu 37 14 101193431 101193431 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 101193431 101193431 G A SNP DLK1 ENST00000341267 human ensembl 74_37 +1 known missense c.26 p.R9H 0.975 NULL pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DLK1 HGNC ENSG00000185559 49 0 0 14 7 33.3333 MIR382 0 genome.wustl.edu 37 14 101520692 101520692 + RNA SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 101520692 101520692 C G SNP MIR382 ENST00000385009 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR382 HGNC ENSG00000207742 34 0 0 19 9 32.1429 MIR485 0 genome.wustl.edu 37 14 101521786 101521786 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 101521786 101521786 G A SNP MIR485 ENST00000385292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR485 HGNC ENSG00000208027 111 0 0 53 22 29.3333 MIR485 0 genome.wustl.edu 37 14 101521804 101521804 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 101521804 101521804 A G SNP MIR485 ENST00000385292 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR485 HGNC ENSG00000208027 101 0 0 38 22 36.6667 DYNC1H1 0 genome.wustl.edu 37 14 102515817 102515817 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 102515817 102515817 C T SNP DYNC1H1 ENST00000360184 human ensembl 74_37 +1 known silent c.13413 p.A4471 0.115 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,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 88 0 0 40 16 28.5714 AHNAK2 0 genome.wustl.edu 37 14 105407107 105407107 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 105407107 105407107 G T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.14681 p.S4894Y 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 92 0 0 38 30 44.1176 AHNAK2 0 genome.wustl.edu 37 14 105410777 105410777 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 105410777 105410777 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11011 p.D3671N 0.731 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 347 0 0 169 90 34.749 AHNAK2 0 genome.wustl.edu 37 14 105415855 105415855 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 105415855 105415855 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.5933 p.D1978G 0.154 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 515 0 0 198 118 37.3418 POTEG 0 genome.wustl.edu 37 14 19553817 19553817 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 19553817 19553817 A G SNP POTEG ENST00000409832 human ensembl 74_37 +1 known missense c.401 p.H134R 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 505 0 0 251 24 8.72727 OR4N5 0 genome.wustl.edu 37 14 20612024 20612024 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 20612024 20612024 C T SNP OR4N5 ENST00000333629 human ensembl 74_37 +1 known missense c.130 p.L44F 0.001 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR4N5 HGNC ENSG00000184394 434 0 0 230 121 34.4729 TOX4 0 genome.wustl.edu 37 14 21957487 21957487 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 21957487 21957487 T C SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.735 p.N245 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 345 0 0 120 48 28.5714 TOX4 0 genome.wustl.edu 37 14 21957499 21957499 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 21957499 21957499 T C SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.747 p.T249 0.995 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 326 0 0 144 10 6.49351 DCAF11 0 genome.wustl.edu 37 14 24586179 24586179 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 24586179 24586179 A G SNP DCAF11 ENST00000396941 human ensembl 74_37 +1 known splice_site c.133-2 e2-2 1.000 - - - no_errors DCAF11 HGNC ENSG00000100897 190 0 0 57 37 39.3617 IRF9 0 genome.wustl.edu 37 14 24631403 24631403 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 24631403 24631403 T C SNP IRF9 ENST00000396864 human ensembl 74_37 +1 known missense c.50 p.V17A 1.000 pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 232 0 0 83 34 29.0598 NOP9 0 genome.wustl.edu 37 14 24771314 24771314 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 24771314 24771314 T C SNP NOP9 ENST00000267425 human ensembl 74_37 +1 known splice_site c.950+2 e4+2 0.997 - - - no_errors NOP9 HGNC ENSG00000196943 170 0 0 134 60 30.9278 CBLN3 0 genome.wustl.edu 37 14 24897157 24897157 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 24897157 24897157 T C SNP CBLN3 ENST00000267406 human ensembl 74_37 -1 known silent c.456 p.S152 0.980 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 81 0 0 63 15 19.2308 KHNYN 0 genome.wustl.edu 37 14 24905387 24905387 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 24905387 24905387 T C SNP KHNYN ENST00000251343 human ensembl 74_37 +1 known splice_site c.1685+2 e5+2 1.000 - - - no_errors KHNYN HGNC ENSG00000100441 85 0 0 31 16 34.0426 TTC6 0 genome.wustl.edu 37 14 38296474 38296474 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 38296474 38296474 T C SNP TTC6 ENST00000478811 human ensembl 74_37 +1 known missense c.1394 p.M465T 1.000 pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC6 HGNC ENSG00000139865 199 0 0 124 12 8.82353 SEC23A 0 genome.wustl.edu 37 14 39556131 39556131 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 39556131 39556131 A G SNP SEC23A ENST00000307712 human ensembl 74_37 -1 known splice_site c.683+2 e5+2 1.000 - - - no_errors SEC23A HGNC ENSG00000100934 82 0 0 25 10 28.5714 LRFN5 0 genome.wustl.edu 37 14 42356881 42356881 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 42356881 42356881 T A SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.1053 p.D351E 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 142 0 0 78 47 37.6 MIS18BP1 0 genome.wustl.edu 37 14 45697006 45697006 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 45697006 45697006 T C SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.1606 p.N536D 0.000 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 97 0 0 69 22 24.1758 NEMF 0 genome.wustl.edu 37 14 50269385 50269385 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 50269385 50269385 A G SNP NEMF ENST00000298310 human ensembl 74_37 -1 known splice_site c.1974+2 e21+2 1.000 - - - no_errors NEMF HGNC ENSG00000165525 90 0 0 55 17 23.6111 ABHD12B 0 genome.wustl.edu 37 14 51370784 51370784 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 51370784 51370784 G A SNP ABHD12B ENST00000553715 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ABHD12B HGNC ENSG00000131969 217 0 0 84 51 37.7778 PTGDR 0 genome.wustl.edu 37 14 52735271 52735271 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 52735271 52735271 C T SNP PTGDR ENST00000306051 human ensembl 74_37 +1 known missense c.739 p.R247C 0.029 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt - no_errors PTGDR HGNC ENSG00000168229 154 0 0 80 42 34.4262 DLGAP5 0 genome.wustl.edu 37 14 55643915 55643915 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 55643915 55643915 T C SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known missense c.914 p.N305S 0.013 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 64 0 0 64 4 5.88235 AP5M1 0 genome.wustl.edu 37 14 57741070 57741070 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 57741070 57741070 A G SNP AP5M1 ENST00000261558 human ensembl 74_37 +1 known silent c.183 p.L61 0.856 NULL pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C - no_errors AP5M1 HGNC ENSG00000053770 85 0 0 67 27 28.7234 DAAM1 0 genome.wustl.edu 37 14 59798558 59798558 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 59798558 59798558 G A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.1888 p.E630K 1.000 pfam_FH2_Formin,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 348 0 0 138 61 30.6533 PCNXL4 0 genome.wustl.edu 37 14 60581848 60581848 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 60581848 60581848 T C SNP PCNXL4 ENST00000404681 human ensembl 74_37 +1 known silent c.1026 p.D342 0.021 NULL pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 138 0 0 52 35 40.2299 SLC38A6 0 genome.wustl.edu 37 14 61518547 61518547 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 61518547 61518547 T C SNP SLC38A6 ENST00000354886 human ensembl 74_37 +1 known missense c.1093 p.F365L 0.996 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A6 HGNC ENSG00000139974 100 0 0 45 26 36.6197 RHOJ 0 genome.wustl.edu 37 14 63757612 63757612 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 63757612 63757612 A G SNP RHOJ ENST00000316754 human ensembl 74_37 +1 known missense c.515 p.Y172C 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOJ HGNC ENSG00000126785 108 0 0 75 10 11.7647 SYNE2 0 genome.wustl.edu 37 14 64491108 64491108 + Nonsense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 64491108 64491108 T A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known nonsense c.5771 p.L1924* 0.922 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 141 0 0 43 25 36.7647 SPTB 0 genome.wustl.edu 37 14 65260496 65260496 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 65260496 65260496 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.1885 p.R629W 1.000 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 111 0 0 46 16 25.8065 SPTB 0 genome.wustl.edu 37 14 65262178 65262178 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 65262178 65262178 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.1521 p.L507 1.000 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 129 0 0 54 24 30.7692 SIPA1L1 0 genome.wustl.edu 37 14 72128176 72128176 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 72128176 72128176 C A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known silent c.2247 p.V749 0.999 pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 72 0 0 27 24 47.0588 ELMSAN1 0 genome.wustl.edu 37 14 74206625 74206625 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 74206625 74206625 G T SNP ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known silent c.87 p.P29 0.123 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 146 0 0 49 8 14.0351 RPS6KL1 0 genome.wustl.edu 37 14 75388063 75388063 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 75388063 75388063 A G SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known missense c.182 p.L61P 1.000 pfam_MIT,smart_MIT pfam_Prot_kinase_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 172 0 0 63 15 19.2308 TTLL5 0 genome.wustl.edu 37 14 76238159 76238159 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 76238159 76238159 T C SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.2098 p.F700L 0.386 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 161 0 0 108 38 26.0274 KIAA1737 0 genome.wustl.edu 37 14 77572054 77572054 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 77572054 77572054 G A SNP KIAA1737 ENST00000361786 human ensembl 74_37 +1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 197 0 0 52 28 35 SAMD15 0 genome.wustl.edu 37 14 77844056 77844056 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 77844056 77844056 A G SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known missense c.295 p.T99A 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 338 0 0 120 27 18.3673 SAMD15 0 genome.wustl.edu 37 14 77844361 77844361 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 77844361 77844361 A G SNP SAMD15 ENST00000216471 human ensembl 74_37 +1 known silent c.600 p.Q200 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 187 0 0 72 20 21.7391 NRXN3 0 genome.wustl.edu 37 14 79434538 79434538 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 79434538 79434538 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known silent c.2958 p.L986 0.974 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 119 0 0 68 6 8.10811 KCNK10 0 genome.wustl.edu 37 14 88652430 88652430 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 88652430 88652430 G A SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known nonsense c.1081 p.R361* 1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 64 0 0 18 7 28 TDP1 0 genome.wustl.edu 37 14 90450954 90450954 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 90450954 90450954 T C SNP TDP1 ENST00000335725 human ensembl 74_37 +1 known silent c.979 p.L327 0.989 pfam_Tyr-DNA_phospho pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC ENSG00000042088 220 0 0 109 69 38.764 CATSPERB 0 genome.wustl.edu 37 14 92126195 92126195 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 92126195 92126195 T C SNP CATSPERB ENST00000256343 human ensembl 74_37 -1 known missense c.1418 p.Y473C 0.511 superfamily_Sialidases superfamily_Sialidases - no_errors CATSPERB HGNC ENSG00000133962 70 0 0 61 29 32.2222 UNC79 0 genome.wustl.edu 37 14 94063774 94063774 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 94063774 94063774 A G SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.3260 p.Y1087C 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 153 1 0.649351 78 18 18.75 ATG2B 0 genome.wustl.edu 37 14 96794867 96794867 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 96794867 96794867 A G SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known silent c.1980 p.N660 0.972 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 70 0 0 43 6 12.2449 CERS3 0 genome.wustl.edu 37 15 101041961 101041961 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 101041961 101041961 C T SNP CERS3 ENST00000284382 human ensembl 74_37 -1 known missense c.94 p.V32I 0.149 pirsf_Longevity_assurance_LAG1_LAC1 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS3 HGNC ENSG00000154227 126 0 0 61 31 33.6957 HERC2P3 0 genome.wustl.edu 37 15 20645813 20645813 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 20645813 20645813 T C SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors HERC2P3 HGNC ENSG00000180229 67 0 0 30 4 11.7647 MAGEL2 0 genome.wustl.edu 37 15 23891069 23891069 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 23891069 23891069 C A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.12 p.Q4H 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 10 0 0 7 4 36.3636 NPAP1 0 genome.wustl.edu 37 15 24923624 24923624 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 24923624 24923624 A G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.2610 p.Q870 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 178 1 0.558659 78 41 34.4538 GABRB3 0 genome.wustl.edu 37 15 26806130 26806130 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 26806130 26806130 T C SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known silent c.1029 p.A343 0.269 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 239 0 0 100 58 36.7089 HERC2 0 genome.wustl.edu 37 15 28408274 28408274 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 28408274 28408274 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.10712 p.A3571V 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 153 0 0 46 25 35.2113 HERC2 0 genome.wustl.edu 37 15 28460840 28460840 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 28460840 28460840 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.6137 p.P2046L 0.999 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 52 0 0 20 7 25.9259 APBA2 0 genome.wustl.edu 37 15 29368282 29368282 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 29368282 29368282 A G SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.1057 p.S353G 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 199 0 0 78 38 32.7586 APBA2 0 genome.wustl.edu 37 15 29385292 29385292 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 29385292 29385292 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known missense c.1084 p.E362K 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA2 HGNC ENSG00000034053 131 1 0.757576 54 20 27.027 ARHGAP11B 0 genome.wustl.edu 37 15 30919028 30919028 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 30919028 30919028 G A SNP ARHGAP11B ENST00000428041 human ensembl 74_37 +1 known nonsense c.5 p.W2* 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11B HGNC ENSG00000187951 113 1 0.877193 27 15 35.7143 ZNF770 0 genome.wustl.edu 37 15 35274313 35274313 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 35274313 35274313 T C SNP ZNF770 ENST00000356321 human ensembl 74_37 -1 known silent c.1323 p.S441 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF770 HGNC ENSG00000198146 158 0 0 101 6 5.60748 CHAC1 0 genome.wustl.edu 37 15 41245679 41245679 + Silent SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 41245679 41245679 A T SNP CHAC1 ENST00000446533 human ensembl 74_37 +1 known silent c.24 p.L8 0.002 NULL pfam_ChaC - no_errors CHAC1 HGNC ENSG00000128965 9 0 0 6 4 40 RTF1 0 genome.wustl.edu 37 15 41762573 41762573 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 41762573 41762573 G A SNP RTF1 ENST00000389629 human ensembl 74_37 +1 known silent c.1008 p.S336 0.022 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC ENSG00000137815 563 1 0.177305 204 109 34.8243 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42138435 42138435 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 42138435 42138435 A G SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.2328 p.E776 0.057 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 262 0 0 99 6 5.71429 TUBGCP4 0 genome.wustl.edu 37 15 43678008 43678008 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 43678008 43678008 A G SNP TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known missense c.743 p.N248S 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 73 0 0 34 27 44.2623 MAP1A 0 genome.wustl.edu 37 15 43821953 43821953 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 43821953 43821953 G A SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.8141 p.R2714Q 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 169 0 0 65 35 35 PDIA3 0 genome.wustl.edu 37 15 44048950 44048950 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 44048950 44048950 G T SNP PDIA3 ENST00000300289 human ensembl 74_37 +1 known missense c.350 p.G117V 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 PDIA3 HGNC ENSG00000167004 188 0 0 74 51 40.8 ELL3 0 genome.wustl.edu 37 15 44066518 44066518 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 44066518 44066518 T C SNP ELL3 ENST00000319359 human ensembl 74_37 -1 known silent c.900 p.Q300 0.977 pfam_Occludin_RNApol2_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL3 HGNC ENSG00000128886 140 0 0 50 36 41.8605 MYEF2 0 genome.wustl.edu 37 15 48441449 48441449 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 48441449 48441449 C T SNP MYEF2 ENST00000324324 human ensembl 74_37 -1 known missense c.1498 p.D500N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 189 0 0 97 7 6.73077 SLC12A1 0 genome.wustl.edu 37 15 48533725 48533725 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 48533725 48533725 C A SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.1229 p.A410D 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 347 0 0 131 45 25.5682 SECISBP2L 0 genome.wustl.edu 37 15 49329874 49329874 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 49329874 49329874 A G SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known silent c.117 p.N39 0.742 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 81 0 0 44 13 22.807 COPS2 0 genome.wustl.edu 37 15 49421690 49421690 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 49421690 49421690 A G SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.1133 p.I378T 1.000 pfam_PCI_dom,smart_PCI_dom pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 20 0 0 5 2 28.5714 TRPM7 0 genome.wustl.edu 37 15 50884706 50884706 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 50884706 50884706 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known silent c.3726 p.T1242 0.941 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 255 0 0 117 61 34.2697 AP4E1 0 genome.wustl.edu 37 15 51242094 51242094 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 51242094 51242094 A G SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.1388 p.H463R 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP4_complex_esu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_bsu_C,superfamily_ARM-type_fold,pirsf_AP4_complex_esu - no_errors AP4E1 HGNC ENSG00000081014 154 0 0 74 27 26.7327 MYO5A 0 genome.wustl.edu 37 15 52643603 52643603 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 52643603 52643603 T C SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.3697 p.S1233G 0.120 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 288 0 0 93 37 28.4615 MYO5A 0 genome.wustl.edu 37 15 52688528 52688528 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 52688528 52688528 C T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known silent c.1386 p.Q462 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 23 0 0 8 3 27.2727 HERC1 0 genome.wustl.edu 37 15 64056318 64056318 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 64056318 64056318 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.1003 p.A335T 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 31 0 0 9 4 30.7692 DENND4A 0 genome.wustl.edu 37 15 65968867 65968867 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 65968867 65968867 A C SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.4282 p.S1428A 0.990 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 68 0 0 23 13 36.1111 THSD4 0 genome.wustl.edu 37 15 72040765 72040765 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 72040765 72040765 G T SNP THSD4 ENST00000261862 human ensembl 74_37 +1 known silent c.2247 p.S749 0.063 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors THSD4 HGNC ENSG00000187720 110 0 0 24 12 33.3333 STRA6 0 genome.wustl.edu 37 15 74472335 74472335 + RNA SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 74472335 74472335 C A SNP STRA6 ENST00000574439 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors STRA6 HGNC ENSG00000137868 62 0 0 15 10 40 CLK3 0 genome.wustl.edu 37 15 74914516 74914516 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 74914516 74914516 G A SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.869 p.G290D 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 89 0 0 49 5 9.25926 CYP1A2 0 genome.wustl.edu 37 15 75047347 75047347 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 75047347 75047347 A G SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known missense c.1469 p.D490G 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A2 HGNC ENSG00000140505 126 0 0 70 7 9.09091 COMMD4 0 genome.wustl.edu 37 15 75632127 75632127 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 75632127 75632127 A G SNP COMMD4 ENST00000267935 human ensembl 74_37 +1 known missense c.467 p.H156R 1.000 pfam_HCaRG pfam_HCaRG - no_errors COMMD4 HGNC ENSG00000140365 80 0 0 38 12 24 CRABP1 0 genome.wustl.edu 37 15 78633418 78633418 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 78633418 78633418 C T SNP CRABP1 ENST00000299529 human ensembl 74_37 +1 known missense c.104 p.A35V 0.999 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors CRABP1 HGNC ENSG00000166426 44 0 0 9 11 55 IREB2 0 genome.wustl.edu 37 15 78757619 78757619 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 78757619 78757619 C T SNP IREB2 ENST00000258886 human ensembl 74_37 +1 known missense c.299 p.A100V 1.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 - no_errors IREB2 HGNC ENSG00000136381 81 0 0 48 20 29.4118 CHRNA3 0 genome.wustl.edu 37 15 78909418 78909418 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 78909418 78909418 T C SNP CHRNA3 ENST00000326828 human ensembl 74_37 -1 known missense c.325 p.M109V 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 CHRNA3 HGNC ENSG00000080644 45 0 0 18 12 40 RASGRF1 0 genome.wustl.edu 37 15 79296391 79296391 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 79296391 79296391 T C SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known silent c.2250 p.S750 0.002 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 139 0 0 61 5 7.57576 ARNT2 0 genome.wustl.edu 37 15 80806735 80806735 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 80806735 80806735 G T SNP ARNT2 ENST00000303329 human ensembl 74_37 +1 known missense c.866 p.W289L 1.000 superfamily_PAS,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT2 HGNC ENSG00000172379 252 0 0 86 52 37.6812 KIAA1199 0 genome.wustl.edu 37 15 81235401 81235401 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 81235401 81235401 T C SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.3815 p.I1272T 0.855 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 642 0 0 282 74 20.7865 IL16 0 genome.wustl.edu 37 15 81598480 81598480 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 81598480 81598480 G A SNP IL16 ENST00000302987 human ensembl 74_37 +1 known missense c.3652 p.A1218T 0.017 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 215 1 0.462963 73 42 36.5217 MEX3B 0 genome.wustl.edu 37 15 82336953 82336953 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 82336953 82336953 A G SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known silent c.258 p.G86 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 70 0 0 25 15 37.5 EFTUD1 0 genome.wustl.edu 37 15 82444259 82444259 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 82444259 82444259 A G SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.2536 p.S846P 1.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 51 0 0 58 7 10.7692 ADAMTSL3 0 genome.wustl.edu 37 15 84442355 84442355 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 84442355 84442355 C A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.270 p.T90 0.998 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 90 0 0 21 13 38.2353 ADAMTSL3 0 genome.wustl.edu 37 15 84651224 84651224 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 84651224 84651224 G A SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known silent c.2844 p.K948 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 197 0 0 65 38 36.8932 ZNF592 0 genome.wustl.edu 37 15 85341570 85341570 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 85341570 85341570 A C SNP ZNF592 ENST00000299927 human ensembl 74_37 +1 known missense c.2601 p.E867D 0.990 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF592 HGNC ENSG00000166716 150 0 0 66 31 31.9588 RLBP1 0 genome.wustl.edu 37 15 89760476 89760476 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 89760476 89760476 G A SNP RLBP1 ENST00000268125 human ensembl 74_37 -1 known missense c.221 p.A74V 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran,pfscan_CRAL-TRIO_dom - no_errors RLBP1 HGNC ENSG00000140522 153 0 0 47 24 33.8028 GDPGP1 0 genome.wustl.edu 37 15 90785027 90785027 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 90785027 90785027 C T SNP GDPGP1 ENST00000329600 human ensembl 74_37 +1 known missense c.887 p.P296L 0.763 NULL NULL - no_errors GDPGP1 HGNC ENSG00000183208 148 0 0 66 32 32.6531 FURIN 0 genome.wustl.edu 37 15 91422045 91422045 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 91422045 91422045 C T SNP FURIN ENST00000268171 human ensembl 74_37 +1 known missense c.892 p.R298W 1.000 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC ENSG00000140564 115 0 0 23 5 17.8571 VPS33B 0 genome.wustl.edu 37 15 91542927 91542927 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 91542927 91542927 C T SNP VPS33B ENST00000333371 human ensembl 74_37 -1 known missense c.1754 p.R585Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS33B HGNC ENSG00000184056 447 0 0 159 96 37.6471 SLCO3A1 0 genome.wustl.edu 37 15 92669421 92669421 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 92669421 92669421 C T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known silent c.1305 p.Y435 0.968 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 159 0 0 64 27 29.6703 CIITA 0 genome.wustl.edu 37 16 11000482 11000482 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 11000482 11000482 T C SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.1133 p.L378P 0.545 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 55 0 0 31 7 18.4211 CACNA1H 0 genome.wustl.edu 37 16 1270432 1270432 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 1270432 1270432 A G SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.6500 p.E2167G 0.876 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 77 0 0 17 3 15 MPG 0 genome.wustl.edu 37 16 133169 133169 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 133169 133169 G A SNP MPG ENST00000219431 human ensembl 74_37 +1 known missense c.434 p.R145H 1.000 pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse pfam_PurDNA_glycsylse,superfamily_Formyl_transferase_C-like,tigrfam_PurDNA_glycsylse - no_errors MPG HGNC ENSG00000103152 385 0 0 127 63 33.1579 BAIAP3 0 genome.wustl.edu 37 16 1396000 1396000 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 1396000 1396000 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.2327 p.A776V 0.220 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 34 0 0 11 6 35.2941 ABCC1 0 genome.wustl.edu 37 16 16235124 16235124 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 16235124 16235124 G A SNP ABCC1 ENST00000399408 human ensembl 74_37 +1 known missense c.4612 p.A1538T 0.787 tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC1 HGNC ENSG00000103222 202 0 0 76 40 34.4828 IFT140 0 genome.wustl.edu 37 16 1630815 1630815 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 1630815 1630815 T C SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.1469 p.H490R 0.992 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 111 0 0 43 23 34.8485 TMC5 0 genome.wustl.edu 37 16 19452109 19452109 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 19452109 19452109 A G SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known missense c.749 p.H250R 0.000 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 133 0 0 75 45 37.5 PKD1 0 genome.wustl.edu 37 16 2144016 2144016 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 2144016 2144016 T C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known splice_site c.10619-2 e36-2 0.998 - - - no_errors PKD1 HGNC ENSG00000008710 22 0 0 4 6 60 PKD1 0 genome.wustl.edu 37 16 2160630 2160630 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 2160630 2160630 A C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.4538 p.V1513G 0.048 pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 84 0 0 46 4 8 CASKIN1 0 genome.wustl.edu 37 16 2233851 2233851 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 2233851 2233851 A G SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known missense c.1508 p.I503T 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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 CASKIN1 HGNC ENSG00000167971 137 0 0 37 11 22.9167 EARS2 0 genome.wustl.edu 37 16 23541078 23541078 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 23541078 23541078 A G SNP EARS2 ENST00000449606 human ensembl 74_37 -1 known missense c.1208 p.L403P 0.987 superfamily_aa-tRNA-synth_I_codon-bd,tigrfam_Glu-tRNA-ligase_bac/mito pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito - no_errors EARS2 HGNC ENSG00000103356 201 0 0 67 26 27.957 TNRC6A 0 genome.wustl.edu 37 16 24801521 24801521 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 24801521 24801521 A G SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.1558 p.T520A 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 184 0 0 96 43 30.9353 TNRC6A 0 genome.wustl.edu 37 16 24806029 24806029 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 24806029 24806029 A G SNP TNRC6A ENST00000395799 human ensembl 74_37 +1 known missense c.3517 p.M1173V 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6A HGNC ENSG00000090905 79 0 0 47 25 34.7222 GTF3C1 0 genome.wustl.edu 37 16 27476654 27476654 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 27476654 27476654 T G SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5282 p.E1761A 0.363 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 160 0 0 78 15 16.129 GTF3C1 0 genome.wustl.edu 37 16 27497449 27497449 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 27497449 27497449 T C SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3727 p.R1243G 0.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 414 0 0 145 72 33.1797 CCDC101 0 genome.wustl.edu 37 16 28596283 28596283 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 28596283 28596283 A G SNP CCDC101 ENST00000317058 human ensembl 74_37 +1 known missense c.125 p.H42R 1.000 NULL pfam_SGF29_tudor-like_dom - no_errors CCDC101 HGNC ENSG00000176476 126 0 0 48 4 7.69231 SULT1A2 0 genome.wustl.edu 37 16 28604641 28604641 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 28604641 28604641 C T SNP SULT1A2 ENST00000335715 human ensembl 74_37 -1 known missense c.526 p.V176M 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A2 HGNC ENSG00000197165 169 0 0 56 33 37.0787 ATXN2L 0 genome.wustl.edu 37 16 28845454 28845454 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 28845454 28845454 G T SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known silent c.2094 p.L698 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 151 0 0 57 28 32.9412 RABEP2 0 genome.wustl.edu 37 16 28931233 28931233 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 28931233 28931233 G A SNP RABEP2 ENST00000358201 human ensembl 74_37 -1 known silent c.306 p.T102 0.002 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 90 0 0 27 15 35.7143 NFATC2IP 0 genome.wustl.edu 37 16 28970321 28970321 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 28970321 28970321 T C SNP NFATC2IP ENST00000320805 human ensembl 74_37 +1 known missense c.1001 p.V334A 0.963 smart_Ubiquitin_dom pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors NFATC2IP HGNC ENSG00000176953 55 0 0 35 11 23.913 TAOK2 0 genome.wustl.edu 37 16 29989427 29989427 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 29989427 29989427 T C SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known silent c.150 p.N50 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 TAOK2 HGNC ENSG00000149930 121 0 0 81 7 7.95455 TAOK2 0 genome.wustl.edu 37 16 30002182 30002182 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 30002182 30002182 C T SNP TAOK2 ENST00000279394 human ensembl 74_37 +1 known silent c.2523 p.N841 0.938 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 218 0 0 50 27 35.0649 ZNF629 0 genome.wustl.edu 37 16 30793629 30793629 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 30793629 30793629 G A SNP ZNF629 ENST00000262525 human ensembl 74_37 -1 known missense c.2020 p.R674C 0.018 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF629 HGNC ENSG00000102870 29 0 0 11 6 35.2941 BCL7C 0 genome.wustl.edu 37 16 30899188 30899188 + Nonstop_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 30899188 30899188 A G SNP BCL7C ENST00000215115 human ensembl 74_37 -1 known nonstop c.652 p.*218R 1.000 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 490 0 0 118 77 39.4872 SETD1A 0 genome.wustl.edu 37 16 30992103 30992103 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 30992103 30992103 G A SNP SETD1A ENST00000262519 human ensembl 74_37 +1 known missense c.4625 p.R1542Q 1.000 pfam_COMPASS_Set1_N-SET 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 78 0 0 40 20 33.3333 OR1F1 0 genome.wustl.edu 37 16 3254280 3254280 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 3254280 3254280 T C SNP OR1F1 ENST00000304646 human ensembl 74_37 +1 known missense c.34 p.F12L 0.999 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1F1 HGNC ENSG00000168124 74 0 0 32 11 25.5814 ARHGDIG 0 genome.wustl.edu 37 16 332697 332697 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 332697 332697 G A SNP ARHGDIG ENST00000219409 human ensembl 74_37 +1 known silent c.561 p.P187 0.000 pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI pfam_Rho_GDI,superfamily_Ig_E-set,prints_Rho_GDI - no_errors ARHGDIG HGNC ENSG00000242173 33 0 0 11 3 21.4286 TRAP1 0 genome.wustl.edu 37 16 3739122 3739122 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 3739122 3739122 A G SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known silent c.264 p.H88 0.661 superfamily_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N - no_errors TRAP1 HGNC ENSG00000126602 96 0 0 44 18 29.0323 CREBBP 0 genome.wustl.edu 37 16 3781199 3781199 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 3781199 3781199 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known silent c.5166 p.V1722 0.998 pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 175 0 0 43 19 30.6452 ADCY9 0 genome.wustl.edu 37 16 4165236 4165236 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 4165236 4165236 C T SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known missense c.208 p.G70R 0.541 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 56 0 0 8 15 65.2174 CORO7-PAM16 0 genome.wustl.edu 37 16 4415045 4415045 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 4415045 4415045 T C SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.857 p.Y286C 0.979 pfam_DUF1900 pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 26 0 0 11 4 26.6667 NMRAL1 0 genome.wustl.edu 37 16 4516244 4516244 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 4516244 4516244 T C SNP NMRAL1 ENST00000283429 human ensembl 74_37 -1 known missense c.439 p.M147V 1.000 pfam_NmrA pfam_NmrA,pfam_DH_sc/Rdtase_SDR,pfam_RCK_N - no_errors NMRAL1 HGNC ENSG00000153406 88 0 0 30 17 36.1702 C16orf71 0 genome.wustl.edu 37 16 4794910 4794910 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 4794910 4794910 A G SNP C16orf71 ENST00000299320 human ensembl 74_37 +1 known missense c.941 p.Q314R 0.004 NULL NULL - no_errors C16orf71 HGNC ENSG00000166246 111 0 0 35 18 33.9623 PPL 0 genome.wustl.edu 37 16 4934705 4934705 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 4934705 4934705 C A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.3951 p.E1317D 0.985 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 400 0 0 165 115 41.0714 CCDC135 0 genome.wustl.edu 37 16 57732056 57732056 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 57732056 57732056 G A SNP CCDC135 ENST00000360716 human ensembl 74_37 +1 known silent c.195 p.A65 0.000 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 94 0 0 35 5 12.5 KIFC3 0 genome.wustl.edu 37 16 57829017 57829017 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 57829017 57829017 T C SNP KIFC3 ENST00000379655 human ensembl 74_37 -1 known missense c.209 p.D70G 0.999 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 80 0 0 30 4 11.7647 USB1 0 genome.wustl.edu 37 16 58043956 58043956 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 58043956 58043956 G A SNP USB1 ENST00000219281 human ensembl 74_37 +1 known missense c.389 p.R130H 1.000 pfam_Usb1 pfam_Usb1 - no_errors USB1 HGNC ENSG00000103005 135 0 0 56 42 42.8571 CNOT1 0 genome.wustl.edu 37 16 58585059 58585059 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 58585059 58585059 A C SNP CNOT1 ENST00000317147 human ensembl 74_37 -1 known missense c.3319 p.S1107A 1.000 superfamily_ARM-type_fold pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 200 0 0 78 42 35 LINC00922 0 genome.wustl.edu 37 16 65345452 65345452 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 65345452 65345452 T C SNP LINC00922 ENST00000564041 human ensembl 74_37 -1 known splice_site c.NULL NULL 0.004 - - - no_errors LINC00922 HGNC ENSG00000261742 420 1 0.23753 132 47 26.257 RRAD 0 genome.wustl.edu 37 16 66956070 66956070 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 66956070 66956070 T C SNP RRAD ENST00000299759 human ensembl 74_37 -1 known missense c.836 p.K279R 1.000 superfamily_P-loop_NTPase,pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 103 0 0 28 14 33.3333 ENKD1 0 genome.wustl.edu 37 16 67697207 67697207 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 67697207 67697207 G A SNP ENKD1 ENST00000243878 human ensembl 74_37 -1 known missense c.898 p.R300C 0.880 NULL NULL - no_errors ENKD1 HGNC ENSG00000124074 180 0 0 79 29 26.8519 GFOD2 0 genome.wustl.edu 37 16 67709180 67709180 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 67709180 67709180 T C SNP GFOD2 ENST00000268797 human ensembl 74_37 -1 known missense c.1036 p.S346G 1.000 NULL pfam_Oxidoreductase_N - no_errors GFOD2 HGNC ENSG00000141098 275 0 0 105 17 13.9344 EDC4 0 genome.wustl.edu 37 16 67915891 67915891 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 67915891 67915891 G A SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known silent c.3039 p.Q1013 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 32 0 0 34 5 12.8205 COG8 0 genome.wustl.edu 37 16 69368633 69368633 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 69368633 69368633 C T SNP COG8 ENST00000306875 human ensembl 74_37 -1 known missense c.1204 p.A402T 0.786 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 118 0 0 48 26 35.1351 AARS 0 genome.wustl.edu 37 16 70291987 70291987 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 70291987 70291987 T C SNP AARS ENST00000261772 human ensembl 74_37 -1 known missense c.2126 p.D709G 1.000 pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 51 0 0 25 7 21.875 COG4 0 genome.wustl.edu 37 16 70548291 70548291 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 70548291 70548291 C T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.491 p.R164H 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 53 0 0 31 16 34.0426 MTSS1L 0 genome.wustl.edu 37 16 70698190 70698190 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 70698190 70698190 G A SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.1634 p.A545V 0.878 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 53 0 0 7 6 46.1538 HYDIN 0 genome.wustl.edu 37 16 70902576 70902576 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 70902576 70902576 T C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11207 p.Q3736R 0.995 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 79 0 0 36 15 29.4118 CFDP1 0 genome.wustl.edu 37 16 75446576 75446576 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 75446576 75446576 T C SNP CFDP1 ENST00000283882 human ensembl 74_37 -1 known missense c.259 p.S87G 0.989 NULL pfam_BCNT-C - no_errors CFDP1 HGNC ENSG00000153774 326 0 0 169 69 28.9916 CHST6 0 genome.wustl.edu 37 16 75513137 75513137 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 75513137 75513137 A G SNP CHST6 ENST00000332272 human ensembl 74_37 -1 known missense c.590 p.I197T 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST6 HGNC ENSG00000183196 96 0 0 43 11 20.3704 CHST5 0 genome.wustl.edu 37 16 75563650 75563650 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 75563650 75563650 G A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.651 p.S217 0.034 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 238 0 0 154 38 19.7917 CHST5 0 genome.wustl.edu 37 16 75564048 75564048 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 75564048 75564048 C A SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known missense c.253 p.G85C 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 117 0 0 49 11 18.3333 MON1B 0 genome.wustl.edu 37 16 77227598 77227598 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 77227598 77227598 G A SNP MON1B ENST00000248248 human ensembl 74_37 +1 known silent c.399 p.S133 0.187 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1 - no_errors MON1B HGNC ENSG00000103111 112 0 0 40 19 32.2034 ENSG00000259867 0 genome.wustl.edu 37 16 80574846 80574846 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 80574846 80574846 C T SNP ENSG00000259867 ENST00000563267 human ensembl 74_37 -1 known rna NULL NULL 0.832 - - - no_errors RP11-525K10.3 Clone_based_vega_gene ENSG00000259867 10 0 0 3 2 40 GAN 0 genome.wustl.edu 37 16 81388112 81388112 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 81388112 81388112 A G SNP GAN ENST00000568107 human ensembl 74_37 +1 known missense c.385 p.I129V 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 245 0 0 114 63 35.5932 MPHOSPH6 0 genome.wustl.edu 37 16 82182417 82182417 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 82182417 82182417 G A SNP MPHOSPH6 ENST00000258169 human ensembl 74_37 -1 known silent c.402 p.D134 0.998 NULL pfam_MPP6 - no_errors MPHOSPH6 HGNC ENSG00000135698 203 0 0 100 44 30.5556 MBTPS1 0 genome.wustl.edu 37 16 84125452 84125452 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 84125452 84125452 A G SNP MBTPS1 ENST00000343411 human ensembl 74_37 -1 known missense c.848 p.V283A 0.999 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors MBTPS1 HGNC ENSG00000140943 99 0 0 54 19 26.0274 ADAD2 0 genome.wustl.edu 37 16 84224937 84224937 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 84224937 84224937 C T SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known missense c.101 p.P34L 0.103 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 36 0 0 18 8 30.7692 KLHL36 0 genome.wustl.edu 37 16 84695477 84695477 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 84695477 84695477 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.1589 p.A530V 0.999 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL36 HGNC ENSG00000135686 46 0 0 26 13 33.3333 FOXF1 0 genome.wustl.edu 37 16 86544482 86544482 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 86544482 86544482 A G SNP FOXF1 ENST00000262426 human ensembl 74_37 +1 known missense c.307 p.N103D 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXF1 HGNC ENSG00000103241 277 0 0 79 58 42.3358 KLHDC4 0 genome.wustl.edu 37 16 87744970 87744970 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 87744970 87744970 C T SNP KLHDC4 ENST00000270583 human ensembl 74_37 -1 known silent c.915 p.P305 0.004 pfam_Kelch_2 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC4 HGNC ENSG00000104731 117 0 0 45 17 27.4194 CTU2 0 genome.wustl.edu 37 16 88779164 88779164 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 88779164 88779164 G A SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known silent c.801 p.P267 0.000 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 60 0 0 22 8 26.6667 ACSF3 0 genome.wustl.edu 37 16 89169058 89169058 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 89169058 89169058 T C SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known missense c.713 p.I238T 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 131 0 0 26 16 38.0952 ZNF778 0 genome.wustl.edu 37 16 89293297 89293297 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 89293297 89293297 G A SNP ZNF778 ENST00000433976 human ensembl 74_37 +1 known missense c.517 p.G173S 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 ZNF778 HGNC ENSG00000170100 201 0 0 73 38 34.2342 SPG7 0 genome.wustl.edu 37 16 89590439 89590439 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 89590439 89590439 C T SNP SPG7 ENST00000268704 human ensembl 74_37 +1 known silent c.402 p.D134 0.990 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 81 0 0 37 16 30.1887 CDK10 0 genome.wustl.edu 37 16 89758245 89758245 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 89758245 89758245 G A SNP CDK10 ENST00000353379 human ensembl 74_37 +1 known missense c.367 p.D123N 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 CDK10 HGNC ENSG00000185324 107 0 0 41 26 38.806 FANCA 0 genome.wustl.edu 37 16 89871719 89871719 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 89871719 89871719 C A SNP FANCA ENST00000389301 human ensembl 74_37 -1 known missense c.678 p.Q226H 0.000 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 82 0 0 20 10 33.3333 MYH2 0 genome.wustl.edu 37 17 10426662 10426662 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 10426662 10426662 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.5540 p.R1847H 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 188 0 0 83 31 27.193 MYH3 0 genome.wustl.edu 37 17 10535191 10535191 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 10535191 10535191 C T SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known missense c.5099 p.R1700Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 149 0 0 56 12 17.6471 INPP5K 0 genome.wustl.edu 37 17 1401243 1401243 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 1401243 1401243 G A SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.950 p.T317M 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 296 0 0 122 43 26.0606 INPP5K 0 genome.wustl.edu 37 17 1417245 1417245 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 1417245 1417245 A G SNP INPP5K ENST00000421807 human ensembl 74_37 -1 known missense c.73 p.S25P 0.983 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5K HGNC ENSG00000132376 91 0 0 35 16 31.3725 ENSG00000205325 0 genome.wustl.edu 37 17 14683361 14683361 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 14683361 14683361 A G SNP ENSG00000205325 ENST00000379640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005863.1 Clone_based_vega_gene ENSG00000205325 131 0 0 59 17 22.3684 TVP23C 0 genome.wustl.edu 37 17 15441469 15441469 + Splice_Site SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 122 1 0.813008 90 30 25 101928503 0 genome.wustl.edu 37 17 15469094 15469094 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 15469094 15469094 C T SNP 101928503 ENST00000312127 human ensembl 74_37 -1 known missense c.485 p.R162H 0.000 NULL NULL - no_errors CDRT1 Uniprot_gn ENSG00000181464 151 0 0 87 24 21.6216 CENPV 0 genome.wustl.edu 37 17 16252027 16252027 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 16252027 16252027 T C SNP CENPV ENST00000476243 human ensembl 74_37 -1 known missense c.20 p.N7S 0.000 superfamily_Mss4-like pfam_GFA/CENP-V,superfamily_Mss4-like - no_errors CENPV HGNC ENSG00000166582 77 0 0 42 17 28.8136 SMYD4 0 genome.wustl.edu 37 17 1690197 1690197 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 1690197 1690197 G A SNP SMYD4 ENST00000305513 human ensembl 74_37 -1 known silent c.1791 p.C597 0.940 NULL pfam_SET_dom,pfam_Znf_MYND,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD4 HGNC ENSG00000186532 70 0 0 31 18 36.7347 RAI1 0 genome.wustl.edu 37 17 17700156 17700156 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 17700156 17700156 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.3894 p.P1298 0.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 258 0 0 75 45 37.5 SREBF1 0 genome.wustl.edu 37 17 17720439 17720439 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 17720439 17720439 A G SNP SREBF1 ENST00000355815 human ensembl 74_37 -1 known missense c.1708 p.W570R 0.999 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF1 HGNC ENSG00000072310 97 0 0 36 11 23.4043 DRG2 0 genome.wustl.edu 37 17 17997175 17997175 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 17997175 17997175 G T SNP DRG2 ENST00000225729 human ensembl 74_37 +1 known missense c.113 p.R38L 1.000 NULL pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG2 HGNC ENSG00000108591 123 0 0 35 21 37.5 MYO15A 0 genome.wustl.edu 37 17 18071031 18071031 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 18071031 18071031 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.10076 p.P3359L 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 73 0 0 26 13 33.3333 USP32P2 0 genome.wustl.edu 37 17 18423000 18423000 + RNA SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 18423000 18423000 G T SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 0.707 - - - no_errors USP32P2 HGNC ENSG00000233327 17 0 0 17 6 26.087 FAM83G 0 genome.wustl.edu 37 17 18874698 18874698 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 18874698 18874698 C A SNP FAM83G ENST00000345041 human ensembl 74_37 -1 known missense c.2446 p.A816S 0.162 NULL pfam_DUF1669 - no_errors FAM83G HGNC ENSG00000188522 150 0 0 53 22 29.3333 SLC5A10 0 genome.wustl.edu 37 17 18918512 18918512 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 18918512 18918512 G A SNP SLC5A10 ENST00000395647 human ensembl 74_37 +1 known missense c.1289 p.R430Q 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A10 HGNC ENSG00000154025 37 0 0 7 12 63.1579 SLC47A2 0 genome.wustl.edu 37 17 19618513 19618513 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 19618513 19618513 C T SNP SLC47A2 ENST00000325411 human ensembl 74_37 -1 known silent c.141 p.L47 0.337 pfam_MATE pfam_MATE,tigrfam_MATE - no_errors SLC47A2 HGNC ENSG00000180638 107 0 0 41 4 8.88889 LGALS9B 0 genome.wustl.edu 37 17 20354887 20354887 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 20354887 20354887 A G SNP LGALS9B ENST00000423676 human ensembl 74_37 -1 known silent c.831 p.A277 0.016 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9B HGNC ENSG00000170298 115 0 0 40 22 35.4839 MAP2K3 0 genome.wustl.edu 37 17 21215533 21215533 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 21215533 21215533 C T SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known missense c.854 p.P285L 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 MAP2K3 HGNC ENSG00000034152 80 0 0 30 8 21.0526 SRR 0 genome.wustl.edu 37 17 2226566 2226566 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 2226566 2226566 T C SNP SRR ENST00000344595 human ensembl 74_37 +1 known missense c.731 p.I244T 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SRR HGNC ENSG00000167720 222 0 0 82 41 33.3333 PAFAH1B1 0 genome.wustl.edu 37 17 2570398 2570398 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 2570398 2570398 A G SNP PAFAH1B1 ENST00000397195 human ensembl 74_37 +1 known missense c.305 p.Y102C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1 pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator_LIS1,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PAFAH1B1 HGNC ENSG00000007168 122 0 0 52 15 22.3881 NLK 0 genome.wustl.edu 37 17 26518101 26518101 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 26518101 26518101 C T SNP NLK ENST00000407008 human ensembl 74_37 +1 known nonsense c.1291 p.R431* 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 123 0 0 51 21 29.1667 SUPT6H 0 genome.wustl.edu 37 17 27009838 27009838 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 27009838 27009838 C T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1691 p.A564V 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 97 0 0 38 23 37.7049 SSH2 0 genome.wustl.edu 37 17 27957929 27957929 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 27957929 27957929 T C SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known missense c.4202 p.H1401R 1.000 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 281 0 0 113 57 33.5294 ATAD5 0 genome.wustl.edu 37 17 29221133 29221133 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 29221133 29221133 T C SNP ATAD5 ENST00000321990 human ensembl 74_37 +1 known silent c.5262 p.N1754 0.002 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD5 HGNC ENSG00000176208 59 0 0 38 8 17.3913 SHPK 0 genome.wustl.edu 37 17 3518749 3518749 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 3518749 3518749 G T SNP SHPK ENST00000225519 human ensembl 74_37 -1 known silent c.906 p.A302 0.939 NULL pfam_Carb_kinase_FGGY_N - no_errors SHPK HGNC ENSG00000197417 109 0 0 37 14 27.451 AATF 0 genome.wustl.edu 37 17 35348137 35348137 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 35348137 35348137 A T SNP AATF ENST00000225402 human ensembl 74_37 +1 known missense c.1379 p.D460V 1.000 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 147 0 0 77 31 28.7037 GPR179 0 genome.wustl.edu 37 17 36483237 36483237 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 36483237 36483237 T C SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.6215 p.E2072G 0.264 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 195 0 0 90 40 30.7692 NEUROD2 0 genome.wustl.edu 37 17 37762190 37762190 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 37762190 37762190 G T SNP NEUROD2 ENST00000302584 human ensembl 74_37 -1 known silent c.663 p.A221 0.580 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD2 HGNC ENSG00000171532 48 0 0 16 9 36 GSDMA 0 genome.wustl.edu 37 17 38131187 38131187 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 38131187 38131187 C A SNP GSDMA ENST00000301659 human ensembl 74_37 +1 known missense c.941 p.T314N 0.996 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 44 0 0 11 3 21.4286 NR1D1 0 genome.wustl.edu 37 17 38251794 38251794 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 38251794 38251794 T C SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known missense c.1151 p.N384S 0.999 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D1 HGNC ENSG00000126368 147 0 0 42 21 33.3333 NR1D1 0 genome.wustl.edu 37 17 38252042 38252042 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 38252042 38252042 G T SNP NR1D1 ENST00000246672 human ensembl 74_37 -1 known silent c.903 p.T301 1.000 NULL 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 NR1D1 HGNC ENSG00000126368 66 0 0 23 13 36.1111 CASC3 0 genome.wustl.edu 37 17 38320386 38320386 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 38320386 38320386 C T SNP CASC3 ENST00000264645 human ensembl 74_37 +1 known nonsense c.1438 p.Q480* 1.000 NULL pfam_Btz_dom - no_errors CASC3 HGNC ENSG00000108349 62 0 0 22 9 29.0323 RARA 0 genome.wustl.edu 37 17 38499007 38499007 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 38499007 38499007 G T SNP RARA ENST00000394081 human ensembl 74_37 +1 known silent c.51 p.V17 1.000 NULL 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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARA HGNC ENSG00000131759 255 0 0 92 62 40.2597 TNS4 0 genome.wustl.edu 37 17 38634836 38634836 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 38634836 38634836 G A SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.1975 p.R659W 0.941 pfam_PTB,smart_PTB/PI_dom pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 176 0 0 34 27 44.2623 KRT23 0 genome.wustl.edu 37 17 39092635 39092635 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 39092635 39092635 G A SNP KRT23 ENST00000209718 human ensembl 74_37 -1 known missense c.221 p.A74V 0.369 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 236 0 0 91 26 22.2222 KRTAP1-5 0 genome.wustl.edu 37 17 39183218 39183218 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 39183218 39183218 T G SNP KRTAP1-5 ENST00000361883 human ensembl 74_37 -1 known missense c.190 p.S64R 0.344 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-5 HGNC ENSG00000221852 129 0 0 47 20 29.8507 KRT17 0 genome.wustl.edu 37 17 39780474 39780474 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 39780474 39780474 G T SNP KRT17 ENST00000311208 human ensembl 74_37 -1 known silent c.288 p.A96 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT17 HGNC ENSG00000128422 336 0 0 115 50 30.303 LEPREL4 0 genome.wustl.edu 37 17 39967232 39967232 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 39967232 39967232 T C SNP LEPREL4 ENST00000355468 human ensembl 74_37 -1 known missense c.670 p.T224A 0.965 NULL NULL - no_errors LEPREL4 HGNC ENSG00000141696 50 0 0 28 15 34.8837 ACLY 0 genome.wustl.edu 37 17 40039404 40039404 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 40039404 40039404 C T SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.2236 p.G746R 1.000 pfam_CoA_ligase,superfamily_Citrate_synthase-like_core,pirsf_ATP-citrate_synthase pfam_Citrate_synthase-like,pfam_CoA_ligase,pfam_CoA-bd,pfam_ATP-grasp_succ-CoA_synth-type,superfamily_Citrate_synthase-like_core,superfamily_Succinyl-CoA_synth-like,smart_CoA-bd,pirsf_ATP-citrate_synthase - no_errors ACLY HGNC ENSG00000131473 130 0 0 53 21 28.3784 ANKFY1 0 genome.wustl.edu 37 17 4077240 4077240 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 4077240 4077240 C T SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.3013 p.V1005M 0.997 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 200 0 0 79 36 31.3043 EZH1 0 genome.wustl.edu 37 17 40879701 40879701 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 40879701 40879701 T C SNP EZH1 ENST00000435174 human ensembl 74_37 -1 known missense c.22 p.T8A 1.000 NULL pfam_SET_dom,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH1 HGNC ENSG00000108799 149 0 0 55 22 28.5714 VAT1 0 genome.wustl.edu 37 17 41168515 41168515 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 41168515 41168515 G A SNP VAT1 ENST00000355653 human ensembl 74_37 -1 known missense c.907 p.R303W 0.988 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1 HGNC ENSG00000108828 64 0 0 30 12 28.5714 MAP3K14 0 genome.wustl.edu 37 17 43348437 43348437 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 43348437 43348437 C T SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.157 - - - no_errors MAP3K14 HGNC ENSG00000006062 41 0 0 15 7 31.8182 ARHGAP27 0 genome.wustl.edu 37 17 43474075 43474075 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 43474075 43474075 C A SNP ARHGAP27 ENST00000428638 human ensembl 74_37 -1 known missense c.2033 p.R678L 0.997 NULL pfam_RhoGAP_dom,pfam_WW_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP27 HGNC ENSG00000159314 72 0 0 23 17 42.5 SPPL2C 0 genome.wustl.edu 37 17 43922517 43922517 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 43922517 43922517 G A SNP SPPL2C ENST00000329196 human ensembl 74_37 +1 known missense c.245 p.R82H 0.005 NULL pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Preselin/SPP - no_errors SPPL2C HGNC ENSG00000185294 67 0 0 24 19 44.186 HOXB3 0 genome.wustl.edu 37 17 46628218 46628218 + Silent SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 46628218 46628218 G C SNP HOXB3 ENST00000311626 human ensembl 74_37 -1 known silent c.774 p.G258 0.986 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 231 0 0 98 18 15.5172 HOXB4 0 genome.wustl.edu 37 17 46655263 46655263 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 46655263 46655263 A G SNP HOXB4 ENST00000332503 human ensembl 74_37 -1 known missense c.419 p.V140A 1.000 prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB4 HGNC ENSG00000182742 96 0 0 21 9 30 VMO1 0 genome.wustl.edu 37 17 4689578 4689578 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 4689578 4689578 C T SNP VMO1 ENST00000328739 human ensembl 74_37 -1 known missense c.70 p.A24T 0.001 NULL pfam_VOMI,superfamily_VOMI - no_errors VMO1 HGNC ENSG00000182853 45 0 0 15 4 21.0526 CHRNE 0 genome.wustl.edu 37 17 4804134 4804134 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 4804134 4804134 C T SNP CHRNE ENST00000293780 human ensembl 74_37 -1 known missense c.871 p.A291T 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNE HGNC ENSG00000108556 57 0 0 22 10 31.25 COL1A1 0 genome.wustl.edu 37 17 48263173 48263173 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 48263173 48263173 C T SNP COL1A1 ENST00000225964 human ensembl 74_37 -1 known missense c.4214 p.R1405H 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 82 0 0 32 12 27.2727 ENO3 0 genome.wustl.edu 37 17 4860186 4860186 + Splice_Site SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 4860186 4860186 T A SNP ENO3 ENST00000323997 human ensembl 74_37 +1 known splice_site c.1235+2 e10+2 1.000 - - - no_errors ENO3 HGNC ENSG00000108515 356 0 0 120 48 28.5714 RABEP1 0 genome.wustl.edu 37 17 5238641 5238641 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 5238641 5238641 T C SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known splice_site c.528+2 e4+2 1.000 - - - no_errors RABEP1 HGNC ENSG00000029725 38 0 0 19 10 34.4828 VPS53 0 genome.wustl.edu 37 17 534828 534828 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 534828 534828 C A SNP VPS53 ENST00000437048 human ensembl 74_37 -1 known missense c.649 p.A217S 1.000 pfam_Vps53_N pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54 - no_errors VPS53 HGNC ENSG00000141252 123 0 0 38 9 19.1489 DGKE 0 genome.wustl.edu 37 17 54925289 54925289 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 54925289 54925289 G T SNP DGKE ENST00000284061 human ensembl 74_37 +1 known missense c.751 p.D251Y 1.000 pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 89 0 0 36 18 33.3333 SCPEP1 0 genome.wustl.edu 37 17 55075765 55075765 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 55075765 55075765 C T SNP SCPEP1 ENST00000262288 human ensembl 74_37 +1 known silent c.900 p.H300 0.915 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 123 0 0 43 27 38.5714 SUPT4H1 0 genome.wustl.edu 37 17 56423650 56423650 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 56423650 56423650 C T SNP SUPT4H1 ENST00000225504 human ensembl 74_37 -1 known missense c.311 p.R104Q 1.000 pirsf_Spt4 pfam_Spt4/RpoE2_Znf,pirsf_Spt4 - no_errors SUPT4H1 HGNC ENSG00000213246 146 1 0.680272 71 39 35.4545 TLK2 0 genome.wustl.edu 37 17 60685462 60685462 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 60685462 60685462 A G SNP TLK2 ENST00000326270 human ensembl 74_37 +1 known missense c.2098 p.T700A 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 TLK2 HGNC ENSG00000146872 78 0 0 41 9 18 MARCH10 0 genome.wustl.edu 37 17 60837243 60837243 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 60837243 60837243 A G SNP MARCH10 ENST00000311269 human ensembl 74_37 -1 known missense c.335 p.M112T 0.969 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 139 0 0 73 38 34.2342 TANC2 0 genome.wustl.edu 37 17 61498806 61498806 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 61498806 61498806 C T SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known silent c.5463 p.D1821 0.006 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 85 0 0 32 17 34.6939 MAP3K3 0 genome.wustl.edu 37 17 61759260 61759260 + Splice_Site SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 61759260 61759260 G A SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known splice_site c.729+1 e8+1 1.000 - - - no_errors MAP3K3 HGNC ENSG00000198909 188 0 0 53 27 33.75 PLEKHM1P 0 genome.wustl.edu 37 17 62796801 62796801 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 62796801 62796801 A G SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PLEKHM1P HGNC ENSG00000214176 74 0 0 23 11 32.3529 LRRC37A3 0 genome.wustl.edu 37 17 62893280 62893280 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 62893280 62893280 T C SNP LRRC37A3 ENST00000319651 human ensembl 74_37 -1 known silent c.96 p.L32 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 319 0 0 180 16 8.16327 PITPNM3 0 genome.wustl.edu 37 17 6377844 6377844 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 6377844 6377844 C T SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known missense c.1166 p.R389H 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 44 0 0 8 5 38.4615 CACNG4 0 genome.wustl.edu 37 17 65014359 65014359 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 65014359 65014359 A G SNP CACNG4 ENST00000262138 human ensembl 74_37 +1 known missense c.275 p.Y92C 0.997 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g4su,prints_VDCC_gsu,prints_Claudin - no_errors CACNG4 HGNC ENSG00000075461 88 0 0 34 10 22.7273 ABCA9 0 genome.wustl.edu 37 17 66981199 66981199 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 66981199 66981199 G T SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known silent c.4279 p.R1427 0.991 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 134 0 0 52 11 17.4603 ABCA9 0 genome.wustl.edu 37 17 66981227 66981227 + Silent SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 66981227 66981227 G C SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known silent c.4251 p.P1417 0.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 135 0 0 54 16 22.8571 ABCA9 0 genome.wustl.edu 37 17 66981232 66981232 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 66981232 66981232 C A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known missense c.4246 p.A1416S 0.054 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 133 0 0 50 16 24.2424 NEURL4 0 genome.wustl.edu 37 17 7229602 7229602 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 7229602 7229602 T C SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.1265 p.Y422C 1.000 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 58 0 0 16 12 42.8571 GRIN2C 0 genome.wustl.edu 37 17 72851126 72851126 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 72851126 72851126 A T SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.106 p.F36I 1.000 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2C HGNC ENSG00000161509 50 0 0 24 7 22.5806 USH1G 0 genome.wustl.edu 37 17 72916353 72916353 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 72916353 72916353 A C SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.578 p.L193R 0.997 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 106 1 0.934579 29 16 35.5556 ICT1 0 genome.wustl.edu 37 17 73008915 73008915 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 73008915 73008915 T C SNP ICT1 ENST00000301585 human ensembl 74_37 +1 known missense c.134 p.L45P 1.000 NULL pfam_Pep_chain_release_fac_I_II - no_errors ICT1 HGNC ENSG00000167862 50 0 0 19 9 32.1429 KCTD2 0 genome.wustl.edu 37 17 73043606 73043606 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 73043606 73043606 A C SNP KCTD2 ENST00000322444 human ensembl 74_37 +1 known missense c.261 p.R87S 0.998 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD2 HGNC ENSG00000180901 54 0 0 16 4 20 KIAA0195 0 genome.wustl.edu 37 17 73485723 73485723 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 73485723 73485723 T C SNP KIAA0195 ENST00000314256 human ensembl 74_37 +1 known missense c.934 p.Y312H 1.000 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 112 0 0 44 20 31.25 CASKIN2 0 genome.wustl.edu 37 17 73504338 73504338 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 73504338 73504338 G A SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known silent c.123 p.N41 0.972 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom 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 54 0 0 20 4 16.6667 ITGB4 0 genome.wustl.edu 37 17 73750744 73750744 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 73750744 73750744 A T SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.4406 p.Y1469F 0.997 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 104 0 0 50 4 7.40741 UNC13D 0 genome.wustl.edu 37 17 73836398 73836398 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 73836398 73836398 G T SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known silent c.766 p.R256 0.928 superfamily_C2_dom,smart_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 58 0 0 26 17 39.5349 ST6GALNAC1 0 genome.wustl.edu 37 17 74622396 74622396 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 74622396 74622396 T G SNP ST6GALNAC1 ENST00000156626 human ensembl 74_37 -1 known missense c.1390 p.M464L 0.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC1 HGNC ENSG00000070526 85 0 0 40 15 27.2727 ENGASE 0 genome.wustl.edu 37 17 77080692 77080692 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 77080692 77080692 G A SNP ENGASE ENST00000579016 human ensembl 74_37 +1 known silent c.1515 p.T505 0.001 NULL pfam_Glyco_hydro_85,pfscan_BRCT_dom - no_errors ENGASE HGNC ENSG00000167280 314 0 0 99 53 34.8684 CCDC40 0 genome.wustl.edu 37 17 78013751 78013751 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 78013751 78013751 A G SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known silent c.234 p.E78 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 114 0 0 28 19 40.4255 RNF213 0 genome.wustl.edu 37 17 78319491 78319491 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 78319491 78319491 C T SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.7356 p.H2452 0.523 superfamily_P-loop_NTPase,smart_AAA+_ATPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 172 0 0 76 51 40.1575 ALOX12B 0 genome.wustl.edu 37 17 7978948 7978948 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 7978948 7978948 A G SNP ALOX12B ENST00000319144 human ensembl 74_37 -1 known missense c.1619 p.I540T 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C,prints_LipOase_mml - no_errors ALOX12B HGNC ENSG00000179477 379 0 0 182 12 6.18557 SIRT7 0 genome.wustl.edu 37 17 79870360 79870360 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 79870360 79870360 C T SNP SIRT7 ENST00000328666 human ensembl 74_37 -1 known missense c.1135 p.A379T 0.080 NULL pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT7 HGNC ENSG00000187531 223 0 0 93 51 35.4167 ENSG00000264769 0 genome.wustl.edu 37 17 79880973 79880973 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 79880973 79880973 G A SNP ENSG00000264769 ENST00000580897 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-498C9.12 Clone_based_vega_gene ENSG00000264769 33 0 0 13 7 35 GPS1 0 genome.wustl.edu 37 17 80014641 80014641 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 80014641 80014641 A G SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.1373 p.K458R 1.000 pfam_PCI_dom,smart_PCI_dom pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 37 0 0 13 4 23.5294 FASN 0 genome.wustl.edu 37 17 80049317 80049317 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 80049317 80049317 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.1273 p.R425W 1.000 NULL pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 33 0 0 5 4 44.4444 NARF 0 genome.wustl.edu 37 17 80417964 80417964 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 80417964 80417964 A G SNP NARF ENST00000580748 human ensembl 74_37 +1 known missense c.124 p.S42G 0.000 NULL NULL - no_errors NARF HGNC ENSG00000141562 101 0 0 45 12 21.0526 PIK3R5 0 genome.wustl.edu 37 17 8791599 8791599 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 8791599 8791599 C T SNP PIK3R5 ENST00000447110 human ensembl 74_37 -1 known missense c.1505 p.R502H 1.000 pfam_PI3K_1B_gamma_p101_su pfam_PI3K_1B_gamma_p101_su - no_errors PIK3R5 HGNC ENSG00000141506 144 0 0 43 18 29.5082 MPPE1 0 genome.wustl.edu 37 18 11885892 11885892 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 11885892 11885892 C T SNP MPPE1 ENST00000592306 human ensembl 74_37 -1 known missense c.227 p.R76Q 0.001 NULL NULL - no_errors MPPE1 HGNC ENSG00000154889 8 0 0 13 3 18.75 DSG1 0 genome.wustl.edu 37 18 28914077 28914077 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 28914077 28914077 T C SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.917 p.V306A 0.679 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 155 0 0 88 48 35.2941 MYOM1 0 genome.wustl.edu 37 18 3084001 3084001 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 3084001 3084001 A G SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.4364 p.V1455A 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 9 0 0 6 5 45.4545 MYL12A 0 genome.wustl.edu 37 18 3253948 3253948 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 3253948 3253948 T C SNP MYL12A ENST00000217652 human ensembl 74_37 +1 known silent c.243 p.N81 0.991 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL12A HGNC ENSG00000101608 118 0 0 58 41 41.4141 PIAS2 0 genome.wustl.edu 37 18 44392466 44392466 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 44392466 44392466 C A SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.1796 p.S599I 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 61 0 0 32 13 28.8889 TCEB3B 0 genome.wustl.edu 37 18 44560351 44560351 + Nonsense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 44560351 44560351 T A SNP TCEB3B ENST00000332567 human ensembl 74_37 -1 known nonsense c.1285 p.K429* 0.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors TCEB3B HGNC ENSG00000206181 155 0 0 82 37 31.0924 CTIF 0 genome.wustl.edu 37 18 46287883 46287883 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 46287883 46287883 G T SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1200 p.E400D 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 101 0 0 73 9 10.9756 SMAD4 0 genome.wustl.edu 37 18 48575209 48575209 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 48575209 48575209 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known nonsense c.403 p.R135* 1.000 pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1 pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 92 0 0 47 27 36.4865 SMAD4 0 genome.wustl.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 48591918 48591918 C T SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1081 p.R361C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 116 0 0 50 25 33.3333 MBD2 0 genome.wustl.edu 37 18 51686245 51686245 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 51686245 51686245 G A SNP MBD2 ENST00000256429 human ensembl 74_37 -1 known missense c.1138 p.R380C 0.992 NULL pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD2 HGNC ENSG00000134046 127 0 0 49 29 37.1795 RAB27B 0 genome.wustl.edu 37 18 52544862 52544862 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 52544862 52544862 G A SNP RAB27B ENST00000262094 human ensembl 74_37 +1 known missense c.46 p.G16R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB27B HGNC ENSG00000041353 72 0 0 34 23 40.3509 WDR7 0 genome.wustl.edu 37 18 54448763 54448763 + Splice_Site SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 54448763 54448763 G T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known splice_site c.3067-1 e18-1 1.000 - - - no_errors WDR7 HGNC ENSG00000091157 85 0 0 36 12 25 ZNF532 0 genome.wustl.edu 37 18 56587463 56587463 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 56587463 56587463 T C SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known silent c.1944 p.H648 0.991 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 162 0 0 60 34 36.1702 MC4R 0 genome.wustl.edu 37 18 58039381 58039381 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 58039381 58039381 C T SNP MC4R ENST00000299766 human ensembl 74_37 -1 known missense c.202 p.A68T 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_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 144 0 0 80 41 33.8843 ARHGAP28 0 genome.wustl.edu 37 18 6887167 6887167 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 6887167 6887167 G A SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1465 p.V489I 0.992 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 87 0 0 26 10 27.7778 LAMA1 0 genome.wustl.edu 37 18 6958590 6958590 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 6958590 6958590 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7850 p.T2617M 0.087 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 63 0 0 47 15 24.1935 LAMA1 0 genome.wustl.edu 37 18 7016644 7016644 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 7016644 7016644 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.2835 p.G945 0.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 49 0 0 23 12 34.2857 LAMA1 0 genome.wustl.edu 37 18 7032152 7032152 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 7032152 7032152 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.2187 p.R729 0.000 pfam_EGF_laminin,smart_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 65 0 0 25 9 26.4706 ZADH2 0 genome.wustl.edu 37 18 72913630 72913630 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 72913630 72913630 T C SNP ZADH2 ENST00000322342 human ensembl 74_37 -1 known missense c.875 p.K292R 1.000 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ZADH2 HGNC ENSG00000180011 145 0 0 47 28 37.3333 ZNF516 0 genome.wustl.edu 37 18 74153207 74153207 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 74153207 74153207 C T SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.1804 p.A602T 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 40 0 0 13 2 13.3333 ZNF516 0 genome.wustl.edu 37 18 74154511 74154511 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 74154511 74154511 G A SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.500 p.P167L 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 46 0 0 19 11 36.6667 GALR1 0 genome.wustl.edu 37 18 74962917 74962917 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 74962917 74962917 T C SNP GALR1 ENST00000299727 human ensembl 74_37 +1 known missense c.413 p.V138A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GAL1_rcpt,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_NPY_rcpt - no_errors GALR1 HGNC ENSG00000166573 72 0 0 50 19 27.5362 ANGPTL6 0 genome.wustl.edu 37 19 10204421 10204421 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 10204421 10204421 T A SNP ANGPTL6 ENST00000253109 human ensembl 74_37 -1 known missense c.899 p.Q300L 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL6 HGNC ENSG00000130812 248 0 0 103 6 5.50459 KEAP1 0 genome.wustl.edu 37 19 10599967 10599967 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 10599967 10599967 A G SNP KEAP1 ENST00000171111 human ensembl 74_37 -1 known missense c.1609 p.Y537H 1.000 pfam_Kelch_1,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 KEAP1 HGNC ENSG00000079999 63 0 0 17 6 26.087 ILF3 0 genome.wustl.edu 37 19 10781711 10781711 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 10781711 10781711 A G SNP ILF3 ENST00000449870 human ensembl 74_37 +1 known missense c.65 p.Y22C 0.999 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 50 0 0 8 9 52.9412 QTRT1 0 genome.wustl.edu 37 19 10823521 10823521 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 10823521 10823521 T C SNP QTRT1 ENST00000250237 human ensembl 74_37 +1 known missense c.949 p.C317R 0.948 pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_Queuine_tRNA-ribosylTrfase,tigrfam_tRNA_ribo_trans-like - no_errors QTRT1 HGNC ENSG00000213339 205 0 0 79 6 7.05882 DOCK6 0 genome.wustl.edu 37 19 11363591 11363591 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 11363591 11363591 A G SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.176 p.V59A 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 38 0 0 13 6 31.5789 ZNF442 0 genome.wustl.edu 37 19 12461809 12461809 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 12461809 12461809 C T SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known missense c.590 p.R197Q 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 ZNF442 HGNC ENSG00000198342 227 0 0 129 57 30.6452 ZNF799 0 genome.wustl.edu 37 19 12502011 12502011 + Missense_Mutation SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 12502011 12502011 C G SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known missense c.1201 p.A401P 0.280 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 ZNF799 HGNC ENSG00000196466 259 0 0 150 81 35.0649 MIDN 0 genome.wustl.edu 37 19 1254309 1254309 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 1254309 1254309 T C SNP MIDN ENST00000300952 human ensembl 74_37 +1 known silent c.528 p.A176 0.083 NULL pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors MIDN HGNC ENSG00000167470 16 0 0 6 5 45.4545 BEST2 0 genome.wustl.edu 37 19 12866252 12866252 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 12866252 12866252 A G SNP BEST2 ENST00000042931 human ensembl 74_37 +1 known silent c.696 p.V232 0.083 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC ENSG00000039987 104 0 0 43 29 40.2778 PRDX2 0 genome.wustl.edu 37 19 12911784 12911784 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 12911784 12911784 A G SNP PRDX2 ENST00000301522 human ensembl 74_37 -1 known missense c.203 p.L68P 1.000 pfam_AhpC/TSA,pfam_Redoxin,superfamily_Thioredoxin-like_fold pfam_AhpC/TSA,pfam_Redoxin,pfam_Peroxiredoxin_C,superfamily_Thioredoxin-like_fold - no_errors PRDX2 HGNC ENSG00000167815 55 0 0 16 6 27.2727 CACNA1A 0 genome.wustl.edu 37 19 13410047 13410047 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 13410047 13410047 G A SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.2400 p.D800 0.846 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 138 0 0 55 18 24.6575 EMR2 0 genome.wustl.edu 37 19 14883284 14883284 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 14883284 14883284 C A SNP EMR2 ENST00000315576 human ensembl 74_37 -1 known silent c.225 p.S75 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR2 HGNC ENSG00000127507 67 0 0 45 30 40 SYDE1 0 genome.wustl.edu 37 19 15221521 15221521 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15221521 15221521 G T SNP SYDE1 ENST00000342784 human ensembl 74_37 +1 known missense c.1265 p.G422V 0.086 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 9 0 0 3 2 40 ILVBL 0 genome.wustl.edu 37 19 15234227 15234227 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15234227 15234227 A G SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.296 p.V99A 1.000 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 122 0 0 63 4 5.97015 BRD4 0 genome.wustl.edu 37 19 15366362 15366362 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15366362 15366362 G A SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known missense c.1793 p.T598M 0.007 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 232 0 0 111 6 5.12821 AKAP8 0 genome.wustl.edu 37 19 15483910 15483910 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15483910 15483910 T C SNP AKAP8 ENST00000269701 human ensembl 74_37 -1 known missense c.613 p.M205V 0.916 NULL pfam_AKAP95 - no_errors AKAP8 HGNC ENSG00000105127 35 0 0 18 12 40 CYP4F3 0 genome.wustl.edu 37 19 15770043 15770043 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15770043 15770043 C A SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.1411 p.Q471K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_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 CYP4F3 HGNC ENSG00000186529 63 0 0 22 8 26.6667 CYP4F2 0 genome.wustl.edu 37 19 15989733 15989733 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15989733 15989733 G T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1411 p.Q471K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_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 89 0 0 38 4 9.52381 CYP4F2 0 genome.wustl.edu 37 19 16000481 16000481 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 16000481 16000481 C T SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.670 p.A224T 0.759 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 263 0 0 98 42 30 CYP4F11 0 genome.wustl.edu 37 19 16025591 16025591 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 16025591 16025591 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known silent c.1230 p.D410 0.031 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F11 HGNC ENSG00000171903 165 0 0 64 29 31.1828 TCF3 0 genome.wustl.edu 37 19 1612274 1612274 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 1612274 1612274 G A SNP TCF3 ENST00000344749 human ensembl 74_37 -1 known missense c.1745 p.A582V 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF3 HGNC ENSG00000071564 88 0 0 39 11 22 SIN3B 0 genome.wustl.edu 37 19 16989392 16989392 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 16989392 16989392 G A SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.3343 p.A1115T 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 37 0 0 5 7 58.3333 PIK3R2 0 genome.wustl.edu 37 19 18277087 18277087 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 18277087 18277087 G A SNP PIK3R2 ENST00000222254 human ensembl 74_37 +1 known missense c.1534 p.E512K 0.998 prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R2 HGNC ENSG00000105647 81 0 0 29 15 34.0909 MPV17L2 0 genome.wustl.edu 37 19 18304193 18304193 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 18304193 18304193 C A SNP MPV17L2 ENST00000599612 human ensembl 74_37 +1 known silent c.102 p.G34 0.897 NULL pfam_Mpv17_PMP22 - no_errors MPV17L2 HGNC ENSG00000254858 18 0 0 4 2 33.3333 LRRC25 0 genome.wustl.edu 37 19 18507103 18507103 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 18507103 18507103 C A SNP LRRC25 ENST00000339007 human ensembl 74_37 -1 known missense c.671 p.R224L 0.680 NULL NULL - no_errors LRRC25 HGNC ENSG00000175489 110 0 0 34 20 37.037 ELL 0 genome.wustl.edu 37 19 18561504 18561504 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 18561504 18561504 C T SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.1248 p.A416 0.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 11 0 0 6 3 33.3333 UBA52 0 genome.wustl.edu 37 19 18684198 18684198 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 18684198 18684198 A T SNP UBA52 ENST00000430157 human ensembl 74_37 +1 known missense c.88 p.I30F 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Ribosomal_L40e,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBA52 HGNC ENSG00000221983 59 0 0 45 4 8.16327 ARMC6 0 genome.wustl.edu 37 19 19166111 19166111 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 19166111 19166111 T C SNP ARMC6 ENST00000392336 human ensembl 74_37 +1 known missense c.1061 p.I354T 0.996 superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC6 HGNC ENSG00000105676 129 0 0 82 7 7.86517 ZNF506 0 genome.wustl.edu 37 19 19905493 19905493 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 19905493 19905493 T C SNP ZNF506 ENST00000443905 human ensembl 74_37 -1 known silent c.1203 p.E401 0.140 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 ZNF506 HGNC ENSG00000081665 102 0 0 67 6 8.21918 ZNF430 0 genome.wustl.edu 37 19 21203611 21203611 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 21203611 21203611 T C SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known splice_site c.3+2 e1+2 0.060 - - - no_errors ZNF430 HGNC ENSG00000118620 227 0 0 89 37 29.3651 ZNF429 0 genome.wustl.edu 37 19 21720712 21720712 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 21720712 21720712 A G SNP ZNF429 ENST00000358491 human ensembl 74_37 +1 novel silent c.1857 p.K619 0.304 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 ZNF429 HGNC ENSG00000197013 127 0 0 52 11 17.4603 ZNF208 0 genome.wustl.edu 37 19 22154210 22154210 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 22154210 22154210 G A SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.3626 p.P1209L 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 96 0 0 58 17 22.6667 ZNF208 0 genome.wustl.edu 37 19 22157496 22157496 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 22157496 22157496 T G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.340 p.K114Q 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 ZNF208 HGNC ENSG00000160321 132 0 0 68 29 29.8969 WDR88 0 genome.wustl.edu 37 19 33663258 33663258 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 33663258 33663258 G T SNP WDR88 ENST00000355868 human ensembl 74_37 +1 known missense c.1154 p.R385M 0.000 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_PQQ_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_PQQ_beta_propeller_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR88 HGNC ENSG00000166359 151 0 0 48 17 26.1538 RBM42 0 genome.wustl.edu 37 19 36128416 36128416 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 36128416 36128416 G A SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.1403 p.R468H 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 89 0 0 31 19 38 APLP1 0 genome.wustl.edu 37 19 36370291 36370291 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 36370291 36370291 A G SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known missense c.1904 p.Q635R 1.000 pfam_APP_amyloid_C,prints_Amyloid_glyco pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,smart_Amyloid_glyco_extra,prints_Amyloid_glyco - no_errors APLP1 HGNC ENSG00000105290 181 0 0 62 23 27.0588 HKR1 0 genome.wustl.edu 37 19 37853830 37853830 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 37853830 37853830 C T SNP HKR1 ENST00000324411 human ensembl 74_37 +1 known missense c.1133 p.A378V 0.118 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 HKR1 HGNC ENSG00000181666 169 0 0 94 41 30.3704 SIPA1L3 0 genome.wustl.edu 37 19 38652962 38652962 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 38652962 38652962 C T SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.3731 p.P1244L 0.150 NULL pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 93 0 0 39 15 27.7778 SIPA1L3 0 genome.wustl.edu 37 19 38692591 38692591 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 38692591 38692591 A G SNP SIPA1L3 ENST00000222345 human ensembl 74_37 +1 known missense c.5074 p.S1692G 1.000 pfam_DUF3401 pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L3 HGNC ENSG00000105738 106 0 0 41 12 22.6415 ACTN4 0 genome.wustl.edu 37 19 39207889 39207889 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 39207889 39207889 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1076 p.T359M 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors ACTN4 HGNC ENSG00000130402 96 0 0 22 12 35.2941 LGALS16 0 genome.wustl.edu 37 19 40149189 40149189 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 40149189 40149189 G A SNP LGALS16 ENST00000392051 human ensembl 74_37 +1 known missense c.182 p.R61H 0.001 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS16 HGNC ENSG00000249861 41 0 0 16 6 27.2727 FCGBP 0 genome.wustl.edu 37 19 40366349 40366349 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 40366349 40366349 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.13885 p.G4629R 0.000 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 147 0 0 57 29 33.7209 FCGBP 0 genome.wustl.edu 37 19 40389699 40389699 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 40389699 40389699 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.8483 p.G2828E 0.000 smart_VWC_out,smart_VWF_C,smart_Fol_N 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 63 0 0 11 5 31.25 FCGBP 0 genome.wustl.edu 37 19 40398082 40398082 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 40398082 40398082 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.6885 p.D2295 1.000 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 60 0 0 50 10 16.6667 FCGBP 0 genome.wustl.edu 37 19 40421304 40421304 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 40421304 40421304 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.2617 p.V873M 0.625 pfam_VWF_type-D,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 27 0 0 8 7 46.6667 ZBTB7A 0 genome.wustl.edu 37 19 4048234 4048234 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 4048234 4048234 T G SNP ZBTB7A ENST00000322357 human ensembl 74_37 -1 known missense c.1271 p.K424T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB7A HGNC ENSG00000178951 60 0 0 23 14 37.8378 MAP2K2 0 genome.wustl.edu 37 19 4099311 4099311 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 4099311 4099311 C T SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known silent c.807 p.P269 0.709 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 18 0 0 10 5 33.3333 SPTBN4 0 genome.wustl.edu 37 19 41026037 41026037 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 41026037 41026037 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.3633 p.A1211 0.067 pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 34 0 0 11 6 35.2941 CYP2B6 0 genome.wustl.edu 37 19 41510286 41510286 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 41510286 41510286 G A SNP CYP2B6 ENST00000324071 human ensembl 74_37 +1 known missense c.419 p.R140Q 0.310 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I_CYP2A-like - no_errors CYP2B6 HGNC ENSG00000197408 47 0 0 23 10 30.303 AXL 0 genome.wustl.edu 37 19 41726645 41726645 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 41726645 41726645 C T SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.190 p.P64S 0.998 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC ENSG00000167601 41 0 0 22 7 24.1379 LYPD4 0 genome.wustl.edu 37 19 42342319 42342319 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 42342319 42342319 A G SNP LYPD4 ENST00000330743 human ensembl 74_37 -1 known silent c.228 p.V76 0.472 NULL pfam_LY6_UPAR - no_errors LYPD4 HGNC ENSG00000183103 75 0 0 33 3 8.33333 ARHGEF1 0 genome.wustl.edu 37 19 42402713 42402713 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 42402713 42402713 T C SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known missense c.1289 p.V430A 1.000 superfamily_DH-domain pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 12 0 0 3 5 62.5 ZNF574 0 genome.wustl.edu 37 19 42584319 42584319 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 42584319 42584319 C T SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.1831 p.R611W 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 589 0 0 204 72 26.087 PSG3 0 genome.wustl.edu 37 19 43236954 43236954 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 43236954 43236954 C A SNP PSG3 ENST00000327495 human ensembl 74_37 -1 known missense c.691 p.V231F 0.856 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 731 1 0.136612 237 45 15.9574 PSG2 0 genome.wustl.edu 37 19 43579581 43579581 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 43579581 43579581 C T SNP PSG2 ENST00000406487 human ensembl 74_37 -1 known missense c.634 p.A212T 0.002 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG2 HGNC ENSG00000242221 728 0 0 281 153 35.2535 TEX101 0 genome.wustl.edu 37 19 43922422 43922422 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 43922422 43922422 C T SNP TEX101 ENST00000253435 human ensembl 74_37 +1 known missense c.677 p.A226V 0.000 pfam_LY6_UPAR pfam_LY6_UPAR - no_errors TEX101 HGNC ENSG00000131126 179 0 0 72 50 40.9836 IRGC 0 genome.wustl.edu 37 19 44222940 44222940 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 44222940 44222940 T C SNP IRGC ENST00000244314 human ensembl 74_37 +1 known missense c.230 p.L77P 0.076 pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase pfam_Interferon-induced_GTPase,superfamily_P-loop_NTPase - no_errors IRGC HGNC ENSG00000124449 109 1 0.909091 74 11 12.9412 ZNF226 0 genome.wustl.edu 37 19 44676323 44676323 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 44676323 44676323 A G SNP ZNF226 ENST00000337433 human ensembl 74_37 +1 known missense c.98 p.Y33C 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF226 HGNC ENSG00000167380 312 0 0 104 49 32.0261 CBLC 0 genome.wustl.edu 37 19 45296747 45296747 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 45296747 45296747 C T SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.1154 p.T385I 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 49 0 0 15 4 21.0526 RELB 0 genome.wustl.edu 37 19 45515448 45515448 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 45515448 45515448 T C SNP RELB ENST00000221452 human ensembl 74_37 +1 known missense c.418 p.F140L 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_Dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 45 0 0 16 5 23.8095 RELB 0 genome.wustl.edu 37 19 45528941 45528941 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 45528941 45528941 C T SNP RELB ENST00000221452 human ensembl 74_37 +1 known nonsense c.832 p.Q278* 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 377 1 0.26455 103 42 28.9655 NKPD1 0 genome.wustl.edu 37 19 45655847 45655847 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 45655847 45655847 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known silent c.1848 p.P616 0.963 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 23 0 0 8 4 33.3333 FOSB 0 genome.wustl.edu 37 19 45973963 45973963 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 45973963 45973963 A G SNP FOSB ENST00000353609 human ensembl 74_37 +1 known missense c.203 p.Q68R 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 412 0 0 129 73 36.1386 PPP5C 0 genome.wustl.edu 37 19 46890442 46890442 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 46890442 46890442 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.997 p.E333K 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 75 0 0 27 9 25 C5AR1 0 genome.wustl.edu 37 19 47823944 47823944 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 47823944 47823944 G A SNP C5AR1 ENST00000355085 human ensembl 74_37 +1 known missense c.910 p.G304S 0.893 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt - no_errors C5AR1 HGNC ENSG00000197405 237 0 0 117 8 6.4 SULT2A1 0 genome.wustl.edu 37 19 48385411 48385411 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 48385411 48385411 C T SNP SULT2A1 ENST00000222002 human ensembl 74_37 -1 known nonsense c.402 p.W134* 0.002 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT2A1 HGNC ENSG00000105398 176 0 0 71 22 23.6559 PLIN3 0 genome.wustl.edu 37 19 4844784 4844784 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 4844784 4844784 C T SNP PLIN3 ENST00000221957 human ensembl 74_37 -1 known missense c.856 p.V286I 0.004 pfam_Perilipin,pirsf_Perilipin pfam_Perilipin,pirsf_Perilipin - no_errors PLIN3 HGNC ENSG00000105355 23 0 0 13 5 27.7778 RUVBL2 0 genome.wustl.edu 37 19 49513257 49513257 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 49513257 49513257 G A SNP RUVBL2 ENST00000221413 human ensembl 74_37 +1 known missense c.586 p.G196R 0.012 NULL pfam_TIP49_C,pfam_DNA_helicase_DnaB-like_C,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase - no_errors RUVBL2 HGNC ENSG00000183207 124 0 0 47 26 35.6164 HRC 0 genome.wustl.edu 37 19 49658190 49658190 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 49658190 49658190 A G SNP HRC ENST00000252825 human ensembl 74_37 -1 known missense c.305 p.L102P 0.000 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 160 0 0 64 41 39.0476 ALDH16A1 0 genome.wustl.edu 37 19 49962308 49962308 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 49962308 49962308 G A SNP ALDH16A1 ENST00000293350 human ensembl 74_37 +1 known silent c.285 p.A95 0.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH - no_errors ALDH16A1 HGNC ENSG00000161618 174 0 0 71 31 30.3922 RRAS 0 genome.wustl.edu 37 19 50140109 50140109 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 50140109 50140109 G A SNP RRAS ENST00000246792 human ensembl 74_37 -1 known silent c.316 p.L106 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS HGNC ENSG00000126458 173 0 0 39 22 36.0656 SCAF1 0 genome.wustl.edu 37 19 50156621 50156621 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 50156621 50156621 C T SNP SCAF1 ENST00000360565 human ensembl 74_37 +1 known missense c.2975 p.S992L 0.997 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 16 0 0 2 5 71.4286 PTOV1 0 genome.wustl.edu 37 19 50358291 50358291 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 50358291 50358291 G A SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known missense c.515 p.C172Y 0.999 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 21 0 0 5 2 28.5714 NR1H2 0 genome.wustl.edu 37 19 50881507 50881507 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 50881507 50881507 T C SNP NR1H2 ENST00000253727 human ensembl 74_37 +1 known missense c.283 p.S95P 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_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 410 1 0.243309 142 67 32.0574 ASPDH 0 genome.wustl.edu 37 19 51017889 51017889 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 51017889 51017889 G A SNP ASPDH ENST00000597030 human ensembl 74_37 -1 known rna NULL NULL 0.018 - - - no_errors ASPDH HGNC ENSG00000204653 49 0 0 27 13 32.5 KLK10 0 genome.wustl.edu 37 19 51520527 51520527 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 51520527 51520527 G T SNP KLK10 ENST00000309958 human ensembl 74_37 -1 known silent c.108 p.L36 0.687 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK10 HGNC ENSG00000129451 44 0 0 12 5 29.4118 ETFB 0 genome.wustl.edu 37 19 51853588 51853588 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 51853588 51853588 G A SNP ETFB ENST00000354232 human ensembl 74_37 -1 known missense c.706 p.P236S 1.000 pfam_ETF_a/b_N,smart_ETF_a/b_N pfam_ETF_a/b_N,smart_ETF_a/b_N - no_errors ETFB HGNC ENSG00000105379 24 0 0 11 4 26.6667 ENSG00000255441 0 genome.wustl.edu 37 19 51919896 51919896 + RNA SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 51919896 51919896 C A SNP ENSG00000255441 ENST00000526996 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2616J11.2 Clone_based_vega_gene ENSG00000255441 39 0 0 9 4 30.7692 PTPRS 0 genome.wustl.edu 37 19 5218436 5218436 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 5218436 5218436 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.4046 p.T1349I 0.999 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 402 0 0 119 60 33.5196 MBOAT7 0 genome.wustl.edu 37 19 54677780 54677780 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 54677780 54677780 G A SNP MBOAT7 ENST00000245615 human ensembl 74_37 -1 known silent c.1377 p.S459 0.339 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 46 0 0 20 14 41.1765 TSEN34 0 genome.wustl.edu 37 19 54696167 54696167 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 54696167 54696167 C T SNP TSEN34 ENST00000429671 human ensembl 74_37 +1 known nonsense c.688 p.R230* 0.755 pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic pfam_tRNA_intron_Endonuc_cat-like,superfamily_tRNA_intron_Endonuc_cat-like,pirsf_tRNA_splic_SEN34,tigrfam_tRNA_splic - no_errors TSEN34 HGNC ENSG00000170892 146 0 0 53 38 41.7582 LILRB3 0 genome.wustl.edu 37 19 54726628 54726628 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 54726628 54726628 C T SNP LILRB3 ENST00000346401 human ensembl 74_37 -1 known missense c.61 p.V21M 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB3 HGNC ENSG00000204577 14 0 0 4 3 42.8571 LENG8 0 genome.wustl.edu 37 19 54967856 54967856 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 54967856 54967856 C T SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.1487 p.A496V 0.937 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 40 0 0 10 6 37.5 LILRB1 0 genome.wustl.edu 37 19 55148284 55148284 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 55148284 55148284 C A SNP LILRB1 ENST00000324602 human ensembl 74_37 +1 known silent c.1914 p.P638 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB1 HGNC ENSG00000104972 124 0 0 47 13 21.6667 NLRP2 0 genome.wustl.edu 37 19 55508826 55508826 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 55508826 55508826 A G SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known silent c.3021 p.T1007 0.012 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 243 0 0 107 25 18.9394 ZNF628 0 genome.wustl.edu 37 19 55993117 55993117 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 55993117 55993117 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.557 p.T186M 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 39 0 0 13 12 48 ZNF628 0 genome.wustl.edu 37 19 55994462 55994462 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 55994462 55994462 C T SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known silent c.1902 p.A634 0.904 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 43 0 0 12 13 52 PEG3 0 genome.wustl.edu 37 19 57327277 57327277 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 57327277 57327277 T C SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.2533 p.R845G 0.049 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 120 0 0 82 42 33.871 CATSPERD 0 genome.wustl.edu 37 19 5778593 5778593 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 5778593 5778593 C T SNP CATSPERD ENST00000381624 human ensembl 74_37 +1 known missense c.2303 p.T768M 0.000 NULL superfamily_WD40_repeat_dom - no_errors CATSPERD HGNC ENSG00000174898 154 0 0 41 23 35.9375 PRSS57 0 genome.wustl.edu 37 19 685738 685738 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 685738 685738 C A SNP PRSS57 ENST00000329267 human ensembl 74_37 -1 known missense c.830 p.R277M 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS57 HGNC ENSG00000185198 14 0 0 0 3 100 PNPLA6 0 genome.wustl.edu 37 19 7619868 7619868 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 7619868 7619868 C T SNP PNPLA6 ENST00000414982 human ensembl 74_37 +1 known silent c.2754 p.T918 0.037 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA6 HGNC ENSG00000032444 13 0 0 7 4 36.3636 XAB2 0 genome.wustl.edu 37 19 7688074 7688074 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 7688074 7688074 G A SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known silent c.1221 p.D407 0.998 smart_TPR_repeat,pfscan_TPR-contain_dom smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 162 0 0 53 28 34.5679 LRRC8E 0 genome.wustl.edu 37 19 7960576 7960576 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 7960576 7960576 T C SNP LRRC8E ENST00000306708 human ensembl 74_37 +1 known missense c.88 p.Y30H 1.000 pfam_LRR_protein-8_N pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8E HGNC ENSG00000171017 110 0 0 30 14 31.8182 FBN3 0 genome.wustl.edu 37 19 8188452 8188452 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 8188452 8188452 A G SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.2978 p.F993S 0.990 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 73 0 0 24 18 42.8571 CERS4 0 genome.wustl.edu 37 19 8326866 8326866 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 8326866 8326866 C A SNP CERS4 ENST00000251363 human ensembl 74_37 +1 known missense c.1058 p.A353E 0.114 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS4 HGNC ENSG00000090661 93 0 0 24 6 20 PRTN3 0 genome.wustl.edu 37 19 847946 847946 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 847946 847946 G A SNP PRTN3 ENST00000234347 human ensembl 74_37 +1 known missense c.748 p.V250M 0.002 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRTN3 HGNC ENSG00000196415 9 0 0 10 3 23.0769 MYO1F 0 genome.wustl.edu 37 19 8609293 8609293 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 8609293 8609293 G A SNP MYO1F ENST00000338257 human ensembl 74_37 -1 known missense c.1412 p.T471M 0.989 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain - no_errors MYO1F HGNC ENSG00000142347 69 0 0 16 9 36 MUC16 0 genome.wustl.edu 37 19 9057815 9057815 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 9057815 9057815 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.29631 p.P9877 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 146 0 0 58 49 45.7944 ZNF317 0 genome.wustl.edu 37 19 9271302 9271302 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 9271302 9271302 G A SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known silent c.981 p.T327 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ENSG00000130803 140 0 0 31 18 36.7347 ZNF317 0 genome.wustl.edu 37 19 9271423 9271423 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 9271423 9271423 G A SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.1102 p.G368S 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF317 HGNC ENSG00000130803 53 0 0 33 12 26.6667 WDR18 0 genome.wustl.edu 37 19 994293 994293 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 994293 994293 C T SNP WDR18 ENST00000251289 human ensembl 74_37 +1 known missense c.1249 p.R417W 0.944 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR18 HGNC ENSG00000065268 40 0 0 6 4 40 EIF5B 0 genome.wustl.edu 37 2 100006804 100006804 + Silent SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 100006804 100006804 T G SNP EIF5B ENST00000289371 human ensembl 74_37 +1 known silent c.2526 p.T842 0.771 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 195 0 0 118 53 30.9942 HPCAL1 0 genome.wustl.edu 37 2 10560261 10560261 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 10560261 10560261 G T SNP HPCAL1 ENST00000307845 human ensembl 74_37 +1 known missense c.378 p.Q126H 1.000 pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 77 0 0 37 18 32.7273 RANBP2 0 genome.wustl.edu 37 2 109374884 109374884 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 109374884 109374884 T C SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known silent c.2482 p.L828 0.973 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 289 0 0 225 12 5.06329 KCNF1 0 genome.wustl.edu 37 2 11053150 11053150 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 11053150 11053150 T C SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.598 p.C200R 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 65 0 0 30 11 26.8293 KCNF1 0 genome.wustl.edu 37 2 11053256 11053256 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 11053256 11053256 T C SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.704 p.L235P 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 117 0 0 41 18 30.5085 PSD4 0 genome.wustl.edu 37 2 113942987 113942987 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 113942987 113942987 C T SNP PSD4 ENST00000245796 human ensembl 74_37 +1 known missense c.1219 p.P407S 0.066 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD4 HGNC ENSG00000125637 179 0 0 94 29 23.5772 TSN 0 genome.wustl.edu 37 2 122520638 122520638 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 122520638 122520638 T C SNP TSN ENST00000389682 human ensembl 74_37 +1 known missense c.431 p.V144A 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSN HGNC ENSG00000211460 68 0 0 45 12 21.0526 LIMS2 0 genome.wustl.edu 37 2 128399701 128399701 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 128399701 128399701 C T SNP LIMS2 ENST00000324938 human ensembl 74_37 -1 known missense c.655 p.V219I 0.601 pirsf_PINCH pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS2 HGNC ENSG00000072163 29 0 0 16 4 20 POTEJ 0 genome.wustl.edu 37 2 131414500 131414500 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 131414500 131414500 A T SNP POTEJ ENST00000409602 human ensembl 74_37 +1 novel missense c.2167 p.S723C 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEJ HGNC ENSG00000222038 122 0 0 45 18 28.5714 MAP3K19 0 genome.wustl.edu 37 2 135738675 135738675 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 135738675 135738675 G T SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known silent c.3636 p.A1212 0.993 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 MAP3K19 HGNC ENSG00000176601 125 0 0 71 29 29 GALNT5 0 genome.wustl.edu 37 2 158115854 158115854 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 158115854 158115854 G A SNP GALNT5 ENST00000259056 human ensembl 74_37 +1 known silent c.1260 p.T420 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 GALNT5 HGNC ENSG00000136542 118 0 0 56 26 31.7073 TANC1 0 genome.wustl.edu 37 2 160027265 160027265 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 160027265 160027265 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.1300 p.G434R 1.000 superfamily_P-loop_NTPase pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 130 0 0 68 21 23.5955 WDSUB1 0 genome.wustl.edu 37 2 160139475 160139475 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 160139475 160139475 G T SNP WDSUB1 ENST00000359774 human ensembl 74_37 -1 known missense c.106 p.L36M 0.893 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDSUB1 HGNC ENSG00000196151 136 0 0 63 31 32.9787 BAZ2B 0 genome.wustl.edu 37 2 160243034 160243034 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 160243034 160243034 G A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known nonsense c.3301 p.R1101* 1.000 pfam_DDT_dom,smart_DDT_dom_subgr,pfscan_DDT_dom_superfamily pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 158 0 0 66 21 24.1379 LY75 0 genome.wustl.edu 37 2 160714970 160714970 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 160714970 160714970 C T SNP LY75 ENST00000554112 human ensembl 74_37 -1 known nonsense c.2286 p.W762* 0.999 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin 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 LY75 HGNC ENSG00000054219 73 0 0 29 16 35.5556 ITGB6 0 genome.wustl.edu 37 2 160993972 160993972 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 160993972 160993972 C T SNP ITGB6 ENST00000283249 human ensembl 74_37 -1 known missense c.1633 p.V545M 0.999 pirsf_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 133 0 0 59 31 34.4444 SLC4A10 0 genome.wustl.edu 37 2 162751204 162751204 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 162751204 162751204 G T SNP SLC4A10 ENST00000446997 human ensembl 74_37 +1 known missense c.1210 p.A404S 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC ENSG00000144290 56 0 0 37 8 17.7778 PXDN 0 genome.wustl.edu 37 2 1670163 1670163 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 1670163 1670163 G A SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.1114 p.R372W 0.002 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 52 0 0 22 11 33.3333 SCN7A 0 genome.wustl.edu 37 2 167288839 167288839 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 167288839 167288839 C A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.2581 p.G861C 0.877 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 89 0 0 46 32 41.0256 PPIG 0 genome.wustl.edu 37 2 170493131 170493131 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 170493131 170493131 A G SNP PPIG ENST00000260970 human ensembl 74_37 +1 known missense c.1363 p.R455G 1.000 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 38 0 0 43 4 8.51064 MYO3B 0 genome.wustl.edu 37 2 171258116 171258116 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 171258116 171258116 G A SNP MYO3B ENST00000334231 human ensembl 74_37 +1 known missense c.2071 p.A691T 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 96 0 0 38 13 25.4902 GAD1 0 genome.wustl.edu 37 2 171700573 171700573 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 171700573 171700573 A G SNP GAD1 ENST00000358196 human ensembl 74_37 +1 known silent c.657 p.A219 0.809 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD1 HGNC ENSG00000128683 86 0 0 46 16 25.8065 DLX2 0 genome.wustl.edu 37 2 172965365 172965365 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 172965365 172965365 G A SNP DLX2 ENST00000234198 human ensembl 74_37 -1 known missense c.893 p.P298L 1.000 NULL pfam_Homeobox_dom,pfam_Distal-less_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX2 HGNC ENSG00000115844 48 0 0 15 7 31.8182 SMC6 0 genome.wustl.edu 37 2 17896308 17896308 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 17896308 17896308 G A SNP SMC6 ENST00000381272 human ensembl 74_37 -1 known missense c.1628 p.P543L 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 189 0 0 70 29 29.2929 TTN 0 genome.wustl.edu 37 2 179398999 179398999 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 179398999 179398999 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.94639 p.G31547C 1.000 superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 150 0 0 89 31 25.8333 TTN 0 genome.wustl.edu 37 2 179422693 179422693 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 179422693 179422693 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79684 p.I26562V 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 335 0 0 147 90 37.9747 TTN 0 genome.wustl.edu 37 2 179424438 179424438 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 179424438 179424438 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.78717 p.R26239 0.001 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 184 0 0 89 48 35.0365 TTN 0 genome.wustl.edu 37 2 179569069 179569069 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 179569069 179569069 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.26296 p.C8766R 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 176 0 0 153 9 5.55556 TTN 0 genome.wustl.edu 37 2 179623734 179623734 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 179623734 179623734 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10280 p.S3427N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 127 0 0 95 5 5 SESTD1 0 genome.wustl.edu 37 2 180008501 180008501 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 180008501 180008501 G A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known missense c.667 p.R223C 1.000 NULL superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 162 0 0 67 33 33 NEUROD1 0 genome.wustl.edu 37 2 182543540 182543540 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 182543540 182543540 G T SNP NEUROD1 ENST00000295108 human ensembl 74_37 -1 known silent c.48 p.P16 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 124 0 0 52 7 11.8644 FRZB 0 genome.wustl.edu 37 2 183730945 183730945 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 183730945 183730945 G A SNP FRZB ENST00000295113 human ensembl 74_37 -1 known silent c.336 p.C112 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 FRZB HGNC ENSG00000162998 57 0 0 31 16 34.0426 SLC40A1 0 genome.wustl.edu 37 2 190428721 190428721 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 190428721 190428721 A G SNP SLC40A1 ENST00000261024 human ensembl 74_37 -1 known missense c.991 p.Y331H 1.000 pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt - no_errors SLC40A1 HGNC ENSG00000138449 42 0 0 26 20 43.4783 MFSD6 0 genome.wustl.edu 37 2 191301912 191301912 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 191301912 191301912 C A SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.1157 p.A386D 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 69 0 0 36 21 36.8421 STAT1 0 genome.wustl.edu 37 2 191872290 191872290 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 191872290 191872290 T C SNP STAT1 ENST00000361099 human ensembl 74_37 -1 known missense c.371 p.Q124R 1.000 NULL pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 110 0 0 42 18 30 STK17B 0 genome.wustl.edu 37 2 197021202 197021202 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 197021202 197021202 A G SNP STK17B ENST00000263955 human ensembl 74_37 -1 known missense c.296 p.V99A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors STK17B HGNC ENSG00000081320 64 0 0 46 5 9.80392 CCDC150 0 genome.wustl.edu 37 2 197576930 197576930 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 197576930 197576930 A G SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known missense c.1757 p.D586G 1.000 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 18 0 0 5 2 28.5714 PARD3B 0 genome.wustl.edu 37 2 206165331 206165331 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 206165331 206165331 G A SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known missense c.2263 p.A755T 0.999 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 202 1 0.492611 84 39 31.7073 PIKFYVE 0 genome.wustl.edu 37 2 209195290 209195290 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 209195290 209195290 G A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known missense c.3835 p.V1279I 1.000 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 419 0 0 234 127 35.1801 ERBB4 0 genome.wustl.edu 37 2 212251706 212251706 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 212251706 212251706 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3353 p.H1118R 0.012 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 142 0 0 71 26 26.8041 IKZF2 0 genome.wustl.edu 37 2 213872632 213872632 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 213872632 213872632 C T SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known missense c.1033 p.A345T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 88 0 0 37 13 26 TNS1 0 genome.wustl.edu 37 2 218762539 218762539 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 218762539 218762539 T C SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known silent c.150 p.K50 0.990 pfscan_Phosphatase_tensin-typ 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_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 114 0 0 43 12 21.8182 CXCR1 0 genome.wustl.edu 37 2 219029127 219029127 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 219029127 219029127 T C SNP CXCR1 ENST00000295683 human ensembl 74_37 -1 known missense c.808 p.T270A 0.209 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR_1/2,prints_GPCR_Rhodpsn,prints_Chemokine_CXCR1,prints_Chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CXCR1 HGNC ENSG00000163464 149 0 0 73 40 35.3982 USP37 0 genome.wustl.edu 37 2 219411727 219411727 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 219411727 219411727 T C SNP USP37 ENST00000258399 human ensembl 74_37 -1 known missense c.517 p.T173A 0.995 NULL pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67 - no_errors USP37 HGNC ENSG00000135913 187 0 0 52 36 40.9091 RQCD1 0 genome.wustl.edu 37 2 219445338 219445338 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 219445338 219445338 A G SNP RQCD1 ENST00000509807 human ensembl 74_37 +1 known missense c.79 p.N27D 1.000 pfam_Rcd1 pfam_Rcd1,superfamily_ARM-type_fold - no_errors RQCD1 HGNC ENSG00000144580 81 0 0 54 19 26.0274 ZNF142 0 genome.wustl.edu 37 2 219508243 219508243 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 219508243 219508243 T C SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.2996 p.H999R 0.202 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 153 1 0.649351 73 27 27 IRS1 0 genome.wustl.edu 37 2 227660074 227660074 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 227660074 227660074 G A SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known silent c.3381 p.G1127 0.001 NULL pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors IRS1 HGNC ENSG00000169047 82 0 0 44 23 34.3284 COL4A4 0 genome.wustl.edu 37 2 227920728 227920728 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 227920728 227920728 G A SNP COL4A4 ENST00000396625 human ensembl 74_37 -1 known silent c.2649 p.P883 0.033 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A4 HGNC ENSG00000081052 108 0 0 33 19 36.5385 ARMC9 0 genome.wustl.edu 37 2 232091513 232091513 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 232091513 232091513 T C SNP ARMC9 ENST00000349938 human ensembl 74_37 +1 known splice_site c.622+2 e6+2 1.000 - - - no_errors ARMC9 HGNC ENSG00000135931 94 0 0 48 17 26.1538 NCL 0 genome.wustl.edu 37 2 232325259 232325259 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 232325259 232325259 T C SNP NCL ENST00000322723 human ensembl 74_37 -1 known silent c.828 p.A276 0.523 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 218 0 0 108 56 34.1463 DIS3L2 0 genome.wustl.edu 37 2 233199154 233199154 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 233199154 233199154 C T SNP DIS3L2 ENST00000325385 human ensembl 74_37 +1 known missense c.2234 p.A745V 0.947 NULL NULL - no_errors DIS3L2 HGNC ENSG00000144535 74 0 0 32 9 21.9512 ALPP 0 genome.wustl.edu 37 2 233244487 233244487 + Silent SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 233244487 233244487 A C SNP ALPP ENST00000392027 human ensembl 74_37 +1 known silent c.498 p.G166 0.856 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 70 0 0 32 10 23.8095 GIGYF2 0 genome.wustl.edu 37 2 233599897 233599897 + RNA SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 233599897 233599897 T G SNP GIGYF2 ENST00000463554 human ensembl 74_37 +1 known rna NULL NULL 0.975 - - - no_errors GIGYF2 HGNC ENSG00000204120 36 0 0 17 7 29.1667 COL6A3 0 genome.wustl.edu 37 2 238249716 238249716 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 238249716 238249716 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.7843 p.D2615N 0.884 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 370 0 0 97 64 39.7516 HDAC4 0 genome.wustl.edu 37 2 240033383 240033383 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 240033383 240033383 C T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.1802 p.R601Q 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 17 0 0 10 5 33.3333 C2orf54 0 genome.wustl.edu 37 2 241835242 241835242 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 241835242 241835242 A C SNP C2orf54 ENST00000388934 human ensembl 74_37 -1 known missense c.173 p.I58S 0.023 NULL NULL - no_errors C2orf54 HGNC ENSG00000172478 81 0 0 28 12 30 SNED1 0 genome.wustl.edu 37 2 241969712 241969712 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 241969712 241969712 C T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known silent c.225 p.N75 0.748 NULL pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 24 0 0 3 6 66.6667 KCNK3 0 genome.wustl.edu 37 2 26950859 26950859 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 26950859 26950859 G A SNP KCNK3 ENST00000302909 human ensembl 74_37 +1 known missense c.608 p.G203D 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK3,prints_2pore_dom_K_chnl - no_errors KCNK3 HGNC ENSG00000171303 82 0 0 25 19 43.1818 CAD 0 genome.wustl.edu 37 2 27458431 27458431 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 27458431 27458431 C T SNP CAD ENST00000264705 human ensembl 74_37 +1 known missense c.3997 p.R1333W 1.000 pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC ENSG00000084774 184 0 0 59 27 31.3953 GTF3C2 0 genome.wustl.edu 37 2 27558811 27558811 + Silent SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 27558811 27558811 T A SNP GTF3C2 ENST00000264720 human ensembl 74_37 -1 known silent c.1440 p.A480 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC ENSG00000115207 90 0 0 23 10 30.303 ADI1 0 genome.wustl.edu 37 2 3502771 3502771 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 3502771 3502771 C T SNP ADI1 ENST00000327435 human ensembl 74_37 -1 known missense c.503 p.R168H 0.997 superfamily_RmlC_Cupin pfam_Acireductn_dOase_family,pfam_Cupin_2,pfam_AraC-bd,superfamily_RmlC_Cupin - no_errors ADI1 HGNC ENSG00000182551 96 0 0 37 14 27.451 CRIM1 0 genome.wustl.edu 37 2 36583582 36583582 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 36583582 36583582 G A SNP CRIM1 ENST00000280527 human ensembl 74_37 +1 known silent c.147 p.R49 1.000 smart_IGFBP-like pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C - no_errors CRIM1 HGNC ENSG00000150938 45 0 0 12 7 36.8421 VIT 0 genome.wustl.edu 37 2 36970398 36970398 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 36970398 36970398 A C SNP VIT ENST00000379242 human ensembl 74_37 +1 known missense c.274 p.S92R 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC ENSG00000205221 67 0 0 52 5 8.77193 HEATR5B 0 genome.wustl.edu 37 2 37284574 37284574 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 37284574 37284574 A G SNP HEATR5B ENST00000233099 human ensembl 74_37 -1 known silent c.2109 p.T703 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 72 0 0 39 3 7.14286 PRKD3 0 genome.wustl.edu 37 2 37516634 37516634 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 37516634 37516634 T C SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known silent c.582 p.K194 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 112 0 0 40 27 40.2985 ATL2 0 genome.wustl.edu 37 2 38525369 38525369 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 38525369 38525369 T C SNP ATL2 ENST00000378954 human ensembl 74_37 -1 known missense c.1549 p.T517A 1.000 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C - no_errors ATL2 HGNC ENSG00000119787 109 0 0 64 23 26.4368 PKDCC 0 genome.wustl.edu 37 2 42280472 42280472 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 42280472 42280472 C T SNP PKDCC ENST00000294964 human ensembl 74_37 +1 known silent c.733 p.L245 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PKDCC HGNC ENSG00000162878 225 0 0 66 37 35.9223 PLEKHH2 0 genome.wustl.edu 37 2 43970051 43970051 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 43970051 43970051 A G SNP PLEKHH2 ENST00000282406 human ensembl 74_37 +1 known missense c.3393 p.I1131M 0.848 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH2 HGNC ENSG00000152527 95 0 0 55 24 30.3797 SIX3 0 genome.wustl.edu 37 2 45169340 45169340 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 45169340 45169340 G A SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known missense c.97 p.G33S 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 110 0 0 50 38 43.1818 FBXO11 0 genome.wustl.edu 37 2 48035303 48035303 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 48035303 48035303 T C SNP FBXO11 ENST00000403359 human ensembl 74_37 -1 known missense c.2738 p.Y913C 1.000 NULL pfam_Znf_N-recognin,pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 257 0 0 124 62 33.3333 NRXN1 0 genome.wustl.edu 37 2 50280668 50280668 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 50280668 50280668 C T SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known missense c.3845 p.G1282D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 154 0 0 78 15 16.129 NRXN1 0 genome.wustl.edu 37 2 51255157 51255157 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 51255157 51255157 G A SNP NRXN1 ENST00000402717 human ensembl 74_37 -1 known silent c.255 p.R85 0.769 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 33 0 0 16 12 42.8571 RTN4 0 genome.wustl.edu 37 2 55252719 55252719 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 55252719 55252719 A G SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.2516 p.V839A 0.017 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 100 0 0 85 10 10.5263 PAPOLG 0 genome.wustl.edu 37 2 60983631 60983631 + Splice_Site SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 60983631 60983631 G A SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known splice_site c.17+1 e1+1 1.000 - - - no_errors PAPOLG HGNC ENSG00000115421 96 0 0 16 12 42.8571 CCT4 0 genome.wustl.edu 37 2 62110669 62110669 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 62110669 62110669 T C SNP CCT4 ENST00000394440 human ensembl 74_37 -1 known silent c.195 p.K65 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_delta - no_errors CCT4 HGNC ENSG00000115484 35 0 0 21 11 34.375 AFTPH 0 genome.wustl.edu 37 2 64779519 64779519 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 64779519 64779519 T C SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.911 p.I304T 0.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 161 0 0 74 40 35.0877 MEIS1 0 genome.wustl.edu 37 2 66798628 66798628 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 66798628 66798628 G T SNP MEIS1 ENST00000407092 human ensembl 74_37 +1 known missense c.1365 p.M455I 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS1 HGNC ENSG00000143995 24 0 0 4 3 42.8571 CYP26B1 0 genome.wustl.edu 37 2 72359391 72359391 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 72359391 72359391 G A SNP CYP26B1 ENST00000001146 human ensembl 74_37 -1 known missense c.1504 p.P502S 1.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 17 0 0 4 5 55.5556 C2orf78 0 genome.wustl.edu 37 2 74043234 74043234 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 74043234 74043234 G A SNP C2orf78 ENST00000409561 human ensembl 74_37 +1 novel missense c.1884 p.M628I 0.997 NULL NULL - no_errors C2orf78 HGNC ENSG00000187833 135 0 0 37 22 37.2881 CTNNA2 0 genome.wustl.edu 37 2 80136836 80136836 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 80136836 80136836 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known silent c.1071 p.T357 0.007 pfam_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 154 0 0 55 31 36.0465 LRRTM1 0 genome.wustl.edu 37 2 80529715 80529715 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 80529715 80529715 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known silent c.1230 p.T410 0.146 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 75 0 0 47 5 9.61538 TGOLN2 0 genome.wustl.edu 37 2 85554313 85554313 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 85554313 85554313 T C SNP TGOLN2 ENST00000377386 human ensembl 74_37 -1 known missense c.542 p.K181R 0.000 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 937 1 0.10661 568 40 6.57895 MAT2A 0 genome.wustl.edu 37 2 85769744 85769744 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 85769744 85769744 T C SNP MAT2A ENST00000306434 human ensembl 74_37 +1 known silent c.825 p.G275 1.000 pfam_S-AdoMet_synt_C,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase pfam_S-AdoMet_synt_C,pfam_S-AdoMet_synt_central,pfam_S-AdoMet_synt_N,superfamily_S-AdoMet_synthetase_sfam,pirsf_S-AdoMet_synthetase,tigrfam_S-AdoMet_synthetase - no_errors MAT2A HGNC ENSG00000168906 61 0 0 46 12 20.6897 ANKRD20A8P 0 genome.wustl.edu 37 2 95513778 95513778 + RNA SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 95513778 95513778 A T SNP ANKRD20A8P ENST00000432432 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ANKRD20A8P HGNC ENSG00000229089 651 0 0 431 128 22.898 CNNM4 0 genome.wustl.edu 37 2 97474358 97474358 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 97474358 97474358 G A SNP CNNM4 ENST00000377075 human ensembl 74_37 +1 known missense c.2009 p.R670H 0.987 superfamily_cNMP-bd-like pfam_DUF21,pfam_CBS_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNNM4 HGNC ENSG00000158158 116 1 0.854701 40 16 28.5714 TMEM131 0 genome.wustl.edu 37 2 98411544 98411544 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 98411544 98411544 G A SNP TMEM131 ENST00000186436 human ensembl 74_37 -1 known missense c.3235 p.R1079W 1.000 NULL pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 81 0 0 36 16 30.7692 SDCBP2 0 genome.wustl.edu 37 20 1298987 1298987 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 1298987 1298987 A C SNP SDCBP2 ENST00000339987 human ensembl 74_37 -1 known missense c.200 p.L67R 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SDCBP2 HGNC ENSG00000125775 156 0 0 60 28 31.8182 SIRPG 0 genome.wustl.edu 37 20 1616978 1616978 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 1616978 1616978 T C SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.604 p.S202G 0.002 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 185 0 0 60 48 44.4444 SIRPG 0 genome.wustl.edu 37 20 1629991 1629991 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 1629991 1629991 C T SNP SIRPG ENST00000303415 human ensembl 74_37 -1 known missense c.137 p.G46E 0.069 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPG HGNC ENSG00000089012 105 0 0 65 30 31.5789 KIF16B 0 genome.wustl.edu 37 20 16360087 16360087 + Missense_Mutation SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 16360087 16360087 C G SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known missense c.2560 p.V854L 0.957 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 238 0 0 155 10 6.06061 RRBP1 0 genome.wustl.edu 37 20 17640875 17640875 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 17640875 17640875 G C SNP RRBP1 ENST00000246043 human ensembl 74_37 -1 known missense c.278 p.T93S 0.396 pfam_Rib_rcpt_KP pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom - no_errors RRBP1 HGNC ENSG00000125844 29 0 0 14 7 33.3333 C20orf26 0 genome.wustl.edu 37 20 20144799 20144799 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 20144799 20144799 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.1132 p.R378C 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 146 0 0 63 33 34.375 RALGAPA2 0 genome.wustl.edu 37 20 20552182 20552182 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 20552182 20552182 G A SNP RALGAPA2 ENST00000202677 human ensembl 74_37 -1 known missense c.3076 p.R1026C 1.000 superfamily_ARM-type_fold pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA2 HGNC ENSG00000188559 45 0 0 17 14 45.1613 CST2 0 genome.wustl.edu 37 20 23805952 23805952 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 23805952 23805952 G A SNP CST2 ENST00000304725 human ensembl 74_37 -1 known silent c.237 p.G79 0.010 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 221 0 0 128 18 12.3288 ZNF343 0 genome.wustl.edu 37 20 2465247 2465247 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 2465247 2465247 A G SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known silent c.360 p.C120 0.992 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF343 HGNC ENSG00000088876 143 0 0 62 22 26.1905 ACSS1 0 genome.wustl.edu 37 20 24988531 24988531 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 24988531 24988531 C T SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.1937 p.R646Q 1.000 tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 97 0 0 47 25 34.7222 NOP56 0 genome.wustl.edu 37 20 2633534 2633534 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 2633534 2633534 T G SNP NOP56 ENST00000329276 human ensembl 74_37 +1 known missense c.50 p.L17R 1.000 pfam_NOP5_N pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP56 HGNC ENSG00000101361 34 0 0 9 2 18.1818 TPX2 0 genome.wustl.edu 37 20 30370194 30370194 + Splice_Site SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 30370194 30370194 G A SNP TPX2 ENST00000340513 human ensembl 74_37 +1 known splice_site c.1304+1 e10+1 1.000 - - - no_errors TPX2 HGNC ENSG00000088325 134 0 0 50 32 39.0244 DDRGK1 0 genome.wustl.edu 37 20 3171871 3171871 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 3171871 3171871 C T SNP DDRGK1 ENST00000354488 human ensembl 74_37 -1 known missense c.743 p.R248H 1.000 pfam_DDRGK_dom-contain pfam_DDRGK_dom-contain - no_errors DDRGK1 HGNC ENSG00000198171 49 0 0 24 12 33.3333 ZNF341 0 genome.wustl.edu 37 20 32345064 32345064 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 32345064 32345064 C T SNP ZNF341 ENST00000375200 human ensembl 74_37 +1 known silent c.852 p.S284 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF341 HGNC ENSG00000131061 300 0 0 115 53 31.5476 PROCR 0 genome.wustl.edu 37 20 33764236 33764236 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 33764236 33764236 G A SNP PROCR ENST00000216968 human ensembl 74_37 +1 known silent c.588 p.A196 0.000 pfam_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 168 0 0 68 27 28.4211 MMP24 0 genome.wustl.edu 37 20 33862184 33862184 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 33862184 33862184 C T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.1710 p.N570 1.000 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 247 0 0 70 39 35.7798 CEP250 0 genome.wustl.edu 37 20 34067191 34067191 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 34067191 34067191 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.2230 p.R744W 0.998 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 293 0 0 103 37 26.4286 DLGAP4 0 genome.wustl.edu 37 20 35060903 35060903 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 35060903 35060903 T C SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known silent c.783 p.T261 0.434 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 101 0 0 62 5 7.46269 NDRG3 0 genome.wustl.edu 37 20 35293701 35293701 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 35293701 35293701 G A SNP NDRG3 ENST00000349004 human ensembl 74_37 -1 known silent c.696 p.R232 1.000 pfam_Ndr,pfam_AB_hydrolase_1 pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC ENSG00000101079 231 0 0 95 63 39.8734 RBL1 0 genome.wustl.edu 37 20 35689518 35689518 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 35689518 35689518 A G SNP RBL1 ENST00000373664 human ensembl 74_37 -1 known missense c.1238 p.I413T 0.775 pfam_RB_A,superfamily_Cyclin-like pfam_RB_A,pfam_RB_B,pfam_RB_N,pfam_RB_C,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL1 HGNC ENSG00000080839 51 0 0 36 15 29.4118 TGM2 0 genome.wustl.edu 37 20 36759566 36759566 + Silent SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 36759566 36759566 A C SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known silent c.1842 p.P614 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 138 0 0 37 17 31.4815 TOP1 0 genome.wustl.edu 37 20 39726979 39726979 + Splice_Site SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 39726979 39726979 T C SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known splice_site c.975+2 e11+2 1.000 - - - no_errors TOP1 HGNC ENSG00000198900 113 0 0 47 25 34.7222 OSER1 0 genome.wustl.edu 37 20 42826132 42826132 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 42826132 42826132 C T SNP OSER1 ENST00000255174 human ensembl 74_37 -1 known missense c.439 p.V147I 0.000 pfam_DUF776 pfam_DUF776 - no_errors OSER1 HGNC ENSG00000132823 163 0 0 73 40 35.3982 HNF4A 0 genome.wustl.edu 37 20 43034754 43034754 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 43034754 43034754 G A SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.172 p.A58T 0.922 smart_Znf_hrmn_rcpt,pfscan_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 HNF4A HGNC ENSG00000101076 288 1 0.346021 81 73 47.4026 TTPAL 0 genome.wustl.edu 37 20 43108907 43108907 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 43108907 43108907 T C SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known missense c.268 p.F90L 1.000 pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 67 0 0 46 6 11.5385 ADA 0 genome.wustl.edu 37 20 43251662 43251662 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 43251662 43251662 C T SNP ADA ENST00000372874 human ensembl 74_37 -1 known missense c.664 p.E222K 0.000 pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase - no_errors ADA HGNC ENSG00000196839 185 0 0 66 27 29.0323 PABPC1L 0 genome.wustl.edu 37 20 43559190 43559190 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 43559190 43559190 C T SNP PABPC1L ENST00000217073 human ensembl 74_37 +1 known silent c.1062 p.N354 0.979 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 438 0 0 137 77 35.9813 KCNS1 0 genome.wustl.edu 37 20 43726483 43726483 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 43726483 43726483 A G SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known silent c.930 p.I310 0.997 pfam_Ion_trans_dom,prints_K_chnl 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_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 46 0 0 14 6 30 ZNF335 0 genome.wustl.edu 37 20 44596190 44596190 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 44596190 44596190 G A SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known missense c.898 p.P300S 0.026 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 123 0 0 55 35 38.8889 ZMYND8 0 genome.wustl.edu 37 20 45865224 45865224 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 45865224 45865224 G A SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known missense c.2723 p.T908M 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 65 0 0 48 23 32.3944 KCNG1 0 genome.wustl.edu 37 20 49626482 49626482 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 49626482 49626482 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.394 p.R132C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 106 0 0 35 28 44.4444 ZNF217 0 genome.wustl.edu 37 20 52199232 52199232 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 52199232 52199232 A G SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.134 p.V45A 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 136 0 0 64 31 32.6316 CSTF1 0 genome.wustl.edu 37 20 54978601 54978601 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 54978601 54978601 G A SNP CSTF1 ENST00000217109 human ensembl 74_37 +1 known missense c.1114 p.D372N 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 100 0 0 45 18 28.5714 ZNF831 0 genome.wustl.edu 37 20 57766849 57766849 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 57766849 57766849 C T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel silent c.775 p.L259 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 147 0 0 49 18 26.8657 LRRN4 0 genome.wustl.edu 37 20 6022558 6022558 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 6022558 6022558 C T SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known missense c.1333 p.V445I 0.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 138 0 0 51 21 29.1667 HRH3 0 genome.wustl.edu 37 20 60791216 60791216 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 60791216 60791216 T G SNP HRH3 ENST00000317393 human ensembl 74_37 -1 known missense c.1184 p.E395A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 69 0 0 16 7 30.4348 HRH3 0 genome.wustl.edu 37 20 60794884 60794884 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 60794884 60794884 G A SNP HRH3 ENST00000317393 human ensembl 74_37 -1 known missense c.143 p.T48M 1.000 prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H3_rcpt,prints_GPCR_Rhodpsn,prints_Musac_Ach_rcpt - no_errors HRH3 HGNC ENSG00000101180 53 0 0 15 11 42.3077 LAMA5 0 genome.wustl.edu 37 20 60887363 60887363 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 60887363 60887363 C T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.9370 p.A3124T 0.015 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 34 0 0 10 5 33.3333 LAMA5 0 genome.wustl.edu 37 20 60904862 60904862 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 60904862 60904862 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.4090 p.R1364C 1.000 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 46 0 0 10 10 50 LAMA5 0 genome.wustl.edu 37 20 60927304 60927304 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 60927304 60927304 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.681 p.N227 0.186 pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 49 0 0 12 16 57.1429 YTHDF1 0 genome.wustl.edu 37 20 61834233 61834233 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 61834233 61834233 G A SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known silent c.1059 p.N353 0.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 153 0 0 64 38 37.2549 PTK6 0 genome.wustl.edu 37 20 62163960 62163960 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 62163960 62163960 A G SNP PTK6 ENST00000217185 human ensembl 74_37 -1 known missense c.751 p.Y251H 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_2,pfam_SH3_domain,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 PTK6 HGNC ENSG00000101213 107 0 0 37 16 30.1887 HELZ2 0 genome.wustl.edu 37 20 62194113 62194113 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 62194113 62194113 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.6062 p.S2021N 0.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 35 0 0 5 3 37.5 HELZ2 0 genome.wustl.edu 37 20 62194212 62194212 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 62194212 62194212 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.5963 p.R1988H 0.000 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 43 0 0 5 3 37.5 HELZ2 0 genome.wustl.edu 37 20 62194551 62194551 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 62194551 62194551 C T SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known missense c.5624 p.R1875Q 0.005 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 23 0 0 7 2 22.2222 ZNF512B 0 genome.wustl.edu 37 20 62597930 62597930 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 62597930 62597930 T C SNP ZNF512B ENST00000217130 human ensembl 74_37 -1 known missense c.598 p.I200V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 299 0 0 129 60 31.746 TCEA2 0 genome.wustl.edu 37 20 62701181 62701181 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 62701181 62701181 T G SNP TCEA2 ENST00000395053 human ensembl 74_37 +1 known missense c.524 p.L175R 1.000 pirsf_TF_IIS-rel pfam_TFIIS_N,pfam_TFIIS_cen_dom,superfamily_TFIIS_N,superfamily_TFIIS_cen_dom,smart_TFIIS/CRSP70_N_sub,pirsf_TF_IIS-rel - no_errors TCEA2 HGNC ENSG00000171703 109 0 0 41 7 14.5833 TMX4 0 genome.wustl.edu 37 20 7990877 7990877 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 7990877 7990877 C A SNP TMX4 ENST00000246024 human ensembl 74_37 -1 known missense c.262 p.V88L 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TMX4 HGNC ENSG00000125827 133 0 0 59 18 23.3766 PLCB1 0 genome.wustl.edu 37 20 8628584 8628584 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 8628584 8628584 C T SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.502 p.R168C 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 125 0 0 58 21 26.5823 ADAMTS1 0 genome.wustl.edu 37 21 28213404 28213404 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 28213404 28213404 C T SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known missense c.1291 p.A431T 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 150 0 0 69 39 36.1111 KRTAP23-1 0 genome.wustl.edu 37 21 31720883 31720883 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 31720883 31720883 G A SNP KRTAP23-1 ENST00000334160 human ensembl 74_37 -1 known silent c.42 p.S14 0.004 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP23-1 HGNC ENSG00000186980 162 0 0 71 26 26.8041 TIAM1 0 genome.wustl.edu 37 21 32513685 32513685 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 32513685 32513685 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.3613 p.A1205T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 160 0 0 73 33 31.1321 SCAF4 0 genome.wustl.edu 37 21 33074095 33074095 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 33074095 33074095 G A SNP SCAF4 ENST00000286835 human ensembl 74_37 -1 known silent c.594 p.G198 0.975 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 65 0 0 21 6 22.2222 TCP10L 0 genome.wustl.edu 37 21 33951127 33951127 + Silent SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 33951127 33951127 A T SNP TCP10L ENST00000300258 human ensembl 74_37 -1 known silent c.375 p.A125 0.008 NULL NULL - no_errors TCP10L HGNC ENSG00000242220 197 0 0 107 21 16.4062 SON 0 genome.wustl.edu 37 21 34922824 34922824 + Silent SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 34922824 34922824 G C SNP SON ENST00000356577 human ensembl 74_37 +1 known silent c.1287 p.G429 1.000 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_dsRNA-bd_dom - no_errors SON HGNC ENSG00000159140 115 0 0 47 30 38.961 DONSON 0 genome.wustl.edu 37 21 34951683 34951683 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 34951683 34951683 G A SNP DONSON ENST00000453626 human ensembl 74_37 -1 putative missense c.1391 p.A464V 0.202 NULL NULL - no_errors DONSON HGNC ENSG00000159147 165 0 0 116 10 7.93651 KCNE1 0 genome.wustl.edu 37 21 35821821 35821821 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 35821821 35821821 T C SNP KCNE1 ENST00000337385 human ensembl 74_37 -1 known missense c.112 p.S38G 0.000 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE1 pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE1,prints_K_chnl_volt-dep_bsu_KCNE - no_errors KCNE1 HGNC ENSG00000180509 96 0 0 46 3 6.12245 MORC3 0 genome.wustl.edu 37 21 37709238 37709238 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 37709238 37709238 A G SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.179 p.H60R 0.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 149 0 0 65 28 30.1075 BRWD1 0 genome.wustl.edu 37 21 40570880 40570880 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 40570880 40570880 T A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.5462 p.D1821V 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 194 0 0 95 63 39.8734 BACE2 0 genome.wustl.edu 37 21 42629207 42629207 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 42629207 42629207 C T SNP BACE2 ENST00000330333 human ensembl 74_37 +1 known silent c.1257 p.F419 0.987 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Aspartic_peptidase,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 90 0 0 29 11 27.5 RRP1 0 genome.wustl.edu 37 21 45217542 45217542 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 45217542 45217542 G A SNP RRP1 ENST00000497547 human ensembl 74_37 +1 known missense c.583 p.D195N 0.074 pfam_Nop52 pfam_Nop52 - no_errors RRP1 HGNC ENSG00000160214 242 0 0 58 35 37.6344 MCM3AP 0 genome.wustl.edu 37 21 47655291 47655291 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 47655291 47655291 C T SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.5834 p.C1945Y 0.030 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 67 0 0 46 3 6.12245 PRMT2 0 genome.wustl.edu 37 21 48063467 48063467 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 48063467 48063467 C T SNP PRMT2 ENST00000355680 human ensembl 74_37 +1 known silent c.60 p.C20 0.000 superfamily_SH3_domain pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 213 0 0 81 9 10 CECR1 0 genome.wustl.edu 37 22 17690430 17690430 + Silent SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 17690430 17690430 C G SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known silent c.138 p.L46 0.001 pfam_A_deaminase_N,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 70 0 0 38 6 13.6364 SLC25A1 0 genome.wustl.edu 37 22 19163996 19163996 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 19163996 19163996 C T SNP SLC25A1 ENST00000215882 human ensembl 74_37 -1 known silent c.759 p.A253 0.001 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A1 HGNC ENSG00000100075 116 0 0 43 27 38.5714 CCDC116 0 genome.wustl.edu 37 22 21988331 21988331 + Silent SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 21988331 21988331 A T SNP CCDC116 ENST00000292779 human ensembl 74_37 +1 known silent c.93 p.P31 0.021 NULL NULL - no_errors CCDC116 HGNC ENSG00000161180 175 0 0 73 9 10.9756 GGTLC2 0 genome.wustl.edu 37 22 22990111 22990111 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 22990111 22990111 C T SNP GGTLC2 ENST00000448514 human ensembl 74_37 +1 known missense c.578 p.A193V 0.529 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGTLC2 HGNC ENSG00000100121 48 0 0 28 9 24.3243 MMP11 0 genome.wustl.edu 37 22 24122628 24122628 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 24122628 24122628 A C SNP MMP11 ENST00000215743 human ensembl 74_37 +1 known missense c.421 p.T141P 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP11 HGNC ENSG00000099953 147 0 0 35 16 31.3725 CABIN1 0 genome.wustl.edu 37 22 24468323 24468323 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 24468323 24468323 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known missense c.2495 p.A832V 0.973 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 96 0 0 34 11 24.4444 MYO18B 0 genome.wustl.edu 37 22 26422847 26422847 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 26422847 26422847 C T SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known silent c.6907 p.L2303 0.004 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 53 0 0 28 3 9.67742 MYO18B 0 genome.wustl.edu 37 22 26423136 26423136 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 26423136 26423136 T G SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7196 p.L2399R 0.567 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 126 0 0 78 17 17.8947 HPS4 0 genome.wustl.edu 37 22 26854542 26854542 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 26854542 26854542 T C SNP HPS4 ENST00000398141 human ensembl 74_37 -1 known missense c.1754 p.Y585C 1.000 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 51 0 0 24 8 25 MN1 0 genome.wustl.edu 37 22 28194644 28194644 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 28194644 28194644 C T SNP MN1 ENST00000302326 human ensembl 74_37 -1 known missense c.1888 p.A630T 1.000 NULL NULL - no_errors MN1 HGNC ENSG00000169184 23 0 0 2 3 60 ZNRF3 0 genome.wustl.edu 37 22 29444421 29444421 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 29444421 29444421 C T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known silent c.957 p.C319 0.960 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 104 0 0 37 13 26 RFPL1 0 genome.wustl.edu 37 22 29838103 29838103 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 29838103 29838103 G A SNP RFPL1 ENST00000354373 human ensembl 74_37 +1 known missense c.946 p.A316T 0.017 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL1 HGNC ENSG00000128250 97 0 0 53 21 28.3784 NEFH 0 genome.wustl.edu 37 22 29879408 29879408 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 29879408 29879408 G A SNP NEFH ENST00000310624 human ensembl 74_37 +1 known missense c.928 p.A310T 1.000 pfam_IF pfam_IF,pfam_DUF1388 - no_errors NEFH HGNC ENSG00000100285 387 0 0 104 54 34.1772 MTMR3 0 genome.wustl.edu 37 22 30403132 30403132 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 30403132 30403132 G A SNP MTMR3 ENST00000401950 human ensembl 74_37 +1 known missense c.701 p.R234H 1.000 pfam_Myotubularin-like_Pase_dom pfam_Myotubularin-like_Pase_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 73 0 0 37 15 28.8462 SFI1 0 genome.wustl.edu 37 22 32010792 32010792 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 32010792 32010792 C T SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.3014 p.A1005V 0.001 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 88 0 0 18 6 25 SLC5A1 0 genome.wustl.edu 37 22 32498181 32498181 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 32498181 32498181 T C SNP SLC5A1 ENST00000266088 human ensembl 74_37 +1 known missense c.1622 p.I541T 0.053 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 187 0 0 123 10 7.5188 SLC5A4 0 genome.wustl.edu 37 22 32620257 32620257 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 32620257 32620257 T C SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known silent c.1662 p.V554 0.768 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 52 0 0 38 5 11.6279 RTCB 0 genome.wustl.edu 37 22 32792083 32792083 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 32792083 32792083 G A SNP RTCB ENST00000216038 human ensembl 74_37 -1 known missense c.968 p.S323F 1.000 pfam_RtcB,superfamily_RtcB pfam_RtcB,superfamily_RtcB - no_errors RTCB HGNC ENSG00000100220 612 0 0 272 16 5.55556 MAFF 0 genome.wustl.edu 37 22 38610598 38610598 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 38610598 38610598 G A SNP MAFF ENST00000338483 human ensembl 74_37 +1 known missense c.208 p.V70M 1.000 pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAFF HGNC ENSG00000185022 18 0 0 10 5 33.3333 ENSG00000244627 0 genome.wustl.edu 37 22 38757474 38757474 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 38757474 38757474 A G SNP ENSG00000244627 ENST00000381645 human ensembl 74_37 -1 known rna NULL NULL 0.143 - - - no_errors RP3-449O17.1 Clone_based_vega_gene ENSG00000244627 109 0 0 41 7 14.5833 GTPBP1 0 genome.wustl.edu 37 22 39122294 39122294 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 39122294 39122294 T C SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.1250 p.L417P 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel - no_errors GTPBP1 HGNC ENSG00000100226 75 0 0 18 16 47.0588 CACNA1I 0 genome.wustl.edu 37 22 40068244 40068244 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 40068244 40068244 C A SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known missense c.4598 p.T1533N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 320 0 0 124 50 28.7356 GRAP2 0 genome.wustl.edu 37 22 40366928 40366928 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 40366928 40366928 C T SNP GRAP2 ENST00000344138 human ensembl 74_37 +1 known missense c.833 p.A278V 0.999 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain - no_errors GRAP2 HGNC ENSG00000100351 72 0 0 41 15 26.7857 TNRC6B 0 genome.wustl.edu 37 22 40681709 40681709 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 40681709 40681709 G A SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.3643 p.V1215M 0.996 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 243 0 0 106 71 40.113 EP300 0 genome.wustl.edu 37 22 41566520 41566520 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 41566520 41566520 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.4397 p.W1466L 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 112 0 0 68 19 21.8391 ENSG00000235513 0 genome.wustl.edu 37 22 41609869 41609869 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 41609869 41609869 T C SNP ENSG00000235513 ENST00000441316 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP4-756G23.5 Clone_based_vega_gene ENSG00000235513 249 0 0 101 29 22.3077 TTLL1 0 genome.wustl.edu 37 22 43460219 43460219 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 43460219 43460219 C T SNP TTLL1 ENST00000266254 human ensembl 74_37 -1 known silent c.615 p.T205 0.051 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL1 HGNC ENSG00000100271 103 0 0 62 4 6.06061 TTLL12 0 genome.wustl.edu 37 22 43576915 43576915 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 43576915 43576915 G A SNP TTLL12 ENST00000216129 human ensembl 74_37 -1 known missense c.379 p.R127C 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL12 HGNC ENSG00000100304 91 0 0 27 17 38.6364 PKDREJ 0 genome.wustl.edu 37 22 46657010 46657010 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 46657010 46657010 A T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.2210 p.L737H 0.645 pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 177 0 0 104 37 26.2411 BRD1 0 genome.wustl.edu 37 22 50217867 50217867 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 50217867 50217867 G A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known silent c.99 p.Y33 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 215 0 0 83 40 32.5203 CRELD2 0 genome.wustl.edu 37 22 50313464 50313464 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 50313464 50313464 A G SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.299 p.H100R 0.693 NULL pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 36 0 0 18 3 14.2857 IL17REL 0 genome.wustl.edu 37 22 50439591 50439591 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 50439591 50439591 G A SNP IL17REL ENST00000341280 human ensembl 74_37 -1 known missense c.29 p.T10M 0.362 NULL NULL - no_errors IL17REL HGNC ENSG00000188263 24 0 0 7 3 30 CHKB 0 genome.wustl.edu 37 22 51017908 51017908 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 51017908 51017908 C A SNP CHKB ENST00000406938 human ensembl 74_37 -1 known missense c.1060 p.G354C 1.000 superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom - no_errors CHKB HGNC ENSG00000100288 51 0 0 17 4 19.0476 MAPK8IP2 0 genome.wustl.edu 37 22 51048208 51048208 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 51048208 51048208 C T SNP MAPK8IP2 ENST00000008876 human ensembl 74_37 +1 known silent c.1485 p.T495 0.000 smart_PTB/PI_dom pfam_PTB/PI_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC ENSG00000008735 38 0 0 12 3 20 FANCD2 0 genome.wustl.edu 37 3 10084268 10084268 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 10084268 10084268 T C SNP FANCD2 ENST00000287647 human ensembl 74_37 +1 known missense c.809 p.L270S 0.988 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 271 0 0 180 15 7.69231 RPL24 0 genome.wustl.edu 37 3 101399981 101399981 + Nonstop_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 101399981 101399981 A G SNP RPL24 ENST00000394077 human ensembl 74_37 -1 known nonstop c.472 p.*158Q 1.000 NULL pfam_Ribosomal_L24e_rel,smart_TRASH_dom - no_errors RPL24 HGNC ENSG00000114391 258 0 0 108 24 18.1818 CCDC37 0 genome.wustl.edu 37 3 126137556 126137556 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 126137556 126137556 G A SNP CCDC37 ENST00000393425 human ensembl 74_37 +1 known missense c.592 p.A198T 0.042 NULL superfamily_SuperAg_toxin_C - no_errors CCDC37 HGNC ENSG00000163885 18 0 0 6 8 57.1429 PLXNA1 0 genome.wustl.edu 37 3 126733136 126733136 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 126733136 126733136 A G SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.2522 p.H841R 1.000 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 19 0 0 5 4 44.4444 PLXNA1 0 genome.wustl.edu 37 3 126741635 126741635 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 126741635 126741635 A G SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.4336 p.T1446A 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 273 0 0 94 34 26.5625 COPG1 0 genome.wustl.edu 37 3 128979638 128979638 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 128979638 128979638 G A SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known silent c.1116 p.S372 0.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 135 0 0 42 22 34.375 BFSP2 0 genome.wustl.edu 37 3 133185682 133185682 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 133185682 133185682 A G SNP BFSP2 ENST00000302334 human ensembl 74_37 +1 known missense c.902 p.E301G 0.025 pfam_IF pfam_IF,prints_Keratin_I - no_errors BFSP2 HGNC ENSG00000170819 109 0 0 34 12 26.087 BFSP2 0 genome.wustl.edu 37 3 133191257 133191257 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 133191257 133191257 C T SNP BFSP2 ENST00000302334 human ensembl 74_37 +1 known silent c.1092 p.G364 1.000 pfam_IF,prints_Keratin_I pfam_IF,prints_Keratin_I - no_errors BFSP2 HGNC ENSG00000170819 48 0 0 17 7 29.1667 EPHB1 0 genome.wustl.edu 37 3 134960032 134960032 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 134960032 134960032 G A SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.2389 p.A797T 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,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 258 0 0 96 64 40 PRR23C 0 genome.wustl.edu 37 3 138762997 138762997 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 138762997 138762997 C T SNP PRR23C ENST00000413199 human ensembl 74_37 -1 known missense c.466 p.E156K 0.000 pfam_UPF0572 pfam_UPF0572 - no_errors PRR23C HGNC ENSG00000233701 44 0 0 12 5 29.4118 CHST2 0 genome.wustl.edu 37 3 142840223 142840223 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 142840223 142840223 G A SNP CHST2 ENST00000309575 human ensembl 74_37 +1 known missense c.565 p.E189K 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST2 HGNC ENSG00000175040 145 0 0 52 24 31.5789 TSC22D2 0 genome.wustl.edu 37 3 150128353 150128353 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 150128353 150128353 G C SNP TSC22D2 ENST00000361875 human ensembl 74_37 +1 known missense c.1216 p.A406P 0.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D2 HGNC ENSG00000196428 13 0 0 7 4 36.3636 GPR87 0 genome.wustl.edu 37 3 151012788 151012788 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 151012788 151012788 G A SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known silent c.246 p.N82 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 102 0 0 18 51 73.913 MED12L 0 genome.wustl.edu 37 3 151150579 151150579 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 151150579 151150579 C A SNP MED12L ENST00000474524 human ensembl 74_37 +1 known missense c.6425 p.P2142H 0.976 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 40 0 0 28 3 9.67742 SHOX2 0 genome.wustl.edu 37 3 157815997 157815997 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 157815997 157815997 G A SNP SHOX2 ENST00000389589 human ensembl 74_37 -1 known missense c.887 p.A296V 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors SHOX2 HGNC ENSG00000168779 207 0 0 109 59 35.119 DAZL 0 genome.wustl.edu 37 3 16638359 16638359 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 16638359 16638359 A G SNP DAZL ENST00000399444 human ensembl 74_37 -1 known silent c.396 p.N132 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZL HGNC ENSG00000092345 170 0 0 81 40 33.0579 ACTRT3 0 genome.wustl.edu 37 3 169486060 169486060 + Silent SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 169486060 169486060 T A SNP ACTRT3 ENST00000330368 human ensembl 74_37 -1 known silent c.279 p.L93 0.092 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT3 HGNC ENSG00000184378 106 0 0 53 4 7.01754 MFN1 0 genome.wustl.edu 37 3 179085364 179085364 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 179085364 179085364 G A SNP MFN1 ENST00000263969 human ensembl 74_37 +1 known silent c.891 p.Q297 1.000 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN1 HGNC ENSG00000171109 51 0 0 36 2 5.26316 PEX5L 0 genome.wustl.edu 37 3 179754568 179754568 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 179754568 179754568 G A SNP PEX5L ENST00000474909 human ensembl 74_37 -1 known rna NULL NULL 0.642 - - - no_errors PEX5L HGNC ENSG00000114757 19 0 0 5 5 50 ABCC5 0 genome.wustl.edu 37 3 183665113 183665113 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 183665113 183665113 T C SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known missense c.3413 p.Q1138R 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 ABCC5 HGNC ENSG00000114770 37 0 0 14 10 41.6667 CHRD 0 genome.wustl.edu 37 3 184104344 184104344 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 184104344 184104344 T G SNP CHRD ENST00000204604 human ensembl 74_37 +1 known missense c.1997 p.V666G 0.000 pirsf_Chordin pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C - no_errors CHRD HGNC ENSG00000090539 20 0 0 2 4 66.6667 C3orf65 0 genome.wustl.edu 37 3 185434390 185434390 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 185434390 185434390 T C SNP C3orf65 ENST00000296270 human ensembl 74_37 +1 known missense c.223 p.Y75H 0.000 NULL NULL - no_errors C3orf65 HGNC ENSG00000163915 60 0 0 32 19 37.2549 MB21D2 0 genome.wustl.edu 37 3 192516463 192516463 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 192516463 192516463 G A SNP MB21D2 ENST00000392452 human ensembl 74_37 -1 known silent c.1188 p.H396 0.996 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MB21D2 HGNC ENSG00000180611 61 0 0 45 12 21.0526 ATP13A3 0 genome.wustl.edu 37 3 194158117 194158117 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 194158117 194158117 A G SNP ATP13A3 ENST00000256031 human ensembl 74_37 -1 known missense c.1922 p.V641A 0.980 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A3 HGNC ENSG00000133657 112 0 0 66 28 29.7872 TNK2 0 genome.wustl.edu 37 3 195594422 195594422 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 195594422 195594422 G A SNP TNK2 ENST00000381916 human ensembl 74_37 -1 known missense c.2936 p.A979V 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 21 0 0 10 6 37.5 SENP5 0 genome.wustl.edu 37 3 196613205 196613205 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 196613205 196613205 A G SNP SENP5 ENST00000323460 human ensembl 74_37 +1 known missense c.1153 p.M385V 0.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP5 HGNC ENSG00000119231 75 0 0 51 37 42.0455 ZNF385D 0 genome.wustl.edu 37 3 21467097 21467097 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 21467097 21467097 C T SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.739 p.A247T 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 98 0 0 46 22 32.3529 HMGB1P5 0 genome.wustl.edu 37 3 22423959 22423959 + RNA SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 22423959 22423959 G C SNP HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors HMGB1P5 HGNC ENSG00000132967 57 0 0 35 8 18.6047 SLC4A7 0 genome.wustl.edu 37 3 27427494 27427494 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 27427494 27427494 C T SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known silent c.3381 p.V1127 0.399 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 214 0 0 76 41 35.0427 OSBPL10 0 genome.wustl.edu 37 3 31774766 31774766 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 31774766 31774766 A C SNP OSBPL10 ENST00000396556 human ensembl 74_37 -1 known missense c.1078 p.S360A 0.001 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL10 HGNC ENSG00000144645 150 0 0 63 33 34.375 ITGA9 0 genome.wustl.edu 37 3 37567542 37567542 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 37567542 37567542 C T SNP ITGA9 ENST00000264741 human ensembl 74_37 +1 known silent c.1353 p.S451 0.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA9 HGNC ENSG00000144668 88 0 0 43 15 25.8621 SCN10A 0 genome.wustl.edu 37 3 38740025 38740025 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 38740025 38740025 T C SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known silent c.4686 p.S1562 0.302 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 145 0 0 84 5 5.61798 SCN11A 0 genome.wustl.edu 37 3 38966983 38966983 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 38966983 38966983 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known missense c.635 p.P212L 0.006 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 85 0 0 41 18 30.5085 TGM4 0 genome.wustl.edu 37 3 44943294 44943294 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 44943294 44943294 C T SNP TGM4 ENST00000296125 human ensembl 74_37 +1 known missense c.842 p.A281V 0.104 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC ENSG00000163810 56 0 0 33 10 23.2558 LARS2 0 genome.wustl.edu 37 3 45554625 45554625 + Splice_Site SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 45554625 45554625 A C SNP LARS2 ENST00000265537 human ensembl 74_37 +1 known splice_site c.1761-2 e14-2 1.000 - - - no_errors LARS2 HGNC ENSG00000011376 211 0 0 69 33 32.3529 SETD2 0 genome.wustl.edu 37 3 47098830 47098830 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 47098830 47098830 T C SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known silent c.6444 p.S2148 0.997 NULL pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 236 0 0 136 15 9.93377 SMARCC1 0 genome.wustl.edu 37 3 47716999 47716999 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 47716999 47716999 C T SNP SMARCC1 ENST00000254480 human ensembl 74_37 -1 known missense c.1805 p.R602H 1.000 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC1 HGNC ENSG00000173473 63 0 0 24 13 35.1351 DHX30 0 genome.wustl.edu 37 3 47887826 47887826 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 47887826 47887826 C T SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.1264 p.R422W 1.000 NULL pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX30 HGNC ENSG00000132153 221 0 0 70 40 36.3636 CELSR3 0 genome.wustl.edu 37 3 48694142 48694142 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 48694142 48694142 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.4388 p.P1463L 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 13 0 0 5 3 37.5 P4HTM 0 genome.wustl.edu 37 3 49042356 49042356 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 49042356 49042356 T C SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.950 p.V317A 0.998 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 156 0 0 58 37 38.9474 P4HTM 0 genome.wustl.edu 37 3 49042445 49042445 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 49042445 49042445 G A SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.1039 p.A347T 0.976 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 111 0 0 45 29 39.1892 DAG1 0 genome.wustl.edu 37 3 49547944 49547944 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 49547944 49547944 G A SNP DAG1 ENST00000469139 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors DAG1 HGNC ENSG00000173402 127 0 0 55 22 28.5714 MST1 0 genome.wustl.edu 37 3 49724649 49724649 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 49724649 49724649 A G SNP MST1 ENST00000545762 human ensembl 74_37 -1 known missense c.383 p.V128A 0.892 NULL pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app - no_errors MST1 HGNC ENSG00000173531 87 0 0 32 12 27.2727 UBA7 0 genome.wustl.edu 37 3 49846865 49846865 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 49846865 49846865 A G SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known silent c.2121 p.G707 0.125 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 227 0 0 78 44 36.0656 RASSF1 0 genome.wustl.edu 37 3 50368024 50368024 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 50368024 50368024 G A SNP RASSF1 ENST00000357043 human ensembl 74_37 -1 known silent c.1023 p.C341 0.996 pfscan_SARAH_dom pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF1 HGNC ENSG00000068028 189 0 0 78 7 8.23529 PARP3 0 genome.wustl.edu 37 3 51978458 51978458 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 51978458 51978458 A G SNP PARP3 ENST00000398755 human ensembl 74_37 +1 known missense c.386 p.K129R 0.996 pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP3 HGNC ENSG00000041880 299 0 0 92 34 26.9841 DNAH1 0 genome.wustl.edu 37 3 52433185 52433185 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 52433185 52433185 A G SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known missense c.12409 p.I4137V 0.997 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 688 1 0.145138 254 155 37.8973 EDEM1 0 genome.wustl.edu 37 3 5244703 5244703 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 5244703 5244703 C T SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known missense c.911 p.A304V 0.999 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM1 HGNC ENSG00000134109 186 0 0 82 53 39.2593 RFT1 0 genome.wustl.edu 37 3 53145912 53145912 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 53145912 53145912 A C SNP RFT1 ENST00000296292 human ensembl 74_37 -1 known missense c.709 p.W237G 1.000 pfam_RFT1 pfam_RFT1 - no_errors RFT1 HGNC ENSG00000163933 116 0 0 91 25 21.5517 LRIG1 0 genome.wustl.edu 37 3 66467669 66467669 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 66467669 66467669 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known silent c.387 p.S129 0.013 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,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 LRIG1 HGNC ENSG00000144749 406 0 0 127 76 37.4384 ROBO1 0 genome.wustl.edu 37 3 78766489 78766489 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 78766489 78766489 C T SNP ROBO1 ENST00000464233 human ensembl 74_37 -1 known missense c.853 p.A285T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO1 HGNC ENSG00000169855 269 0 0 93 59 38.8158 LHFPL4 0 genome.wustl.edu 37 3 9547804 9547804 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 9547804 9547804 C T SNP LHFPL4 ENST00000287585 human ensembl 74_37 -1 known missense c.490 p.G164R 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL4 HGNC ENSG00000156959 153 0 0 53 22 29.3333 FILIP1L 0 genome.wustl.edu 37 3 99568802 99568802 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 99568802 99568802 G A SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.1718 p.A573V 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 113 0 0 65 35 35 FILIP1L 0 genome.wustl.edu 37 3 99569758 99569758 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 99569758 99569758 G T SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known silent c.762 p.T254 0.808 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 204 0 0 148 40 21.2766 MTTP 0 genome.wustl.edu 37 4 100540226 100540226 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 100540226 100540226 T C SNP MTTP ENST00000265517 human ensembl 74_37 +1 known silent c.2313 p.Y771 1.000 NULL pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 230 0 0 89 43 32.5758 FGFRL1 0 genome.wustl.edu 37 4 1018157 1018157 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 1018157 1018157 C T SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known silent c.777 p.D259 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 148 0 0 50 4 7.40741 CXXC4 0 genome.wustl.edu 37 4 105412536 105412536 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 105412536 105412536 C A SNP CXXC4 ENST00000394767 human ensembl 74_37 -1 known missense c.424 p.A142S 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors CXXC4 HGNC ENSG00000168772 23 0 0 12 6 33.3333 PPA2 0 genome.wustl.edu 37 4 106345398 106345398 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 106345398 106345398 A T SNP PPA2 ENST00000357415 human ensembl 74_37 -1 known missense c.655 p.L219I 1.000 pfam_Pyrophosphatase,superfamily_Pyrophosphatase pfam_Pyrophosphatase,superfamily_Pyrophosphatase - no_errors PPA2 HGNC ENSG00000138777 157 0 0 102 8 7.27273 SEC24B 0 genome.wustl.edu 37 4 110448544 110448544 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 110448544 110448544 C T SNP SEC24B ENST00000265175 human ensembl 74_37 +1 known missense c.3032 p.A1011V 1.000 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC ENSG00000138802 112 0 0 83 31 27.193 EGF 0 genome.wustl.edu 37 4 110915959 110915959 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 110915959 110915959 T C SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.2928 p.C976 0.984 pirsf_Pro-epidermal_GF,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt - no_errors EGF HGNC ENSG00000138798 153 0 0 69 27 28.125 ANK2 0 genome.wustl.edu 37 4 114254212 114254212 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 114254212 114254212 C A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.3227 p.P1076H 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 ANK2 HGNC ENSG00000145362 151 1 0.657895 70 35 33.3333 UGT8 0 genome.wustl.edu 37 4 115597177 115597177 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 115597177 115597177 T C SNP UGT8 ENST00000310836 human ensembl 74_37 +1 known silent c.1359 p.R453 0.914 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT8 HGNC ENSG00000174607 182 0 0 114 12 9.52381 NT5C3AP1 0 genome.wustl.edu 37 4 118496740 118496740 + RNA SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 118496740 118496740 T A SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 129 0 0 66 30 31.25 PRDM5 0 genome.wustl.edu 37 4 121843735 121843735 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 121843735 121843735 A G SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known missense c.29 p.F10S 1.000 smart_SET_dom,pirsf_Znf_PRDM5 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 44 0 0 10 3 23.0769 BBS12 0 genome.wustl.edu 37 4 123664360 123664360 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 123664360 123664360 A G SNP BBS12 ENST00000314218 human ensembl 74_37 +1 known missense c.1313 p.N438S 0.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS12 HGNC ENSG00000181004 128 0 0 83 11 11.7021 MAEA 0 genome.wustl.edu 37 4 1316173 1316173 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 1316173 1316173 T C SNP MAEA ENST00000303400 human ensembl 74_37 +1 known missense c.461 p.L154P 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 268 0 0 93 58 38.4106 MAB21L2 0 genome.wustl.edu 37 4 151504409 151504409 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 151504409 151504409 G T SNP MAB21L2 ENST00000317605 human ensembl 74_37 +1 known silent c.228 p.V76 1.000 pfam_Mab-21_dom pfam_Mab-21_dom,pfscan_Ricin_B_lectin - no_errors MAB21L2 HGNC ENSG00000181541 123 0 0 41 25 37.8788 FBXW7 0 genome.wustl.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 153249385 153249385 G A SNP FBXW7 ENST00000281708 human ensembl 74_37 -1 known missense c.1393 p.R465C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW7 HGNC ENSG00000109670 256 0 0 156 67 30.0448 FHDC1 0 genome.wustl.edu 37 4 153896474 153896474 + Silent SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 153896474 153896474 A C SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known silent c.2031 p.T677 0.000 NULL pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 106 0 0 43 16 27.1186 TRIM2 0 genome.wustl.edu 37 4 154216859 154216859 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 154216859 154216859 C T SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.1181 p.A394V 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 97 0 0 37 25 40.3226 FBXL5 0 genome.wustl.edu 37 4 15642491 15642491 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 15642491 15642491 A G SNP FBXL5 ENST00000341285 human ensembl 74_37 -1 known silent c.316 p.L106 1.000 NULL pfam_F-box_dom,pfam_Leu-rich_rpt,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL5 HGNC ENSG00000118564 94 0 0 42 21 33.3333 PDGFC 0 genome.wustl.edu 37 4 157688944 157688944 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 157688944 157688944 A G SNP PDGFC ENST00000502773 human ensembl 74_37 -1 known missense c.902 p.V301A 0.999 pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,smart_PDGF/VEGF_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFC HGNC ENSG00000145431 90 0 0 46 28 37.8378 FAM198B 0 genome.wustl.edu 37 4 159092074 159092074 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 159092074 159092074 G A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.454 p.P152S 0.000 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 128 0 0 55 35 38.8889 NPY5R 0 genome.wustl.edu 37 4 164271917 164271917 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 164271917 164271917 G A SNP NPY5R ENST00000338566 human ensembl 74_37 +1 known nonsense c.492 p.W164* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_NPY5_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors NPY5R HGNC ENSG00000164129 320 0 0 168 73 30.2905 TLL1 0 genome.wustl.edu 37 4 167022027 167022027 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 167022027 167022027 A G SNP TLL1 ENST00000061240 human ensembl 74_37 +1 known silent c.3041 p.*1014 1.000 NULL pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB_dom,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC ENSG00000038295 64 0 0 39 16 29.0909 TENM3 0 genome.wustl.edu 37 4 183721042 183721042 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 183721042 183721042 G A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known silent c.7638 p.T2546 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 37 0 0 12 8 40 TRAPPC11 0 genome.wustl.edu 37 4 184614279 184614279 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 184614279 184614279 T C SNP TRAPPC11 ENST00000334690 human ensembl 74_37 +1 known missense c.2216 p.I739T 0.272 NULL pfam_Foie-gras_1,pfam_DUF1683_C - no_errors TRAPPC11 HGNC ENSG00000168538 66 0 0 35 22 38.5965 CASP3 0 genome.wustl.edu 37 4 185552304 185552304 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 185552304 185552304 C T SNP CASP3 ENST00000308394 human ensembl 74_37 -1 known missense c.491 p.R164H 1.000 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP3 HGNC ENSG00000164305 77 0 0 29 14 32.5581 CYP4V2 0 genome.wustl.edu 37 4 187131879 187131879 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 187131879 187131879 T C SNP CYP4V2 ENST00000502665 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CYP4V2 HGNC ENSG00000145476 12 0 0 19 9 32.1429 WHSC1 0 genome.wustl.edu 37 4 1932443 1932443 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 1932443 1932443 C T SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.1501 p.R501C 0.997 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 79 0 0 50 4 7.40741 CCKAR 0 genome.wustl.edu 37 4 26483534 26483534 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 26483534 26483534 T C SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known missense c.1013 p.Y338C 0.934 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 148 0 0 62 35 36.0825 CCKAR 0 genome.wustl.edu 37 4 26487447 26487447 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 26487447 26487447 G A SNP CCKAR ENST00000295589 human ensembl 74_37 -1 known silent c.438 p.P146 0.170 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt,prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_CholecystokininA_recpt_N,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcy_rcpt_A,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_Gastrin_rcpt,prints_NPY_rcpt - no_errors CCKAR HGNC ENSG00000163394 37 0 0 26 14 35 SH3BP2 0 genome.wustl.edu 37 4 2822459 2822459 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 2822459 2822459 A G SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known missense c.286 p.T96A 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 62 0 0 31 11 26.1905 SH3BP2 0 genome.wustl.edu 37 4 2828969 2828969 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 2828969 2828969 G A SNP SH3BP2 ENST00000503393 human ensembl 74_37 +1 known silent c.612 p.S204 0.102 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 141 0 0 36 18 33.3333 HTT 0 genome.wustl.edu 37 4 3219640 3219640 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 3219640 3219640 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.7203 p.R2401 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 149 0 0 66 10 13.1579 RGS12 0 genome.wustl.edu 37 4 3417718 3417718 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 3417718 3417718 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.2297 p.A766V 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom 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 23 0 0 5 4 44.4444 TBC1D1 0 genome.wustl.edu 37 4 38022259 38022259 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 38022259 38022259 C T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known silent c.1020 p.S340 0.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 434 0 0 156 71 31.2775 KLB 0 genome.wustl.edu 37 4 39450263 39450263 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 39450263 39450263 T C SNP KLB ENST00000257408 human ensembl 74_37 +1 known missense c.3092 p.L1031S 0.958 NULL pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KLB HGNC ENSG00000134962 135 0 0 84 26 23.6364 UBE2K 0 genome.wustl.edu 37 4 39699908 39699908 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 39699908 39699908 T C SNP UBE2K ENST00000438068 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UBE2K HGNC ENSG00000078140 16 0 0 7 3 30 DCAF4L1 0 genome.wustl.edu 37 4 41984520 41984520 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 41984520 41984520 T C SNP DCAF4L1 ENST00000333141 human ensembl 74_37 +1 known silent c.711 p.P237 0.901 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L1 HGNC ENSG00000182308 314 0 0 135 59 30.4124 LYAR 0 genome.wustl.edu 37 4 4285410 4285410 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 4285410 4285410 C A SNP LYAR ENST00000343470 human ensembl 74_37 -1 known missense c.60 p.K20N 1.000 NULL pfam_Znf_C2H2_LYAR - no_errors LYAR HGNC ENSG00000145220 67 0 0 17 19 52.7778 TEC 0 genome.wustl.edu 37 4 48169970 48169970 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 48169970 48169970 G A SNP TEC ENST00000381501 human ensembl 74_37 -1 known nonsense c.496 p.R166* 0.998 superfamily_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_Znf_Btk_motif,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,prints_SH2,prints_Znf_Btk_motif - no_errors TEC HGNC ENSG00000135605 132 0 0 54 28 34.1463 EPHA5 0 genome.wustl.edu 37 4 66230798 66230798 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 66230798 66230798 C T SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known missense c.2173 p.A725T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA5 HGNC ENSG00000145242 221 0 0 124 22 15.0685 PARM1 0 genome.wustl.edu 37 4 75937954 75937954 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 75937954 75937954 G A SNP PARM1 ENST00000307428 human ensembl 74_37 +1 known silent c.363 p.T121 0.000 NULL NULL - no_errors PARM1 HGNC ENSG00000169116 232 0 0 114 54 32.1429 SHROOM3 0 genome.wustl.edu 37 4 77675534 77675534 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 77675534 77675534 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.3898 p.G1300S 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 240 0 0 138 28 16.8675 ENSG00000233860 0 genome.wustl.edu 37 4 77678143 77678143 + RNA SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 77678143 77678143 G T SNP ENSG00000233860 ENST00000452412 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors RP11-359D14.2 Clone_based_vega_gene ENSG00000233860 51 0 0 35 4 10.2564 AFAP1 0 genome.wustl.edu 37 4 7844918 7844918 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 7844918 7844918 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known missense c.494 p.R165Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 79 0 0 44 19 30.1587 ABLIM2 0 genome.wustl.edu 37 4 8037891 8037891 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 8037891 8037891 C T SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known silent c.1032 p.R344 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 68 0 0 27 5 15.625 ABLIM2 0 genome.wustl.edu 37 4 8098904 8098904 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 8098904 8098904 T C SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known missense c.260 p.D87G 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 35 0 0 9 4 30.7692 SH3TC1 0 genome.wustl.edu 37 4 8229582 8229582 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 8229582 8229582 T C SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.2161 p.C721R 0.861 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 150 0 0 63 6 8.69565 PLAC8 0 genome.wustl.edu 37 4 84026148 84026148 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 84026148 84026148 C T SNP PLAC8 ENST00000311507 human ensembl 74_37 -1 known silent c.144 p.P48 0.000 pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich pfam_Uncharacterised_Cys-rich,tigrfam_Uncharacterised_Cys-rich - no_errors PLAC8 HGNC ENSG00000145287 99 0 0 35 12 25.5319 WDFY3 0 genome.wustl.edu 37 4 85750185 85750185 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 85750185 85750185 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.928 p.Y310H 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 108 0 0 60 28 31.8182 MEPE 0 genome.wustl.edu 37 4 88766641 88766641 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 88766641 88766641 A G SNP MEPE ENST00000361056 human ensembl 74_37 +1 known silent c.621 p.P207 0.009 pfam_Osteoregulin pfam_Osteoregulin - no_errors MEPE HGNC ENSG00000152595 195 0 0 94 9 8.73786 HERC5 0 genome.wustl.edu 37 4 89415439 89415439 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 89415439 89415439 C T SNP HERC5 ENST00000264350 human ensembl 74_37 +1 known missense c.2401 p.P801S 0.989 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_RCC1/BLIP-II,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC ENSG00000138646 82 0 0 45 7 13.4615 USP17L10 0 genome.wustl.edu 37 4 9213847 9213847 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 9213847 9213847 C A SNP USP17L10 ENST00000417945 human ensembl 74_37 +1 novel missense c.1465 p.L489I 0.000 NULL pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L10 HGNC ENSG00000231396 37 0 0 4 16 80 GRID2 0 genome.wustl.edu 37 4 94693552 94693552 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 94693552 94693552 G T SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known missense c.2927 p.R976M 1.000 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 93 0 0 52 25 32.4675 SLC26A1 0 genome.wustl.edu 37 4 985400 985400 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 985400 985400 A G SNP SLC26A1 ENST00000361661 human ensembl 74_37 -1 known missense c.92 p.L31P 0.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A1 HGNC ENSG00000145217 46 0 0 26 9 25.7143 MCC 0 genome.wustl.edu 37 5 112824010 112824010 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 112824010 112824010 G A SNP MCC ENST00000408903 human ensembl 74_37 -1 putative silent c.102 p.T34 0.988 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MCC HGNC ENSG00000171444 40 0 0 11 9 45 SLC6A19 0 genome.wustl.edu 37 5 1212549 1212549 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 1212549 1212549 T C SNP SLC6A19 ENST00000304460 human ensembl 74_37 +1 known missense c.613 p.W205R 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A19 HGNC ENSG00000174358 226 0 0 63 41 39.4231 GRAMD3 0 genome.wustl.edu 37 5 125819169 125819169 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 125819169 125819169 A T SNP GRAMD3 ENST00000542322 human ensembl 74_37 +1 known missense c.774 p.E258D 0.999 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC ENSG00000155324 86 0 0 46 19 29.2308 GRAMD3 0 genome.wustl.edu 37 5 125821457 125821457 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 125821457 125821457 T C SNP GRAMD3 ENST00000542322 human ensembl 74_37 +1 known silent c.1074 p.Y358 0.993 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD3 HGNC ENSG00000155324 54 0 0 17 16 48.4848 MEGF10 0 genome.wustl.edu 37 5 126783248 126783248 + Splice_Site SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 126783248 126783248 G T SNP MEGF10 ENST00000274473 human ensembl 74_37 +1 known splice_site c.2729-1 e20-1 1.000 - - - no_errors MEGF10 HGNC ENSG00000145794 158 0 0 60 36 37.5 CHSY3 0 genome.wustl.edu 37 5 129243911 129243911 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 129243911 129243911 T C SNP CHSY3 ENST00000305031 human ensembl 74_37 +1 known missense c.944 p.M315T 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 89 0 0 35 24 40.678 SEPT8 0 genome.wustl.edu 37 5 132096635 132096635 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 132096635 132096635 C T SNP SEPT8 ENST00000378719 human ensembl 74_37 -1 known missense c.1145 p.R382H 1.000 pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT8 HGNC ENSG00000164402 276 1 0.361011 85 56 39.7163 SEC24A 0 genome.wustl.edu 37 5 133996998 133996998 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 133996998 133996998 T C SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known missense c.287 p.V96A 0.184 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 256 1 0.389105 116 49 29.697 TGFBI 0 genome.wustl.edu 37 5 135382977 135382977 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 135382977 135382977 C T SNP TGFBI ENST00000305126 human ensembl 74_37 +1 known silent c.639 p.N213 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 155 0 0 118 7 5.6 CDC23 0 genome.wustl.edu 37 5 137537824 137537824 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 137537824 137537824 G A SNP CDC23 ENST00000394886 human ensembl 74_37 -1 known silent c.393 p.D131 1.000 pfam_APC8 pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 43 0 0 19 15 44.1176 GFRA3 0 genome.wustl.edu 37 5 137610052 137610052 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 137610052 137610052 A G SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known missense c.62 p.L21P 0.888 prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 17 0 0 7 3 30 CTNNA1 0 genome.wustl.edu 37 5 138118937 138118937 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 138118937 138118937 T C SNP CTNNA1 ENST00000302763 human ensembl 74_37 +1 known silent c.177 p.H59 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 103 0 0 53 27 33.75 LRRTM2 0 genome.wustl.edu 37 5 138209437 138209437 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 138209437 138209437 T C SNP LRRTM2 ENST00000274711 human ensembl 74_37 -1 known silent c.813 p.T271 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM2 HGNC ENSG00000146006 488 0 0 241 116 32.493 SLC4A9 0 genome.wustl.edu 37 5 139742537 139742537 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 139742537 139742537 A T SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.920 p.D307V 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 264 1 0.377358 113 28 19.8582 ANKHD1 0 genome.wustl.edu 37 5 139893056 139893056 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 139893056 139893056 C A SNP ANKHD1 ENST00000297183 human ensembl 74_37 +1 known missense c.4309 p.L1437M 0.998 NULL 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 ANKHD1 HGNC ENSG00000131503 106 0 0 55 14 20.2899 CD14 0 genome.wustl.edu 37 5 140012551 140012551 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140012551 140012551 G C SNP CD14 ENST00000302014 human ensembl 74_37 -1 known missense c.18 p.C6W 0.000 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC ENSG00000170458 71 0 0 22 10 31.25 WDR55 0 genome.wustl.edu 37 5 140044509 140044509 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140044509 140044509 T C SNP WDR55 ENST00000358337 human ensembl 74_37 +1 known silent c.12 p.T4 0.010 pirsf_WD_repeat_p55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 23 0 0 10 3 23.0769 PCDHA4 0 genome.wustl.edu 37 5 140188560 140188560 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140188560 140188560 G A SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1788 p.A596 0.344 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 PCDHA4 HGNC ENSG00000204967 216 0 0 69 34 33.0097 PCDHA8 0 genome.wustl.edu 37 5 140221266 140221266 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140221266 140221266 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.360 p.D120 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 306 0 0 157 70 30.837 PCDHA8 0 genome.wustl.edu 37 5 140221296 140221296 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140221296 140221296 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.390 p.P130 0.036 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 271 0 0 189 19 9.13462 PCDHA8 0 genome.wustl.edu 37 5 140222880 140222880 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140222880 140222880 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1974 p.A658 0.071 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 PCDHA8 HGNC ENSG00000204962 228 0 0 99 35 26.1194 PCDHB3 0 genome.wustl.edu 37 5 140481379 140481379 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140481379 140481379 G A SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.1146 p.M382I 0.000 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 141 0 0 93 20 17.6991 PCDHB5 0 genome.wustl.edu 37 5 140516594 140516594 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140516594 140516594 C T SNP PCDHB5 ENST00000231134 human ensembl 74_37 +1 known silent c.1578 p.F526 0.982 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 183 1 0.543478 61 34 35.7895 PCDHB11 0 genome.wustl.edu 37 5 140581656 140581656 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140581656 140581656 T C SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.2309 p.V770A 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 144 0 0 97 15 13.3929 PCDHGB4 0 genome.wustl.edu 37 5 140768044 140768044 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140768044 140768044 C T SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.593 p.T198I 0.000 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 PCDHGB4 HGNC ENSG00000253953 142 0 0 77 25 24.5098 PCDHGB4 0 genome.wustl.edu 37 5 140768489 140768489 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140768489 140768489 A G SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1038 p.I346M 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 115 0 0 66 5 7.04225 PCDHGA12 0 genome.wustl.edu 37 5 140812079 140812079 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140812079 140812079 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1753 p.G585S 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 PCDHGA12 HGNC ENSG00000253159 306 1 0.325733 103 56 35.2201 ARAP3 0 genome.wustl.edu 37 5 141052874 141052874 + RNA SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 141052874 141052874 A C SNP ARAP3 ENST00000524066 human ensembl 74_37 -1 putative rna NULL NULL 0.002 - - - no_errors ARAP3 HGNC ENSG00000120318 36 0 0 12 8 40 GRXCR2 0 genome.wustl.edu 37 5 145246164 145246164 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 145246164 145246164 T G SNP GRXCR2 ENST00000377976 human ensembl 74_37 -1 known missense c.464 p.E155A 0.955 NULL NULL - no_errors GRXCR2 HGNC ENSG00000204928 198 0 0 87 47 35.0746 GRXCR2 0 genome.wustl.edu 37 5 145246209 145246209 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 145246209 145246209 T C SNP GRXCR2 ENST00000377976 human ensembl 74_37 -1 known missense c.419 p.D140G 1.000 NULL NULL - no_errors GRXCR2 HGNC ENSG00000204928 154 0 0 78 24 23.5294 TCERG1 0 genome.wustl.edu 37 5 145838519 145838519 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 145838519 145838519 T C SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known missense c.511 p.S171P 1.000 superfamily_WW_dom 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 245 0 0 79 37 31.8966 TCERG1 0 genome.wustl.edu 37 5 145838635 145838635 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 145838635 145838635 T C SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known silent c.627 p.A209 0.794 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 72 0 0 37 15 28.8462 LPCAT1 0 genome.wustl.edu 37 5 1463936 1463936 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 1463936 1463936 A G SNP LPCAT1 ENST00000283415 human ensembl 74_37 -1 known missense c.1435 p.F479L 0.694 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors LPCAT1 HGNC ENSG00000153395 230 0 0 96 43 30.9353 ADRB2 0 genome.wustl.edu 37 5 148206692 148206692 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 148206692 148206692 A G SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known missense c.298 p.T100A 0.723 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 69 0 0 49 26 34.6667 IL17B 0 genome.wustl.edu 37 5 148754068 148754068 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 148754068 148754068 C T SNP IL17B ENST00000261796 human ensembl 74_37 -1 known missense c.407 p.R136H 1.000 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17B HGNC ENSG00000127743 112 0 0 33 9 21.4286 NDST1 0 genome.wustl.edu 37 5 149900850 149900850 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 149900850 149900850 C T SNP NDST1 ENST00000261797 human ensembl 74_37 +1 known missense c.34 p.R12W 1.000 NULL pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST1 HGNC ENSG00000070614 106 0 0 47 14 22.9508 SYNPO 0 genome.wustl.edu 37 5 150029322 150029322 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 150029322 150029322 C T SNP SYNPO ENST00000394243 human ensembl 74_37 +1 known silent c.2217 p.V739 0.999 NULL NULL - no_errors SYNPO HGNC ENSG00000171992 172 0 0 63 25 28.4091 SLC36A1 0 genome.wustl.edu 37 5 150867571 150867571 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 150867571 150867571 T C SNP SLC36A1 ENST00000243389 human ensembl 74_37 +1 known missense c.1187 p.L396P 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 94 0 0 27 15 35.7143 FAT2 0 genome.wustl.edu 37 5 150945734 150945734 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 150945734 150945734 T C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.2759 p.D920G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 64 0 0 28 15 34.8837 KIF4B 0 genome.wustl.edu 37 5 154394309 154394309 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 154394309 154394309 T C SNP KIF4B ENST00000435029 human ensembl 74_37 +1 known missense c.890 p.L297P 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC ENSG00000226650 313 0 0 155 66 29.8643 ADAM19 0 genome.wustl.edu 37 5 156918635 156918635 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 156918635 156918635 T C SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.2089 p.M697V 0.998 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 19 0 0 11 5 31.25 SOX30 0 genome.wustl.edu 37 5 157078216 157078216 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 157078216 157078216 G T SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.871 p.L291M 0.982 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 209 0 0 65 30 31.5789 MIR146A 0 genome.wustl.edu 37 5 159912359 159912359 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 159912359 159912359 C T SNP MIR146A ENST00000385201 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR146A HGNC ENSG00000253522 24 0 0 29 2 6.45161 DOCK2 0 genome.wustl.edu 37 5 169141166 169141166 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 169141166 169141166 T C SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.1794 p.D598 0.985 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 100 0 0 41 13 24.0741 DOCK2 0 genome.wustl.edu 37 5 169435557 169435557 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 169435557 169435557 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known silent c.3129 p.Q1043 1.000 superfamily_ARM-type_fold,superfamily_Ferritin-like_SF pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 118 0 0 70 5 6.66667 LCP2 0 genome.wustl.edu 37 5 169679461 169679461 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 169679461 169679461 C T SNP LCP2 ENST00000046794 human ensembl 74_37 -1 known missense c.1300 p.A434T 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,smart_SH2,pfscan_SH2 - no_errors LCP2 HGNC ENSG00000043462 19 0 0 17 3 15 NPM1 0 genome.wustl.edu 37 5 170827872 170827872 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 170827872 170827872 A G SNP NPM1 ENST00000296930 human ensembl 74_37 +1 known silent c.612 p.A204 1.000 NULL superfamily_Nucleoplasmin_core_dom - no_errors NPM1 HGNC ENSG00000181163 60 0 0 50 14 21.875 NKX2-5 0 genome.wustl.edu 37 5 172660103 172660103 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 172660103 172660103 C T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known silent c.444 p.A148 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 14 0 0 7 3 30 CPEB4 0 genome.wustl.edu 37 5 173317507 173317507 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 173317507 173317507 T C SNP CPEB4 ENST00000265085 human ensembl 74_37 +1 known silent c.771 p.H257 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC ENSG00000113742 328 0 0 147 39 20.9677 DOK3 0 genome.wustl.edu 37 5 176931771 176931771 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 176931771 176931771 G T SNP DOK3 ENST00000357198 human ensembl 74_37 -1 known missense c.786 p.H262Q 0.384 pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 117 0 0 35 20 36.3636 PHYKPL 0 genome.wustl.edu 37 5 177651531 177651531 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 177651531 177651531 C T SNP PHYKPL ENST00000308158 human ensembl 74_37 -1 known missense c.536 p.R179Q 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors PHYKPL HGNC ENSG00000175309 83 0 0 34 18 34.6154 FLT4 0 genome.wustl.edu 37 5 180046068 180046068 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 180046068 180046068 G T SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.2803 p.L935I 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_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 15 0 0 3 2 40 GUSBP1 0 genome.wustl.edu 37 5 21459663 21459663 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 21459663 21459663 C T SNP GUSBP1 ENST00000508973 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors GUSBP1 HGNC ENSG00000183666 221 0 0 50 28 35.8974 CDH10 0 genome.wustl.edu 37 5 24487830 24487830 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 24487830 24487830 G C SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.2309 p.P770R 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 270 0 0 116 60 34.0909 CDH10 0 genome.wustl.edu 37 5 24492959 24492959 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 24492959 24492959 C T SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.1591 p.V531I 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 204 0 0 141 47 25 IRX2 0 genome.wustl.edu 37 5 2748625 2748625 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 2748625 2748625 G A SNP IRX2 ENST00000302057 human ensembl 74_37 -1 known silent c.1197 p.N399 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX2 HGNC ENSG00000170561 119 0 0 20 12 37.5 CDH6 0 genome.wustl.edu 37 5 31313439 31313439 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 31313439 31313439 G A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.1268 p.R423Q 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 CDH6 HGNC ENSG00000113361 189 1 0.526316 95 38 28.5714 C5orf22 0 genome.wustl.edu 37 5 31534463 31534463 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 31534463 31534463 G T SNP C5orf22 ENST00000325366 human ensembl 74_37 +1 known missense c.166 p.D56Y 1.000 NULL superfamily_ICAT - no_errors C5orf22 HGNC ENSG00000082213 138 0 0 72 31 30.0971 ADAMTS12 0 genome.wustl.edu 37 5 33881309 33881309 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 33881309 33881309 G A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.404 p.S135F 0.688 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 140 0 0 74 31 29.5238 RAI14 0 genome.wustl.edu 37 5 34823885 34823885 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 34823885 34823885 C T SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known silent c.1947 p.S649 0.539 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 116 0 0 48 22 31.4286 NIPBL 0 genome.wustl.edu 37 5 37027460 37027460 + Splice_Site SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 37027460 37027460 G T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known splice_site c.5809-1 e31-1 1.000 - - - no_errors NIPBL HGNC ENSG00000164190 151 0 0 72 38 34.5455 NUP155 0 genome.wustl.edu 37 5 37309266 37309266 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 37309266 37309266 A G SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.2732 p.V911A 1.000 pfam_Nucleoporin_Nup133/Nup155_C pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 68 0 0 30 18 37.5 DAB2 0 genome.wustl.edu 37 5 39376883 39376883 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 39376883 39376883 C T SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.2006 p.R669Q 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 77 0 0 37 19 33.9286 NNT 0 genome.wustl.edu 37 5 43653189 43653189 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 43653189 43653189 C T SNP NNT ENST00000264663 human ensembl 74_37 +1 known missense c.1933 p.R645C 1.000 pfam_NADH_DH_b pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a - no_errors NNT HGNC ENSG00000112992 87 0 0 36 22 37.931 ADAMTS6 0 genome.wustl.edu 37 5 64510656 64510656 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 64510656 64510656 T C SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.2540 p.Q847R 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 127 0 0 83 9 9.78261 TMEM171 0 genome.wustl.edu 37 5 72424344 72424344 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 72424344 72424344 T A SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.768 p.S256R 1.000 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 182 0 0 116 11 8.66142 GFM2 0 genome.wustl.edu 37 5 74028896 74028896 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 74028896 74028896 T C SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known missense c.1538 p.Q513R 1.000 superfamily_EFG_III-V pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_EFG_III-V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 142 0 0 61 6 8.95522 COL4A3BP 0 genome.wustl.edu 37 5 74712780 74712780 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 74712780 74712780 G A SNP COL4A3BP ENST00000380494 human ensembl 74_37 -1 known missense c.1142 p.A381V 1.000 NULL pfam_START_lipid-bd_dom,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd_dom,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd_dom - no_errors COL4A3BP HGNC ENSG00000113163 138 0 0 74 45 37.8151 IQGAP2 0 genome.wustl.edu 37 5 75954396 75954396 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 75954396 75954396 A G SNP IQGAP2 ENST00000274364 human ensembl 74_37 +1 known silent c.2433 p.V811 0.962 NULL pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_dom,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 98 0 0 63 21 25 CMYA5 0 genome.wustl.edu 37 5 79034641 79034641 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 79034641 79034641 T C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known silent c.10053 p.R3351 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 107 0 0 44 34 43.5897 GPR98 0 genome.wustl.edu 37 5 89949699 89949699 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 89949699 89949699 C A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.4308 p.I1436 1.000 superfamily_ConA-like_lec_gl_sf pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 17 0 0 11 8 42.1053 SEMA5A 0 genome.wustl.edu 37 5 9154802 9154802 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 9154802 9154802 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.1279 p.G427R 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 138 0 0 37 19 33.9286 CCNC 0 genome.wustl.edu 37 6 100016436 100016436 + RNA SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 100016436 100016436 G C SNP CCNC ENST00000521017 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors CCNC HGNC ENSG00000112237 24 0 0 6 2 25 GRIK2 0 genome.wustl.edu 37 6 102074414 102074414 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 102074414 102074414 G A SNP GRIK2 ENST00000421544 human ensembl 74_37 +1 known missense c.443 p.S148N 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 143 0 0 79 41 34.1667 C6orf203 0 genome.wustl.edu 37 6 107361107 107361107 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 107361107 107361107 C T SNP C6orf203 ENST00000443043 human ensembl 74_37 +1 known missense c.158 p.T53I 0.002 NULL NULL - no_errors C6orf203 HGNC ENSG00000130349 156 0 0 86 30 25.8621 BEND3 0 genome.wustl.edu 37 6 107391396 107391396 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 107391396 107391396 G A SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.999 p.N333 0.999 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 42 0 0 20 20 50 LACE1 0 genome.wustl.edu 37 6 108616409 108616409 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 108616409 108616409 G T SNP LACE1 ENST00000368977 human ensembl 74_37 +1 known missense c.126 p.K42N 0.922 NULL pfam_ATPase_AFG1-like,superfamily_P-loop_NTPase - no_errors LACE1 HGNC ENSG00000135537 92 0 0 40 18 31.0345 AK9 0 genome.wustl.edu 37 6 109863251 109863251 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 109863251 109863251 G A SNP AK9 ENST00000424296 human ensembl 74_37 -1 known missense c.3349 p.R1117C 0.992 pfam_Adenylate_kin,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 30 0 0 22 6 21.4286 SLC22A16 0 genome.wustl.edu 37 6 110746270 110746270 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 110746270 110746270 C T SNP SLC22A16 ENST00000368919 human ensembl 74_37 -1 known missense c.1540 p.A514T 0.402 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A16 HGNC ENSG00000004809 103 0 0 55 31 36.0465 REV3L 0 genome.wustl.edu 37 6 111688943 111688943 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 111688943 111688943 G A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known silent c.6048 p.Y2016 0.990 superfamily_RNaseH-like_dom 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 - no_errors REV3L HGNC ENSG00000009413 191 0 0 104 61 36.9697 NEDD9 0 genome.wustl.edu 37 6 11193914 11193914 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 11193914 11193914 G A SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known silent c.471 p.P157 0.106 NULL pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 89 0 0 24 14 36.8421 RFX6 0 genome.wustl.edu 37 6 117240336 117240336 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 117240336 117240336 G A SNP RFX6 ENST00000332958 human ensembl 74_37 +1 known nonsense c.1059 p.W353* 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX6 HGNC ENSG00000185002 118 0 0 74 28 27.451 TBC1D32 0 genome.wustl.edu 37 6 121625975 121625975 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 121625975 121625975 C T SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.695 p.R232Q 0.997 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 78 0 0 35 15 30 BCLAF1 0 genome.wustl.edu 37 6 136599301 136599301 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 136599301 136599301 A G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.718 p.S240P 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 195 0 0 151 38 20.1058 KIAA1244 0 genome.wustl.edu 37 6 138640990 138640990 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 138640990 138640990 A C SNP KIAA1244 ENST00000251691 human ensembl 74_37 +1 known missense c.4625 p.E1542A 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold,superfamily_Sec7_dom,smart_Sec7_dom - no_errors KIAA1244 HGNC ENSG00000112379 109 0 0 68 31 31.3131 GRM1 0 genome.wustl.edu 37 6 146350787 146350787 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 146350787 146350787 T C SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.134 p.V45A 1.000 superfamily_Peripla_BP_I,prints_GPCR_3 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 236 0 0 53 31 36.9048 GRM1 0 genome.wustl.edu 37 6 146625839 146625839 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 146625839 146625839 G T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.1043 p.R348M 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 86 0 0 29 17 36.9565 GRM1 0 genome.wustl.edu 37 6 146755301 146755301 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 146755301 146755301 C T SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.2954 p.A985V 0.007 NULL 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 176 0 0 82 37 31.0924 GRM1 0 genome.wustl.edu 37 6 146755495 146755495 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 146755495 146755495 G A SNP GRM1 ENST00000282753 human ensembl 74_37 +1 known missense c.3148 p.A1050T 0.476 NULL 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 121 0 0 49 32 39.5062 SASH1 0 genome.wustl.edu 37 6 148848672 148848672 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 148848672 148848672 A G SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known silent c.1368 p.S456 0.147 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC ENSG00000111961 141 0 0 58 35 37.6344 NUP43 0 genome.wustl.edu 37 6 150048223 150048223 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 150048223 150048223 A G SNP NUP43 ENST00000340413 human ensembl 74_37 -1 known missense c.1025 p.I342T 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NUP43 HGNC ENSG00000120253 109 0 0 46 24 34.2857 MYLIP 0 genome.wustl.edu 37 6 16145267 16145267 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 16145267 16145267 T C SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.967 p.Y323H 0.997 NULL pfam_FERM_N,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,pfscan_Znf_RING,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors MYLIP HGNC ENSG00000007944 272 0 0 116 63 35.1955 T 0 genome.wustl.edu 37 6 166572000 166572000 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 166572000 166572000 G T SNP T ENST00000296946 human ensembl 74_37 -1 known missense c.1111 p.L371M 0.992 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 58 0 0 22 12 35.2941 MPC1 0 genome.wustl.edu 37 6 166778930 166778930 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 166778930 166778930 G A SNP MPC1 ENST00000341756 human ensembl 74_37 -1 known missense c.317 p.T106M 0.119 pfam_MPC pfam_MPC - no_errors MPC1 HGNC ENSG00000060762 14 0 0 6 6 50 RPS6KA2 0 genome.wustl.edu 37 6 166831826 166831826 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 166831826 166831826 T C SNP RPS6KA2 ENST00000510118 human ensembl 74_37 -1 known missense c.1900 p.T634A 0.981 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KA2 HGNC ENSG00000071242 134 0 0 52 7 11.8644 TCP10L2 0 genome.wustl.edu 37 6 167587432 167587432 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 167587432 167587432 C T SNP TCP10L2 ENST00000283507 human ensembl 74_37 +1 known silent c.336 p.H112 0.000 NULL NULL - no_errors TCP10L2 HGNC ENSG00000166984 61 0 0 24 14 36.8421 PRL 0 genome.wustl.edu 37 6 22297194 22297194 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 22297194 22297194 C T SNP PRL ENST00000306482 human ensembl 74_37 -1 known silent c.18 p.S6 0.000 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors PRL HGNC ENSG00000172179 45 0 0 22 3 12 HFE 0 genome.wustl.edu 37 6 26093138 26093138 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 26093138 26093138 C T SNP HFE ENST00000357618 human ensembl 74_37 +1 known missense c.842 p.T281M 0.040 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HFE HGNC ENSG00000010704 91 0 0 54 18 25 HIST1H1E 0 genome.wustl.edu 37 6 26156700 26156700 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 26156700 26156700 G T SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.82 p.A28S 0.308 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 170 0 0 59 25 29.7619 HIST1H2BE 0 genome.wustl.edu 37 6 26184252 26184252 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 26184252 26184252 G A SNP HIST1H2BE ENST00000356530 human ensembl 74_37 +1 known missense c.229 p.E77K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BE HGNC ENSG00000197697 295 0 0 106 59 35.7576 HIST1H4E 0 genome.wustl.edu 37 6 26205129 26205129 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 26205129 26205129 A G SNP HIST1H4E ENST00000360441 human ensembl 74_37 +1 known missense c.257 p.D86G 1.000 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 HIST1H4E HGNC ENSG00000198518 113 0 0 59 16 21.3333 BTN3A1 0 genome.wustl.edu 37 6 26406328 26406328 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 26406328 26406328 T C SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.277 p.Y93H 0.019 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 82 0 0 56 12 17.6471 ABT1 0 genome.wustl.edu 37 6 26598802 26598802 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 26598802 26598802 C A SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.748 p.L250M 1.000 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 96 0 0 39 15 27.7778 HIST1H2BJ 0 genome.wustl.edu 37 6 27100151 27100151 + Nonstop_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 27100151 27100151 A G SNP HIST1H2BJ ENST00000339812 human ensembl 74_37 -1 known nonstop c.379 p.*127Q 0.998 NULL pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BJ HGNC ENSG00000124635 144 0 0 50 33 39.759 SCAND3 0 genome.wustl.edu 37 6 28541255 28541255 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 28541255 28541255 C A SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.2411 p.S804I 0.703 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 123 0 0 81 45 35.7143 MAS1L 0 genome.wustl.edu 37 6 29454570 29454570 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 29454570 29454570 C T SNP MAS1L ENST00000377127 human ensembl 74_37 -1 known silent c.1110 p.R370 0.012 NULL pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors MAS1L HGNC ENSG00000204687 147 0 0 82 23 21.9048 TRIM10 0 genome.wustl.edu 37 6 30121844 30121844 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 30121844 30121844 G A SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known nonsense c.1348 p.R450* 0.001 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 90 0 0 36 17 32.0755 PPP1R10 0 genome.wustl.edu 37 6 30575625 30575625 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 30575625 30575625 T C SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.374 p.E125G 1.000 pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 270 0 0 128 27 17.4194 BPHL 0 genome.wustl.edu 37 6 3119739 3119739 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 3119739 3119739 C T SNP BPHL ENST00000380375 human ensembl 74_37 +1 known missense c.49 p.H17Y 0.001 NULL pfam_AB_hydrolase_1 - no_errors BPHL HGNC ENSG00000137274 123 0 0 71 20 21.978 NFKBIL1 0 genome.wustl.edu 37 6 31525892 31525892 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 31525892 31525892 A G SNP NFKBIL1 ENST00000376148 human ensembl 74_37 +1 known missense c.650 p.Q217R 1.000 NULL superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBIL1 HGNC ENSG00000204498 47 0 0 14 2 12.5 LST1 0 genome.wustl.edu 37 6 31556429 31556429 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 31556429 31556429 C T SNP LST1 ENST00000376111 human ensembl 74_37 +1 known missense c.104 p.A35V 0.960 NULL NULL - no_errors LST1 HGNC ENSG00000204482 78 0 0 34 18 34.6154 C6orf10 0 genome.wustl.edu 37 6 32261427 32261427 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 32261427 32261427 A G SNP C6orf10 ENST00000447241 human ensembl 74_37 -1 known silent c.1023 p.S341 0.003 NULL NULL - no_errors C6orf10 HGNC ENSG00000204296 182 0 0 113 56 33.1361 HLA-DQB1 0 genome.wustl.edu 37 6 32627968 32627968 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 32627968 32627968 T C SNP HLA-DQB1 ENST00000460185 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HLA-DQB1 HGNC ENSG00000179344 70 0 0 18 6 25 TAP2 0 genome.wustl.edu 37 6 32798079 32798079 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 32798079 32798079 T C SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.1600 p.I534V 0.005 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Ag_transporter2 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,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC ENSG00000204267 234 0 0 95 12 11.215 BAK1 0 genome.wustl.edu 37 6 33543094 33543094 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 33543094 33543094 A G SNP BAK1 ENST00000360661 human ensembl 74_37 -1 known missense c.331 p.F111L 0.945 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAK1 HGNC ENSG00000030110 92 0 0 61 4 6.15385 BAK1 0 genome.wustl.edu 37 6 33543097 33543097 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 33543097 33543097 A G SNP BAK1 ENST00000360661 human ensembl 74_37 -1 known missense c.328 p.Y110H 0.015 pfam_Blc2_fam,pfscan_Bcl2-like pfam_Blc2_fam,pfscan_Bcl2-like,prints_Blc2_fam - no_errors BAK1 HGNC ENSG00000030110 92 0 0 48 19 28.3582 ITPR3 0 genome.wustl.edu 37 6 33636774 33636774 + Missense_Mutation SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 33636774 33636774 C G SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.2030 p.A677G 0.994 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 87 0 0 44 10 18.5185 SPDEF 0 genome.wustl.edu 37 6 34512185 34512185 + Silent SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 34512185 34512185 G C SNP SPDEF ENST00000374037 human ensembl 74_37 -1 known silent c.48 p.L16 0.999 NULL pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPDEF HGNC ENSG00000124664 38 0 0 23 8 25.8065 C6orf106 0 genome.wustl.edu 37 6 34574621 34574621 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 34574621 34574621 A G SNP C6orf106 ENST00000374023 human ensembl 74_37 -1 known missense c.572 p.L191P 1.000 NULL superfamily_UBA-like - no_errors C6orf106 HGNC ENSG00000196821 160 0 0 81 31 27.6786 CLPS 0 genome.wustl.edu 37 6 35762936 35762936 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 35762936 35762936 C T SNP CLPS ENST00000259938 human ensembl 74_37 -1 known missense c.326 p.R109H 0.001 smart_Colipase pfam_Colipase_C,pfam_Colipase_N,smart_Colipase,prints_Colipase - no_errors CLPS HGNC ENSG00000137392 128 0 0 59 12 16.9014 PNPLA1 0 genome.wustl.edu 37 6 36269647 36269647 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 36269647 36269647 A G SNP PNPLA1 ENST00000457797 human ensembl 74_37 +1 known missense c.788 p.Y263C 0.108 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA1 HGNC ENSG00000180316 137 0 0 65 4 5.7971 CPNE5 0 genome.wustl.edu 37 6 36709965 36709965 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 36709965 36709965 A G SNP CPNE5 ENST00000459703 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CPNE5 HGNC ENSG00000124772 21 0 0 7 3 30 CPNE5 0 genome.wustl.edu 37 6 36767803 36767803 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 36767803 36767803 G A SNP CPNE5 ENST00000244751 human ensembl 74_37 -1 known silent c.228 p.F76 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 76 0 0 40 4 9.09091 KCNK5 0 genome.wustl.edu 37 6 39161960 39161960 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 39161960 39161960 C T SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.619 p.G207S 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 131 0 0 40 20 33.3333 PPP2R5D 0 genome.wustl.edu 37 6 42975937 42975937 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 42975937 42975937 A G SNP PPP2R5D ENST00000485511 human ensembl 74_37 +1 known splice_site c.858-2 e8-2 1.000 - - - no_errors PPP2R5D HGNC ENSG00000112640 358 0 0 127 42 24.8521 MRPL2 0 genome.wustl.edu 37 6 43023644 43023644 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 43023644 43023644 G A SNP MRPL2 ENST00000388752 human ensembl 74_37 -1 known nonsense c.622 p.R208* 1.000 pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold - no_errors MRPL2 HGNC ENSG00000112651 52 0 0 26 9 25.7143 PTK7 0 genome.wustl.edu 37 6 43098273 43098273 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 43098273 43098273 T C SNP PTK7 ENST00000230419 human ensembl 74_37 +1 known missense c.686 p.L229P 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,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 - no_errors PTK7 HGNC ENSG00000112655 40 0 0 32 16 33.3333 ZNF318 0 genome.wustl.edu 37 6 43325442 43325442 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 43325442 43325442 G A SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known nonsense c.610 p.R204* 0.996 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 248 0 0 84 44 34.375 LRRC73 0 genome.wustl.edu 37 6 43475025 43475025 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 43475025 43475025 A G SNP LRRC73 ENST00000372441 human ensembl 74_37 -1 novel missense c.902 p.L301P 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC73 HGNC ENSG00000204052 52 0 0 33 5 13.1579 SUPT3H 0 genome.wustl.edu 37 6 44988338 44988338 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 44988338 44988338 C T SNP SUPT3H ENST00000371460 human ensembl 74_37 -1 known missense c.251 p.R84Q 0.961 pfam_TFIID-18 pfam_TFIID-18,superfamily_Histone-fold - no_errors SUPT3H HGNC ENSG00000196284 104 0 0 49 26 34.6667 RUNX2 0 genome.wustl.edu 37 6 45296155 45296155 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 45296155 45296155 A G SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known silent c.96 p.L32 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 92 0 0 36 10 21.7391 GPR111 0 genome.wustl.edu 37 6 47647856 47647856 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 47647856 47647856 T C SNP GPR111 ENST00000296862 human ensembl 74_37 +1 known missense c.521 p.V174A 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC ENSG00000164393 103 0 0 65 18 21.6867 MUT 0 genome.wustl.edu 37 6 49407996 49407996 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 49407996 49407996 G T SNP MUT ENST00000274813 human ensembl 74_37 -1 known missense c.1879 p.H627N 1.000 pfam_Cobalamin-bd,superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 152 0 0 75 43 36.4407 LYRM4 0 genome.wustl.edu 37 6 5216852 5216852 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 5216852 5216852 T G SNP LYRM4 ENST00000500576 human ensembl 74_37 -1 known missense c.206 p.Q69P 1.000 pfam_Complex1_LYR pfam_Complex1_LYR - no_errors LYRM4 HGNC ENSG00000214113 126 0 0 64 26 28.8889 TRAM2 0 genome.wustl.edu 37 6 52370497 52370497 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 52370497 52370497 T C SNP TRAM2 ENST00000182527 human ensembl 74_37 -1 known missense c.775 p.I259V 1.000 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM2 HGNC ENSG00000065308 157 0 0 87 11 11.2245 DST 0 genome.wustl.edu 37 6 56394279 56394279 + Silent SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 56394279 56394279 A T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.17469 p.T5823 0.442 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 74 0 0 69 21 23.3333 KIAA1586 0 genome.wustl.edu 37 6 56918192 56918192 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 56918192 56918192 A G SNP KIAA1586 ENST00000370733 human ensembl 74_37 +1 known missense c.895 p.M299V 1.000 NULL superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC ENSG00000168116 68 0 0 41 21 33.871 LMBRD1 0 genome.wustl.edu 37 6 70428896 70428896 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 70428896 70428896 A G SNP LMBRD1 ENST00000370577 human ensembl 74_37 -1 known silent c.714 p.T238 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 53 0 0 28 17 37.7778 RIMS1 0 genome.wustl.edu 37 6 72892051 72892051 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 72892051 72892051 G A SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.877 p.V293M 0.996 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 96 0 0 30 18 37.5 BMP6 0 genome.wustl.edu 37 6 7727352 7727352 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 7727352 7727352 A C SNP BMP6 ENST00000283147 human ensembl 74_37 +1 known missense c.164 p.Q55P 0.569 NULL pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 10 0 0 0 2 100 HTR1B 0 genome.wustl.edu 37 6 78172894 78172894 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 78172894 78172894 C T SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.227 p.R76Q 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 361 0 0 105 30 22.2222 PHIP 0 genome.wustl.edu 37 6 79726328 79726328 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 79726328 79726328 G A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.1168 p.R390C 0.941 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors PHIP HGNC ENSG00000146247 234 0 0 91 54 37.2414 TBX18 0 genome.wustl.edu 37 6 85446984 85446984 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 85446984 85446984 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.1243 p.A415T 0.999 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 162 0 0 58 28 32.5581 CGA 0 genome.wustl.edu 37 6 87797872 87797872 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 87797872 87797872 G A SNP CGA ENST00000369582 human ensembl 74_37 -1 known missense c.47 p.S16L 1.000 NULL pfam_Glyco_hormone,smart_Glyco_hormone,pfscan_Glyco_hormone,prints_Glyco_hormone - no_errors CGA HGNC ENSG00000135346 33 0 0 9 10 52.6316 ZNF292 0 genome.wustl.edu 37 6 87967380 87967380 + Nonsense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 87967380 87967380 A T SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known nonsense c.4033 p.K1345* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 30 0 0 14 9 39.1304 C6orf165 0 genome.wustl.edu 37 6 88144681 88144681 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 88144681 88144681 C A SNP C6orf165 ENST00000369562 human ensembl 74_37 +1 known missense c.1404 p.D468E 0.044 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 81 0 0 54 22 28.9474 PNISR 0 genome.wustl.edu 37 6 99856034 99856034 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 99856034 99856034 A T SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.787 p.L263M 0.163 NULL NULL - no_errors PNISR HGNC ENSG00000132424 120 0 0 52 30 36.5854 ZAN 0 genome.wustl.edu 37 7 100348327 100348327 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 100348327 100348327 C T SNP ZAN ENST00000546292 human ensembl 74_37 +1 known silent c.1329 p.C443 0.551 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 35 0 0 20 6 23.0769 ACHE 0 genome.wustl.edu 37 7 100491723 100491723 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 100491723 100491723 C T SNP ACHE ENST00000302913 human ensembl 74_37 -1 known missense c.131 p.R44H 0.001 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 18 0 0 9 2 18.1818 PLOD3 0 genome.wustl.edu 37 7 100849593 100849593 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 100849593 100849593 C T SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.2186 p.R729H 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 221 0 0 38 28 42.4242 CUX1 0 genome.wustl.edu 37 7 101837135 101837135 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 101837135 101837135 A G SNP CUX1 ENST00000360264 human ensembl 74_37 +1 known missense c.1123 p.M375V 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX1 HGNC ENSG00000257923 57 0 0 23 12 34.2857 SPDYE2 0 genome.wustl.edu 37 7 102197663 102197663 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 102197663 102197663 G A SNP SPDYE2 ENST00000507918 human ensembl 74_37 +1 known silent c.663 p.S221 0.044 pfam_Cell_cycle_regulatory_Spy1 pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE2 HGNC ENSG00000205238 17 0 0 12 4 25 POLR2J3 0 genome.wustl.edu 37 7 102213002 102213002 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 102213002 102213002 T C SNP POLR2J3 ENST00000443430 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POLR2J3 HGNC ENSG00000168255 94 0 0 42 8 16 ORC5 0 genome.wustl.edu 37 7 103808969 103808969 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 103808969 103808969 G A SNP ORC5 ENST00000297431 human ensembl 74_37 -1 known nonsense c.829 p.Q277* 1.000 NULL superfamily_P-loop_NTPase - no_errors ORC5 HGNC ENSG00000164815 127 0 0 54 21 28 KMT2E 0 genome.wustl.edu 37 7 104753084 104753084 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 104753084 104753084 C A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known silent c.4881 p.P1627 0.436 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 190 0 0 51 42 45.1613 NRCAM 0 genome.wustl.edu 37 7 107807391 107807391 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 107807391 107807391 T C SNP NRCAM ENST00000379028 human ensembl 74_37 -1 known silent c.3441 p.S1147 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NRCAM HGNC ENSG00000091129 51 0 0 15 12 44.4444 LRRN3 0 genome.wustl.edu 37 7 110763371 110763371 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 110763371 110763371 T C SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known silent c.543 p.S181 0.899 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,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 LRRN3 HGNC ENSG00000173114 113 0 0 65 36 35.6436 THSD7A 0 genome.wustl.edu 37 7 11501698 11501698 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 11501698 11501698 C T SNP THSD7A ENST00000423059 human ensembl 74_37 -1 known missense c.2441 p.C814Y 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 195 0 0 83 45 35.1562 MET 0 genome.wustl.edu 37 7 116381068 116381068 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 116381068 116381068 G A SNP MET ENST00000318493 human ensembl 74_37 +1 known missense c.1690 p.A564T 0.001 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 163 0 0 64 37 36.6337 GPR37 0 genome.wustl.edu 37 7 124404154 124404154 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 124404154 124404154 G A SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.877 p.R293W 0.998 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 142 0 0 88 42 32.3077 LRRC4 0 genome.wustl.edu 37 7 127669309 127669309 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 127669309 127669309 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known missense c.1385 p.T462M 0.996 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 206 0 0 84 48 36.3636 LRRC4 0 genome.wustl.edu 37 7 127669674 127669674 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 127669674 127669674 G A SNP LRRC4 ENST00000249363 human ensembl 74_37 -1 known silent c.1020 p.L340 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4 HGNC ENSG00000128594 51 0 0 24 7 22.5806 FLNC 0 genome.wustl.edu 37 7 128498158 128498158 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 128498158 128498158 G A SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.7877 p.S2626N 1.000 NULL 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 FLNC HGNC ENSG00000128591 112 0 0 28 4 12.5 ATP6V1F 0 genome.wustl.edu 37 7 128505608 128505608 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 128505608 128505608 G A SNP ATP6V1F ENST00000249289 human ensembl 74_37 +1 known missense c.336 p.M112I 1.000 pirsf_ATPase_V1-cplx_fsu_euk,tigrfam_ATPase_V1-cplx_fsu_euk pfam_ATPase_V1-cplx_f_g_su,pirsf_ATPase_V1-cplx_fsu_euk,tigrfam_ATPase_V1-cplx_fsu_euk - no_errors ATP6V1F HGNC ENSG00000128524 52 0 0 20 8 28.5714 MIR29B1 0 genome.wustl.edu 37 7 130561524 130561524 + RNA SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 130561524 130561524 T A SNP MIR29B1 ENST00000362111 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR29B1 HGNC ENSG00000226380 55 0 0 20 10 33.3333 NUP205 0 genome.wustl.edu 37 7 135269586 135269586 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 135269586 135269586 C A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.1049 p.A350E 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 51 0 0 19 13 40.625 DGKI 0 genome.wustl.edu 37 7 137151673 137151673 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 137151673 137151673 C T SNP DGKI ENST00000424189 human ensembl 74_37 -1 novel missense c.2522 p.R841H 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 90 0 0 40 12 23.0769 HIPK2 0 genome.wustl.edu 37 7 139285327 139285327 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 139285327 139285327 G A SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known silent c.2271 p.H757 0.723 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 HIPK2 HGNC ENSG00000064393 142 0 0 35 24 40.678 AGK 0 genome.wustl.edu 37 7 141352635 141352635 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 141352635 141352635 C T SNP AGK ENST00000355413 human ensembl 74_37 +1 known missense c.1180 p.P394S 1.000 NULL pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom - no_errors AGK HGNC ENSG00000006530 183 0 0 76 33 30.2752 MGAM 0 genome.wustl.edu 37 7 141778765 141778765 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 141778765 141778765 G A SNP MGAM ENST00000475668 human ensembl 74_37 +1 putative missense c.5804 p.R1935H 0.825 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 72 0 0 37 35 48.6111 ZYX 0 genome.wustl.edu 37 7 143085726 143085726 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 143085726 143085726 C A SNP ZYX ENST00000322764 human ensembl 74_37 +1 known missense c.1289 p.A430E 0.269 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 123 1 0.806452 47 24 33.8028 EPHA1 0 genome.wustl.edu 37 7 143096798 143096798 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 143096798 143096798 G A SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.781 p.R261W 0.000 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_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 128 0 0 45 22 32.8358 LRRC61 0 genome.wustl.edu 37 7 150034380 150034380 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 150034380 150034380 C A SNP LRRC61 ENST00000323078 human ensembl 74_37 +1 known missense c.430 p.P144T 0.928 NULL pfam_Leu-rich_rpt - no_errors LRRC61 HGNC ENSG00000127399 80 0 0 21 13 38.2353 DPP6 0 genome.wustl.edu 37 7 154672632 154672632 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 154672632 154672632 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2113 p.R705C 0.891 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 123 0 0 15 18 54.5455 RBM33 0 genome.wustl.edu 37 7 155538000 155538000 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 155538000 155538000 C T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2683 p.P895S 0.218 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 30 0 0 12 10 45.4545 CDCA7L 0 genome.wustl.edu 37 7 21946038 21946038 + Nonsense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 21946038 21946038 G A SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known nonsense c.790 p.Q264* 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 257 0 0 82 37 31.0924 FTSJ2 0 genome.wustl.edu 37 7 2274830 2274830 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 2274830 2274830 C T SNP FTSJ2 ENST00000242257 human ensembl 74_37 -1 known missense c.668 p.S223N 1.000 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 164 0 0 90 43 32.3308 IGF2BP3 0 genome.wustl.edu 37 7 23509592 23509592 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 23509592 23509592 G A SNP IGF2BP3 ENST00000258729 human ensembl 74_37 -1 known silent c.138 p.D46 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC ENSG00000136231 140 0 0 35 24 40.678 HOXA2 0 genome.wustl.edu 37 7 27140534 27140534 + Silent SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 27140534 27140534 A C SNP HOXA2 ENST00000222718 human ensembl 74_37 -1 known silent c.942 p.P314 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 134 1 0.740741 57 28 32.9412 HOXA7 0 genome.wustl.edu 37 7 27195865 27195865 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 27195865 27195865 G T SNP HOXA7 ENST00000242159 human ensembl 74_37 -1 known silent c.300 p.A100 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA7 HGNC ENSG00000122592 31 0 0 21 10 32.2581 AQP1 0 genome.wustl.edu 37 7 30963164 30963164 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 30963164 30963164 G A SNP AQP1 ENST00000434909 human ensembl 74_37 +1 known missense c.910 p.V304M 1.000 superfamily_Aquaporin-like pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_1,tigrfam_MIP - no_errors AQP1 HGNC ENSG00000240583 76 0 0 26 10 27.7778 PDE1C 0 genome.wustl.edu 37 7 32110114 32110114 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 32110114 32110114 C T SNP PDE1C ENST00000495221 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors PDE1C HGNC ENSG00000154678 20 0 0 10 8 44.4444 SDK1 0 genome.wustl.edu 37 7 3678636 3678636 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 3678636 3678636 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known silent c.459 p.K153 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 19 0 0 10 11 52.381 SDK1 0 genome.wustl.edu 37 7 3678637 3678637 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 3678637 3678637 T C SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.460 p.Y154H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 20 0 0 19 3 13.6364 SDK1 0 genome.wustl.edu 37 7 3681641 3681641 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 3681641 3681641 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.617 p.R206H 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 73 0 0 53 5 8.62069 EPDR1 0 genome.wustl.edu 37 7 37960770 37960770 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 37960770 37960770 C T SNP EPDR1 ENST00000559325 human ensembl 74_37 +1 known missense c.589 p.R197W 1.000 smart_Ependymin pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 61 0 0 33 9 21.4286 FAM183B 0 genome.wustl.edu 37 7 38725534 38725534 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 38725534 38725534 G A SNP FAM183B ENST00000409072 human ensembl 74_37 -1 novel silent c.72 p.Y24 0.862 NULL NULL - no_errors FAM183B HGNC ENSG00000164556 109 0 0 45 24 34.7826 VPS41 0 genome.wustl.edu 37 7 38794339 38794339 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 38794339 38794339 A C SNP VPS41 ENST00000310301 human ensembl 74_37 -1 known missense c.1751 p.V584G 1.000 pfam_Clathrin_H-chain/VPS_repeat,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 51 0 0 18 9 33.3333 SDK1 0 genome.wustl.edu 37 7 4056808 4056808 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 4056808 4056808 G A SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.2426 p.R809H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 48 0 0 17 11 39.2857 SDK1 0 genome.wustl.edu 37 7 4249683 4249683 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 4249683 4249683 T G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.5428 p.F1810V 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 151 0 0 60 23 27.7108 ZMIZ2 0 genome.wustl.edu 37 7 44805082 44805082 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 44805082 44805082 G A SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.2146 p.V716M 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 61 0 0 18 5 21.7391 POM121L12 0 genome.wustl.edu 37 7 53103659 53103659 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 53103659 53103659 C T SNP POM121L12 ENST00000408890 human ensembl 74_37 +1 known missense c.295 p.R99C 0.000 NULL NULL - no_errors POM121L12 HGNC ENSG00000221900 65 0 0 15 14 48.2759 ACTB 0 genome.wustl.edu 37 7 5568648 5568648 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 5568648 5568648 A G SNP ACTB ENST00000425660 human ensembl 74_37 -1 known splice_site c.378+2 e3+2 1.000 - - - no_errors ACTB HGNC ENSG00000075624 40 0 0 13 5 27.7778 PMS2 0 genome.wustl.edu 37 7 6029582 6029582 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 6029582 6029582 G A SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known silent c.993 p.C331 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 63 0 0 19 18 48.6486 ZNF92 0 genome.wustl.edu 37 7 64864403 64864403 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 64864403 64864403 G A SNP ZNF92 ENST00000328747 human ensembl 74_37 +1 known missense c.1376 p.G459D 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF92 HGNC ENSG00000146757 78 0 0 37 17 31.4815 CCT6P1 0 genome.wustl.edu 37 7 65222986 65222986 + RNA SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 65222986 65222986 G T SNP CCT6P1 ENST00000442266 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors CCT6P1 HGNC ENSG00000228409 28 0 0 16 4 20 AUTS2 0 genome.wustl.edu 37 7 69064751 69064751 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 69064751 69064751 G A SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.112 p.G38S 0.913 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 12 0 0 2 3 60 WBSCR17 0 genome.wustl.edu 37 7 70800611 70800611 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 70800611 70800611 C T SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known missense c.314 p.P105L 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 77 0 0 43 18 29.5082 WBSCR22 0 genome.wustl.edu 37 7 73106939 73106939 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 73106939 73106939 G A SNP WBSCR22 ENST00000265758 human ensembl 74_37 +1 known missense c.473 p.R158Q 1.000 NULL pfam_Unchr_MeTrfase_Williams-Beuren,pfam_Methyltransf_11 - no_errors WBSCR22 HGNC ENSG00000071462 103 1 0.961538 24 18 42.8571 EIF4H 0 genome.wustl.edu 37 7 73609551 73609551 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 73609551 73609551 G A SNP EIF4H ENST00000265753 human ensembl 74_37 +1 known silent c.660 p.T220 0.007 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors EIF4H HGNC ENSG00000106682 118 0 0 41 16 28.0702 GTF2IRD2 0 genome.wustl.edu 37 7 74212122 74212122 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 74212122 74212122 A G SNP GTF2IRD2 ENST00000405086 human ensembl 74_37 -1 known missense c.1729 p.S577P 0.954 superfamily_RNaseH-like_dom pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 47 0 0 31 16 34.0426 ENSG00000234718 0 genome.wustl.edu 37 7 7782180 7782180 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 7782180 7782180 G A SNP ENSG00000234718 ENST00000418534 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC007161.5 Clone_based_vega_gene ENSG00000234718 125 0 0 68 7 9.33333 HEATR2 0 genome.wustl.edu 37 7 801507 801507 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 801507 801507 G A SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.1588 p.A530T 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 18 0 0 3 2 40 SEMA3D 0 genome.wustl.edu 37 7 84642151 84642151 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 84642151 84642151 C T SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known missense c.1715 p.R572H 1.000 superfamily_Plexin-like_fold,smart_Plexin-like_fold pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 111 0 0 41 30 42.2535 GRM3 0 genome.wustl.edu 37 7 86394652 86394652 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 86394652 86394652 G A SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.191 p.R64Q 1.000 superfamily_Peripla_BP_I 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_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 171 0 0 99 66 40 GRM3 0 genome.wustl.edu 37 7 86479839 86479839 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 86479839 86479839 A G SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.2545 p.T849A 1.000 prints_GPCR_3_mtglu_rcpt_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 114 0 0 55 40 42.1053 ABCB1 0 genome.wustl.edu 37 7 87148696 87148696 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 87148696 87148696 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2873 p.R958Q 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 104 0 0 47 22 31.8841 ABCB1 0 genome.wustl.edu 37 7 87165820 87165820 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 87165820 87165820 C T SNP ABCB1 ENST00000265724 human ensembl 74_37 -1 known missense c.2435 p.G812E 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB1 HGNC ENSG00000085563 108 0 0 34 19 35.8491 SUN1 0 genome.wustl.edu 37 7 905639 905639 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 905639 905639 G A SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.2482 p.A828T 0.999 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 127 0 0 49 5 9.25926 GET4 0 genome.wustl.edu 37 7 933435 933435 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 933435 933435 G T SNP GET4 ENST00000265857 human ensembl 74_37 +1 known missense c.805 p.D269Y 1.000 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 67 0 0 18 6 25 DLX6 0 genome.wustl.edu 37 7 96639203 96639203 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 96639203 96639203 G A SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known silent c.726 p.A242 0.800 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 87 0 0 39 21 35 DLX5 0 genome.wustl.edu 37 7 96654080 96654080 + RNA SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 96654080 96654080 C A SNP DLX5 ENST00000493764 human ensembl 74_37 -1 known rna NULL NULL 0.820 - - - no_errors DLX5 HGNC ENSG00000105880 12 0 0 5 7 58.3333 NPTX2 0 genome.wustl.edu 37 7 98254285 98254285 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 98254285 98254285 G A SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.695 p.R232H 1.000 superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 429 0 0 153 80 34.3348 TRRAP 0 genome.wustl.edu 37 7 98574685 98574685 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 98574685 98574685 G A SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.8350 p.G2784R 1.000 pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors TRRAP HGNC ENSG00000196367 161 0 0 78 9 10.3448 ZNF789 0 genome.wustl.edu 37 7 99084582 99084582 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 99084582 99084582 G A SNP ZNF789 ENST00000331410 human ensembl 74_37 +1 known missense c.749 p.C250Y 0.112 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 ZNF789 HGNC ENSG00000198556 204 0 0 98 44 30.9859 ZNF394 0 genome.wustl.edu 37 7 99092122 99092122 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 99092122 99092122 T C SNP ZNF394 ENST00000337673 human ensembl 74_37 -1 known missense c.716 p.H239R 0.000 NULL 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 ZNF394 HGNC ENSG00000160908 197 0 0 74 38 33.9286 GAL3ST4 0 genome.wustl.edu 37 7 99764249 99764249 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 99764249 99764249 C T SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known missense c.305 p.R102H 0.996 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 252 0 0 111 25 18.3824 RGS22 0 genome.wustl.edu 37 8 101084439 101084439 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 101084439 101084439 C T SNP RGS22 ENST00000360863 human ensembl 74_37 -1 known missense c.359 p.G120D 0.997 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam - no_errors RGS22 HGNC ENSG00000132554 76 0 0 75 20 21.0526 DCSTAMP 0 genome.wustl.edu 37 8 105361304 105361304 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 105361304 105361304 T C SNP DCSTAMP ENST00000297581 human ensembl 74_37 +1 known missense c.524 p.L175P 0.970 NULL pfam_DC_STAMP-like,superfamily_ABC1_TM_dom - no_errors DCSTAMP HGNC ENSG00000164935 220 0 0 112 100 47.1698 PKHD1L1 0 genome.wustl.edu 37 8 110499026 110499026 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 110499026 110499026 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.9856 p.T3286A 1.000 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 300 0 0 206 61 22.8464 TRPS1 0 genome.wustl.edu 37 8 116426822 116426822 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 116426822 116426822 T C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known missense c.3314 p.Y1105C 1.000 NULL pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 129 0 0 108 24 18.1818 TAF2 0 genome.wustl.edu 37 8 120800681 120800681 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 120800681 120800681 G A SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.1690 p.L564F 1.000 NULL pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 121 0 0 94 35 27.1318 WDYHV1 0 genome.wustl.edu 37 8 124449570 124449570 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 124449570 124449570 T C SNP WDYHV1 ENST00000287387 human ensembl 74_37 +1 known silent c.504 p.T168 0.996 pfam_Prot_N_Gln_amidohydro_ab_roll pfam_Prot_N_Gln_amidohydro_ab_roll - no_errors WDYHV1 HGNC ENSG00000156795 76 0 0 41 13 24.0741 FER1L6 0 genome.wustl.edu 37 8 124989707 124989707 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 124989707 124989707 G T SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.921 p.Q307H 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 171 0 0 143 31 17.8161 FER1L6-AS2 0 genome.wustl.edu 37 8 125072642 125072642 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 125072642 125072642 T C SNP FER1L6-AS2 ENST00000520031 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FER1L6-AS2 HGNC ENSG00000253868 15 0 0 25 4 13.7931 MTSS1 0 genome.wustl.edu 37 8 125565673 125565673 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 125565673 125565673 G T SNP MTSS1 ENST00000518547 human ensembl 74_37 -1 known missense c.1828 p.P610T 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfscan_WH2_dom - no_errors MTSS1 HGNC ENSG00000170873 93 0 0 55 15 21.4286 KCNQ3 0 genome.wustl.edu 37 8 133152330 133152330 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 133152330 133152330 C A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known missense c.1561 p.A521S 1.000 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 137 1 0.724638 66 23 25.8427 SLC45A4 0 genome.wustl.edu 37 8 142225974 142225974 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 142225974 142225974 C T SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.1825 p.A609T 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 100 0 0 48 9 15.7895 ARC 0 genome.wustl.edu 37 8 143695260 143695260 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 143695260 143695260 G A SNP ARC ENST00000356613 human ensembl 74_37 -1 known missense c.373 p.R125C 0.742 prints_Activity-reg_cytoskelet-assoc prints_Activity-reg_cytoskelet-assoc - no_errors ARC HGNC ENSG00000198576 14 0 0 6 8 57.1429 EPPK1 0 genome.wustl.edu 37 8 144943163 144943163 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 144943163 144943163 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.4259 p.R1420H 0.009 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 89 0 0 63 6 8.69565 PLEC 0 genome.wustl.edu 37 8 145004449 145004449 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145004449 145004449 A G SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.2886 p.G962 0.942 smart_Spectrin/alpha-actinin 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 26 0 0 7 4 36.3636 ENSG00000204791 0 genome.wustl.edu 37 8 145106130 145106130 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145106130 145106130 G A SNP ENSG00000204791 ENST00000528912 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3065J16.6 Clone_based_vega_gene ENSG00000204791 31 0 0 10 9 47.3684 CPSF1 0 genome.wustl.edu 37 8 145624857 145624857 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145624857 145624857 T C SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.1279 p.T427A 0.002 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 38 0 0 24 7 22.5806 SLC39A4 0 genome.wustl.edu 37 8 145640211 145640211 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145640211 145640211 C T SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known missense c.874 p.A292T 0.984 NULL pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 165 0 0 102 21 17.0732 PPP1R16A 0 genome.wustl.edu 37 8 145722764 145722764 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145722764 145722764 C T SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.187 p.L63F 0.014 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 75 0 0 32 17 34.6939 LRRC14 0 genome.wustl.edu 37 8 145745257 145745257 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145745257 145745257 T C SNP LRRC14 ENST00000292524 human ensembl 74_37 +1 known silent c.148 p.L50 0.997 NULL NULL - no_errors LRRC14 HGNC ENSG00000160959 176 0 0 97 7 6.73077 FGF20 0 genome.wustl.edu 37 8 16850775 16850775 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 16850775 16850775 A G SNP FGF20 ENST00000180166 human ensembl 74_37 -1 known missense c.442 p.Y148H 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF20 HGNC ENSG00000078579 255 0 0 173 27 13.5 MTUS1 0 genome.wustl.edu 37 8 17542011 17542011 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 17542011 17542011 G A SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known silent c.2664 p.I888 1.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 455 1 0.219298 220 87 28.3388 MTUS1 0 genome.wustl.edu 37 8 17611350 17611350 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 17611350 17611350 A G SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.1967 p.V656A 0.000 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 133 0 0 127 40 23.9521 PCM1 0 genome.wustl.edu 37 8 17830005 17830005 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 17830005 17830005 G A SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.3752 p.R1251H 0.996 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 179 0 0 104 27 20.6107 CSGALNACT1 0 genome.wustl.edu 37 8 19363078 19363078 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 19363078 19363078 T C SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.268 p.S90G 1.000 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 64 0 0 54 19 26.0274 MYOM2 0 genome.wustl.edu 37 8 2005503 2005503 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 2005503 2005503 C A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.301 p.R101 0.986 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 44 0 0 23 9 28.125 XPO7 0 genome.wustl.edu 37 8 21859729 21859729 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 21859729 21859729 G T SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.2916 p.Q972H 1.000 NULL pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 49 0 0 26 9 25.7143 PHYHIP 0 genome.wustl.edu 37 8 22085854 22085854 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 22085854 22085854 G A SNP PHYHIP ENST00000454243 human ensembl 74_37 -1 known missense c.17 p.T6M 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PHYHIP HGNC ENSG00000168490 19 0 0 12 3 20 PPP3CC 0 genome.wustl.edu 37 8 22332491 22332491 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 22332491 22332491 G A SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known missense c.74 p.R25Q 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 92 0 0 76 22 22.449 CCAR2 0 genome.wustl.edu 37 8 22476529 22476529 + Splice_Site SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 22476529 22476529 G A SNP CCAR2 ENST00000308511 human ensembl 74_37 +1 known splice_site c.2521+1 e18+1 1.000 - - - no_errors CCAR2 HGNC ENSG00000158941 170 0 0 86 19 18.0952 EGR3 0 genome.wustl.edu 37 8 22550321 22550321 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 22550321 22550321 T C SNP EGR3 ENST00000317216 human ensembl 74_37 -1 known missense c.137 p.Y46C 1.000 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR3 HGNC ENSG00000179388 88 0 0 57 26 31.3253 ADAM7 0 genome.wustl.edu 37 8 24333965 24333965 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 24333965 24333965 C A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.653 p.P218H 0.255 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 108 0 0 67 24 26.3736 NEFL 0 genome.wustl.edu 37 8 24811204 24811204 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 24811204 24811204 G A SNP NEFL ENST00000221169 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors NEFL HGNC ENSG00000104725 154 0 0 64 18 21.9512 DOCK5 0 genome.wustl.edu 37 8 25158099 25158099 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 25158099 25158099 T C SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.772 p.Y258H 1.000 NULL 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 32 0 0 26 9 25.7143 EXTL3 0 genome.wustl.edu 37 8 28575186 28575186 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 28575186 28575186 G A SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.1610 p.R537H 1.000 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 147 0 0 61 24 28.2353 CSMD1 0 genome.wustl.edu 37 8 2944619 2944619 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 2944619 2944619 C A SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.7477 p.A2493S 1.000 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 CSMD1 HGNC ENSG00000183117 57 0 0 32 6 15.7895 RBPMS 0 genome.wustl.edu 37 8 30402081 30402081 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 30402081 30402081 G A SNP RBPMS ENST00000339877 human ensembl 74_37 +1 known silent c.468 p.A156 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 243 1 0.409836 131 37 22.0238 NRG1 0 genome.wustl.edu 37 8 32463104 32463104 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 32463104 32463104 A G SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known silent c.303 p.K101 0.992 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 206 0 0 148 34 18.6813 NRG1 0 genome.wustl.edu 37 8 32613931 32613931 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 32613931 32613931 A G SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.838 p.K280E 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 235 0 0 113 40 26.1438 CSMD1 0 genome.wustl.edu 37 8 3263588 3263588 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 3263588 3263588 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.2230 p.G744R 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 CSMD1 HGNC ENSG00000183117 80 0 0 48 27 36 KCNU1 0 genome.wustl.edu 37 8 36694371 36694371 + Missense_Mutation SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 36694371 36694371 G C SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known missense c.1426 p.A476P 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 187 0 0 115 41 26.2821 ERLIN2 0 genome.wustl.edu 37 8 37609162 37609162 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 37609162 37609162 A G SNP ERLIN2 ENST00000276461 human ensembl 74_37 +1 known missense c.668 p.Q223R 1.000 NULL pfam_Band_7,smart_Band_7 - no_errors ERLIN2 HGNC ENSG00000147475 86 0 0 45 10 18.1818 GPR124 0 genome.wustl.edu 37 8 37672412 37672412 + Splice_Site SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 37672412 37672412 A G SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known splice_site c.267-2 e2-2 1.000 - - - no_errors GPR124 HGNC ENSG00000020181 160 1 0.621118 71 20 21.978 RAB11FIP1 0 genome.wustl.edu 37 8 37730469 37730469 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 37730469 37730469 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.1851 p.L617 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 166 0 0 108 39 26.5306 ADRB3 0 genome.wustl.edu 37 8 37823533 37823533 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 37823533 37823533 C T SNP ADRB3 ENST00000345060 human ensembl 74_37 -1 known missense c.455 p.R152H 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADR_fam pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB3_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB3 HGNC ENSG00000188778 10 0 0 9 4 30.7692 FGFR1 0 genome.wustl.edu 37 8 38282121 38282121 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 38282121 38282121 C T SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.935 p.S312N 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 250 0 0 118 37 23.871 TACC1 0 genome.wustl.edu 37 8 38677178 38677178 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 38677178 38677178 C A SNP TACC1 ENST00000379931 human ensembl 74_37 +1 known missense c.416 p.P139H 0.004 NULL pfam_TACC - no_errors TACC1 HGNC ENSG00000147526 148 0 0 93 36 27.907 ADAM9 0 genome.wustl.edu 37 8 38913110 38913110 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 38913110 38913110 T C SNP ADAM9 ENST00000487273 human ensembl 74_37 +1 known silent c.1410 p.G470 0.902 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM9 HGNC ENSG00000168615 183 1 0.543478 127 36 22.0859 ST18 0 genome.wustl.edu 37 8 53025828 53025828 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 53025828 53025828 C A SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.3074 p.R1025L 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 118 1 0.840336 88 18 16.9811 NPBWR1 0 genome.wustl.edu 37 8 53852546 53852546 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 53852546 53852546 T C SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.79 p.S27P 0.516 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 32 0 0 27 4 12.9032 TGS1 0 genome.wustl.edu 37 8 56725669 56725669 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 56725669 56725669 A G SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known missense c.2431 p.I811V 0.990 pfam_RNA_cap_Gua-N2-MeTrfase pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 56 0 0 34 14 29.1667 MOS 0 genome.wustl.edu 37 8 57026167 57026167 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 57026167 57026167 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known silent c.375 p.T125 0.306 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 MOS HGNC ENSG00000172680 194 0 0 123 43 25.9036 MOS 0 genome.wustl.edu 37 8 57026186 57026186 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 57026186 57026186 C T SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.356 p.R119H 0.998 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 MOS HGNC ENSG00000172680 207 0 0 135 48 26.2295 CHCHD7 0 genome.wustl.edu 37 8 57128951 57128951 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 57128951 57128951 C A SNP CHCHD7 ENST00000523532 human ensembl 74_37 +1 known missense c.85 p.L29M 0.000 NULL NULL - no_errors CHCHD7 HGNC ENSG00000170791 49 0 0 45 14 23.7288 FAM110B 0 genome.wustl.edu 37 8 59059360 59059360 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 59059360 59059360 G A SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known missense c.571 p.E191K 0.996 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 107 0 0 54 16 22.8571 CYP7A1 0 genome.wustl.edu 37 8 59409279 59409279 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 59409279 59409279 A G SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known silent c.792 p.N264 0.991 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 CYP7A1 HGNC ENSG00000167910 305 0 0 174 64 26.8908 ERICH1 0 genome.wustl.edu 37 8 623502 623502 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 623502 623502 G A SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known missense c.850 p.R284W 0.005 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 269 0 0 188 64 25.3968 ERICH1 0 genome.wustl.edu 37 8 642608 642608 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 642608 642608 A G SNP ERICH1 ENST00000262109 human ensembl 74_37 -1 known silent c.174 p.T58 0.000 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 76 0 0 34 20 37.037 SGK223 0 genome.wustl.edu 37 8 8234511 8234511 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 8234511 8234511 C T SNP SGK223 ENST00000330777 human ensembl 74_37 -1 known missense c.1408 p.A470T 0.836 NULL 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 62 0 0 47 8 14.5455 ENSG00000253374 0 genome.wustl.edu 37 8 82434010 82434010 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 82434010 82434010 C T SNP ENSG00000253374 ENST00000518637 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-257P3.3 Clone_based_vega_gene ENSG00000253374 76 0 0 65 28 30.1075 CA2 0 genome.wustl.edu 37 8 86377546 86377546 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 86377546 86377546 G A SNP CA2 ENST00000285379 human ensembl 74_37 +1 known missense c.80 p.R27H 0.681 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 122 0 0 98 20 16.9492 MFHAS1 0 genome.wustl.edu 37 8 8748510 8748510 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 8748510 8748510 C T SNP MFHAS1 ENST00000276282 human ensembl 74_37 -1 known missense c.2059 p.A687T 0.994 NULL pfam_Leu-rich_rpt,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 54 0 0 33 4 10.8108 FAM92A1 0 genome.wustl.edu 37 8 94713595 94713595 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 94713595 94713595 C T SNP FAM92A1 ENST00000518322 human ensembl 74_37 +1 known missense c.170 p.A57V 0.512 pfam_FAM92 pfam_FAM92 - no_errors FAM92A1 HGNC ENSG00000188343 73 0 0 29 8 21.6216 RBM12B 0 genome.wustl.edu 37 8 94747361 94747361 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 94747361 94747361 A G SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known silent c.1278 p.A426 0.032 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 279 0 0 214 89 29.3729 INTS8 0 genome.wustl.edu 37 8 95877854 95877854 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 95877854 95877854 C T SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known nonsense c.2197 p.R733* 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 274 1 0.363636 193 75 27.9851 ENSG00000272509 0 genome.wustl.edu 37 8 95897143 95897143 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 95897143 95897143 C T SNP ENSG00000272509 ENST00000605911 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-347C18.5 Clone_based_vega_gene ENSG00000272509 11 0 0 7 4 36.3636 TSPYL5 0 genome.wustl.edu 37 8 98290023 98290023 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 98290023 98290023 C T SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.50 p.G17D 1.000 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 33 0 0 15 3 16.6667 POP1 0 genome.wustl.edu 37 8 99146847 99146847 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 99146847 99146847 G A SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.971 p.S324N 0.026 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 144 0 0 118 13 9.92366 POP1 0 genome.wustl.edu 37 8 99158813 99158813 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 99158813 99158813 C T SNP POP1 ENST00000349693 human ensembl 74_37 +1 known nonsense c.1612 p.Q538* 1.000 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 190 0 0 121 46 27.5449 STK3 0 genome.wustl.edu 37 8 99761554 99761554 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 99761554 99761554 A G SNP STK3 ENST00000419617 human ensembl 74_37 -1 known missense c.301 p.Y101H 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_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 162 0 0 105 33 23.913 GRIN3A 0 genome.wustl.edu 37 9 104449268 104449268 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 104449268 104449268 T C SNP GRIN3A ENST00000361820 human ensembl 74_37 -1 known missense c.914 p.Q305R 0.926 superfamily_Peripla_BP_I pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 134 0 0 57 35 38.0435 ZNF462 0 genome.wustl.edu 37 9 109689899 109689899 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 109689899 109689899 C A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.3706 p.L1236I 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 467 0 0 205 96 31.8937 PTBP3 0 genome.wustl.edu 37 9 114986256 114986256 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 114986256 114986256 G A SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known missense c.1552 p.R518C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC ENSG00000119314 122 0 0 86 30 25.8621 SLC46A2 0 genome.wustl.edu 37 9 115652551 115652551 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 115652551 115652551 G A SNP SLC46A2 ENST00000374228 human ensembl 74_37 -1 known silent c.411 p.Y137 0.730 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC ENSG00000119457 87 0 0 42 19 31.1475 WDR31 0 genome.wustl.edu 37 9 116079053 116079053 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 116079053 116079053 T G SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known missense c.1080 p.E360D 0.120 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR31 HGNC ENSG00000148225 173 0 0 89 5 5.31915 COL27A1 0 genome.wustl.edu 37 9 116999992 116999992 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 116999992 116999992 C A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known silent c.2724 p.P908 0.906 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 84 0 0 33 6 15.3846 AKNA 0 genome.wustl.edu 37 9 117124104 117124104 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 117124104 117124104 C T SNP AKNA ENST00000307564 human ensembl 74_37 -1 known silent c.2004 p.P668 0.000 pfam_TF_AT-hook pfam_TF_AT-hook - no_errors AKNA HGNC ENSG00000106948 194 0 0 63 33 34.375 ASTN2 0 genome.wustl.edu 37 9 119188283 119188283 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 119188283 119188283 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.3867 p.R1289 0.013 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 72 0 0 24 8 25 NEK6 0 genome.wustl.edu 37 9 127074912 127074912 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 127074912 127074912 C T SNP NEK6 ENST00000373600 human ensembl 74_37 +1 known missense c.317 p.A106V 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK6 HGNC ENSG00000119408 54 0 0 23 4 14.8148 SLC2A8 0 genome.wustl.edu 37 9 130167812 130167812 + Missense_Mutation SNP T T A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 130167812 130167812 T A SNP SLC2A8 ENST00000373371 human ensembl 74_37 +1 known missense c.1264 p.F422I 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt - no_errors SLC2A8 HGNC ENSG00000136856 69 0 0 35 4 10.2564 C9orf117 0 genome.wustl.edu 37 9 130469311 130469311 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 130469311 130469311 A G SNP C9orf117 ENST00000373295 human ensembl 74_37 +1 known missense c.1 p.M1V 1.000 NULL NULL - no_errors C9orf117 HGNC ENSG00000160401 247 0 0 90 25 21.7391 LCN2 0 genome.wustl.edu 37 9 130913980 130913980 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 130913980 130913980 G A SNP LCN2 ENST00000372998 human ensembl 74_37 +1 known silent c.345 p.T115 0.002 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 99 0 0 37 18 32.7273 COQ4 0 genome.wustl.edu 37 9 131095136 131095136 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 131095136 131095136 C T SNP COQ4 ENST00000300452 human ensembl 74_37 +1 known silent c.540 p.I180 0.983 pfam_Coq4 pfam_Coq4 - no_errors COQ4 HGNC ENSG00000167113 180 0 0 58 24 29.2683 C9orf114 0 genome.wustl.edu 37 9 131586433 131586433 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 131586433 131586433 G A SNP C9orf114 ENST00000361256 human ensembl 74_37 -1 known missense c.832 p.P278S 1.000 pfam_Put_MeTrfase pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold - no_errors C9orf114 HGNC ENSG00000198917 62 0 0 9 4 30.7692 DOLK 0 genome.wustl.edu 37 9 131708573 131708573 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 131708573 131708573 C T SNP DOLK ENST00000372586 human ensembl 74_37 -1 known missense c.1010 p.R337Q 1.000 NULL NULL - no_errors DOLK HGNC ENSG00000175283 483 0 0 138 79 36.4055 NUP214 0 genome.wustl.edu 37 9 134022878 134022878 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 134022878 134022878 A G SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known silent c.1950 p.G650 0.136 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 279 0 0 75 38 33.6283 ENSG00000212395 0 genome.wustl.edu 37 9 134658291 134658291 + RNA SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 134658291 134658291 T C SNP ENSG00000212395 ENST00000391093 human ensembl 74_37 -1 novel rna NULL NULL 0.019 - - - no_errors SNORA67 RFAM ENSG00000212395 25 0 0 11 6 35.2941 DDX31 0 genome.wustl.edu 37 9 135522411 135522411 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 135522411 135522411 A G SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known silent c.1317 p.D439 0.876 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 125 0 0 52 21 28.7671 ADAMTS13 0 genome.wustl.edu 37 9 136320470 136320470 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 136320470 136320470 C A SNP ADAMTS13 ENST00000371929 human ensembl 74_37 +1 known missense c.3313 p.Q1105K 0.009 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB_dom,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS13 HGNC ENSG00000160323 208 0 0 86 49 36.2963 BRD3 0 genome.wustl.edu 37 9 136918511 136918511 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 136918511 136918511 C T SNP BRD3 ENST00000303407 human ensembl 74_37 -1 known missense c.89 p.S30N 0.797 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD3 HGNC ENSG00000169925 102 0 0 21 13 38.2353 COL5A1 0 genome.wustl.edu 37 9 137644457 137644457 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 137644457 137644457 G A SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1685 p.G562D 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 68 0 0 17 6 26.087 KCNT1 0 genome.wustl.edu 37 9 138678163 138678163 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 138678163 138678163 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.3298 p.A1100T 0.025 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 42 0 0 6 3 33.3333 QSOX2 0 genome.wustl.edu 37 9 139107139 139107139 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 139107139 139107139 T C SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.1221 p.I407M 0.997 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 96 0 0 30 22 42.3077 DNLZ 0 genome.wustl.edu 37 9 139256601 139256601 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 139256601 139256601 C T SNP DNLZ ENST00000371738 human ensembl 74_37 -1 known missense c.400 p.E134K 1.000 pfam_Znf_DNL-typ pfam_Znf_DNL-typ - no_errors DNLZ HGNC ENSG00000213221 78 0 0 19 9 32.1429 SEC16A 0 genome.wustl.edu 37 9 139353986 139353986 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 139353986 139353986 G A SNP SEC16A ENST00000313050 human ensembl 74_37 -1 known missense c.5213 p.A1738V 1.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 24 0 0 8 3 27.2727 PHPT1 0 genome.wustl.edu 37 9 139743751 139743751 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 139743751 139743751 A G SNP PHPT1 ENST00000492540 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PHPT1 HGNC ENSG00000054148 18 0 0 12 4 25 LCNL1 0 genome.wustl.edu 37 9 139879360 139879360 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 139879360 139879360 A T SNP LCNL1 ENST00000408973 human ensembl 74_37 +1 known missense c.392 p.H131L 0.000 superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCNL1 HGNC ENSG00000214402 9 0 0 4 5 55.5556 CACNA1B 0 genome.wustl.edu 37 9 140901268 140901268 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 140901268 140901268 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.2027 p.S676L 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 44 0 0 18 5 21.7391 CACNA1B 0 genome.wustl.edu 37 9 140952659 140952659 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 140952659 140952659 A C SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.4268 p.Q1423P 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 207 0 0 85 29 25.4386 FREM1 0 genome.wustl.edu 37 9 14819329 14819329 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 14819329 14819329 G A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.2452 p.R818W 0.046 NULL pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 86 0 0 33 12 26.6667 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 273 0 0 151 12 7.36196 CNTLN 0 genome.wustl.edu 37 9 17394904 17394904 + Nonsense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 17394904 17394904 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known nonsense c.2452 p.R818* 0.011 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 159 0 0 54 26 32.5 CAAP1 0 genome.wustl.edu 37 9 26842399 26842399 + Missense_Mutation SNP A A C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 26842399 26842399 A C SNP CAAP1 ENST00000333916 human ensembl 74_37 -1 known missense c.986 p.V329G 1.000 NULL NULL - no_errors CAAP1 HGNC ENSG00000120159 113 0 0 79 38 32.4786 TEK 0 genome.wustl.edu 37 9 27212816 27212816 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 27212816 27212816 C T SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.2798 p.A933V 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_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 76 0 0 40 7 14.8936 DDX58 0 genome.wustl.edu 37 9 32481366 32481366 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 32481366 32481366 G A SNP DDX58 ENST00000379883 human ensembl 74_37 -1 known missense c.1610 p.A537V 0.989 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 98 0 0 45 10 18.1818 NOL6 0 genome.wustl.edu 37 9 33466661 33466661 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 33466661 33466661 T C SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.1997 p.Y666C 0.999 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 115 0 0 68 4 5.55556 PTENP1 0 genome.wustl.edu 37 9 33675379 33675379 + RNA SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 33675379 33675379 C A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors PTENP1 HGNC ENSG00000237984 26 0 0 37 6 13.9535 PTENP1 0 genome.wustl.edu 37 9 33675400 33675400 + RNA SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 33675400 33675400 G A SNP PTENP1 ENST00000532280 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC ENSG00000237984 35 0 0 55 5 8.33333 VCP 0 genome.wustl.edu 37 9 35062113 35062113 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 35062113 35062113 C T SNP VCP ENST00000358901 human ensembl 74_37 -1 known missense c.968 p.R323H 1.000 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 160 0 0 80 27 25.2336 FAM166B 0 genome.wustl.edu 37 9 35563010 35563010 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 35563010 35563010 A G SNP FAM166B ENST00000447837 human ensembl 74_37 -1 known silent c.354 p.S118 0.015 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 61 0 0 32 11 25.5814 ZBTB5 0 genome.wustl.edu 37 9 37442081 37442081 + Silent SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 37442081 37442081 T C SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known silent c.468 p.S156 0.657 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 ZBTB5 HGNC ENSG00000168795 175 0 0 82 38 31.6667 FRMPD1 0 genome.wustl.edu 37 9 37744566 37744566 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 37744566 37744566 A G SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.2537 p.Y846C 1.000 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 112 0 0 46 19 29.2308 ANKRD18A 0 genome.wustl.edu 37 9 38601196 38601196 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 38601196 38601196 G A SNP ANKRD18A ENST00000399703 human ensembl 74_37 -1 known missense c.868 p.H290Y 0.004 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18A HGNC ENSG00000180071 9 0 0 1 3 75 CNTNAP3B 0 genome.wustl.edu 37 9 43861114 43861114 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 43861114 43861114 C T SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.1988 p.A663V 0.146 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 17 0 0 3 2 40 ANKRD20A4 0 genome.wustl.edu 37 9 69420380 69420380 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 69420380 69420380 A G SNP ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known missense c.1270 p.T424A 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 218 0 0 99 10 9.17431 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 92 0 0 76 9 10.5882 APBA1 0 genome.wustl.edu 37 9 72131901 72131901 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 72131901 72131901 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.226 p.A76T 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 16 0 0 10 2 16.6667 TRPM3 0 genome.wustl.edu 37 9 73399051 73399051 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 73399051 73399051 G A SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.1199 p.A400V 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 119 0 0 44 26 37.1429 TMEM2 0 genome.wustl.edu 37 9 74309493 74309493 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 74309493 74309493 A G SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.3628 p.Y1210H 1.000 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 60 0 0 34 7 17.0732 TMC1 0 genome.wustl.edu 37 9 75406888 75406888 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 75406888 75406888 C T SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known silent c.1311 p.I437 0.935 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 259 0 0 208 15 6.72646 TRPM6 0 genome.wustl.edu 37 9 77454951 77454951 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 77454951 77454951 C T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.533 p.G178D 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 154 1 0.645161 51 39 43.3333 PRUNE2 0 genome.wustl.edu 37 9 79229502 79229502 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 79229502 79229502 A G SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.8177 p.L2726P 1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 116 0 0 46 7 13.2075 FOXB2 0 genome.wustl.edu 37 9 79635344 79635344 + Silent SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 79635344 79635344 G T SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.774 p.A258 0.006 prints_Antifreeze_1 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 50 0 0 13 14 51.8519 FOXB2 0 genome.wustl.edu 37 9 79635350 79635350 + Silent SNP G G C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 79635350 79635350 G C SNP FOXB2 ENST00000376708 human ensembl 74_37 +1 known silent c.780 p.A260 0.585 prints_Antifreeze_1 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head,prints_Antifreeze_1 - no_errors FOXB2 HGNC ENSG00000204612 56 0 0 15 16 51.6129 SPATA31C1 0 genome.wustl.edu 37 9 90535618 90535618 + RNA SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 90535618 90535618 T G SNP SPATA31C1 ENST00000602681 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31C1 HGNC ENSG00000230246 249 0 0 130 56 30.1075 ROR2 0 genome.wustl.edu 37 9 94487069 94487069 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 94487069 94487069 C T SNP ROR2 ENST00000375708 human ensembl 74_37 -1 known silent c.1707 p.S569 0.245 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR2 HGNC ENSG00000169071 66 0 0 28 15 34.8837 NOL8 0 genome.wustl.edu 37 9 95077545 95077545 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 95077545 95077545 A G SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known silent c.1362 p.S454 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 47 0 0 28 16 36.3636 OGN 0 genome.wustl.edu 37 9 95152283 95152283 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 95152283 95152283 A G SNP OGN ENST00000262551 human ensembl 74_37 -1 known silent c.483 p.G161 0.630 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors OGN HGNC ENSG00000106809 96 0 0 48 13 21.3115 ZNF484 0 genome.wustl.edu 37 9 95618525 95618525 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 95618525 95618525 T C SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known missense c.97 p.S33G 0.987 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 198 0 0 71 42 37.1681 PTPDC1 0 genome.wustl.edu 37 9 96863768 96863768 + RNA SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 96863768 96863768 A G SNP PTPDC1 ENST00000467049 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PTPDC1 HGNC ENSG00000158079 19 0 0 11 7 38.8889 DMRT3 0 genome.wustl.edu 37 9 990229 990229 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 990229 990229 G A SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known missense c.643 p.E215K 0.972 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 119 0 0 55 25 31.25 CDC14B 0 genome.wustl.edu 37 9 99272005 99272005 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 99272005 99272005 G A SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known silent c.1410 p.G470 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14B HGNC ENSG00000081377 122 0 0 62 30 32.6087 GPRASP2 0 genome.wustl.edu 37 X 101971716 101971716 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 101971716 101971716 T C SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.1919 p.V640A 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 44 0 0 20 51 71.831 H2BFWT 0 genome.wustl.edu 37 X 103267750 103267750 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 103267750 103267750 A G SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known silent c.483 p.A161 0.098 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 45 0 0 7 17 70.8333 CT47B1 0 genome.wustl.edu 37 X 120009221 120009221 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 120009221 120009221 C T SNP CT47B1 ENST00000371311 human ensembl 74_37 -1 known missense c.304 p.E102K 0.000 NULL NULL - no_errors CT47B1 HGNC ENSG00000236446 28 0 0 8 15 65.2174 GLUD2 0 genome.wustl.edu 37 X 120182454 120182454 + Missense_Mutation SNP G G T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 120182454 120182454 G T SNP GLUD2 ENST00000328078 human ensembl 74_37 +1 known missense c.916 p.V306F 0.997 pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC ENSG00000182890 181 0 0 51 95 65.0685 STAG2 0 genome.wustl.edu 37 X 123164875 123164875 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 123164875 123164875 C A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.188 p.P63H 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 75 0 0 31 23 42.5926 STAG2 0 genome.wustl.edu 37 X 123185062 123185062 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 123185062 123185062 G A SNP STAG2 ENST00000218089 human ensembl 74_37 +1 known missense c.1109 p.R370Q 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC ENSG00000101972 33 0 0 8 19 70.3704 DCAF12L1 0 genome.wustl.edu 37 X 125686323 125686323 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 125686323 125686323 C T SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.269 p.R90H 0.998 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 82 0 0 14 25 64.1026 OCRL 0 genome.wustl.edu 37 X 128723914 128723914 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 128723914 128723914 C T SNP OCRL ENST00000371113 human ensembl 74_37 +1 known silent c.2562 p.S854 0.910 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC ENSG00000122126 155 0 0 28 64 69.5652 BCORL1 0 genome.wustl.edu 37 X 129185910 129185910 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 129185910 129185910 T C SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.4994 p.M1665T 0.001 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 161 0 0 30 69 69.697 CSF2RA 0 genome.wustl.edu 37 X 1428507 1428507 + RNA SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 1428507 1428507 C T SNP CSF2RA ENST00000498153 human ensembl 74_37 +1 known rna NULL NULL 0.031 - - - no_errors CSF2RA HGNC ENSG00000198223 83 0 0 28 23 45.098 CNGA2 0 genome.wustl.edu 37 X 150908125 150908125 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 150908125 150908125 C T SNP CNGA2 ENST00000329903 human ensembl 74_37 +1 known missense c.295 p.R99C 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC ENSG00000183862 64 0 0 15 23 60.5263 PLXNB3 0 genome.wustl.edu 37 X 153043732 153043732 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 153043732 153043732 A T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.5495 p.K1832I 1.000 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 67 0 0 10 16 61.5385 ASB11 0 genome.wustl.edu 37 X 15306176 15306176 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 15306176 15306176 C T SNP ASB11 ENST00000480796 human ensembl 74_37 -1 known missense c.674 p.G225D 0.962 superfamily_Ankyrin_rpt-contain_dom,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 - no_errors ASB11 HGNC ENSG00000165192 73 0 0 14 33 70.2128 AVPR2 0 genome.wustl.edu 37 X 153172147 153172147 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 153172147 153172147 G A SNP AVPR2 ENST00000337474 human ensembl 74_37 +1 known missense c.1081 p.A361T 0.986 prints_Vprsn_rcpt_V2 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR2 HGNC ENSG00000126895 54 0 0 12 31 72.093 ATP6AP1 0 genome.wustl.edu 37 X 153663742 153663742 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 153663742 153663742 G A SNP ATP6AP1 ENST00000369762 human ensembl 74_37 +1 known missense c.1094 p.S365N 1.000 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 65 0 0 5 20 80 GDI1 0 genome.wustl.edu 37 X 153670511 153670511 + Missense_Mutation SNP T T C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 153670511 153670511 T C SNP GDI1 ENST00000447750 human ensembl 74_37 +1 known missense c.1045 p.Y349H 1.000 pfam_GDP_dissociation_inhibitor,prints_RabGDI pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor - no_errors GDI1 HGNC ENSG00000203879 109 0 0 29 15 34.0909 ASMTL 0 genome.wustl.edu 37 X 1546793 1546793 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 1546793 1546793 C A SNP ASMTL ENST00000381317 human ensembl 74_37 -1 known missense c.731 p.G244V 0.000 NULL pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 146 1 0.680272 65 27 29.3478 CDKL5 0 genome.wustl.edu 37 X 18622715 18622715 + Silent SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 18622715 18622715 A G SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known silent c.1671 p.S557 0.475 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 CDKL5 HGNC ENSG00000008086 118 0 0 58 34 36.9565 PTCHD1 0 genome.wustl.edu 37 X 23410726 23410726 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 23410726 23410726 C T SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.1091 p.T364I 1.000 pfam_Patched,pfscan_SSD pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 50 0 0 24 25 51.0204 PTCHD1 0 genome.wustl.edu 37 X 23411676 23411676 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 23411676 23411676 G A SNP PTCHD1 ENST00000379361 human ensembl 74_37 +1 known missense c.2041 p.V681I 0.995 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 83 0 0 52 4 7.14286 XG 0 genome.wustl.edu 37 X 2707735 2707735 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 2707735 2707735 G A SNP XG ENST00000419513 human ensembl 74_37 +1 known missense c.241 p.G81S 0.001 pfam_CD99L2 pfam_CD99L2 - no_errors XG HGNC ENSG00000124343 11 0 0 5 2 28.5714 PPP2R3B 0 genome.wustl.edu 37 X 306359 306359 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 306359 306359 A T SNP PPP2R3B ENST00000390665 human ensembl 74_37 -1 known missense c.928 p.F310I 0.995 NULL pfscan_EF_hand_dom - no_errors PPP2R3B HGNC ENSG00000167393 255 0 0 63 24 27.5862 BCOR 0 genome.wustl.edu 37 X 39933822 39933822 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 39933822 39933822 C T SNP BCOR ENST00000378444 human ensembl 74_37 -1 known silent c.777 p.S259 0.008 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 31 0 0 2 9 81.8182 MED14 0 genome.wustl.edu 37 X 40547715 40547715 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 40547715 40547715 C T SNP MED14 ENST00000324817 human ensembl 74_37 -1 known missense c.2048 p.R683H 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC ENSG00000180182 31 0 0 7 19 73.0769 SLC38A5 0 genome.wustl.edu 37 X 48320459 48320459 + Silent SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 48320459 48320459 G A SNP SLC38A5 ENST00000317669 human ensembl 74_37 -1 known silent c.705 p.L235 0.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC ENSG00000017483 43 0 0 14 17 54.8387 KCND1 0 genome.wustl.edu 37 X 48826019 48826019 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 48826019 48826019 C T SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known silent c.660 p.E220 0.796 NULL 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 23 0 0 6 11 64.7059 GPKOW 0 genome.wustl.edu 37 X 48974062 48974062 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 48974062 48974062 C T SNP GPKOW ENST00000156109 human ensembl 74_37 -1 known missense c.669 p.M223I 0.000 NULL pfam_KOW,pfam_G_patch_dom,superfamily_Translation_prot_SH3-like,smart_G_patch_dom,smart_KOW,pfscan_G_patch_dom - no_errors GPKOW HGNC ENSG00000068394 34 0 0 12 14 53.8462 SHROOM4 0 genome.wustl.edu 37 X 50350731 50350731 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 50350731 50350731 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known silent c.3411 p.E1137 0.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 19 0 0 1 6 85.7143 MAGED1 0 genome.wustl.edu 37 X 51639798 51639798 + Silent SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 51639798 51639798 C A SNP MAGED1 ENST00000375695 human ensembl 74_37 +1 known silent c.1215 p.I405 0.934 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 69 0 0 23 4 14.8148 AR 0 genome.wustl.edu 37 X 66765883 66765883 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 66765883 66765883 G A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.895 p.A299T 0.001 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 50 0 0 9 24 72.7273 FAM155B 0 genome.wustl.edu 37 X 68725963 68725963 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 68725963 68725963 C T SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known missense c.838 p.R280W 1.000 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 14 0 0 2 7 77.7778 HDHD1 0 genome.wustl.edu 37 X 6995384 6995384 + Silent SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 6995384 6995384 C T SNP HDHD1 ENST00000424830 human ensembl 74_37 -1 known silent c.456 p.E152 0.001 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA - no_errors HDHD1 HGNC ENSG00000130021 42 0 0 7 12 63.1579 NLGN3 0 genome.wustl.edu 37 X 70368014 70368014 + Missense_Mutation SNP G G A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 70368014 70368014 G A SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known missense c.415 p.E139K 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 64 0 0 13 34 72.3404 ERCC6L 0 genome.wustl.edu 37 X 71425719 71425719 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 71425719 71425719 A T SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.2898 p.N966K 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 92 0 0 33 38 53.5211 STS 0 genome.wustl.edu 37 X 7252076 7252076 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 7252076 7252076 C T SNP STS ENST00000217961 human ensembl 74_37 +1 known missense c.1306 p.R436C 0.004 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors STS HGNC ENSG00000101846 73 0 0 37 11 22.9167 ITM2A 0 genome.wustl.edu 37 X 78622666 78622666 + Missense_Mutation SNP T T G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 78622666 78622666 T G SNP ITM2A ENST00000373298 human ensembl 74_37 -1 known missense c.47 p.E16A 0.997 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2A HGNC ENSG00000078596 21 0 0 5 2 28.5714 BRWD3 0 genome.wustl.edu 37 X 79962956 79962956 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 79962956 79962956 A G SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.2522 p.V841A 0.998 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 26 0 0 24 3 11.1111 KAL1 0 genome.wustl.edu 37 X 8502392 8502392 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 8502392 8502392 C T SNP KAL1 ENST00000262648 human ensembl 74_37 -1 known missense c.1952 p.R651Q 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_WAP-type_4-diS_core - no_errors KAL1 HGNC ENSG00000011201 34 0 0 10 11 52.381 CPXCR1 0 genome.wustl.edu 37 X 88009023 88009023 + Missense_Mutation SNP A A T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 88009023 88009023 A T SNP CPXCR1 ENST00000276127 human ensembl 74_37 +1 known missense c.608 p.H203L 0.000 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC ENSG00000147183 31 0 0 12 20 62.5 PCDH11X 0 genome.wustl.edu 37 X 91873260 91873260 + Missense_Mutation SNP C C A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 91873260 91873260 C A SNP PCDH11X ENST00000298274 human ensembl 74_37 +1 known missense c.3254 p.T1085K 0.997 NULL pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC ENSG00000102290 14 0 0 3 9 75 PCDH19 0 genome.wustl.edu 37 X 99663109 99663109 + Missense_Mutation SNP C C T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 99663109 99663109 C T SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known missense c.487 p.V163M 0.993 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 PCDH19 HGNC ENSG00000165194 79 0 0 15 39 72.2222 USP9Y 0 genome.wustl.edu 37 Y 14898560 14898560 + Missense_Mutation SNP A A G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 Y 14898560 14898560 A G SNP USP9Y ENST00000338981 human ensembl 74_37 +1 known missense c.3388 p.M1130V 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67 - no_errors USP9Y HGNC ENSG00000114374 64 0 0 30 10 25 SASS6 0 genome.wustl.edu 37 1 100588802 100588802 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 100588802 100588802 A - DEL SASS6 ENST00000287482 human ensembl 74_37 -1 known frame_shift_del c.170 p.L57fs 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 45 0 0 35 6 14.6341 PRPF38B 0 genome.wustl.edu 37 1 109235175 109235175 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 109235175 109235175 C - DEL PRPF38B ENST00000467302 human ensembl 74_37 +1 known rna NULL NULL 0.833 - - - no_errors PRPF38B HGNC ENSG00000134186 8 0 0 8 3 27.2727 CELSR2 0 genome.wustl.edu 37 1 109815971 109815971 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 109815971 109815971 C - DEL CELSR2 ENST00000498157 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CELSR2 HGNC ENSG00000143126 56 0 0 25 9 26.4706 GSTM4 0 genome.wustl.edu 37 1 110200087 110200088 + RNA DEL TA TA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 110200087 110200088 TA - DEL GSTM4 ENST00000461767 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors GSTM4 HGNC ENSG00000168765 52 0 0 38 27 41.5385 AP4B1-AS1 0 genome.wustl.edu 37 1 114443731 114443733 + RNA DEL AAT AAT - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAT AAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 114443731 114443733 AAT - DEL AP4B1-AS1 ENST00000419536 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.003:0.002 - - - no_errors AP4B1-AS1 HGNC ENSG00000226167 17 0 0 19 2 9.52381 B3GALT6 0 genome.wustl.edu 37 1 1168239 1168240 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 1168239 1168240 - G INS B3GALT6 ENST00000379198 human ensembl 74_37 +1 known frame_shift_ins c.581_582 p.R197fs 0.984:0.002 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT6 HGNC ENSG00000176022 26 0 0 4 3 42.8571 LOC101927345 0 genome.wustl.edu 37 1 143378148 143378148 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 143378148 143378148 A - DEL LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 163 0 0 72 15 17.2414 ARNT 0 genome.wustl.edu 37 1 150789283 150789283 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 150789283 150789283 G - DEL ARNT ENST00000358595 human ensembl 74_37 -1 known frame_shift_del c.1783 p.R595fs 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat,tigrfam_PAS - no_errors ARNT HGNC ENSG00000143437 188 0 0 64 18 21.9512 RUSC1-AS1 0 genome.wustl.edu 37 1 155287631 155287631 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 155287631 155287631 A - DEL RUSC1-AS1 ENST00000446880 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 13 0 0 9 4 30.7692 ASH1L 0 genome.wustl.edu 37 1 155308000 155308000 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 155308000 155308000 T - DEL ASH1L ENST00000368346 human ensembl 74_37 -1 known frame_shift_del c.8698 p.T2900fs 0.002 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 213 1 0.46729 94 36 27.6923 GON4L 0 genome.wustl.edu 37 1 155823172 155823172 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 155823172 155823172 T - DEL GON4L ENST00000368331 human ensembl 74_37 -1 known frame_shift_del c.400 p.M134fs 0.269 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 222 1 0.44843 131 61 31.7708 INSRR 0 genome.wustl.edu 37 1 156821914 156821914 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 156821914 156821914 C - DEL INSRR ENST00000368195 human ensembl 74_37 -1 known frame_shift_del c.707 p.G236fs 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom - no_errors INSRR HGNC ENSG00000027644 107 0 0 42 19 31.1475 SPEN 0 genome.wustl.edu 37 1 16255883 16255883 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 16255883 16255883 A - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.3148 p.I1052fs 1.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 181 0 0 79 12 13.1868 SPEN 0 genome.wustl.edu 37 1 16258889 16258889 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 16258889 16258889 A - DEL SPEN ENST00000375759 human ensembl 74_37 +1 known frame_shift_del c.6154 p.N2053fs 0.665 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 142 1 0.699301 57 18 24 PAX7 0 genome.wustl.edu 37 1 18958157 18958157 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 18958157 18958157 C - DEL PAX7 ENST00000375375 human ensembl 74_37 +1 known frame_shift_del c.60 p.R22fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,pfam_Pax7,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX7 HGNC ENSG00000009709 41 0 0 22 5 18.5185 UBR4 0 genome.wustl.edu 37 1 19505634 19505635 + Frame_Shift_Del DEL AG AG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 19505634 19505635 AG - DEL UBR4 ENST00000375267 human ensembl 74_37 -1 known frame_shift_del c.2265_2264 p.S755fs 0.984:1.000 NULL superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 230 0 0 89 42 32.0611 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 200594042 200594042 T - DEL DDX59 ENST00000447706 human ensembl 74_37 -1 known frame_shift_del c.1730 p.N577fs 0.001 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Znf_HIT,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX59 HGNC ENSG00000118197 52 0 0 51 18 26.087 CAMSAP2 0 genome.wustl.edu 37 1 200827020 200827020 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 176 0 0 80 35 30.4348 ATP2B4 0 genome.wustl.edu 37 1 203667346 203667346 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 120 0 0 45 23 33.8235 KISS1 0 genome.wustl.edu 37 1 204159760 204159761 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 204159760 204159761 - G INS KISS1 ENST00000367194 human ensembl 74_37 -1 known frame_shift_ins c.269_268 p.H90fs 0.000:0.000 NULL NULL - no_errors KISS1 HGNC ENSG00000170498 13 0 0 4 2 33.3333 RASSF5 0 genome.wustl.edu 37 1 206757987 206757987 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 206757987 206757987 T - DEL RASSF5 ENST00000355294 human ensembl 74_37 +1 known frame_shift_del c.959 p.F321fs 0.994 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_Ras-assoc,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors RASSF5 HGNC ENSG00000136653 103 0 0 44 25 36.2319 EIF4G3 0 genome.wustl.edu 37 1 21306905 21306905 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 21306905 21306905 G - DEL EIF4G3 ENST00000374937 human ensembl 74_37 -1 known frame_shift_del c.268 p.Q90fs 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ENSG00000075151 74 0 0 34 9 20.9302 CENPF 0 genome.wustl.edu 37 1 214830653 214830653 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 214830653 214830653 A - DEL CENPF ENST00000366955 human ensembl 74_37 +1 known frame_shift_del c.8863 p.S2957fs 1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 74 0 0 43 21 32.8125 USP48 0 genome.wustl.edu 37 1 22084139 22084139 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 22084139 22084139 A - DEL USP48 ENST00000489108 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors USP48 HGNC ENSG00000090686 68 0 0 31 7 18.4211 ARV1 0 genome.wustl.edu 37 1 231131566 231131567 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 231131566 231131567 - A INS ARV1 ENST00000310256 human ensembl 74_37 +1 known frame_shift_ins c.509_510 p.K174fs 0.000:0.000 pfam_Arv1 pfam_Arv1 - no_errors ARV1 HGNC ENSG00000173409 96 0 0 48 14 22.5806 RYR2 0 genome.wustl.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 237969494 237969494 T - DEL RYR2 ENST00000360064 human ensembl 74_37 +1 known frame_shift_del c.14227 p.F4745fs 1.000 pfam_Ion_trans_dom 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 77 0 0 25 16 39.0244 FMN2 0 genome.wustl.edu 37 1 240370840 240370840 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 240370840 240370840 C - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.2728 p.P911fs 0.895 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 247 0 0 59 19 24.359 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 24078404 24078404 A - DEL TCEB3 ENST00000418390 human ensembl 74_37 +1 known frame_shift_del c.1387 p.N465fs 0.998 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom - no_errors TCEB3 HGNC ENSG00000011007 329 0 0 69 107 60.7955 COX20 0 genome.wustl.edu 37 1 245006587 245006587 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 245006587 245006587 T - DEL COX20 ENST00000391839 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COX20 HGNC ENSG00000203667 30 0 0 16 13 44.8276 ZNF496 0 genome.wustl.edu 37 1 247473522 247473522 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 247473522 247473522 C - DEL ZNF496 ENST00000462139 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZNF496 HGNC ENSG00000162714 12 0 0 10 9 47.3684 OR2T11 0 genome.wustl.edu 37 1 248789732 248789732 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 248789732 248789732 T - DEL OR2T11 ENST00000330803 human ensembl 74_37 -1 known frame_shift_del c.698 p.K233fs 1.000 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 OR2T11 HGNC ENSG00000183130 126 0 0 50 18 26.4706 HMGN2 0 genome.wustl.edu 37 1 26800609 26800609 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 26800609 26800609 A - DEL HMGN2 ENST00000361427 human ensembl 74_37 +1 known frame_shift_del c.124 p.K43fs 1.000 pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN2 HGNC ENSG00000198830 85 0 0 27 13 32.5 WDTC1 0 genome.wustl.edu 37 1 27621108 27621108 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 27621108 27621108 G - DEL WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_del c.861 p.E290fs 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 55 0 0 38 5 11.6279 PUM1 0 genome.wustl.edu 37 1 31439015 31439020 + In_Frame_Del DEL GCTGGG GCTGGG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GCTGGG GCTGGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 31439015 31439020 GCTGGG - DEL PUM1 ENST00000426105 human ensembl 74_37 -1 known in_frame_del c.1900_1895 p.PQ632in_frame_del 1.000:1.000:1.000:1.000:1.000:1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM1 HGNC ENSG00000134644 127 0 0 59 30 33.7079 CTPS1 0 genome.wustl.edu 37 1 41462979 41462979 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 41462979 41462979 T - DEL CTPS1 ENST00000486889 human ensembl 74_37 +1 known rna NULL NULL 0.012 - - - no_errors CTPS1 HGNC ENSG00000171793 45 0 0 24 18 42.8571 NASP 0 genome.wustl.edu 37 1 46073055 46073055 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 46073055 46073055 A - DEL NASP ENST00000402363 human ensembl 74_37 +1 known frame_shift_del c.478 p.T162fs 0.999 NULL pfam_Tetratricopeptide_SHNi-TPR_dom,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NASP HGNC ENSG00000132780 128 0 0 52 11 17.4603 TSPAN1 0 genome.wustl.edu 37 1 46650191 46650192 + RNA INS - - GG TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 46650191 46650192 - GG INS TSPAN1 ENST00000482143 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors TSPAN1 HGNC ENSG00000117472 136 1 0.729927 81 30 27.027 LRRC41 0 genome.wustl.edu 37 1 46752129 46752129 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 46752129 46752129 A - DEL LRRC41 ENST00000343304 human ensembl 74_37 -1 known frame_shift_del c.400 p.S134fs 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 183 1 0.543478 65 17 20.7317 ENSG00000266993 0 genome.wustl.edu 37 1 52264099 52264099 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 52264099 52264099 A - DEL ENSG00000266993 ENST00000586761 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-657D16.3 Clone_based_vega_gene ENSG00000266993 71 0 0 25 11 30.5556 ZCCHC11 0 genome.wustl.edu 37 1 52947290 52947291 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 52947290 52947291 - G INS ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_ins c.1653_1652 p.R553fs 0.989:0.997 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 122 0 0 80 29 26.6055 ZCCHC11 0 genome.wustl.edu 37 1 52991780 52991780 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 52991780 52991780 T - DEL ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known frame_shift_del c.173 p.N58fs 0.998 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 73 0 0 64 20 23.8095 C1orf141 0 genome.wustl.edu 37 1 67561988 67561988 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 67561988 67561988 T - DEL C1orf141 ENST00000371006 human ensembl 74_37 -1 known frame_shift_del c.363 p.K121fs 0.000 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 30 0 0 25 11 30.5556 SRSF11 0 genome.wustl.edu 37 1 70694389 70694389 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 70694389 70694389 T - DEL SRSF11 ENST00000463877 human ensembl 74_37 +1 known rna NULL NULL 0.029 - - - no_errors SRSF11 HGNC ENSG00000116754 20 0 0 15 11 42.3077 LPHN2 0 genome.wustl.edu 37 1 82421520 82421520 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 82421520 82421520 A - DEL LPHN2 ENST00000468283 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LPHN2 HGNC ENSG00000117114 80 0 0 47 18 27.6923 LRRC8C 0 genome.wustl.edu 37 1 90178382 90178382 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 90178382 90178382 A - DEL LRRC8C ENST00000370454 human ensembl 74_37 +1 known frame_shift_del c.253 p.K85fs 0.958 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 166 0 0 88 30 25.4237 ZNF644 0 genome.wustl.edu 37 1 91382293 91382293 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 91382293 91382293 A - DEL ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 38 0 0 20 10 33.3333 MTF2 0 genome.wustl.edu 37 1 93602676 93602677 + RNA DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 93602676 93602677 AA - DEL MTF2 ENST00000467953 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors MTF2 HGNC ENSG00000143033 20 0 0 23 5 17.8571 ABCD3 0 genome.wustl.edu 37 1 94982785 94982785 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 94982785 94982785 A - DEL ABCD3 ENST00000464165 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ABCD3 HGNC ENSG00000117528 24 0 0 23 16 41.0256 DPYD 0 genome.wustl.edu 37 1 97771791 97771791 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 1 97771791 97771791 A - DEL DPYD ENST00000370192 human ensembl 74_37 -1 known frame_shift_del c.2121 p.F707fs 1.000 pfam_Dihydroorotate_DH_1_2,pfam_tRNA_hU_synthase,tigrfam_Dihydroorotate_DH pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 341 0 0 129 61 32.1053 CWF19L1 0 genome.wustl.edu 37 10 101992924 101992926 + RNA DEL AAA AAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 101992924 101992926 AAA - DEL CWF19L1 ENST00000468709 human ensembl 74_37 -1 known rna NULL NULL 0.167:0.180:0.200 - - - no_errors CWF19L1 HGNC ENSG00000095485 113 1 0.877193 27 33 55 PAX2 0 genome.wustl.edu 37 10 102587324 102587324 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 102587324 102587324 C - DEL PAX2 ENST00000428433 human ensembl 74_37 +1 known frame_shift_del c.1202 p.R403fs 1.000 pfam_Pax2_C pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 169 0 0 91 28 23.5294 FAM178A 0 genome.wustl.edu 37 10 102684424 102684424 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 102684424 102684424 C - DEL FAM178A ENST00000370269 human ensembl 74_37 +1 known frame_shift_del c.1666 p.P557fs 1.000 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 193 0 0 127 7 5.22388 LBX1 0 genome.wustl.edu 37 10 102987157 102987157 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 102987157 102987157 G - DEL LBX1 ENST00000370193 human ensembl 74_37 -1 known frame_shift_del c.716 p.P239fs 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 45 0 0 19 7 26.9231 LBX1 0 genome.wustl.edu 37 10 102987448 102987448 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 102987448 102987448 T - DEL LBX1 ENST00000370193 human ensembl 74_37 -1 known frame_shift_del c.425 p.K142fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 226 0 0 101 6 5.60748 BTRC 0 genome.wustl.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 103310572 103310573 - C INS BTRC ENST00000370187 human ensembl 74_37 +1 known frame_shift_ins c.1773_1774 p.R593fs 0.998:1.000 NULL pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors BTRC HGNC ENSG00000166167 177 0 0 79 34 30.0885 XPNPEP1 0 genome.wustl.edu 37 10 111651337 111651337 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 111651337 111651337 T - DEL XPNPEP1 ENST00000475123 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors XPNPEP1 HGNC ENSG00000108039 17 0 0 9 10 52.6316 KIAA1598 0 genome.wustl.edu 37 10 118687324 118687324 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 118687324 118687324 G - DEL KIAA1598 ENST00000392903 human ensembl 74_37 -1 known frame_shift_del c.1091 p.P364fs 0.995 superfamily_Adenylate_cyclase-assoc_CAP_N superfamily_Adenylate_cyclase-assoc_CAP_N - no_errors KIAA1598 HGNC ENSG00000187164 208 0 0 77 30 28.0374 C10orf88 0 genome.wustl.edu 37 10 124711510 124711510 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 124711510 124711510 T - DEL C10orf88 ENST00000481909 human ensembl 74_37 -1 known frame_shift_del c.401 p.N134fs 0.704 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 39 0 0 20 12 37.5 OAT 0 genome.wustl.edu 37 10 126091634 126091634 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 126091634 126091634 A - DEL OAT ENST00000471127 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OAT HGNC ENSG00000065154 244 1 0.408163 103 43 29.4521 MKI67 0 genome.wustl.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 129913974 129913974 T - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.698 p.N233fs 0.003 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 66 0 0 57 19 25 DPYSL4 0 genome.wustl.edu 37 10 134017206 134017206 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 134017206 134017206 C - DEL DPYSL4 ENST00000471544 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors DPYSL4 HGNC ENSG00000151640 18 0 0 12 3 20 TTC40 0 genome.wustl.edu 37 10 134628238 134628238 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 134628238 134628238 G - DEL TTC40 ENST00000263170 human ensembl 74_37 -1 known frame_shift_del c.1684 p.R562fs 0.291 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 39 0 0 21 17 44.7368 ST8SIA6 0 genome.wustl.edu 37 10 17363320 17363321 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 17363320 17363321 - T INS ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known frame_shift_ins c.754_753 p.A251fs 0.017:0.024 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 84 0 0 50 27 35.0649 KIAA1217 0 genome.wustl.edu 37 10 24784015 24784018 + RNA DEL AAAA AAAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 24784015 24784018 AAAA - DEL KIAA1217 ENST00000460373 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.003:0.002:0.000 - - - no_errors KIAA1217 HGNC ENSG00000120549 47 0 0 19 7 26.9231 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 29760116 29760116 C - DEL SVIL ENST00000355867 human ensembl 74_37 -1 known frame_shift_del c.5586 p.M1863fs 0.474 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 69 0 0 13 8 38.0952 FBXO18 0 genome.wustl.edu 37 10 5966439 5966439 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 5966439 5966439 A - DEL FBXO18 ENST00000379999 human ensembl 74_37 +1 known frame_shift_del c.2717 p.K907fs 0.021 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 117 0 0 38 20 34.4828 RTKN2 0 genome.wustl.edu 37 10 63958149 63958149 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 63958149 63958149 T - DEL RTKN2 ENST00000373789 human ensembl 74_37 -1 known frame_shift_del c.1348 p.I450fs 1.000 NULL pfam_Pleckstrin_homology,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN2 HGNC ENSG00000182010 149 0 0 79 22 21.7822 JMJD1C 0 genome.wustl.edu 37 10 64966903 64966903 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 64966903 64966903 T - DEL JMJD1C ENST00000399262 human ensembl 74_37 -1 known frame_shift_del c.4526 p.N1509fs 0.985 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 189 0 0 120 53 30.6358 KAT6B 0 genome.wustl.edu 37 10 76736962 76736962 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 76736962 76736962 A - DEL KAT6B ENST00000490365 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KAT6B HGNC ENSG00000156650 8 0 0 4 7 63.6364 DLG5 0 genome.wustl.edu 37 10 79570872 79570873 + Frame_Shift_Ins INS - - GG TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 79570872 79570873 - GG INS DLG5 ENST00000372391 human ensembl 74_37 -1 known frame_shift_ins c.4443_4442 p.A1482fs 0.852:0.901 superfamily_PDZ pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 115 0 0 33 20 37.7358 MBL1P 0 genome.wustl.edu 37 10 81680655 81680656 + RNA INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 81680655 81680656 - A INS MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.001 - - - no_errors MBL1P HGNC ENSG00000242600 20 0 0 9 3 25 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 96 0 0 48 20 29.4118 IFIT1 0 genome.wustl.edu 37 10 91163033 91163033 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 10 91163033 91163033 A - DEL IFIT1 ENST00000371804 human ensembl 74_37 +1 known frame_shift_del c.1001 p.K336fs 0.004 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 128 1 0.775194 65 13 16.6667 AMPD3 0 genome.wustl.edu 37 11 10500145 10500145 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 10500145 10500145 C - DEL AMPD3 ENST00000396553 human ensembl 74_37 +1 known frame_shift_del c.294 p.P100fs 0.003 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 511 0 0 178 53 22.9437 C11orf63 0 genome.wustl.edu 37 11 122775058 122775058 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 122775058 122775058 A - DEL C11orf63 ENST00000227349 human ensembl 74_37 +1 known frame_shift_del c.770 p.N259fs 1.000 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 528 0 0 208 77 27.0175 OR10G8 0 genome.wustl.edu 37 11 123900397 123900397 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 123900397 123900397 C - DEL OR10G8 ENST00000431524 human ensembl 74_37 +1 known frame_shift_del c.68 p.L25fs 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G8 HGNC ENSG00000234560 328 0 0 134 54 28.7234 PKNOX2 0 genome.wustl.edu 37 11 125301354 125301354 + RNA DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 125301354 125301354 G - DEL PKNOX2 ENST00000530517 human ensembl 74_37 +1 known rna NULL NULL 0.181 - - - no_errors PKNOX2 HGNC ENSG00000165495 46 0 0 14 6 30 JAM3 0 genome.wustl.edu 37 11 134010644 134010644 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 134010644 134010644 T - DEL JAM3 ENST00000529443 human ensembl 74_37 +1 known frame_shift_del c.370 p.F125fs 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors JAM3 HGNC ENSG00000166086 87 0 0 35 9 20.4545 SPTY2D1 0 genome.wustl.edu 37 11 18638501 18638501 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 18638501 18638501 T - DEL SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_del c.96 p.D33fs 1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 155 0 0 97 31 24.2188 TRPM5 0 genome.wustl.edu 37 11 2434791 2434791 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 2434791 2434791 C - DEL TRPM5 ENST00000452833 human ensembl 74_37 -1 known frame_shift_del c.1924 p.D642fs 0.993 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 53 0 0 21 2 8.69565 KCNQ1 0 genome.wustl.edu 37 11 2609949 2609949 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 2609949 2609949 A - DEL KCNQ1 ENST00000155840 human ensembl 74_37 +1 known frame_shift_del c.1258 p.K422fs 0.975 prints_K_chnl_volt-dep_KCQN1 pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCQN1,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ1 HGNC ENSG00000053918 52 0 0 32 10 23.8095 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 32637520 32637520 T - DEL CCDC73 ENST00000335185 human ensembl 74_37 -1 known frame_shift_del c.1341 p.E448fs 0.000 NULL NULL - no_errors CCDC73 HGNC ENSG00000186714 58 0 0 28 13 31.7073 PAMR1 0 genome.wustl.edu 37 11 35513670 35513670 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 35513670 35513670 C - DEL PAMR1 ENST00000278360 human ensembl 74_37 -1 known frame_shift_del c.302 p.G101fs 0.999 smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_EG-like_dom,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors PAMR1 HGNC ENSG00000149090 509 0 0 175 57 24.569 ZNF408 0 genome.wustl.edu 37 11 46726476 46726477 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 46726476 46726477 - C INS ZNF408 ENST00000311764 human ensembl 74_37 +1 known frame_shift_ins c.1226_1227 p.C411fs 1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 171 0 0 85 35 29.1667 MADD 0 genome.wustl.edu 37 11 47312236 47312236 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 47312236 47312236 G - DEL MADD ENST00000311027 human ensembl 74_37 +1 known frame_shift_del c.3230 p.D1079fs 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC ENSG00000110514 134 0 0 48 27 36 PTPRJ 0 genome.wustl.edu 37 11 48161293 48161293 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 48161293 48161293 C - DEL PTPRJ ENST00000418331 human ensembl 74_37 +1 known frame_shift_del c.2408 p.T805fs 0.000 superfamily_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 83 0 0 29 7 19.4444 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL 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,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 98 0 0 40 10 20 TNKS1BP1 0 genome.wustl.edu 37 11 57070273 57070273 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 57070273 57070273 G - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.4343 p.P1448fs 0.014 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 16 0 0 5 4 44.4444 CTNND1 0 genome.wustl.edu 37 11 57569589 57569589 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 57569589 57569589 A - DEL CTNND1 ENST00000399050 human ensembl 74_37 +1 known frame_shift_del c.1341 p.N449fs 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 590 0 0 257 93 26.5714 DDB1 0 genome.wustl.edu 37 11 61070097 61070097 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 61070097 61070097 G - DEL DDB1 ENST00000301764 human ensembl 74_37 -1 known frame_shift_del c.3069 p.T1024fs 0.280 pfam_Cleavage/polyA-sp_fac_asu_C pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 331 0 0 123 47 27.6471 ROM1 0 genome.wustl.edu 37 11 62381084 62381084 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 62381084 62381084 G - DEL ROM1 ENST00000278833 human ensembl 74_37 +1 known frame_shift_del c.331 p.L114fs 0.023 pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1 - no_errors ROM1 HGNC ENSG00000149489 85 0 0 26 14 35 GANAB 0 genome.wustl.edu 37 11 62393815 62393815 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 62393815 62393815 A - DEL GANAB ENST00000346178 human ensembl 74_37 -1 known frame_shift_del c.2682 p.V895fs 0.854 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 153 0 0 52 23 30.6667 ATG2A 0 genome.wustl.edu 37 11 64662521 64662521 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 64662521 64662521 C - DEL ATG2A ENST00000421419 human ensembl 74_37 -1 known frame_shift_del c.5747 p.G1916fs 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 208 0 0 85 26 23.4234 PPP2R5B 0 genome.wustl.edu 37 11 64693222 64693222 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 64693222 64693222 C - DEL PPP2R5B ENST00000164133 human ensembl 74_37 +1 known frame_shift_del c.16 p.P7fs 1.000 pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 42 0 0 7 5 41.6667 SYVN1 0 genome.wustl.edu 37 11 64897506 64897508 + In_Frame_Del DEL GGA GGA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 64897506 64897508 GGA - DEL SYVN1 ENST00000377190 human ensembl 74_37 -1 known in_frame_del c.1376_1374 p.P459in_frame_del 1.000:1.000:0.978 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors SYVN1 HGNC ENSG00000162298 25 0 0 8 7 46.6667 MALAT1 0 genome.wustl.edu 37 11 65265584 65265584 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 65265584 65265584 A - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MALAT1 HGNC ENSG00000251562 120 0 0 56 12 17.6471 PCNXL3 0 genome.wustl.edu 37 11 65404014 65404014 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 65404014 65404014 C - DEL PCNXL3 ENST00000355703 human ensembl 74_37 +1 known frame_shift_del c.5746 p.R1917fs 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 43 0 0 12 5 29.4118 EFEMP2 0 genome.wustl.edu 37 11 65637334 65637336 + In_Frame_Del DEL AGG AGG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 65637334 65637336 AGG - DEL EFEMP2 ENST00000307998 human ensembl 74_37 -1 known in_frame_del c.721_719 p.S240in_frame_del 1.000:1.000:1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 208 0 0 56 37 39.7849 RPS6KB2 0 genome.wustl.edu 37 11 67196696 67196696 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 67196696 67196696 G - DEL RPS6KB2 ENST00000312629 human ensembl 74_37 +1 known frame_shift_del c.225 p.G77fs 0.994 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB2 HGNC ENSG00000175634 232 1 0.429185 88 28 24.1379 USP35 0 genome.wustl.edu 37 11 77920855 77920856 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 77920855 77920856 - C INS USP35 ENST00000529308 human ensembl 74_37 +1 known frame_shift_ins c.1954_1955 p.T655fs 0.000:0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 51 0 0 14 6 30 CTSC 0 genome.wustl.edu 37 11 88068108 88068108 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 88068108 88068108 A - DEL CTSC ENST00000227266 human ensembl 74_37 -1 known frame_shift_del c.315 p.F105fs 1.000 pfam_CathepsinC_exc pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 101 0 0 35 16 31.3725 SCARNA9 0 genome.wustl.edu 37 11 93454921 93454921 + RNA DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 11 93454921 93454921 G - DEL SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors SCARNA9 HGNC ENSG00000254911 46 0 0 41 13 24.0741 SLC41A2 0 genome.wustl.edu 37 12 105198777 105198777 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 105198777 105198777 A - DEL SLC41A2 ENST00000549713 human ensembl 74_37 -1 known rna NULL NULL 0.849 - - - no_errors SLC41A2 HGNC ENSG00000136052 48 0 0 35 20 36.3636 TCHP 0 genome.wustl.edu 37 12 110344435 110344435 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 110344435 110344435 A - DEL TCHP ENST00000312777 human ensembl 74_37 +1 known frame_shift_del c.515 p.K174fs 1.000 NULL NULL - no_errors TCHP HGNC ENSG00000139437 91 0 0 55 13 19.1176 TAS2R14 0 genome.wustl.edu 37 12 11090836 11090836 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 11090836 11090836 T - DEL TAS2R14 ENST00000381852 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R14 HGNC ENSG00000212127 68 0 0 27 11 28.9474 RASAL1 0 genome.wustl.edu 37 12 113565943 113565943 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 113565943 113565943 C - DEL RASAL1 ENST00000546530 human ensembl 74_37 -1 known frame_shift_del c.163 p.E55fs 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 625 1 0.159744 206 78 27.4648 MED13L 0 genome.wustl.edu 37 12 116429071 116429073 + In_Frame_Del DEL GGA GGA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 116429071 116429073 GGA - DEL MED13L ENST00000281928 human ensembl 74_37 -1 known in_frame_del c.3688_3686 p.L1229in_frame_del 1.000:0.927:1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 211 0 0 113 31 21.5278 VPS37B 0 genome.wustl.edu 37 12 123351892 123351893 + Frame_Shift_Del DEL GG GG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 123351892 123351893 GG - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629_628 p.P210fs 0.609:0.698 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 46 0 0 22 9 29.0323 ENSG00000256339 0 genome.wustl.edu 37 12 14994091 14994092 + RNA INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 14994091 14994092 - A INS ENSG00000256339 ENST00000444324 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.008 - - - no_errors RP11-233G1.4 Clone_based_vega_gene ENSG00000256339 125 0 0 72 28 28 MGST1 0 genome.wustl.edu 37 12 16516905 16516906 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 16516905 16516906 - T INS MGST1 ENST00000010404 human ensembl 74_37 +1 known frame_shift_ins c.398_399 p.V136fs 0.062:0.094 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST1 HGNC ENSG00000008394 224 0 0 122 45 26.9461 PLEKHA5 0 genome.wustl.edu 37 12 19514518 19514518 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 19514518 19514518 A - DEL PLEKHA5 ENST00000317589 human ensembl 74_37 +1 known frame_shift_del c.3177 p.T1062fs 0.273 NULL pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA5 HGNC ENSG00000052126 34 0 0 19 8 29.6296 SLCO1B1 0 genome.wustl.edu 37 12 21350012 21350012 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 21350012 21350012 A - DEL SLCO1B1 ENST00000256958 human ensembl 74_37 +1 known frame_shift_del c.860 p.E289fs 0.019 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 SLCO1B1 HGNC ENSG00000134538 161 0 0 101 35 25.7353 ABCC9 0 genome.wustl.edu 37 12 22068696 22068696 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 22068696 22068696 T - DEL ABCC9 ENST00000261200 human ensembl 74_37 -1 known frame_shift_del c.722 p.K241fs 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 149 0 0 81 39 32.5 ITPR2 0 genome.wustl.edu 37 12 26868529 26868529 + RNA DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 26868529 26868529 G - DEL ITPR2 ENST00000540791 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ITPR2 HGNC ENSG00000123104 10 0 0 8 5 38.4615 TM7SF3 0 genome.wustl.edu 37 12 27152717 27152717 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 27152717 27152717 A - DEL TM7SF3 ENST00000539399 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TM7SF3 HGNC ENSG00000064115 22 0 0 10 8 44.4444 PTHLH 0 genome.wustl.edu 37 12 28114898 28114898 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 28114898 28114898 T - DEL PTHLH ENST00000354417 human ensembl 74_37 -1 known frame_shift_del c.557 p.K186fs 0.135 NULL pfam_PTH/PTH-rel,smart_PTH/PTH-rel - no_errors PTHLH HGNC ENSG00000087494 15 0 0 9 6 40 GXYLT1 0 genome.wustl.edu 37 12 42491722 42491722 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 42491722 42491722 A - DEL GXYLT1 ENST00000398675 human ensembl 74_37 -1 known frame_shift_del c.978 p.H327fs 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT1 HGNC ENSG00000151233 77 0 0 52 14 21.2121 SENP1 0 genome.wustl.edu 37 12 48458896 48458896 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 48458896 48458896 T - DEL SENP1 ENST00000004980 human ensembl 74_37 -1 known frame_shift_del c.1227 p.G410fs 0.206 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 58 0 0 32 7 17.9487 KCNA6 0 genome.wustl.edu 37 12 4919441 4919441 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 4919441 4919441 C - DEL KCNA6 ENST00000280684 human ensembl 74_37 +1 known frame_shift_del c.234 p.L80fs 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 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 217 0 0 51 26 33.7662 KMT2D 0 genome.wustl.edu 37 12 49433773 49433773 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 49433773 49433773 G - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.7780 p.L2594fs 0.998 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 33 0 0 11 6 35.2941 GALNT6 0 genome.wustl.edu 37 12 51771119 51771119 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 51771119 51771119 G - DEL GALNT6 ENST00000356317 human ensembl 74_37 -1 known frame_shift_del c.524 p.P175fs 0.100 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT6 HGNC ENSG00000139629 69 0 0 27 8 22.8571 TENC1 0 genome.wustl.edu 37 12 53452903 53452903 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 53452903 53452903 C - DEL TENC1 ENST00000314276 human ensembl 74_37 +1 known frame_shift_del c.1508 p.P505fs 0.202 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TENC1 HGNC ENSG00000111077 125 1 0.793651 54 13 19.403 R3HDM2 0 genome.wustl.edu 37 12 57648750 57648750 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 57648750 57648750 C - DEL R3HDM2 ENST00000347140 human ensembl 74_37 -1 known frame_shift_del c.2737 p.D913fs 0.998 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM2 HGNC ENSG00000179912 120 1 0.826446 56 17 23.2877 B4GALNT1 0 genome.wustl.edu 37 12 58025103 58025103 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 58025103 58025103 C - DEL B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known frame_shift_del c.263 p.G88fs 0.099 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 259 0 0 109 36 24.8276 CD4 0 genome.wustl.edu 37 12 6924043 6924043 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 6924043 6924043 G - DEL CD4 ENST00000011653 human ensembl 74_37 +1 known frame_shift_del c.492 p.K167fs 0.000 pfam_Ig_C2-set,smart_Ig_sub,smart_Ig_sub2 pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 151 1 0.657895 59 17 22.3684 LRRIQ1 0 genome.wustl.edu 37 12 85450034 85450035 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 85450034 85450035 - A INS LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known frame_shift_ins c.1463_1464 p.R491fs 0.000:0.001 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 90 0 0 30 33 52.381 CEP290 0 genome.wustl.edu 37 12 88449444 88449444 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 12 88449444 88449444 T - DEL CEP290 ENST00000309041 human ensembl 74_37 -1 known frame_shift_del c.6875 p.N2292fs 0.987 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 15 0 0 7 6 46.1538 NALCN 0 genome.wustl.edu 37 13 101735497 101735497 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 101735497 101735497 A - DEL NALCN ENST00000251127 human ensembl 74_37 -1 known frame_shift_del c.3636 p.F1212fs 0.998 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 156 0 0 44 21 32.3077 NALCN 0 genome.wustl.edu 37 13 101997731 101997732 + Frame_Shift_Ins INS - - GT TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 101997731 101997732 - GT INS NALCN ENST00000251127 human ensembl 74_37 -1 known frame_shift_ins c.685_684 p.C228fs 1.000:0.991 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 170 0 0 70 24 25.5319 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 32 0 0 28 10 26.3158 LATS2 0 genome.wustl.edu 37 13 21563349 21563349 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 21563349 21563349 G - DEL LATS2 ENST00000382592 human ensembl 74_37 -1 known frame_shift_del c.570 p.Y191fs 0.661 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors LATS2 HGNC ENSG00000150457 206 0 0 55 17 23.6111 FGF9 0 genome.wustl.edu 37 13 22275330 22275330 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 22275330 22275330 A - DEL FGF9 ENST00000382353 human ensembl 74_37 +1 known frame_shift_del c.383 p.K129fs 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 34 0 0 21 13 38.2353 MEDAG 0 genome.wustl.edu 37 13 31480852 31480852 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 31480852 31480852 G - DEL MEDAG ENST00000380482 human ensembl 74_37 +1 known frame_shift_del c.200 p.G69fs 0.590 NULL NULL - no_errors MEDAG HGNC ENSG00000102802 14 0 0 2 3 60 SPG20 0 genome.wustl.edu 37 13 36886628 36886628 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 36886628 36886628 A - DEL SPG20 ENST00000491805 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SPG20 HGNC ENSG00000133104 111 0 0 75 22 22.6804 EXOSC8 0 genome.wustl.edu 37 13 37581201 37581201 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 37581201 37581201 A - DEL EXOSC8 ENST00000389704 human ensembl 74_37 +1 known frame_shift_del c.480 p.N162fs 1.000 pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC8 HGNC ENSG00000120699 73 0 0 26 19 42.2222 FREM2 0 genome.wustl.edu 37 13 39261568 39261570 + In_Frame_Del DEL GCT GCT - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 39261568 39261570 GCT - DEL FREM2 ENST00000280481 human ensembl 74_37 +1 known in_frame_del c.87_89 p.L33in_frame_del 0.000:0.011:0.013 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 16 0 0 10 3 23.0769 FREM2 0 genome.wustl.edu 37 13 39266588 39266589 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 39266588 39266589 - C INS FREM2 ENST00000280481 human ensembl 74_37 +1 known frame_shift_ins c.5107_5108 p.Q1705fs 0.011:0.058 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 201 0 0 87 49 36.0294 PCDH9 0 genome.wustl.edu 37 13 67801071 67801071 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 67801071 67801071 T - DEL PCDH9 ENST00000377865 human ensembl 74_37 -1 known frame_shift_del c.1502 p.N501fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 206 0 0 96 32 25 RBM26 0 genome.wustl.edu 37 13 79918807 79918807 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 79918807 79918807 T - DEL RBM26 ENST00000438724 human ensembl 74_37 -1 known frame_shift_del c.2109 p.K703fs 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 71 0 0 31 9 22.5 PTMAP5 0 genome.wustl.edu 37 13 82264963 82264963 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 13 82264963 82264963 A - DEL PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PTMAP5 HGNC ENSG00000214182 99 0 0 33 15 31.25 RTL1 0 genome.wustl.edu 37 14 101350949 101350949 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 101350949 101350949 G - DEL RTL1 ENST00000534062 human ensembl 74_37 -1 known frame_shift_del c.177 p.S60fs 0.549 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 77 0 0 43 5 10.4167 ENSG00000258851 0 genome.wustl.edu 37 14 104028197 104028197 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 104028197 104028197 A - DEL ENSG00000258851 ENST00000556332 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-894P9.2 Clone_based_vega_gene ENSG00000258851 38 0 0 26 8 23.5294 SALL2 0 genome.wustl.edu 37 14 21993380 21993380 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 21993380 21993380 G - DEL SALL2 ENST00000327430 human ensembl 74_37 -1 known frame_shift_del c.482 p.P161fs 0.472 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 133 0 0 34 12 26.087 C14orf93 0 genome.wustl.edu 37 14 23468135 23468135 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 23468135 23468135 G - DEL C14orf93 ENST00000299088 human ensembl 74_37 -1 known frame_shift_del c.98 p.T33fs 0.256 NULL NULL - no_errors C14orf93 HGNC ENSG00000100802 122 0 0 49 25 33.7838 STRN3 0 genome.wustl.edu 37 14 31398422 31398423 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 31398422 31398423 - C INS STRN3 ENST00000357479 human ensembl 74_37 -1 known frame_shift_ins c.1084_1083 p.K361fs 1.000:1.000 NULL pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN3 HGNC ENSG00000196792 166 0 0 94 45 32.3741 MIS18BP1 0 genome.wustl.edu 37 14 45700418 45700418 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 45700418 45700418 T - DEL MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_del c.1520 p.N507fs 0.464 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 94 0 0 52 35 40.2299 SOS2 0 genome.wustl.edu 37 14 50606709 50606709 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 50606709 50606709 T - DEL SOS2 ENST00000216373 human ensembl 74_37 -1 known frame_shift_del c.2736 p.K912fs 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS2 HGNC ENSG00000100485 76 0 0 48 25 34.2466 ENSG00000258745 0 genome.wustl.edu 37 14 51379087 51379087 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 51379087 51379087 T - DEL ENSG00000258745 ENST00000557343 human ensembl 74_37 +1 known rna NULL NULL 0.559 - - - no_errors RP11-218E20.5 Clone_based_vega_gene ENSG00000258745 90 0 0 55 26 32.0988 C14orf37 0 genome.wustl.edu 37 14 58598352 58598353 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 58598352 58598353 - C INS C14orf37 ENST00000267485 human ensembl 74_37 -1 known frame_shift_ins c.1709_1708 p.E570fs 0.000:0.000 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 130 0 0 61 17 21.7949 ARID4A 0 genome.wustl.edu 37 14 58814451 58814451 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 58814451 58814451 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1259 p.D423fs 0.935 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,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 92 0 0 61 18 22.7848 ENSG00000272909 0 genome.wustl.edu 37 14 64908058 64908058 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 64908058 64908058 T - DEL ENSG00000272909 ENST00000609125 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors CTD-2555O16.4 Clone_based_vega_gene ENSG00000272909 103 0 0 34 16 32 RAD51B 0 genome.wustl.edu 37 14 68353927 68353927 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 68353927 68353927 T - DEL RAD51B ENST00000555907 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors RAD51B HGNC ENSG00000182185 63 0 0 33 10 23.2558 ELMSAN1 0 genome.wustl.edu 37 14 74206606 74206606 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 74206606 74206606 G - DEL ELMSAN1 ENST00000286523 human ensembl 74_37 -1 known frame_shift_del c.106 p.Q36fs 0.686 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors ELMSAN1 HGNC ENSG00000156030 199 0 0 52 19 26.7606 ENSG00000258891 0 genome.wustl.edu 37 14 74363249 74363249 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 74363249 74363249 T - DEL ENSG00000258891 ENST00000554009 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP5-1021I20.5 Clone_based_vega_gene ENSG00000258891 119 0 0 62 22 26.1905 TTC8 0 genome.wustl.edu 37 14 89338723 89338724 + In_Frame_Ins INS - - CAA TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 89338723 89338724 - CAA INS TTC8 ENST00000338104 human ensembl 74_37 +1 known in_frame_ins c.1322_1323 p.445in_frame_insN 1.000:0.989 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC8 HGNC ENSG00000165533 155 0 0 66 16 19.5122 BTBD7 0 genome.wustl.edu 37 14 93709220 93709221 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 93709220 93709221 - T INS BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_ins c.2798_2797 p.T933fs 0.895:0.136 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 155 0 0 70 34 32.6923 BTBD7 0 genome.wustl.edu 37 14 93720047 93720048 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 93720047 93720048 - T INS BTBD7 ENST00000334746 human ensembl 74_37 -1 known frame_shift_ins c.1698_1697 p.N566fs 1.000:1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 198 0 0 91 27 22.8814 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 14 94088050 94088050 A - DEL UNC79 ENST00000553484 human ensembl 74_37 +1 known frame_shift_del c.4537 p.K1515fs 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 119 0 0 73 30 29.1262 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 27 0 0 16 3 15.7895 SNHG14 0 genome.wustl.edu 37 15 25490509 25490509 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 25490509 25490509 C - DEL SNHG14 ENST00000453082 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 90 0 0 83 24 22.4299 ANP32AP1 0 genome.wustl.edu 37 15 35530357 35530357 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 35530357 35530357 T - DEL ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors ANP32AP1 HGNC ENSG00000259516 13 0 0 6 5 45.4545 LCMT2 0 genome.wustl.edu 37 15 43621352 43621352 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 43621352 43621352 C - DEL LCMT2 ENST00000305641 human ensembl 74_37 -1 known frame_shift_del c.1336 p.V446fs 0.000 NULL pfam_LCM_MeTrfase - no_errors LCMT2 HGNC ENSG00000168806 158 0 0 74 28 27.451 TUBGCP4 0 genome.wustl.edu 37 15 43672327 43672327 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 43672327 43672327 G - DEL TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known frame_shift_del c.487 p.L165fs 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 115 0 0 32 18 36 ENSG00000259185 0 genome.wustl.edu 37 15 52201131 52201131 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 52201131 52201131 T - DEL ENSG00000259185 ENST00000559302 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-56B16.4 Clone_based_vega_gene ENSG00000259185 10 0 0 7 5 41.6667 HERC1 0 genome.wustl.edu 37 15 63970298 63970300 + In_Frame_Del DEL CTC CTC - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 63970298 63970300 CTC - DEL HERC1 ENST00000443617 human ensembl 74_37 -1 known in_frame_del c.6816_6814 p.E2272in_frame_del 1.000:1.000:1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 88 0 0 32 9 21.9512 MAN2C1 0 genome.wustl.edu 37 15 75651720 75651720 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 75651720 75651720 G - DEL MAN2C1 ENST00000267978 human ensembl 74_37 -1 known frame_shift_del c.1995 p.T666fs 0.000 pfam_Glyco_hydro_38_C,superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2C1 HGNC ENSG00000140400 77 0 0 33 7 17.5 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 254 1 0.392157 91 50 35.461 IQGAP1 0 genome.wustl.edu 37 15 91018049 91018050 + RNA DEL TT TT - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 TT TT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 91018049 91018050 TT - DEL IQGAP1 ENST00000560020 human ensembl 74_37 +1 known rna NULL NULL 0.121:0.145 - - - no_errors IQGAP1 HGNC ENSG00000140575 16 0 0 16 8 33.3333 SLCO3A1 0 genome.wustl.edu 37 15 92706441 92706441 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 15 92706441 92706441 A - DEL SLCO3A1 ENST00000555549 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors SLCO3A1 HGNC ENSG00000176463 71 0 0 23 9 28.125 CACNA1H 0 genome.wustl.edu 37 16 1254068 1254068 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 1254068 1254068 C - DEL CACNA1H ENST00000348261 human ensembl 74_37 +1 known frame_shift_del c.2061 p.P689fs 1.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 19 0 0 10 3 23.0769 PTX4 0 genome.wustl.edu 37 16 1536186 1536186 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 1536186 1536186 G - DEL PTX4 ENST00000447419 human ensembl 74_37 -1 known frame_shift_del c.1191 p.G398fs 0.011 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 74 0 0 36 5 12.1951 TMC5 0 genome.wustl.edu 37 16 19451796 19451797 + Frame_Shift_Del DEL TA TA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 19451796 19451797 TA - DEL TMC5 ENST00000396229 human ensembl 74_37 +1 known frame_shift_del c.436_437 p.Y146fs 0.408:0.261 NULL pfam_TMC - no_errors TMC5 HGNC ENSG00000103534 499 0 0 201 49 19.6 GPR139 0 genome.wustl.edu 37 16 20043389 20043389 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 20043389 20043389 G - DEL GPR139 ENST00000570682 human ensembl 74_37 -1 known frame_shift_del c.730 p.R244fs 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR139 HGNC ENSG00000180269 161 1 0.617284 65 18 21.6867 PKD1 0 genome.wustl.edu 37 16 2167506 2167506 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 2167506 2167506 C - DEL PKD1 ENST00000262304 human ensembl 74_37 -1 known frame_shift_del c.1369 p.V457fs 0.998 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 13 0 0 9 2 18.1818 ATXN2L 0 genome.wustl.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 28847350 28847350 G - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.2992 p.1002fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 217 0 0 92 30 24.5902 ATXN2L 0 genome.wustl.edu 37 16 28847356 28847356 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 28847356 28847356 C - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.2998 p.Q1002fs 0.998 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 217 0 0 117 13 10 SNX29P2 0 genome.wustl.edu 37 16 29367202 29367202 + RNA DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 29367202 29367202 G - DEL SNX29P2 ENST00000398878 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNX29P2 HGNC ENSG00000198106 63 0 0 19 12 38.7097 ZNF174 0 genome.wustl.edu 37 16 3454742 3454742 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 3454742 3454742 T - DEL ZNF174 ENST00000572544 human ensembl 74_37 +1 putative frame_shift_del c.719 p.L242fs 0.001 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN - no_errors ZNF174 HGNC ENSG00000103343 19 0 0 19 6 24 ENSG00000261270 0 genome.wustl.edu 37 16 56974235 56974236 + RNA INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 56974235 56974236 - T INS ENSG00000261270 ENST00000565861 human ensembl 74_37 +1 known rna NULL NULL 0.190:0.106 - - - no_errors RP11-325K4.3 Clone_based_vega_gene ENSG00000261270 40 0 0 30 8 21.0526 CNGB1 0 genome.wustl.edu 37 16 57938728 57938728 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 57938728 57938728 C - DEL CNGB1 ENST00000251102 human ensembl 74_37 -1 known frame_shift_del c.2544 p.L849fs 0.501 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 297 0 0 80 23 22.3301 CSNK2A2 0 genome.wustl.edu 37 16 58202515 58202515 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 58202515 58202515 T - DEL CSNK2A2 ENST00000262506 human ensembl 74_37 -1 known frame_shift_del c.512 p.K171fs 1.000 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 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 CSNK2A2 HGNC ENSG00000070770 64 0 0 36 21 36.8421 CDH8 0 genome.wustl.edu 37 16 61747819 61747819 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 61747819 61747819 T - DEL CDH8 ENST00000577390 human ensembl 74_37 -1 known frame_shift_del c.1580 p.N527fs 0.995 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 107 0 0 61 14 18.6667 CDH16 0 genome.wustl.edu 37 16 66945906 66945906 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 66945906 66945906 G - DEL CDH16 ENST00000299752 human ensembl 74_37 -1 known frame_shift_del c.1686 p.K563fs 0.250 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 184 0 0 58 7 10.7692 CDH16 0 genome.wustl.edu 37 16 66947518 66947519 + Splice_Site INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 66947518 66947519 - G INS CDH16 ENST00000299752 human ensembl 74_37 -1 known splice_site_ins c.781-3_781-2 e7-2 0.973:0.077 - - - no_errors CDH16 HGNC ENSG00000166589 95 0 0 61 30 32.967 HSF4 0 genome.wustl.edu 37 16 67201727 67201727 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 67201727 67201727 C - DEL HSF4 ENST00000264009 human ensembl 74_37 +1 known frame_shift_del c.959 p.P322fs 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC ENSG00000102878 21 0 0 10 3 23.0769 MIR328 0 genome.wustl.edu 37 16 67236292 67236293 + RNA INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 67236292 67236293 - T INS MIR328 ENST00000385213 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors MIR328 HGNC ENSG00000207948 204 0 0 103 31 23.1343 CTCF 0 genome.wustl.edu 37 16 67645338 67645339 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 67645338 67645339 - A INS CTCF ENST00000264010 human ensembl 74_37 +1 known frame_shift_ins c.603_604 p.T203fs 1.000:1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 142 0 0 56 15 21.1268 RLTPR 0 genome.wustl.edu 37 16 67682131 67682131 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 67682131 67682131 C - DEL RLTPR ENST00000334583 human ensembl 74_37 +1 known frame_shift_del c.1248 p.P418fs 0.002 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC ENSG00000159753 38 0 0 7 6 46.1538 PDPR 0 genome.wustl.edu 37 16 70163019 70163020 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 70163019 70163020 - A INS PDPR ENST00000288050 human ensembl 74_37 +1 known frame_shift_ins c.601_602 p.N202fs 1.000:1.000 pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom - no_errors PDPR HGNC ENSG00000090857 458 0 0 275 24 8.02676 HYDIN 0 genome.wustl.edu 37 16 71101153 71101154 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 71101153 71101154 - G INS HYDIN ENST00000288168 human ensembl 74_37 -1 known frame_shift_ins c.2166_2165 p.S723fs 0.000:0.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 25 0 0 12 8 40 ZNF23 0 genome.wustl.edu 37 16 71483562 71483562 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 71483562 71483562 A - DEL ZNF23 ENST00000357254 human ensembl 74_37 -1 known frame_shift_del c.366 p.F122fs 0.000 NULL pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF23 HGNC ENSG00000167377 277 1 0.359712 146 64 30.4762 ADAMTS18 0 genome.wustl.edu 37 16 77328873 77328874 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 77328873 77328874 - T INS ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known frame_shift_ins c.2953_2952 p.A984fs 0.993:0.999 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 84 0 0 27 19 41.3043 CDYL2 0 genome.wustl.edu 37 16 80718697 80718697 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 80718697 80718697 T - DEL CDYL2 ENST00000570137 human ensembl 74_37 -1 known frame_shift_del c.354 p.Y120fs 0.989 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL2 HGNC ENSG00000166446 92 0 0 58 28 32.5581 MSLNL 0 genome.wustl.edu 37 16 830291 830291 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 830291 830291 C - DEL MSLNL ENST00000293892 human ensembl 74_37 -1 known frame_shift_del c.710 p.G237fs 0.001 NULL pfam_Mesothelin - no_errors MSLNL HGNC ENSG00000162006 39 0 0 35 9 20.4545 TLDC1 0 genome.wustl.edu 37 16 84529358 84529360 + In_Frame_Del DEL CTC CTC - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 84529358 84529360 CTC - DEL TLDC1 ENST00000343629 human ensembl 74_37 -1 known in_frame_del c.315_313 p.E105in_frame_del 1.000:1.000:1.000 NULL pfam_TLDc,smart_TLDc - no_errors TLDC1 HGNC ENSG00000140950 161 0 0 67 26 27.957 COTL1 0 genome.wustl.edu 37 16 84600440 84600440 + RNA DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 16 84600440 84600440 G - DEL COTL1 ENST00000567278 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COTL1 HGNC ENSG00000103187 67 0 0 49 9 15.5172 CRK 0 genome.wustl.edu 37 17 1326755 1326757 + RNA DEL AAA AAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 1326755 1326757 AAA - DEL CRK ENST00000572145 human ensembl 74_37 -1 known rna NULL NULL 0.352:0.023:0.010 - - - no_errors CRK HGNC ENSG00000167193 65 0 0 34 13 27.6596 ALDH3A1 0 genome.wustl.edu 37 17 19641649 19641649 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 19641649 19641649 G - DEL ALDH3A1 ENST00000225740 human ensembl 74_37 -1 known frame_shift_del c.1334 p.P445fs 0.889 superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A1 HGNC ENSG00000108602 189 0 0 67 27 28.7234 SPECC1 0 genome.wustl.edu 37 17 20108263 20108263 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 20108263 20108263 A - DEL SPECC1 ENST00000261503 human ensembl 74_37 +1 known frame_shift_del c.901 p.N303fs 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1 HGNC ENSG00000128487 217 1 0.458716 123 20 13.986 NUFIP2 0 genome.wustl.edu 37 17 27614342 27614342 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 27614342 27614342 T - DEL NUFIP2 ENST00000225388 human ensembl 74_37 -1 known frame_shift_del c.670 p.R224fs 1.000 NULL NULL - no_errors NUFIP2 HGNC ENSG00000108256 288 1 0.346021 155 57 26.8868 NF1 0 genome.wustl.edu 37 17 29553477 29553478 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 29553477 29553478 - C INS NF1 ENST00000358273 human ensembl 74_37 +1 known frame_shift_ins c.2026_2027 p.I679fs 0.997:0.998 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 96 0 0 24 28 53.8462 ZZEF1 0 genome.wustl.edu 37 17 4009067 4009068 + Frame_Shift_Ins INS - - GA TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 4009067 4009068 - GA INS ZZEF1 ENST00000381638 human ensembl 74_37 -1 known frame_shift_ins c.1314_1313 p.P439fs 0.995:1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 112 0 0 56 16 22.2222 KANSL1 0 genome.wustl.edu 37 17 44109601 44109601 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 44109601 44109601 G - DEL KANSL1 ENST00000262419 human ensembl 74_37 -1 known frame_shift_del c.2902 p.Q968fs 0.999 NULL NULL - no_errors KANSL1 HGNC ENSG00000120071 197 0 0 47 17 26.5625 IGF2BP1 0 genome.wustl.edu 37 17 47126785 47126785 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 47126785 47126785 G - DEL IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known frame_shift_del c.1713 p.A572fs 1.000 NULL pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 79 0 0 16 8 33.3333 GP1BA 0 genome.wustl.edu 37 17 4837372 4837373 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 4837372 4837373 - A INS GP1BA ENST00000329125 human ensembl 74_37 +1 known frame_shift_ins c.1473_1474 p.T493fs 0.000:0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 151 0 0 61 32 34.4086 ACSF2 0 genome.wustl.edu 37 17 48551137 48551138 + Frame_Shift_Ins INS - - CA TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 48551137 48551138 - CA INS ACSF2 ENST00000300441 human ensembl 74_37 +1 known frame_shift_ins c.1587_1588 p.P532fs 1.000:1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 299 1 0.333333 94 38 28.7879 TOM1L1 0 genome.wustl.edu 37 17 52990096 52990097 + Frame_Shift_Del DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 52990096 52990097 AA - DEL TOM1L1 ENST00000575882 human ensembl 74_37 +1 known frame_shift_del c.292_293 p.K98fs 0.975:1.000 pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_VHS pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1L1 HGNC ENSG00000141198 67 0 0 39 14 26.4151 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 56435161 56435161 C - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.1976 p.G659fs 0.900 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 314 0 0 52 63 54.7826 CLTC 0 genome.wustl.edu 37 17 57763113 57763115 + In_Frame_Del DEL ATC ATC - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 57763113 57763115 ATC - DEL CLTC ENST00000269122 human ensembl 74_37 +1 known in_frame_del c.4771_4773 p.I1591in_frame_del 1.000:1.000:1.000 pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC ENSG00000141367 236 0 0 113 36 24.1611 VMP1 0 genome.wustl.edu 37 17 57915729 57915731 + In_Frame_Del DEL CAC CAC - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 57915729 57915731 CAC - DEL VMP1 ENST00000262291 human ensembl 74_37 +1 known in_frame_del c.1048_1050 p.H351in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors VMP1 HGNC ENSG00000062716 119 0 0 42 8 16 RPL12P38 0 genome.wustl.edu 37 17 58512419 58512419 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 58512419 58512419 A - DEL RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 16 0 0 10 9 47.3684 EFNB3 0 genome.wustl.edu 37 17 7612568 7612568 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 7612568 7612568 G - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.697 p.L235fs 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 81 0 0 29 13 30.9524 DNAH17 0 genome.wustl.edu 37 17 76471926 76471927 + RNA DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 76471926 76471927 AA - DEL DNAH17 ENST00000586052 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DNAH17 HGNC ENSG00000187775 62 0 0 26 3 10.3448 RNF213 0 genome.wustl.edu 37 17 78261867 78261868 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 78261867 78261868 - C INS RNF213 ENST00000582970 human ensembl 74_37 +1 known frame_shift_ins c.515_516 p.L174fs 0.002:0.001 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 40 0 0 19 6 24 HEXDC 0 genome.wustl.edu 37 17 80400208 80400208 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 80400208 80400208 C - DEL HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_del c.1498 p.R502fs 0.001 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 60 0 0 38 17 30.9091 HEXDC 0 genome.wustl.edu 37 17 80400297 80400298 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 80400297 80400298 - G INS HEXDC ENST00000337014 human ensembl 74_37 +1 known frame_shift_ins c.1587_1588 p.A531fs 0.001:0.000 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 103 0 0 39 31 44.2857 METRNL 0 genome.wustl.edu 37 17 81043007 81043008 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 17 81043007 81043008 - A INS METRNL ENST00000320095 human ensembl 74_37 +1 known frame_shift_ins c.364_365 p.T124fs 1.000:1.000 NULL NULL - no_errors METRNL HGNC ENSG00000176845 134 0 0 60 19 24.0506 EPG5 0 genome.wustl.edu 37 18 43534484 43534484 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 18 43534484 43534484 A - DEL EPG5 ENST00000282041 human ensembl 74_37 -1 known frame_shift_del c.884 p.L295fs 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 204 0 0 88 44 33.3333 KRI1 0 genome.wustl.edu 37 19 10675651 10675653 + In_Frame_Del DEL CTT CTT - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 10675651 10675653 CTT - DEL KRI1 ENST00000312962 human ensembl 74_37 -1 known in_frame_del c.246_244 p.K82in_frame_del 1.000:1.000:1.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 274 0 0 65 23 26.1364 CARM1 0 genome.wustl.edu 37 19 11015633 11015634 + Frame_Shift_Ins INS - - TG TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 11015633 11015634 - TG INS CARM1 ENST00000327064 human ensembl 74_37 +1 known frame_shift_ins c.227_228 p.V80fs 0.999:0.824 pfam_Histone-Arg_MeTrfase_N pfam_Histone-Arg_MeTrfase_N,pfam_Arg_MeTrfase,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Small_mtfrase_dom,pfam_mo5U34_MeTrfas-like,pfam_Methyltransf_11 - no_errors CARM1 HGNC ENSG00000142453 140 0 0 43 31 41.8919 ZNF878 0 genome.wustl.edu 37 19 12155893 12155894 + Frame_Shift_Ins INS - - CA TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 12155893 12155894 - CA INS ZNF878 ENST00000602107 human ensembl 74_37 -1 known frame_shift_ins c.464_463 p.G155fs 0.172:0.212 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 ZNF878 HGNC ENSG00000257446 47 0 0 40 16 28.5714 PKN1 0 genome.wustl.edu 37 19 14562741 14562741 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 14562741 14562741 C - DEL PKN1 ENST00000342216 human ensembl 74_37 +1 known frame_shift_del c.1089 p.F366fs 0.060 superfamily_C2_dom pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN1 HGNC ENSG00000123143 47 0 0 20 6 23.0769 SYDE1 0 genome.wustl.edu 37 19 15222547 15222547 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15222547 15222547 C - DEL SYDE1 ENST00000342784 human ensembl 74_37 +1 known frame_shift_del c.1522 p.T510fs 0.001 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE1 HGNC ENSG00000105137 74 0 0 31 17 35.4167 WIZ 0 genome.wustl.edu 37 19 15535043 15535043 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 15535043 15535043 G - DEL WIZ ENST00000389282 human ensembl 74_37 -1 known frame_shift_del c.4747 p.Q1583fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 31 0 0 20 10 33.3333 GTPBP3 0 genome.wustl.edu 37 19 17448849 17448849 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 17448849 17448849 C - DEL GTPBP3 ENST00000358792 human ensembl 74_37 +1 known frame_shift_del c.86 p.G31fs 0.000 NULL pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 87 0 0 30 13 30.2326 UBA52 0 genome.wustl.edu 37 19 18684544 18684546 + In_Frame_Del DEL ACA ACA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 18684544 18684546 ACA - DEL UBA52 ENST00000430157 human ensembl 74_37 +1 known in_frame_del c.176_178 p.N60in_frame_del 1.000:1.000:1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Ribosomal_L40e,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBA52 HGNC ENSG00000221983 79 0 0 38 6 13.6364 DMKN 0 genome.wustl.edu 37 19 35989794 35989795 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 35989794 35989795 - C INS DMKN ENST00000339686 human ensembl 74_37 -1 known frame_shift_ins c.1365_1364 p.V456fs 0.012:0.018 NULL NULL - no_errors DMKN HGNC ENSG00000161249 147 0 0 49 18 26.8657 KMT2B 0 genome.wustl.edu 37 19 36223175 36223175 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 36223175 36223175 C - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.5725 p.R1911fs 0.999 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,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_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 42 0 0 20 4 16.6667 PPP1R14A 0 genome.wustl.edu 37 19 38746893 38746893 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 38746893 38746893 C - DEL PPP1R14A ENST00000301242 human ensembl 74_37 -1 known frame_shift_del c.87 p.L30fs 0.987 pfam_PP1_inhibitor,superfamily_PP1_inhibitor pfam_PP1_inhibitor,superfamily_PP1_inhibitor - no_errors PPP1R14A HGNC ENSG00000167641 10 0 0 4 2 33.3333 HNRNPL 0 genome.wustl.edu 37 19 39330959 39330959 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 39330959 39330959 G - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1010 p.P337fs 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 50 0 0 13 4 23.5294 CIC 0 genome.wustl.edu 37 19 42796883 42796883 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 42796883 42796883 C - DEL CIC ENST00000575354 human ensembl 74_37 +1 known frame_shift_del c.3341 p.P1116fs 0.993 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 172 0 0 45 25 35.7143 PTOV1 0 genome.wustl.edu 37 19 50360301 50360303 + In_Frame_Del DEL AAG AAG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 50360301 50360303 AAG - DEL PTOV1 ENST00000391842 human ensembl 74_37 +1 known in_frame_del c.628_630 p.K212in_frame_del 1.000:1.000:1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 560 0 0 180 75 29.4118 PTOV1 0 genome.wustl.edu 37 19 50363527 50363527 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 50363527 50363527 G - DEL PTOV1 ENST00000391842 human ensembl 74_37 +1 known frame_shift_del c.1242 p.*417fs 1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 46 0 0 23 6 20.6897 ENSG00000267865 0 genome.wustl.edu 37 19 56220431 56220431 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 56220431 56220431 T - DEL ENSG00000267865 ENST00000596293 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267865 48 0 0 29 7 19.4444 FBN3 0 genome.wustl.edu 37 19 8196625 8196625 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 8196625 8196625 C - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.1803 p.L602fs 0.999 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 56 0 0 21 7 25 ZNF846 0 genome.wustl.edu 37 19 9875702 9875702 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 19 9875702 9875702 A - DEL ZNF846 ENST00000587650 human ensembl 74_37 -1 known rna NULL NULL 0.157 - - - no_errors ZNF846 HGNC ENSG00000196605 117 0 0 78 10 11.3636 EIF5B 0 genome.wustl.edu 37 2 100011328 100011329 + Frame_Shift_Del DEL AG AG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 100011328 100011329 AG - DEL EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_del c.3236_3237 p.K1080fs 1.000:1.000 superfamily_TIF_IF2_dom3 pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 64 0 0 32 11 25.5814 TMEM87B 0 genome.wustl.edu 37 2 112839024 112839024 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 112839024 112839024 T - DEL TMEM87B ENST00000283206 human ensembl 74_37 +1 known frame_shift_del c.767 p.L258fs 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 232 1 0.429185 120 34 22.0779 ENSG00000231731 0 genome.wustl.edu 37 2 128263364 128263366 + RNA DEL AAA AAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 128263364 128263366 AAA - DEL ENSG00000231731 ENST00000599001 human ensembl 74_37 +1 known rna NULL NULL 0.233:0.319:0.309 - - - no_errors AC010976.2 Clone_based_vega_gene ENSG00000231731 55 0 0 49 13 20.9677 ZRANB3 0 genome.wustl.edu 37 2 135988440 135988440 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 135988440 135988440 T - DEL ZRANB3 ENST00000264159 human ensembl 74_37 -1 known frame_shift_del c.1597 p.R533fs 0.015 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 94 0 0 63 17 21.25 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 211 0 0 49 63 56.25 MBD5 0 genome.wustl.edu 37 2 149226442 149226443 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 149226442 149226443 - A INS MBD5 ENST00000407073 human ensembl 74_37 +1 known frame_shift_ins c.930_931 p.P312fs 1.000:1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 116 0 0 75 27 26.4706 SCN9A 0 genome.wustl.edu 37 2 167144965 167144965 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 167144965 167144965 T - DEL SCN9A ENST00000303354 human ensembl 74_37 -1 known frame_shift_del c.1299 p.E434fs 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 179 0 0 50 39 43.8202 CCDC173 0 genome.wustl.edu 37 2 170506881 170506882 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 170506881 170506882 - T INS CCDC173 ENST00000447353 human ensembl 74_37 -1 known frame_shift_ins c.1110_1109 p.N370fs 0.005:0.010 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 40 0 0 15 5 25 UBR3 0 genome.wustl.edu 37 2 170806529 170806529 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 170806529 170806529 A - DEL UBR3 ENST00000272793 human ensembl 74_37 +1 known frame_shift_del c.3499 p.V1169fs 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 184 0 0 106 8 7.01754 MYO3B 0 genome.wustl.edu 37 2 171073882 171073883 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 171073882 171073883 - C INS MYO3B ENST00000334231 human ensembl 74_37 +1 known frame_shift_ins c.607_608 p.F205fs 0.995:0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 389 0 0 181 14 7.17949 CIR1 0 genome.wustl.edu 37 2 175213713 175213713 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 175213713 175213713 T - DEL CIR1 ENST00000342016 human ensembl 74_37 -1 known frame_shift_del c.865 p.I289fs 0.130 NULL pfam_CIR_N_dom,superfamily_Znf_CCHC - no_errors CIR1 HGNC ENSG00000138433 80 0 0 34 16 32 CHRNA1 0 genome.wustl.edu 37 2 175622346 175622346 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 175622346 175622346 T - DEL CHRNA1 ENST00000261007 human ensembl 74_37 -1 known frame_shift_del c.367 p.I123fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt 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 - no_errors CHRNA1 HGNC ENSG00000138435 103 0 0 39 17 30.3571 HOXD10 0 genome.wustl.edu 37 2 176981596 176981597 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 176981596 176981597 - T INS HOXD10 ENST00000249501 human ensembl 74_37 +1 known frame_shift_ins c.35_36 p.L14fs 1.000:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD10 HGNC ENSG00000128710 247 0 0 90 37 29.1339 TTN-AS1 0 genome.wustl.edu 37 2 179392944 179392944 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 179392944 179392944 A - DEL TTN-AS1 ENST00000592182 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 69 0 0 32 10 23.8095 ENSG00000271141 0 genome.wustl.edu 37 2 179481361 179481361 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 179481361 179481361 A - DEL ENSG00000271141 ENST00000605334 human ensembl 74_37 +1 known rna NULL NULL 0.925 - - - no_errors RP11-171I2.4 Clone_based_vega_gene ENSG00000271141 100 1 0.990099 69 24 25.8065 SSFA2 0 genome.wustl.edu 37 2 182786778 182786778 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 182786778 182786778 T - DEL SSFA2 ENST00000431877 human ensembl 74_37 +1 known frame_shift_del c.3314 p.S1107fs 1.000 NULL NULL - no_errors SSFA2 HGNC ENSG00000138434 202 0 0 73 42 36.5217 ZC3H15 0 genome.wustl.edu 37 2 187370510 187370512 + In_Frame_Del DEL ATG ATG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 ATG ATG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 187370510 187370512 ATG - DEL ZC3H15 ENST00000337859 human ensembl 74_37 +1 known in_frame_del c.908_910 p.D306in_frame_del 1.000:1.000:1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 72 0 0 43 10 18.8679 TMEFF2 0 genome.wustl.edu 37 2 192818525 192818525 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 192818525 192818525 T - DEL TMEFF2 ENST00000272771 human ensembl 74_37 -1 known frame_shift_del c.908 p.K303fs 1.000 NULL pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 81 0 0 60 26 30.2326 SUMO1 0 genome.wustl.edu 37 2 203096349 203096349 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 203096349 203096349 A - DEL SUMO1 ENST00000409627 human ensembl 74_37 -1 known frame_shift_del c.119 p.L40fs 0.011 NULL NULL - no_errors SUMO1 HGNC ENSG00000116030 25 0 0 22 5 18.5185 APOB 0 genome.wustl.edu 37 2 21233671 21233672 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 21233671 21233672 - G INS APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_ins c.6069_6068 p.I2024fs 0.000:0.022 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 191 0 0 97 43 30.7143 APOB 0 genome.wustl.edu 37 2 21238076 21238076 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 21238076 21238076 T - DEL APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_del c.3565 p.M1189fs 0.001 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 170 0 0 109 8 6.83761 ABCA12 0 genome.wustl.edu 37 2 215843156 215843156 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 215843156 215843156 T - DEL ABCA12 ENST00000272895 human ensembl 74_37 -1 known frame_shift_del c.5012 p.N1671fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 47 0 0 22 12 35.2941 DNAJB2 0 genome.wustl.edu 37 2 220146725 220146725 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 220146725 220146725 C - DEL DNAJB2 ENST00000336576 human ensembl 74_37 +1 known frame_shift_del c.294 p.E100fs 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB2 HGNC ENSG00000135924 131 0 0 39 10 20.4082 UGT1A3 0 genome.wustl.edu 37 2 234638283 234638283 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 234638283 234638283 T - DEL UGT1A3 ENST00000482026 human ensembl 74_37 +1 known frame_shift_del c.511 p.L173fs 0.996 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A3 HGNC ENSG00000243135 328 1 0.303951 185 102 35.5401 LOC101927958 0 genome.wustl.edu 37 2 239164120 239164120 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 239164120 239164120 C - DEL LOC101927958 ENST00000456601 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AC096574.4 Clone_based_vega_gene ENSG00000225057 18 0 0 22 7 24.1379 ANKMY1 0 genome.wustl.edu 37 2 241468685 241468685 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 241468685 241468685 A - DEL ANKMY1 ENST00000272972 human ensembl 74_37 -1 known frame_shift_del c.455 p.F152fs 0.879 NULL pfam_Ankyrin_rpt,pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 79 0 0 49 6 10.9091 MYADML 0 genome.wustl.edu 37 2 33952811 33952811 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 33952811 33952811 C - DEL MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.822 - - - no_errors MYADML HGNC ENSG00000239649 62 0 0 22 7 24.1379 PREPL 0 genome.wustl.edu 37 2 44566504 44566505 + Splice_Site INS - - AG TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 44566504 44566505 - AG INS PREPL ENST00000260648 human ensembl 74_37 -1 known splice_site_ins c.753-3_753-2 e6-2 0.982:0.088 - - - no_errors PREPL HGNC ENSG00000138078 49 0 0 34 7 17.0732 MSH6 0 genome.wustl.edu 37 2 48030639 48030640 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 48030639 48030640 - C INS MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_ins c.3253_3254 p.F1088fs 0.001:0.003 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 128 1 0.775194 67 21 23.8636 TIA1 0 genome.wustl.edu 37 2 70475534 70475535 + Splice_Site DEL CA CA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 70475534 70475535 CA - DEL TIA1 ENST00000433529 human ensembl 74_37 -1 known splice_site_del c.26+2_26+1 e1+2 1.000:1.000 - - - no_errors TIA1 HGNC ENSG00000116001 109 0 0 24 16 40 IMMT 0 genome.wustl.edu 37 2 86385684 86385684 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 86385684 86385684 A - DEL IMMT ENST00000490238 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IMMT HGNC ENSG00000132305 19 0 0 7 8 53.3333 ASAP2 0 genome.wustl.edu 37 2 9528643 9528643 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 9528643 9528643 C - DEL ASAP2 ENST00000281419 human ensembl 74_37 +1 known frame_shift_del c.2351 p.P786fs 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 77 0 0 32 10 23.8095 MAL 0 genome.wustl.edu 37 2 95691557 95691558 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 95691557 95691558 - G INS MAL ENST00000309988 human ensembl 74_37 +1 known frame_shift_ins c.20_21 p.S10fs 1.000:0.998 NULL pfam_Marvel,prints_MAL - no_errors MAL HGNC ENSG00000172005 19 0 0 10 5 33.3333 ZAP70 0 genome.wustl.edu 37 2 98340769 98340769 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 98340769 98340769 C - DEL ZAP70 ENST00000264972 human ensembl 74_37 +1 known frame_shift_del c.270 p.D92fs 0.165 smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 32 0 0 14 6 30 TMEM131 0 genome.wustl.edu 37 2 98429194 98429195 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 98429194 98429195 - G INS TMEM131 ENST00000186436 human ensembl 74_37 -1 known frame_shift_ins c.1636_1635 p.K545fs 0.999:0.997 pfam_DUF3651_TMEM131 pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 63 0 0 24 14 36.8421 INPP4A 0 genome.wustl.edu 37 2 99163123 99163123 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 99163123 99163123 A - DEL INPP4A ENST00000074304 human ensembl 74_37 +1 known frame_shift_del c.1129 p.K378fs 1.000 NULL superfamily_C2_dom - no_errors INPP4A HGNC ENSG00000040933 91 0 0 51 5 8.92857 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 99778781 99778781 A - DEL LIPT1 ENST00000340066 human ensembl 74_37 +1 known frame_shift_del c.361 p.K123fs 0.994 pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase - no_errors LIPT1 HGNC ENSG00000144182 105 1 0.943396 83 30 26.5487 EIF5B 0 genome.wustl.edu 37 2 99977649 99977650 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 2 99977649 99977650 - A INS EIF5B ENST00000289371 human ensembl 74_37 +1 known frame_shift_ins c.285_286 p.K98fs 0.928:0.998 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_TIF_IF2_dom3,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EIF5B HGNC ENSG00000158417 110 1 0.900901 49 24 32.8767 DEFB128 0 genome.wustl.edu 37 20 168739 168740 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 168739 168740 - T INS DEFB128 ENST00000334391 human ensembl 74_37 -1 known frame_shift_ins c.70_69 p.C23fs 0.765:0.445 NULL NULL - no_errors DEFB128 HGNC ENSG00000185982 282 0 0 163 69 29.7414 GINS1 0 genome.wustl.edu 37 20 25422397 25422397 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 25422397 25422397 A - DEL GINS1 ENST00000262460 human ensembl 74_37 +1 known frame_shift_del c.507 p.N172fs 0.232 NULL NULL - no_errors GINS1 HGNC ENSG00000101003 128 0 0 81 19 19 HM13 0 genome.wustl.edu 37 20 30142485 30142487 + RNA DEL AAA AAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 30142485 30142487 AAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155 - - - no_errors HM13 HGNC ENSG00000101294 37 0 0 7 6 46.1538 ACSS2 0 genome.wustl.edu 37 20 33501910 33501911 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 33501910 33501911 - G INS ACSS2 ENST00000253382 human ensembl 74_37 +1 known frame_shift_ins c.655_656 p.E221fs 1.000:1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 87 0 0 20 18 47.3684 DDX27 0 genome.wustl.edu 37 20 47858504 47858504 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 47858504 47858504 A - DEL DDX27 ENST00000371764 human ensembl 74_37 +1 known frame_shift_del c.2065 p.K691fs 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 DDX27 HGNC ENSG00000124228 168 1 0.591716 83 30 26.5487 SYCP2 0 genome.wustl.edu 37 20 58452519 58452519 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 58452519 58452519 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.3071 p.N1024fs 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 75 0 0 45 13 22.4138 CDH26 0 genome.wustl.edu 37 20 58587784 58587785 + Frame_Shift_Del DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 58587784 58587785 AA - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498_2499 p.*833fs 0.000:0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 79 0 0 35 12 25.5319 SS18L1 0 genome.wustl.edu 37 20 60740566 60740566 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 20 60740566 60740566 G - DEL SS18L1 ENST00000370848 human ensembl 74_37 +1 known frame_shift_del c.921 p.G309fs 0.999 NULL pfam_SS18_fam - no_errors SS18L1 HGNC ENSG00000184402 47 0 0 14 3 17.6471 SCAF4 0 genome.wustl.edu 37 21 33074655 33074655 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 33074655 33074655 T - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.359 p.N120fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC ENSG00000156304 86 0 0 62 30 32.6087 C21orf59 0 genome.wustl.edu 37 21 33982209 33982209 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 33982209 33982209 T - DEL C21orf59 ENST00000290155 human ensembl 74_37 -1 known frame_shift_del c.246 p.K82fs 0.940 NULL pfam_DUF2870 - no_errors C21orf59 HGNC ENSG00000159079 69 0 0 40 17 29.8246 TTC3 0 genome.wustl.edu 37 21 38460480 38460480 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 38460480 38460480 T - DEL TTC3 ENST00000484047 human ensembl 74_37 +1 known rna NULL NULL 0.813 - - - no_errors TTC3 HGNC ENSG00000182670 21 0 0 16 4 20 PKNOX1 0 genome.wustl.edu 37 21 44448885 44448885 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 44448885 44448885 A - DEL PKNOX1 ENST00000291547 human ensembl 74_37 +1 known frame_shift_del c.1000 p.T336fs 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX1 HGNC ENSG00000160199 328 1 0.303951 142 54 27.551 AIRE 0 genome.wustl.edu 37 21 45710773 45710773 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 45710773 45710773 G - DEL AIRE ENST00000355347 human ensembl 74_37 +1 known frame_shift_del c.84 p.G30fs 0.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors AIRE HGNC ENSG00000160224 223 1 0.446429 79 33 29.4643 UBE2G2 0 genome.wustl.edu 37 21 46191156 46191157 + RNA DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 12 0 0 18 3 14.2857 ADARB1 0 genome.wustl.edu 37 21 46642058 46642058 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 21 46642058 46642058 G - DEL ADARB1 ENST00000360697 human ensembl 74_37 +1 known frame_shift_del c.2172 p.A726fs 0.998 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,superfamily_Cytokine_IL1-like,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB1 HGNC ENSG00000197381 69 0 0 35 8 18.6047 HIC2 0 genome.wustl.edu 37 22 21800189 21800191 + In_Frame_Del DEL GAA GAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 21800189 21800191 GAA - DEL HIC2 ENST00000407464 human ensembl 74_37 +1 known in_frame_del c.1005_1007 p.K337in_frame_del 0.449:0.904:0.995 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 51 0 0 24 11 31.4286 TPST2 0 genome.wustl.edu 37 22 26932299 26932299 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 26932299 26932299 G - DEL TPST2 ENST00000338754 human ensembl 74_37 -1 known frame_shift_del c.996 p.N333fs 0.999 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors TPST2 HGNC ENSG00000128294 118 0 0 33 11 25 ZNRF3 0 genome.wustl.edu 37 22 29446611 29446611 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 29446611 29446611 A - DEL ZNRF3 ENST00000544604 human ensembl 74_37 +1 known frame_shift_del c.2442 p.P815fs 0.916 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 31 0 0 17 5 22.7273 RASL10A 0 genome.wustl.edu 37 22 29709664 29709664 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 29709664 29709664 C - DEL RASL10A ENST00000474590 human ensembl 74_37 -1 known rna NULL NULL 0.008 - - - no_errors RASL10A HGNC ENSG00000100276 9 0 0 11 4 26.6667 DDX17 0 genome.wustl.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 38897211 38897211 T - DEL DDX17 ENST00000396821 human ensembl 74_37 -1 known frame_shift_del c.362 p.K121fs 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 80 0 0 36 23 38.9831 TOB2 0 genome.wustl.edu 37 22 41832766 41832766 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 22 41832766 41832766 C - DEL TOB2 ENST00000327492 human ensembl 74_37 -1 known frame_shift_del c.584 p.G195fs 0.969 NULL pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors TOB2 HGNC ENSG00000183864 73 0 0 19 6 24 SENP7 0 genome.wustl.edu 37 3 101085608 101085608 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 101085608 101085608 T - DEL SENP7 ENST00000394095 human ensembl 74_37 -1 known frame_shift_del c.984 p.K328fs 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 56 0 0 58 15 20.5479 C3orf17 0 genome.wustl.edu 37 3 112730081 112730081 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 112730081 112730081 T - DEL C3orf17 ENST00000314400 human ensembl 74_37 -1 known frame_shift_del c.724 p.M242fs 0.005 NULL NULL - no_errors C3orf17 HGNC ENSG00000163608 150 0 0 82 29 26.1261 ADCY5 0 genome.wustl.edu 37 3 123167214 123167215 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 123167214 123167215 - C INS ADCY5 ENST00000462833 human ensembl 74_37 -1 known frame_shift_ins c.179_178 p.A60fs 1.000:0.997 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY5 HGNC ENSG00000173175 16 0 0 2 4 66.6667 EEFSEC 0 genome.wustl.edu 37 3 128060202 128060203 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 128060202 128060203 - C INS EEFSEC ENST00000254730 human ensembl 74_37 +1 known frame_shift_ins c.913_914 p.E307fs 1.000:1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EEFSEC HGNC ENSG00000132394 145 0 0 48 20 29.4118 SRPRB 0 genome.wustl.edu 37 3 133524737 133524738 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 133524737 133524738 - G INS SRPRB ENST00000466490 human ensembl 74_37 +1 known frame_shift_ins c.45_46 p.T17fs 0.001:0.541 NULL pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,superfamily_P-loop_NTPase - no_errors SRPRB HGNC ENSG00000144867 140 0 0 45 18 28.5714 DZIP1L 0 genome.wustl.edu 37 3 137787004 137787004 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 137787004 137787004 C - DEL DZIP1L ENST00000327532 human ensembl 74_37 -1 known frame_shift_del c.1821 p.M610fs 0.803 NULL pfscan_Znf_C2H2 - no_errors DZIP1L HGNC ENSG00000158163 75 0 0 17 15 46.875 PLSCR1 0 genome.wustl.edu 37 3 146234963 146234964 + RNA DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 146234963 146234964 AA - DEL PLSCR1 ENST00000484560 human ensembl 74_37 -1 putative rna NULL NULL 0.163:0.236 - - - no_errors PLSCR1 HGNC ENSG00000188313 60 0 0 30 10 25 IGSF10 0 genome.wustl.edu 37 3 151166172 151166172 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 151166172 151166172 T - DEL IGSF10 ENST00000282466 human ensembl 74_37 -1 known frame_shift_del c.1597 p.S533fs 0.228 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 270 0 0 139 68 32.8502 CAPN7 0 genome.wustl.edu 37 3 15283047 15283047 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 15283047 15283047 G - DEL CAPN7 ENST00000253693 human ensembl 74_37 +1 known frame_shift_del c.1740 p.G582fs 1.000 superfamily_Calpain_domain_III pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN7 HGNC ENSG00000131375 100 0 0 56 21 27.2727 ARL14 0 genome.wustl.edu 37 3 160395474 160395474 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 160395474 160395474 A - DEL ARL14 ENST00000320767 human ensembl 74_37 +1 known frame_shift_del c.340 p.N115fs 0.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL14 HGNC ENSG00000179674 105 0 0 71 18 20.2247 SERPINI1 0 genome.wustl.edu 37 3 167507159 167507159 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 167507159 167507159 A - DEL SERPINI1 ENST00000295777 human ensembl 74_37 +1 known frame_shift_del c.243 p.N83fs 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINI1 HGNC ENSG00000163536 131 0 0 75 18 19.3548 PRKCI 0 genome.wustl.edu 37 3 169998164 169998165 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 169998164 169998165 - A INS PRKCI ENST00000295797 human ensembl 74_37 +1 known frame_shift_ins c.855_856 p.E287fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_PKC_zeta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCI HGNC ENSG00000163558 79 0 0 52 17 24.6377 EIF4G1 0 genome.wustl.edu 37 3 184045412 184045412 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 184045412 184045412 A - DEL EIF4G1 ENST00000352767 human ensembl 74_37 +1 known frame_shift_del c.3721 p.K1241fs 0.974 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 299 0 0 159 10 5.91716 OPA1-AS1 0 genome.wustl.edu 37 3 193336469 193336469 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 193336469 193336469 T - DEL OPA1-AS1 ENST00000433105 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OPA1-AS1 HGNC ENSG00000224855 12 0 0 6 4 40 LRRC15 0 genome.wustl.edu 37 3 194080916 194080917 + Frame_Shift_Del DEL GG GG - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 194080916 194080917 GG - DEL LRRC15 ENST00000439944 human ensembl 74_37 -1 known frame_shift_del c.875_874 p.P292fs 0.992:0.992 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRRC15 HGNC ENSG00000172061 162 0 0 69 21 23.3333 TRNT1 0 genome.wustl.edu 37 3 3188232 3188232 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 3188232 3188232 A - DEL TRNT1 ENST00000251607 human ensembl 74_37 +1 known frame_shift_del c.727 p.I245fs 1.000 NULL pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 121 0 0 50 28 35.8974 CLASP2 0 genome.wustl.edu 37 3 33602361 33602361 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 33602361 33602361 T - DEL CLASP2 ENST00000399362 human ensembl 74_37 -1 known frame_shift_del c.2890 p.M964fs 1.000 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 248 2 0.8 122 42 25.6098 ANO10 0 genome.wustl.edu 37 3 43647212 43647213 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 43647212 43647213 - T INS ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_ins c.133_132 p.D44fs 1.000:1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 98 0 0 41 10 19.6078 PTPN23 0 genome.wustl.edu 37 3 47454481 47454482 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 47454481 47454482 - T INS PTPN23 ENST00000265562 human ensembl 74_37 +1 known frame_shift_ins c.4717_4718 p.P1573fs 0.985:0.996 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 44 0 0 16 8 33.3333 ATRIP 0 genome.wustl.edu 37 3 48501288 48501288 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 48501288 48501288 C - DEL ATRIP ENST00000320211 human ensembl 74_37 +1 known frame_shift_del c.1028 p.L345fs 0.820 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 397 0 0 133 41 23.5632 FAM212A 0 genome.wustl.edu 37 3 49842023 49842023 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 49842023 49842023 C - DEL FAM212A ENST00000333323 human ensembl 74_37 +1 known frame_shift_del c.467 p.P157fs 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 115 0 0 50 20 28.5714 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 51417604 51417604 C - DEL DOCK3 ENST00000266037 human ensembl 74_37 +1 known frame_shift_del c.5549 p.P1852fs 0.115 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 85 0 0 27 10 27.027 STAB1 0 genome.wustl.edu 37 3 52546401 52546401 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 52546401 52546401 C - DEL STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_del c.2928 p.P978fs 0.997 superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 257 0 0 87 41 32.0312 ERC2 0 genome.wustl.edu 37 3 55768913 55768913 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 55768913 55768913 T - DEL ERC2 ENST00000288221 human ensembl 74_37 -1 known frame_shift_del c.2598 p.D867fs 0.998 pfam_CAZ_cplx_RIM-bd_prot pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 31 0 0 9 7 43.75 APPL1 0 genome.wustl.edu 37 3 57294708 57294708 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 57294708 57294708 T - DEL APPL1 ENST00000288266 human ensembl 74_37 +1 known frame_shift_del c.1748 p.F584fs 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL1 HGNC ENSG00000157500 342 0 0 165 47 22.1698 ADAMTS9-AS1 0 genome.wustl.edu 37 3 64554386 64554387 + RNA DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 64554386 64554387 AA - DEL ADAMTS9-AS1 ENST00000492209 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.003 - - - no_errors ADAMTS9-AS1 HGNC ENSG00000241158 10 0 0 5 5 50 EPHA3 0 genome.wustl.edu 37 3 89499363 89499363 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 3 89499363 89499363 C - DEL EPHA3 ENST00000336596 human ensembl 74_37 +1 known frame_shift_del c.2533 p.M847fs 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA3 HGNC ENSG00000044524 101 0 0 35 9 20.4545 TBCK 0 genome.wustl.edu 37 4 107156505 107156505 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 107156505 107156505 T - DEL TBCK ENST00000273980 human ensembl 74_37 -1 known frame_shift_del c.1370 p.N457fs 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rhodanese-like_dom,superfamily_Kinase-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Rab-GTPase-TBC_dom,smart_Rhodanese-like_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Prot_kinase_dom,pfscan_Rhodanese-like_dom - no_errors TBCK HGNC ENSG00000145348 39 0 0 21 6 22.2222 LARP7 0 genome.wustl.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 113570754 113570754 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1206 p.T405fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 34 0 0 18 11 37.931 LARP7 0 genome.wustl.edu 37 4 113578483 113578483 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 113578483 113578483 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1749 p.*583fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 33 0 0 19 9 32.1429 ADAD1 0 genome.wustl.edu 37 4 123302211 123302211 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 123302211 123302211 A - DEL ADAD1 ENST00000296513 human ensembl 74_37 +1 known frame_shift_del c.237 p.I82fs 1.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 141 0 0 54 13 19.403 PCDH18 0 genome.wustl.edu 37 4 138452697 138452697 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 138452697 138452697 A - DEL PCDH18 ENST00000344876 human ensembl 74_37 -1 known frame_shift_del c.546 p.F182fs 0.005 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 PCDH18 HGNC ENSG00000189184 90 0 0 44 30 40.5405 PROM1 0 genome.wustl.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 170 1 0.584795 88 12 12 TMA16 0 genome.wustl.edu 37 4 164435265 164435265 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 164435265 164435265 A - DEL TMA16 ENST00000358572 human ensembl 74_37 +1 known frame_shift_del c.194 p.K67fs 0.343 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 119 0 0 57 12 17.3913 WDR17 0 genome.wustl.edu 37 4 177050003 177050004 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 177050003 177050004 - A INS WDR17 ENST00000280190 human ensembl 74_37 +1 known frame_shift_ins c.977_978 p.F329fs 0.927:0.905 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 60 0 0 36 11 23.4043 SORBS2 0 genome.wustl.edu 37 4 186544439 186544439 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 186544439 186544439 T - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.2132 p.N711fs 0.203 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 354 0 0 154 78 33.6207 SORBS2 0 genome.wustl.edu 37 4 186544879 186544879 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 186544879 186544879 G - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.1692 p.A565fs 0.002 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 126 0 0 58 29 33.3333 SORBS2 0 genome.wustl.edu 37 4 186545480 186545480 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 186545480 186545480 T - DEL SORBS2 ENST00000284776 human ensembl 74_37 -1 known frame_shift_del c.1091 p.N364fs 0.996 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SORBS2 HGNC ENSG00000154556 125 0 0 69 29 29.5918 WHSC1 0 genome.wustl.edu 37 4 1980559 1980559 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 1980559 1980559 C - DEL WHSC1 ENST00000382891 human ensembl 74_37 +1 known frame_shift_del c.4021 p.P1343fs 0.982 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 50 0 0 28 6 17.6471 EVC 0 genome.wustl.edu 37 4 5746947 5746947 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 5746947 5746947 A - DEL EVC ENST00000264956 human ensembl 74_37 +1 known frame_shift_del c.818 p.K274fs 1.000 NULL NULL - no_errors EVC HGNC ENSG00000072840 124 0 0 46 20 30.303 REST 0 genome.wustl.edu 37 4 57796314 57796315 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 57796314 57796315 - A INS REST ENST00000309042 human ensembl 74_37 +1 known frame_shift_ins c.1290_1291 p.R432fs 1.000:1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 128 0 0 73 31 29.8077 POLR2B 0 genome.wustl.edu 37 4 57871589 57871589 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 57871589 57871589 A - DEL POLR2B ENST00000314595 human ensembl 74_37 +1 known frame_shift_del c.1078 p.A362fs 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC ENSG00000047315 211 0 0 95 34 26.3566 AFM 0 genome.wustl.edu 37 4 74347531 74347532 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 74347531 74347532 - T INS AFM ENST00000226355 human ensembl 74_37 +1 known frame_shift_ins c.39_40 p.L15fs 0.970:0.970 pirsf_Serum_albumin/AFP pirsf_Serum_albumin/AFP,pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,prints_ALB/AFP/VDB,prints_Alpha-fetoprotein - no_errors AFM HGNC ENSG00000079557 71 0 0 33 15 31.25 C4orf26 0 genome.wustl.edu 37 4 76489701 76489701 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 76489701 76489701 A - DEL C4orf26 ENST00000435974 human ensembl 74_37 +1 putative frame_shift_del c.489 p.K165fs 0.001 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 113 0 0 91 7 7.14286 SDAD1 0 genome.wustl.edu 37 4 76891521 76891521 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 76891521 76891521 T - DEL SDAD1 ENST00000356260 human ensembl 74_37 -1 known frame_shift_del c.824 p.K275fs 1.000 superfamily_ARM-type_fold pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold - no_errors SDAD1 HGNC ENSG00000198301 115 0 0 39 14 26.4151 STPG2 0 genome.wustl.edu 37 4 99027105 99027105 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 4 99027105 99027105 T - DEL STPG2 ENST00000295268 human ensembl 74_37 -1 known frame_shift_del c.611 p.K204fs 1.000 NULL NULL - no_errors STPG2 HGNC ENSG00000163116 22 0 0 6 5 45.4545 ZNF608 0 genome.wustl.edu 37 5 123984684 123984684 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 123984684 123984684 C - DEL ZNF608 ENST00000306315 human ensembl 74_37 -1 known frame_shift_del c.1393 p.A465fs 0.918 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 236 0 0 90 34 27.4194 NME5 0 genome.wustl.edu 37 5 137451297 137451297 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 137451297 137451297 T - DEL NME5 ENST00000514481 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NME5 HGNC ENSG00000112981 24 0 0 15 8 34.7826 PCDHB5 0 genome.wustl.edu 37 5 140515740 140515740 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 140515740 140515740 T - DEL PCDHB5 ENST00000231134 human ensembl 74_37 +1 known frame_shift_del c.724 p.L243fs 0.995 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 651 0 0 264 105 28.4553 RNF145 0 genome.wustl.edu 37 5 158630630 158630630 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 158630630 158630630 T - DEL RNF145 ENST00000518802 human ensembl 74_37 -1 known frame_shift_del c.86 p.N29fs 0.002 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF145 HGNC ENSG00000145860 82 0 0 50 6 10.7143 FOXI1 0 genome.wustl.edu 37 5 169533111 169533111 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 169533111 169533111 G - DEL FOXI1 ENST00000306268 human ensembl 74_37 +1 known frame_shift_del c.150 p.G52fs 0.054 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 44 0 0 21 12 36.3636 CDHR2 0 genome.wustl.edu 37 5 176004429 176004429 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 176004429 176004429 G - DEL CDHR2 ENST00000261944 human ensembl 74_37 +1 known frame_shift_del c.1224 p.G410fs 0.117 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 32 0 0 7 4 36.3636 SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 74_37 +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 23 0 0 27 13 32.5 IL7R 0 genome.wustl.edu 37 5 35867541 35867541 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 35867541 35867541 A - DEL IL7R ENST00000303115 human ensembl 74_37 +1 known frame_shift_del c.355 p.I121fs 0.165 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 115 0 0 61 21 25.6098 C5orf42 0 genome.wustl.edu 37 5 37167150 37167150 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 37167150 37167150 T - DEL C5orf42 ENST00000425232 human ensembl 74_37 -1 known frame_shift_del c.7399 p.R2467fs 1.000 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 80 0 0 42 13 23.6364 C9 0 genome.wustl.edu 37 5 39289038 39289039 + Frame_Shift_Del DEL TA TA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 39289038 39289039 TA - DEL C9 ENST00000263408 human ensembl 74_37 -1 known frame_shift_del c.1432_1431 p.Y477fs 0.746:0.443 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 102 0 0 55 24 30.3797 ERBB2IP 0 genome.wustl.edu 37 5 65374370 65374370 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 65374370 65374370 A - DEL ERBB2IP ENST00000503913 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ERBB2IP HGNC ENSG00000112851 76 0 0 38 13 25.4902 PAPD4 0 genome.wustl.edu 37 5 78938656 78938657 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 78938656 78938657 - T INS PAPD4 ENST00000296783 human ensembl 74_37 +1 known frame_shift_ins c.674_675 p.Q228fs 0.846:0.988 NULL pfam_PAP_assoc - no_errors PAPD4 HGNC ENSG00000164329 49 0 0 28 9 24.3243 COX7C 0 genome.wustl.edu 37 5 85913794 85913794 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 5 85913794 85913794 A - DEL COX7C ENST00000505430 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COX7C HGNC ENSG00000127184 33 0 0 8 5 38.4615 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 213 0 0 88 35 28.4553 AK9 0 genome.wustl.edu 37 6 109850222 109850222 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 109850222 109850222 T - DEL AK9 ENST00000424296 human ensembl 74_37 -1 known frame_shift_del c.3625 p.R1209fs 0.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors AK9 HGNC ENSG00000155085 93 0 0 37 12 24.4898 ADTRP 0 genome.wustl.edu 37 6 11714640 11714640 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 11714640 11714640 A - DEL ADTRP ENST00000512139 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ADTRP HGNC ENSG00000111863 43 0 0 15 15 50 CEP85L 0 genome.wustl.edu 37 6 118803034 118803034 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 118803034 118803034 T - DEL CEP85L ENST00000368488 human ensembl 74_37 -1 known frame_shift_del c.1662 p.K554fs 0.075 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 24 0 0 13 3 18.75 KIAA0408 0 genome.wustl.edu 37 6 127771252 127771252 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 127771252 127771252 T - DEL KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel frame_shift_del c.381 p.K127fs 0.001 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 218 0 0 106 41 27.8912 ENSG00000227678 0 genome.wustl.edu 37 6 130454856 130454856 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 130454856 130454856 T - DEL ENSG00000227678 ENST00000415964 human ensembl 74_37 -1 known rna NULL NULL 0.125 - - - no_errors RP11-73O6.3 Clone_based_vega_gene ENSG00000227678 21 0 0 11 17 60.7143 FBXO5 0 genome.wustl.edu 37 6 153292227 153292227 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 153292227 153292227 T - DEL FBXO5 ENST00000477822 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors FBXO5 HGNC ENSG00000112029 18 0 0 15 9 37.5 ENSG00000235381 0 genome.wustl.edu 37 6 155575539 155575539 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 155575539 155575539 C - DEL ENSG00000235381 ENST00000435295 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-477D19.2 Clone_based_vega_gene ENSG00000235381 64 0 0 35 11 23.913 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 107 0 0 43 9 17.3077 TULP4 0 genome.wustl.edu 37 6 158923752 158923753 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 158923752 158923753 - G INS TULP4 ENST00000367097 human ensembl 74_37 +1 known frame_shift_ins c.3057_3058 p.V1021fs 0.001:0.001 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 30 0 0 9 14 60.8696 FGFR1OP 0 genome.wustl.edu 37 6 167438458 167438458 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 167438458 167438458 T - DEL FGFR1OP ENST00000496181 human ensembl 74_37 +1 known rna NULL NULL 0.043 - - - no_errors FGFR1OP HGNC ENSG00000213066 31 0 0 22 8 26.6667 PHF10 0 genome.wustl.edu 37 6 170104148 170104148 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 170104148 170104148 G - DEL PHF10 ENST00000339209 human ensembl 74_37 -1 known frame_shift_del c.1448 p.P483fs 1.000 superfamily_Znf_FYVE_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF10 HGNC ENSG00000130024 100 0 0 30 13 30.2326 RBM24 0 genome.wustl.edu 37 6 17292449 17292450 + RNA DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 17292449 17292450 AA - DEL RBM24 ENST00000508508 human ensembl 74_37 +1 known rna NULL NULL 0.915:0.719 - - - no_errors RBM24 HGNC ENSG00000112183 40 0 0 27 12 30.7692 KIF13A 0 genome.wustl.edu 37 6 17837127 17837128 + Frame_Shift_Del DEL CT CT - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 17837127 17837128 CT - DEL KIF13A ENST00000259711 human ensembl 74_37 -1 known frame_shift_del c.1137_1136 p.E379fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 438 0 0 170 84 33.0709 PGBD1 0 genome.wustl.edu 37 6 28254890 28254890 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 28254890 28254890 A - DEL PGBD1 ENST00000259883 human ensembl 74_37 +1 known frame_shift_del c.587 p.N198fs 0.544 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_SRCR,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC ENSG00000137338 123 0 0 39 22 36.0656 OR11A1 0 genome.wustl.edu 37 6 29394884 29394884 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 29394884 29394884 A - DEL OR11A1 ENST00000377147 human ensembl 74_37 -1 known frame_shift_del c.535 p.Y179fs 0.978 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 51 0 0 17 11 39.2857 HLA-A 0 genome.wustl.edu 37 6 29911900 29911900 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 29911900 29911900 C - DEL HLA-A ENST00000376806 human ensembl 74_37 +1 known frame_shift_del c.621 p.K210fs 0.000 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-A HGNC ENSG00000206503 514 0 0 156 46 22.7723 HLA-C 0 genome.wustl.edu 37 6 31238246 31238247 + Frame_Shift_Del DEL GT GT - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 31238246 31238247 GT - DEL HLA-C ENST00000383329 human ensembl 74_37 -1 known frame_shift_del c.636_635 p.H212fs 0.014:0.013 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-C HGNC ENSG00000204525 224 0 0 76 42 35.5932 HLA-C 0 genome.wustl.edu 37 6 31238875 31238875 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 31238875 31238875 G - DEL HLA-C ENST00000383329 human ensembl 74_37 -1 known frame_shift_del c.594 p.N198fs 0.663 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-C HGNC ENSG00000204525 184 0 0 66 4 5.71429 HLA-B 0 genome.wustl.edu 37 6 31323353 31323356 + Frame_Shift_Del DEL GTGT GTGT - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GTGT GTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 31323353 31323356 GTGT - DEL HLA-B ENST00000412585 human ensembl 74_37 -1 known frame_shift_del c.636_633 p.H212fs 0.000:0.000:0.001:0.001 pfscan_Ig-like_dom pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-B HGNC ENSG00000234745 332 0 0 124 37 22.9814 LSM2 0 genome.wustl.edu 37 6 31765402 31765402 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 31765402 31765402 A - DEL LSM2 ENST00000470083 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LSM2 HGNC ENSG00000204392 45 0 0 15 15 50 EHMT2 0 genome.wustl.edu 37 6 31864887 31864887 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 31864887 31864887 C - DEL EHMT2 ENST00000395728 human ensembl 74_37 -1 known frame_shift_del c.93 p.H33fs 0.001 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT2 HGNC ENSG00000204371 19 0 0 19 8 29.6296 HLA-DQA2 0 genome.wustl.edu 37 6 32709238 32709239 + In_Frame_Ins INS - - CTG TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 32709238 32709239 - CTG INS HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known in_frame_ins c.18_19 p.9in_frame_insL 0.160:0.173 NULL pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DQA2 HGNC ENSG00000237541 56 0 0 14 5 26.3158 C6orf89 0 genome.wustl.edu 37 6 36867370 36867371 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 36867370 36867371 - C INS C6orf89 ENST00000355190 human ensembl 74_37 +1 known frame_shift_ins c.171_172 p.Q60fs 0.997:0.991 NULL NULL - no_errors C6orf89 HGNC ENSG00000198663 149 0 0 69 14 16.8675 PTCRA 0 genome.wustl.edu 37 6 42890866 42890866 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 42890866 42890866 C - DEL PTCRA ENST00000304672 human ensembl 74_37 +1 known frame_shift_del c.160 p.P55fs 0.091 NULL NULL - no_errors PTCRA HGNC ENSG00000171611 210 0 0 75 34 31.1927 RHAG 0 genome.wustl.edu 37 6 49586892 49586892 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 49586892 49586892 T - DEL RHAG ENST00000371175 human ensembl 74_37 -1 known frame_shift_del c.341 p.N114fs 0.640 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHAG HGNC ENSG00000112077 52 0 0 41 22 34.9206 DEFB113 0 genome.wustl.edu 37 6 49936565 49936566 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 49936565 49936566 - T INS DEFB113 ENST00000398718 human ensembl 74_37 -1 known frame_shift_ins c.74_73 p.T25fs 0.000:0.001 NULL NULL - no_errors DEFB113 HGNC ENSG00000214642 41 0 0 26 10 27.7778 DST 0 genome.wustl.edu 37 6 56401586 56401587 + Frame_Shift_Del DEL GA GA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 56401586 56401587 GA - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.16668_16667 p.L5556fs 0.975:1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 254 0 0 97 26 21.1382 BMP6 0 genome.wustl.edu 37 6 7862547 7862547 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 7862547 7862547 C - DEL BMP6 ENST00000283147 human ensembl 74_37 +1 known frame_shift_del c.1020 p.R342fs 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP6 HGNC ENSG00000153162 260 0 0 96 31 24.4094 MDN1 0 genome.wustl.edu 37 6 90415853 90415853 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 90415853 90415853 A - DEL MDN1 ENST00000369393 human ensembl 74_37 -1 known frame_shift_del c.8073 p.F2691fs 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 109 0 0 41 10 19.6078 PNISR 0 genome.wustl.edu 37 6 99848584 99848584 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 99848584 99848584 T - DEL PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_del c.2250 p.K750fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 227 0 0 160 34 17.5258 PNISR 0 genome.wustl.edu 37 6 99848834 99848834 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 99848834 99848834 T - DEL PNISR ENST00000369239 human ensembl 74_37 -1 known frame_shift_del c.2000 p.K667fs 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 67 0 0 30 15 33.3333 PNISR 0 genome.wustl.edu 37 6 99850616 99850617 + RNA INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 6 99850616 99850617 - A INS PNISR ENST00000460600 human ensembl 74_37 -1 known rna NULL NULL 0.971:0.972 - - - no_errors PNISR HGNC ENSG00000132424 134 0 0 67 29 30.2083 GIGYF1 0 genome.wustl.edu 37 7 100285169 100285170 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 100285169 100285170 - G INS GIGYF1 ENST00000275732 human ensembl 74_37 -1 known frame_shift_ins c.332_331 p.L111fs 0.003:0.025 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 65 0 0 37 6 13.9535 NAPEPLD 0 genome.wustl.edu 37 7 102760123 102760123 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 102760123 102760123 A - DEL NAPEPLD ENST00000455523 human ensembl 74_37 -1 known frame_shift_del c.1061 p.F354fs 1.000 NULL NULL - no_errors NAPEPLD HGNC ENSG00000161048 155 0 0 58 24 29.2683 SLC26A5 0 genome.wustl.edu 37 7 103061308 103061308 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 103061308 103061308 T - DEL SLC26A5 ENST00000306312 human ensembl 74_37 -1 known frame_shift_del c.169 p.I57fs 1.000 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A5 HGNC ENSG00000170615 125 0 0 55 25 31.25 PIK3CG 0 genome.wustl.edu 37 7 106508995 106508995 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 106508995 106508995 C - DEL PIK3CG ENST00000359195 human ensembl 74_37 +1 known frame_shift_del c.989 p.T330fs 1.000 NULL pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 189 0 0 68 21 23.5955 LAMB4 0 genome.wustl.edu 37 7 107664504 107664505 + Frame_Shift_Ins INS - - T TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 107664504 107664505 - T INS LAMB4 ENST00000205386 human ensembl 74_37 -1 known frame_shift_ins c.5266_5265 p.Y1755fs 0.057:0.069 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 71 0 0 34 17 33.3333 LAMB4 0 genome.wustl.edu 37 7 107746988 107746988 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 107746988 107746988 A - DEL LAMB4 ENST00000205386 human ensembl 74_37 -1 known frame_shift_del c.621 p.F207fs 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 28 0 0 23 6 20.6897 GPR37 0 genome.wustl.edu 37 7 124404490 124404490 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 124404490 124404490 A - DEL GPR37 ENST00000303921 human ensembl 74_37 -1 known frame_shift_del c.541 p.Y181fs 0.998 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 242 0 0 66 24 26.6667 KIAA1549 0 genome.wustl.edu 37 7 138603524 138603524 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 138603524 138603524 A - DEL KIAA1549 ENST00000422774 human ensembl 74_37 -1 known frame_shift_del c.848 p.L283fs 0.001 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 64 0 0 41 26 38.806 ETV1 0 genome.wustl.edu 37 7 13975473 13975473 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 13975473 13975473 G - DEL ETV1 ENST00000405218 human ensembl 74_37 -1 known frame_shift_del c.414 p.T139fs 0.466 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV1 HGNC ENSG00000006468 157 1 0.632911 68 28 29.1667 KMT2C 0 genome.wustl.edu 37 7 151845524 151845524 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 207 1 0.480769 102 54 34.6154 KMT2C 0 genome.wustl.edu 37 7 152012386 152012386 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 152012386 152012386 T - DEL KMT2C ENST00000355193 human ensembl 74_37 -1 known frame_shift_del c.427 p.S143fs 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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 146 0 0 70 28 28.5714 SKAP2 0 genome.wustl.edu 37 7 26904108 26904108 + RNA DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 26904108 26904108 G - DEL SKAP2 ENST00000487720 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SKAP2 HGNC ENSG00000005020 30 0 0 20 4 16.6667 GPR141 0 genome.wustl.edu 37 7 37780555 37780555 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 37780555 37780555 T - DEL GPR141 ENST00000334425 human ensembl 74_37 +1 known frame_shift_del c.560 p.F188fs 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR141 HGNC ENSG00000187037 173 0 0 91 42 31.5789 C7orf57 0 genome.wustl.edu 37 7 48086205 48086205 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 48086205 48086205 A - DEL C7orf57 ENST00000348904 human ensembl 74_37 +1 known frame_shift_del c.499 p.K169fs 1.000 NULL NULL - no_errors C7orf57 HGNC ENSG00000164746 44 0 0 13 3 18.75 ABCA13 0 genome.wustl.edu 37 7 48313347 48313347 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 48313347 48313347 T - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.4084 p.L1363fs 0.047 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 40 0 0 13 4 23.5294 ABCA13 0 genome.wustl.edu 37 7 48313595 48313595 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 48313595 48313595 A - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.4332 p.K1446fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 91 0 0 43 12 21.8182 ABCA13 0 genome.wustl.edu 37 7 48317944 48317944 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 48317944 48317944 T - DEL ABCA13 ENST00000435803 human ensembl 74_37 +1 known frame_shift_del c.7153 p.F2386fs 0.002 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 46 0 0 24 9 27.2727 PMS2 0 genome.wustl.edu 37 7 6027157 6027157 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 6027157 6027157 T - DEL PMS2 ENST00000265849 human ensembl 74_37 -1 known frame_shift_del c.1239 p.D414fs 0.017 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 121 1 0.819672 54 20 27.027 C7orf63 0 genome.wustl.edu 37 7 89929188 89929188 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 7 89929188 89929188 A - DEL C7orf63 ENST00000389297 human ensembl 74_37 +1 known frame_shift_del c.1865 p.K624fs 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 42 0 0 14 7 33.3333 UBR5 0 genome.wustl.edu 37 8 103274272 103274272 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 103274272 103274272 A - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.7713 p.F2571fs 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 129 0 0 79 31 28.1818 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 103289349 103289349 T - DEL UBR5 ENST00000520539 human ensembl 74_37 -1 known frame_shift_del c.6360 p.E2121fs 0.987 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 182 1 0.546448 123 45 26.7857 FER1L6 0 genome.wustl.edu 37 8 125080031 125080031 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 125080031 125080031 A - DEL FER1L6 ENST00000399018 human ensembl 74_37 +1 known frame_shift_del c.3702 p.G1237fs 0.152 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 91 0 0 35 16 31.3725 ZNF572 0 genome.wustl.edu 37 8 125987893 125987893 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 125987893 125987893 A - DEL ZNF572 ENST00000319286 human ensembl 74_37 +1 known frame_shift_del c.11 p.K6fs 0.002 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF572 HGNC ENSG00000180938 155 0 0 78 27 25.7143 PTK2 0 genome.wustl.edu 37 8 141754889 141754892 + RNA DEL AAAA AAAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 141754889 141754892 AAAA - DEL PTK2 ENST00000518509 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004:0.005:0.002 - - - no_errors PTK2 HGNC ENSG00000169398 25 0 0 27 5 15.625 OPLAH 0 genome.wustl.edu 37 8 145109541 145109542 + Frame_Shift_Ins INS - - GG TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145109541 145109542 - GG INS OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_ins c.2609_2608 p.H870fs 1.000:1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 84 0 0 40 8 16.6667 HSF1 0 genome.wustl.edu 37 8 145535689 145535689 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 145535689 145535689 C - DEL HSF1 ENST00000528838 human ensembl 74_37 +1 known frame_shift_del c.901 p.S303fs 1.000 pfam_Vert_HSTF_C pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 22 0 0 25 2 7.40741 CCAR2 0 genome.wustl.edu 37 8 22472974 22472975 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 22472974 22472975 - C INS CCAR2 ENST00000308511 human ensembl 74_37 +1 known frame_shift_ins c.1242_1243 p.R416fs 0.963:1.000 NULL superfamily_NA-bd_OB-fold - no_errors CCAR2 HGNC ENSG00000158941 295 0 0 155 34 17.9894 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 140 0 0 97 26 21.1382 NUGGC 0 genome.wustl.edu 37 8 27888776 27888776 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 27888776 27888776 T - DEL NUGGC ENST00000341513 human ensembl 74_37 -1 known frame_shift_del c.1892 p.N631fs 0.005 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 372 0 0 228 61 21.1073 RAB11FIP1 0 genome.wustl.edu 37 8 37730746 37730747 + RNA DEL GA GA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 37730746 37730747 GA - DEL RAB11FIP1 ENST00000523182 human ensembl 74_37 -1 known rna NULL NULL 0.546:0.892 - - - no_errors RAB11FIP1 HGNC ENSG00000156675 51 0 0 24 9 27.2727 RB1CC1 0 genome.wustl.edu 37 8 53568877 53568877 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 53568877 53568877 T - DEL RB1CC1 ENST00000025008 human ensembl 74_37 -1 known frame_shift_del c.3512 p.N1171fs 0.002 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 67 0 0 73 13 15.1163 RP1 0 genome.wustl.edu 37 8 55539136 55539137 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 55539136 55539137 - A INS RP1 ENST00000220676 human ensembl 74_37 +1 known frame_shift_ins c.2694_2695 p.P900fs 1.000:1.000 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 76 0 0 72 24 25 MCPH1 0 genome.wustl.edu 37 8 6302639 6302639 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 6302639 6302639 A - DEL MCPH1 ENST00000344683 human ensembl 74_37 +1 known frame_shift_del c.1396 p.T468fs 0.010 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 131 0 0 102 27 20.9302 NKAIN3 0 genome.wustl.edu 37 8 63831057 63831059 + In_Frame_Del DEL GAA GAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 63831057 63831059 GAA - DEL NKAIN3 ENST00000328472 human ensembl 74_37 +1 known in_frame_del c.517_519 p.E175in_frame_del 1.000:1.000:1.000 pfam_Na/K-Atpase_Interacting pfam_Na/K-Atpase_Interacting - no_errors NKAIN3 HGNC ENSG00000185942 56 0 0 30 7 18.9189 SGK3 0 genome.wustl.edu 37 8 67716612 67716612 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 67716612 67716612 A - DEL SGK3 ENST00000345714 human ensembl 74_37 +1 known frame_shift_del c.183 p.K63fs 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Phox,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Phox,pfscan_Prot_kinase_dom - no_errors SGK3 HGNC ENSG00000104205 85 0 0 55 12 17.9104 CSPP1 0 genome.wustl.edu 37 8 68076631 68076631 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 68076631 68076631 A - DEL CSPP1 ENST00000262210 human ensembl 74_37 +1 known frame_shift_del c.2701 p.N903fs 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 105 1 0.943396 90 20 18.1818 ARFGEF1 0 genome.wustl.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 68128855 68128856 - G INS ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_ins c.4656_4655 p.P1553fs 0.000:0.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 116 0 0 76 21 21.6495 XKR9 0 genome.wustl.edu 37 8 71646461 71646461 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 71646461 71646461 C - DEL XKR9 ENST00000408926 human ensembl 74_37 +1 known frame_shift_del c.924 p.L310fs 0.298 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR9 HGNC ENSG00000221947 32 0 0 47 5 9.61538 ZC2HC1A 0 genome.wustl.edu 37 8 79590834 79590834 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 79590834 79590834 A - DEL ZC2HC1A ENST00000263849 human ensembl 74_37 +1 known frame_shift_del c.130 p.K45fs 1.000 NULL NULL - no_errors ZC2HC1A HGNC ENSG00000104427 247 0 0 159 57 26.3889 CNGB3 0 genome.wustl.edu 37 8 87645015 87645015 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 87645015 87645015 A - DEL CNGB3 ENST00000320005 human ensembl 74_37 -1 known frame_shift_del c.1285 p.S429fs 0.003 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB3 HGNC ENSG00000170289 74 0 0 63 6 8.69565 SLC26A7 0 genome.wustl.edu 37 8 92407491 92407491 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 92407491 92407491 T - DEL SLC26A7 ENST00000520249 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC26A7 HGNC ENSG00000147606 25 0 0 31 9 22.5 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 146 0 0 94 30 24.1935 INTS8 0 genome.wustl.edu 37 8 95892421 95892421 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 95892421 95892421 A - DEL INTS8 ENST00000523731 human ensembl 74_37 +1 known frame_shift_del c.2947 p.K985fs 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 106 0 0 77 18 18.9474 SNORA72 0 genome.wustl.edu 37 8 99054837 99054839 + RNA DEL AAA AAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 8 99054837 99054839 AAA - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049:0.047:0.041 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 82 0 0 68 25 26.8817 COL15A1 0 genome.wustl.edu 37 9 101818643 101818643 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 101818643 101818643 G - DEL COL15A1 ENST00000375001 human ensembl 74_37 +1 known frame_shift_del c.3294 p.P1101fs 0.748 NULL pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL15A1 HGNC ENSG00000204291 110 0 0 48 12 20 SMC2 0 genome.wustl.edu 37 9 106864838 106864838 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 106864838 106864838 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.1004 p.N337fs 0.999 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 66 0 0 32 6 15.7895 TRIM32 0 genome.wustl.edu 37 9 119461528 119461528 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 119461528 119461528 G - DEL TRIM32 ENST00000373983 human ensembl 74_37 +1 known frame_shift_del c.1507 p.V504fs 1.000 NULL pfam_NHL_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM32 HGNC ENSG00000119401 131 0 0 66 17 20.4819 NAIF1 0 genome.wustl.edu 37 9 130829063 130829063 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 130829063 130829063 C - DEL NAIF1 ENST00000373078 human ensembl 74_37 -1 known frame_shift_del c.318 p.P107fs 1.000 NULL NULL - no_errors NAIF1 HGNC ENSG00000171169 122 0 0 34 14 29.1667 SPTAN1 0 genome.wustl.edu 37 9 131371511 131371511 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 131371511 131371511 A - DEL SPTAN1 ENST00000358161 human ensembl 74_37 +1 known frame_shift_del c.4706 p.K1570fs 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 112 0 0 50 24 32.4324 PPP1R26 0 genome.wustl.edu 37 9 138379043 138379043 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 138379043 138379043 G - DEL PPP1R26 ENST00000356818 human ensembl 74_37 +1 known frame_shift_del c.2687 p.V898fs 0.002 NULL NULL - no_errors PPP1R26 HGNC ENSG00000196422 163 1 0.609756 60 26 30.2326 NPDC1 0 genome.wustl.edu 37 9 139934525 139934526 + RNA INS - - G TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 139934525 139934526 - G INS NPDC1 ENST00000472668 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.005 - - - no_errors NPDC1 HGNC ENSG00000107281 52 0 0 13 7 35 PNPLA7 0 genome.wustl.edu 37 9 140356679 140356679 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 140356679 140356679 G - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_del c.3597 p.I1200fs 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 94 0 0 33 15 31.25 PNPLA7 0 genome.wustl.edu 37 9 140437890 140437890 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 140437890 140437890 T - DEL PNPLA7 ENST00000406427 human ensembl 74_37 -1 known frame_shift_del c.500 p.N167fs 0.998 superfamily_cNMP-bd-like pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 223 0 0 86 29 25.2174 PSIP1 0 genome.wustl.edu 37 9 15472612 15472613 + RNA DEL AA AA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 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 122 0 0 38 13 25.4902 CNTLN 0 genome.wustl.edu 37 9 17502598 17502598 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 17502598 17502598 A - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.4169 p.K1392fs 1.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 40 0 0 19 9 32.1429 MLLT3 0 genome.wustl.edu 37 9 20346378 20346380 + RNA DEL AAA AAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 20346378 20346380 AAA - DEL MLLT3 ENST00000380323 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.950:0.903 - - - no_errors MLLT3 HGNC ENSG00000171843 26 0 0 23 5 17.8571 MLLT3 0 genome.wustl.edu 37 9 20346378 20346381 + RNA DEL AAAA AAAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 20346378 20346381 AAAA - DEL MLLT3 ENST00000380323 human ensembl 74_37 -1 known rna NULL NULL 0.966:0.950:0.903:0.905 - - - no_errors MLLT3 HGNC ENSG00000171843 27 0 0 26 2 7.14286 FAM74A3 0 genome.wustl.edu 37 9 40716160 40716161 + RNA DEL GA GA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 40716160 40716161 GA - DEL FAM74A3 ENST00000355345 human ensembl 74_37 +1 known rna NULL NULL 0.020:0.020 - - - no_errors FAM74A3 HGNC ENSG00000204844 120 0 0 84 9 9.67742 ANKRD20A4 0 genome.wustl.edu 37 9 69421905 69421905 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 69421905 69421905 A - DEL ANKRD20A4 ENST00000357336 human ensembl 74_37 +1 known frame_shift_del c.1369 p.N459fs 0.373 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD20A4 HGNC ENSG00000172014 90 0 0 32 5 13.5135 PCSK5 0 genome.wustl.edu 37 9 78506105 78506105 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 78506105 78506105 G - DEL PCSK5 ENST00000545128 human ensembl 74_37 +1 known frame_shift_del c.8 p.S5fs 1.000 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 80 0 0 25 10 28.5714 TLE1 0 genome.wustl.edu 37 9 84208132 84208132 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 84208132 84208132 G - DEL TLE1 ENST00000376499 human ensembl 74_37 -1 known frame_shift_del c.1389 p.D464fs 0.002 superfamily_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 147 0 0 71 12 14.4578 ASPN 0 genome.wustl.edu 37 9 95236979 95236979 + Frame_Shift_Del DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 95236979 95236979 A - DEL ASPN ENST00000375544 human ensembl 74_37 -1 known frame_shift_del c.201 p.P68fs 0.936 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors ASPN HGNC ENSG00000106819 92 0 0 31 18 36.7347 SLC35D2 0 genome.wustl.edu 37 9 99083474 99083474 + RNA DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 99083474 99083474 C - DEL SLC35D2 ENST00000490599 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC35D2 HGNC ENSG00000130958 57 0 0 26 16 38.0952 ZNF367 0 genome.wustl.edu 37 9 99150711 99150711 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 9 99150711 99150711 G - DEL ZNF367 ENST00000375256 human ensembl 74_37 -1 known frame_shift_del c.861 p.T288fs 0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF367 HGNC ENSG00000165244 179 0 0 61 22 26.506 RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 74_37 +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 40 0 0 17 31 64.5833 ATG4A 0 genome.wustl.edu 37 X 107395166 107395166 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 107395166 107395166 A - DEL ATG4A ENST00000474825 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ATG4A HGNC ENSG00000101844 50 0 0 17 20 54.0541 UTP14A 0 genome.wustl.edu 37 X 129055622 129055622 + RNA DEL A A - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 129055622 129055622 A - DEL UTP14A ENST00000498179 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors UTP14A HGNC ENSG00000156697 12 0 0 8 4 33.3333 ZNF449 0 genome.wustl.edu 37 X 134494267 134494268 + Frame_Shift_Ins INS - - C TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 134494267 134494268 - C INS ZNF449 ENST00000339249 human ensembl 74_37 +1 known frame_shift_ins c.823_824 p.E278fs 0.000:0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 124 0 0 56 8 12.5 PDZD4 0 genome.wustl.edu 37 X 153070220 153070220 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 153070220 153070220 C - DEL PDZD4 ENST00000164640 human ensembl 74_37 -1 known frame_shift_del c.898 p.D300fs 0.996 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD4 HGNC ENSG00000067840 66 0 0 17 22 56.4103 ASMTL 0 genome.wustl.edu 37 X 1546792 1546792 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 1546792 1546792 G - DEL ASMTL ENST00000381317 human ensembl 74_37 -1 known frame_shift_del c.732 p.G245fs 0.002 NULL pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf - no_errors ASMTL HGNC ENSG00000169093 158 1 0.628931 71 24 25.2632 MAGEB17 0 genome.wustl.edu 37 X 16189321 16189321 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 16189321 16189321 G - DEL MAGEB17 ENST00000400003 human ensembl 74_37 +1 known frame_shift_del c.816 p.W273fs 0.941 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB17 HGNC ENSG00000182798 51 0 0 14 9 39.1304 CNKSR2 0 genome.wustl.edu 37 X 21609255 21609256 + Frame_Shift_Ins INS - - A TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 21609255 21609256 - A INS CNKSR2 ENST00000379510 human ensembl 74_37 +1 known frame_shift_ins c.1773_1774 p.Y593fs 1.000:1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 84 0 0 18 39 68.4211 ARSD 0 genome.wustl.edu 37 X 2825315 2825315 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 2825315 2825315 G - DEL ARSD ENST00000381154 human ensembl 74_37 -1 known frame_shift_del c.1779 p.*594fs 0.000 NULL pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSD HGNC ENSG00000006756 73 0 0 6 13 68.4211 MED14 0 genome.wustl.edu 37 X 40588606 40588608 + RNA DEL AAA AAA - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 40588606 40588608 AAA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000:0.610 - - - no_errors MED14 HGNC ENSG00000180182 32 0 0 10 6 37.5 IQSEC2 0 genome.wustl.edu 37 X 53285177 53285177 + Frame_Shift_Del DEL G G - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 53285177 53285177 G - DEL IQSEC2 ENST00000396435 human ensembl 74_37 -1 known frame_shift_del c.804 p.Y269fs 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 17 0 0 4 9 69.2308 ARHGEF9 0 genome.wustl.edu 37 X 62974289 62974289 + RNA DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 62974289 62974289 T - DEL ARHGEF9 ENST00000495564 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ARHGEF9 HGNC ENSG00000131089 24 0 0 9 4 30.7692 RPS6KA6 0 genome.wustl.edu 37 X 83403063 83403063 + Frame_Shift_Del DEL T T - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 X 83403063 83403063 T - DEL RPS6KA6 ENST00000262752 human ensembl 74_37 -1 known frame_shift_del c.327 p.A110fs 0.992 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA6 HGNC ENSG00000072133 47 0 0 15 13 46.4286 NLGN4Y 0 genome.wustl.edu 37 Y 16942150 16942150 + Frame_Shift_Del DEL C C - TCGA-BR-8372-01A-11D-2340-08 TCGA-BR-8372-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1c609ffd-aec9-4d54-8cca-ef445e176dfd b8ec033b-f6fc-41f5-a02b-82e786b0afe3 Y 16942150 16942150 C - DEL NLGN4Y ENST00000382868 human ensembl 74_37 +1 known frame_shift_del c.1523 p.A510fs 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,prints_Neuroligin - no_errors NLGN4Y HGNC ENSG00000165246 95 0 0 34 24 41.3793